Maddie's Mission

Walk This Way

2012-01-16T22:48:00.002-05:00

She told me to
Walk this way!
Talk this way!
Walk this way!
Talk this way!

For those of you too young to remember, long before Steven Tyler was sitting behind the desk on American Idol, he had a little band in the 70's named Aerosmith. Then one day in the 80's, while practicing their well known song, RUN DMC knocked down the wall and created a masterpiece. In case you haven't heard or seen it, click here: Walk This Way

On February 26th, we plan to be filled with the same energy and spirit, participating in the MDA's second annual Muscle Walk at the King of Prussia Mall in Pennsylvania. Our team, Crowley Crusade, will be walking along with many other MDA families to raise research money for muscular dystrophy.

Last year, Crowley Crusade raised nearly $5000 for Pompe Disease research and this year our goal is to go even higher! Please sign up at http://www2.mda.org/goto/crowleycrusade, donate a few dollars, and walk a few laps with us to show support not only for our girls, but also for the many children in our area who battle each and every day against muscular dystrophy.

If you are unable to participate in person, please consider making a donation. Every penny makes a difference! You can donate by visiting our team's site at http://www2.mda.org/goto/crowleycrusade. If times are tough and you can't donate, please consider signing up just to walk or dropping a note of encouragement to our team.

Perhaps for the first time ever, I can guarantee you will leave the mall richer than you entered. You will meet adults whose strength will impress you and children whose power will leave you inspired when they pass you by, look back and challenge you to...

WALK THIS WAY!

All for two and two for all!
Matt and Donna Crowley

Credit to: Aerosmith and RUN DMC, "Walk This Way"

As you can see from the following photos, last year was a blast for everyone. The MDA promises this year will be even better! Mark your calendar and come join us!

Part of our team

A little team spirit!

Dancing with the Zumba Girls

The big kids showing their support!

Pompe Power Represent!

Little Yellow Corvette

2012-01-13T21:36:00.003-05:00

I guess I shoulda known 
By the way you parked your car sideways 

That it wouldn't last  

See you're the kinda person 

That believes in makin' out once 

Love 'em and leave 'em fast  

But it was Saturday night 

I guess that makes it all right 

And you say what have I got to lose?  

And honey I say  

Little red corvette 

Baby you're much to fast 

Little red corvette 

You need a love that's gonna last

There are two sentences daughters say that drive fear through even the strongest of fathers. Even though you know it's just a matter of time before you'll hear them, you are still stunned when you do. They are signs of the thing you fear the most. Your baby is growing up.

The first sentence is, "Daddy, I have a boyfriend!" and the second is, "Daddy, I got my driver's license!"

I try not to hide my head in the sand and deny that my daughter is getting older, but somehow it just happens. One photo of the first day of school passes to another showing the proof, but time moves quickly. You get busy; spend time on work, home improvement projects, and occasionally a hobby or two to pass the time. Before you blink, they go from the little girl in elementary school chorus, to the first day of high school, and then to the Department of Motor Vehicles. You listen to people older than you tell you that it goes by in an instant, but you think that's for others. You think that until she skips out with a big smile and driver's permit in hand. She's ready to get behind the wheel.

It's fun to teach your kids to drive. Dozens of circles around a church parking lot or a slow drive to the grocery store offers something to be cherished -- time. There is time for one-on-one conversations, time for your old stories, and time to teach your child to be a better person. There is time to share the best of the world and time to hope that future windshield views will only be of flowers, beautiful landscapes, and wonderful opportunities. But no matter how much you think about it you still wonder where the time has gone. How could my little girl be driving?

This commercial sums up how I felt:

http://www.youtube.com/watch?v=2qf8OGLqE1s

Emma will soon get her driver's license. She's put in hours behind the wheel, completed a driving course with an instructor and soon will take her test. While the fear of her driving alone and one day driving off to be on her own resides just below my skin, I press on for her. I press on with a quiet joy that she can do what she is doing even though there was some doubt just two years ago.

Shortly after Emma was diagnosed with Pompe disease she completed a battery of tests from cardiac exams, to breathing reviews, and finally one physical test after another. There were tests that challenged her to walk, to run, to sprint up steps, to jump up from the floor, and to use her fingers putting small blocks in small holes. The first few made perfect sense to me because I understood Pompe could impact her heart, her breathing, and her physical strength. What I didn't understand is why the doctors brought in occupational therapists to test things that seemed so obvious to me. Then it was explained. Pompe doesn't just impact the big muscles, it can also impact the little muscles we use everyday without thought. It can affect the muscle strength in your hands, your feet, your fingers and your toes.

So, you can appreciate my confusion when the occupational therapist told us that we should be thinking about Emma's ability to drive. "Drive?”, I questioned. What did any of this have to do with driving? They explained that she might not have the strength to release a parking brake with her hands, press down on the gas pedal to accelerate, or have enough dexterity to turn a steering wheel. They said she might require special supports for the pedals, special handles for the wheels, and maybe a special car. That was far too many "specials" in one sentence to me. I just wanted her to grow up and allow me the honor of teaching her to drive. I didn't want her to think about any of that.

So as the months past and the day she turned 16 edged closer, I can't deny I was a bit anxious. I wondered what would happen the day she got her permit. Would she be able to drive like everyone else or would we need to adapt her car with gadgets to make it happen. We would do whatever we needed. We just didn't know.

Fortunately, the magic of Lumizyme has kept most of her muscle weakness at bay. Even though she struggles to release the parking brake at times, her driving has improved to the point none of us thought about it. Like with most of the challenges she's faced, she adapted and moved on. She was prepared to drive, but neither of us were prepared for last Saturday.

As Emma, Donna and I got in the car, we commented how perfect the day was. It was January in Pennsylvania and over 50 degrees. As we approached our friend's house to drop off Maddie, we saw something special. It was my friend's 1968 Corvette. The hard top was off, the leather seats were shining in the sun, the engine was running, and my friend's message was simple. The keys were hers and there was to be no doubts and no questions. Today was the day, the day for Emma to drive the Little Yellow Corvette.

As Emma slowly backed out of the driveway and onto the roads, I thought about how lucky she was. Not only does she know someone who has a Corvette, she knows someone who leaves it running and says, "Go have fun!” So off we went...to Best Buy, to the mall, and all around town. She let me drive for a few minutes, but quickly grabbed the keys. The wind blew through her hair and the engine roared. She was soaking it in.

My lasting memory of that day will be when we stopped to show the car to one of my friends who has helped Emma in many, many ways. As he walked out to see the car, she smiled and said, "Wanna go for a ride?” He jumped in; she turned on the car, put it in drive, and started to pull away. She then stopped, looked back over her shoulder to make sure it was OK. I swallowed my fear, smiled, and gave her a gentle nod of approval.

Today was a day to enjoy and embrace. Today my baby girl created a memory that she will retell over and over again. She will tell her friends, her husband, and hopefully one day in between right and left turns, she will tell her own daughter as she teaches her to drive. Hopefully, she will share the story about a mild Saturday in January when her and her dad spent the afternoon with the top down and the engine roaring. She will remember with a gentle smile and a fondness for the day she got to drive that...Little Yellow Corvette.

Drive safe,

Matt

A special thanks to my friend with the keys. I don't need to tell you how much this meant to Emma because you already know. I saw it in your smile as she jumped behind the wheel. This author is a big fan of Anonymous.

Credit to: Prince, "Little Red Corvette"

Baby You're A Rich Man

2011-11-17T16:17:00.001-05:00

How does it feel to be 

One of the beautiful people? 

Now that you know who you are 

What do you want to be? 

And have you travelled very far? 

Far as the eye can see.

Baby you're a rich man,

Baby you're a rich man too.

This time of the year offers an odd mix of Christmas joy and New Year's anticipation. You'll find the rare station still playing classic Christmas carols, trying to retain the warmth of the season, while at the same time racks covered with paparazzi magazines listing the best things of 2011. You'll find lists with the best news stories, best movies, best celebrities, best looking, the best scandals, and the best scoundrels. One list that never misses attention is the richest people.

We list those who have the most family wealth at the end of 2011, those who were paid the most money in 2011, and even those that lost the most money in 2011. Some of these stories are meant to make us feel good and others are meant to make us upset. In these times of economic struggle we must find it satisfying to stand on the side of the good rich (aka Steve Jobs) and against the bad rich (aka anyone who works on Wall Street). I'm not sure this makes anyone feel any better on January 2nd, but such is life.

One thing missing from the list is a definition of the word "rich". Merriam-Webster defines it as "having abundant possessions and especially material wealth". This is easy to understand. Dollars and cents are simple to count and compare. When we think rich we think Bill Gates, Warren Buffett, or some movie star relaxing on a beach in the French Riviera. I propose this is only a partial definition of the word. Perhaps there is more than meets the eye.

A few weeks ago we were invited to Amicus Therapeutics to speak about our experiences with Pompe disease. Amicus (http://www.amicustherapeutics.com) is a biopharmaceutical company, lead by John Crowley, which is working on pharmacological chaperones for the treatment of genetic diseases. The science is much more sophisticated than I can detail, but the idea is chaperones will bind to a protein to increase its stability and increase its activity. For Pompe patients, these investigational drugs may one day be used in collaboration with Enzyme Replacement Therapy to heighten ERT's effectiveness in the body. In other words, if the product is successful, our girls will receive the same ERT via IV therapy, but hopefully each drop will work a bit better than today.

We've done these types of events for the MDA, CHOP, and others before, so we quickly agreed. Any opportunity to tell our story and meet others living our life or working to improve it is time well spent. So, we loaded up the car and drove to Amicus's offices in Cranbury, New Jersey. We received a warm welcome by members of the staff and were set up in a big conference room just in time of lunch. Before we knew it, the food and the employees starting rolling in. You never know how many people might attend these sessions, but we were lucky enough to have seventy employees. Working for corporate America myself, I know how tough it can be to get a few people away from their emails and meetings, so we were honored.

I started off the meeting with a few slides highlighting our story, our learnings, and our hopes. As soon as I began to talk I couldn't help but move around the room, test out a few one-liners, and make sure my message was as clear as possible. I was in "work mode", trying to engage the group and make sure their time was well spent. However, as I continued I didn't see people checking watches and Blackberries as is so common in today's fast paced business environment. Rather, I began to see emotion. In the midst of a never-ending focus on quarterly financials and clinical trial schedules, they were remembering the reason why they chose this profession. They are heroes to people who look to science to bring solutions to their loved ones facing disease.

After I finished my presentation, I invited Emma, Maddie, and Carter to take questions. To ease any concern about asking prying health questions to teenagers, Emma stepped up, spoke about her love of public speaking, and her interest in answering anything and everything about life with Pompe. The crowd seemed to relax and the questions began.

"Where do you receive your treatment?"

"Do you find yourself getting weaker or stronger?"

"How do you cope at school?"

"What do you tell your friends about Pompe and what do they think?"

"What is it like to be a brother with two sisters affected by Pompe?"

"How do you plan to transition to college?"

Donna and I chimed in here and there when necessary or when the questions were directed to us, but we tried to let the kids do their thing. For most of the time, I just sat back and grinned with pride.

Toward the end of the session, a man raised his hand so he could ask a question. Before he did, he stood up and told us that he too had three kids. One was a teenager, one was a bit younger, and one was soon to be born. His voice began to quiver as he said his wish was that one day his three children would be as strong and as close as those he saw before him. The power of his statement hit me as I looked at our three kids. Two years ago their world was rocked and now they are standing confidently together fielding questions and displaying their commitment to each other. "Wow!”

We finished off the meeting with a bit of dessert, a chat with some of the attendees, and a promise to stay in touch. Just like other events before, I hope we left behind just as much value as we gained. As I look back, I realize this day offered much more than I expected. It's been a crazy couple months as I've scurried around trying to finish this task and that task at work. The busy time has kept me away from some of the things I love such as this blog and made me focus too much on the short term issues of finance and quarter end results. Looking back, I remember that while all those things are important, they are fleeting. Just like the definition of "rich", the definition of "life" is so much deeper and so much more fulfilling.

So, as this year comes to a close you can spend some time searching if you wish, but I'll save you the time. You won't find me on any of the Best of 2011 lists. I haven't starred in a top 10 film, been rated as the most beautiful, or been named the richest guy in America. However, as midnight approaches and 2012 is rung in, I won't be worried by any of it. Instead, I will be spending the time with my loved ones, counting my blessings, and thinking of the day we visited Amicus and heard the kind words from another father, who saw our children proudly standing together, and remind myself once again that...

Baby you're a rich man,

Baby you're a rich man too.

Happy New Year!

Matt

Credit to: The Beatles, "Baby You're A Rich Man"

And Your Bird Can Sing

2011-11-09T05:46:00.003-05:00

You tell me that you've got everything you want
And your bird can sing
But you don't get me, you don't get me

When I was a teenager I thought my future was pre-determined. I didn't have the athletic ability to become a professional athlete nor the interest in becoming a lawyer. I was going to be a musician, writing songs, playing guitar, and singing in a band. I took the typical first step toward my goal, buying the first guitar in a pawn shop and taking lessons. Once a week I would head down to La Habra Music for lessons and each night I would slide on the turntable and play over the loud music coming out of my cheap speakers.

With the help of my teacher I was able to learn how to play chords, a couple simple riffs, and eventually my first song called "And Your Bird Can Sing" by some band named The Beatles. I must have played that song a hundred times, each time imagining the excitement of being on stage. Thankfully my parents were gracious enough to let me go at it over and over until I had it down. I'm sure it didn't sound anything like George Harrison, but I didn't care. I knew a song!

Time went by and that guitar was slowly replaced by college books and a girl I would someday call my wife. As the years rolled by we moved place to place from crappy apartments, to starter homes, and eventually to a nice place we are proud of. Each time we moved that guitar came along even if it found itself stashed away in a garage or basement. Here and there I would search it out and begin to play again just to see if I remembered that old riff and maybe that old song.

As our kids aged I noticed that we did have a musician in the house, but it wasn't me. It was Maddie. It started with clarinet in elementary school and then transitioned to violin. When she was in third grade she was playing with the fifth and sixth graders. By fifth grade she was first chair, tuning the orchestra, and leading in solos. Over time Maddie added a bit of piano and eventually decided to open her heart to singing.

The first time I really heard her sing a solo in public was at last year's school musical when she played Alice Applebee. I sat in the audience and heard a voice shooting out from a little girl with such joy and strength. She did a great job and her confidence boomed. After the play ran its course, she was hooked. She soon started singing lessons once a week and began to prepare for the next musical.

A wonderful thing she did not consider was singing's importance to her health. Just like the benefits she'd seen from those nights in the physical therapy pool, singing was helping her. You see, in addition to muscle weakness in arms and legs, adult onset Pompe carries the risk of respiratory complications caused by weakening of the diaphragm and other respiratory muscles. If allowed to progress without treatment by ERT, diet, and exercise, Pompe can lead to breathing issues including the use of bipaps at night and potentially respiratory failure.

People say a muscle at rest usually stays at rest, while a muscle in motion usually stays in motion. I don't know if Maddie will ever face these challenges with Pompe, but if the chance is there, why not keep those muscles in motion? After all, what's wrong with the sound of music throughout the house especially if it brings joy to a little girl's heart?

That guitar now hangs in my home office waiting for the opportunity to be used once again. Maddie has been getting ready for her next audition by practicing lines and singing songs. Maybe it's time to pick it up, get it back in tune, and play it beside my little bird, who clearly has more musical talent than I ever will. As I listen to her I wonder if each time she opens those lungs and fills the house with her song, she is looking Pompe disease right in the eye and singing...

But you don't get me, you don't get me!

Encore!
Matt

Credit to: The Beatles, "And Your Bird Can Sing"

Hello Goodbye

2011-11-06T10:46:00.000-05:00

You say yes, I say no 

You say stop and I say go, go, go

Oh, no

You say goodbye and I say hello

Hello, hello

I don't know why you say goodbye

I say hello

Hello, hello

Last July, I wrote the post Two of Us where I first shared the story of Mike Stanzione. As a reminder, Mike is a Pompe patient who has faced many of the same struggles other adult Pompe patients do, but with a twist. While Mike had the same challenges with muscle weakness, respiratory deficiencies, etc., he wasn't able to manage them in the comfort of his home. Rather, due to his 24 hour dependency on a ventilator and his health insurance, he was required to stay in a hospital. The twist is Mike's hospital stay lasted over four years with no end in sight.

When I met Mike last summer I was inspired. I was inspired because despite the steadfast position from his insurance company who said he could not go home, he continued to believe that his stay was temporary. I was inspired by his commitment to wife and son and his family's commitment to him, never giving up, visiting and supplying posters of his young son's achievements. Most of all, I was inspired by the man's spirit. After four years in the hospital, he had every right to pack it in and give up, but he refused to say goodbye.

The day I visited him he had just finished a call from a member of Dr. Barry Byrne's staff at the University of Florida. He was in conversations about a revolutionary procedure where he would be the first person with Pompe to get a diaphragmatic pacemaker. If the procedure worked, it would allow him to breathe without his ventilator for part of the day. This was the key to returning to the only place he wanted to be...home.

Mike's residence was the long-term care area of Bergen Regional Medical Center in New Jersey. This was not a hospital wing filled with the joyful sound of newborn babies. This was a serious place where people with long-term health challenges came and stayed. I don't know what it is like to live month after month and year after year in a long term care center, but I'm sure it is not easy. During my visit I saw people who seemed full of life and others who seemed resolved to live out their days in quiet. I'm not sure what makes the two of them different, but my belief is hope.

Mike had that hope - the hope that one day he would be reunited with his family. Rather than listen to the officials telling him to say goodbye, he chose instead to reach out over the internet for a solution. Through Facebook he found a worldwide network of Pompe patients waiting to help him. He found new people with new ideas and new solutions. This eventually led him to Dr. Byrne and the amazing people at University of Florida's Shands Hospital.

Through the efforts of many, Mike made it down to Florida for that revolutionary procedure. He recovered well and headed back to New Jersey where a great thing happened. Over time, it seemed to work. One day he was able to be off the ventilator for an hour. A few days later it was two and a half hours. Then it started to roll. Four hours became six, six hours became eight, and eight became twelve. His 24-hour dependency was broken and he was finally coming home!

You can read the rest of the story in the web link below:

 NJ Man Suffering From Pompe Disease Returns Home In Medical Miracle

If the link does not work, please copy and paste the following into your web browser: (http://newyork.cbslocal.com/2011/10/18/nj-man-suffering-from-pompe-disease-returns-home-in-medical-miracle/)

I have a feeling that when all the hoopla resides, the welcome home signs are put away, and day to day life returnes, Mike will look back. He will remember those days in the hospital when others told him he would never go home. He will remember the battles he won and the support from his family and friends. Best of all, he will be remember the reason behind it all each time his son walks in, throws his arms around his dad, and says...

I don't know why they said goodbye

I say hello! 

Congrats Mike! 

Matt

PS: To all my friends at University of Florida, Great job! It's a good day to be a Gator!

Credit to: The Beatles, "Hello Goodbye"

Dig A Pony

2011-10-08T18:55:00.000-04:00

I dig a pony
Well you can celebrate anything you want
Yes you can celebrate anything you want
Ooh!

Everything has got to be just like you want it to
Because...

It was a much simpler time when she began. She was young and with the long flowing hair you expect to see on girls in elementary school. The horse was at least three times her size so much so that she needed help just to make it up into the saddle. Once up there she did her best to control something that was clearly much larger and much stronger than she was. At that time we had no idea that the muscle strength she struggled with would later be eclipsed by the strength of her heart to overcome her fear.

I can't remember when she first asked to try it, but I do remember the first time she rode. One benefit of living in the suburbs of Pennsylvania is the availability of horse stables and riding lessons. After some research, we picked a place and pulled into a gravel parking lot next to an aging stable. The stone stable was built unlike anything I saw as a child, but became accustomed to in this area. It was from the 1800s, was surrounded by vast fields, and seemed to quietly hold stories of the many riders who came through from the Civil War forward. To this Southern California kid who has developed an appreciation for local history, it was cool.

We first met Jen Bucy, the owner of Hillside Stables, coming off the ring after helping another young girl learn to ride. This was her stable and came well recommended. She greeted us with a big smile and walked us through her training program. We weren't sure if this would be something our daughter would pickup as a hobby or just a temporary fancy, but it didn't matter. She was looking forward to doing something different and we were happy to oblige. Donna rode horses as a young girl and told stories of great times so it sounded like a fun thing for Emma as well. I did not expect she would come to love it as much as she would.

In the months and years to come we spent many afternoons sitting on the grassy hill watching Emma make circles around the ring. These were idyllic times where the world seemed perfectly aligned for our little one. She was doing something she loved, was in a beautiful environment, and improving all the time. I came to learn that horseback riding was not just an activity, but a bit of a lifestyle. There were many afternoons I dropped her off not to ride, but so she could learn to groom the horses, muck the stalls, and do whatever else you do at a stable. At times I was happy to help out as well, but did my best to let her be. This was her place and her time to live in the beautiful land of innocence that lay all around.

Over time she struggled to get the horses to jump, canter, and all those other things they do. This required strength in her arms, legs, and great posture all of which didn't respond, as they should have. There were other girls that were moving into competitions and even some that got their own horses. This was not to be for our Emma. We had no idea her muscle strength was impacting her ability to do what the older girls were able to. She looked just as good as the others, but seemed to plateau. That was OK for me, but our little competitive one was frustrated.

Months past by when she continued to ride, muck stalls, and spend time growing up next to the gentle giants, but over time the desire faded. We are big advocates of our kids trying many things with the hope of finding a few things they love. When we were younger we saw too many kids get pushed into one endeavor or another, only to get burned out and never return. Our job is not to create an athlete, a musician, or a horseback rider, but to create good people who in the process might just find something they love. So when she nervously came to us asking to stop riding we were surprised, but told her it was OK and recommended we look for something else she might enjoy. Over time that became the clarinet and music.

Fast-forward a few years... These days the clarinet has been replaced by Yoga classes, an appreciation of flower arrangements, and an interest in business and literature. This past summer she held three jobs, building up a bank account and more importantly new friends and experiences. Then, as summer was coming to a close the question came. "Do you think I could try horseback riding again?" She explained that she missed the innocence of those days at the stable, being around the horses, and spending hours just being a kid. She was not concerned with winning competitions or buying a horse. She just wanted to do something she had walked away from, only to realize later it was something she truly loved.

On that first day back, you could tell she sensed the same excitement a little girl once had years before. The stable looked the same, Jen was still there with open arms, but Emma was different. She was not here to relive the past. She was here to look forward. She was here to prove to herself that a little thing called Pompe would never keep her from the things she loved. So, just as she had done many times before, she walked right out of her comfort zone and into another adventure.

I stayed long enough to reintroduce myself and take a quick look around, but quickly realized that this day was to be as emotional for me as it was for her. It meant different things to each of us and she didn't need me around dampening the mood with never ending stories of yesteryear. I so wanted to watch her get on that horse once again and ride around the ring, but she was no longer that 11-year-old girl with the flowing hair. She is a young woman.

I drove away waiting to hear the stories of her grand adventure and thinking. I thought about how the years have past, but most of all I thought about how proud I was of my daughter. While she had every justification to sit on the sidelines, she continues instead to choose the playing field. Who knows where this attitude will take her in life, but I seem to think she will do quite well.

As Lennon and McCartney correctly wrote,

Well you can celebrate anything you want
Yes you can celebrate anything you want

For now she is where she belongs, on the back of a horse amid the grass and trees, quietly celebrating her victory ... over fear. Congrats!

Ride on!

Matt

Credit to: The Beatles, "Dig A Pony"

Here's a photo of Emma at Hillside Stables with her

Pompe InCommon (http://pompeincommon.com/) global balloon,

showing the diverse things people with Pompe can achieve.

Every Little Thing She Does Is Magic

2011-09-13T21:10:00.000-04:00

Though I've tried before to tell her 

all the feelings I have for her in my heart 

Every time that I come near her 

I just lose my nerve as I've done from the start  

Every little thing she does is magic 

Everything she do just turns me on 

Even though my life before was tragic 

Now I know my love for her goes on

The other day I was tidying up the basement and came across a book titled, Don't Sweat the Small Stuff...and it's all small stuff and it got me thinking about our last visit to CHOP. The philosopher in me gets the idea that you shouldn't worry about the little things in life because somehow life continues on past the day to day woes. To be honest, I've preached the same story to my kids over and over again when they would come home with concerns that those of use who are "older and wiser" have overcome without bumps or bruises. Just when I thought I had it all figured out, I learned at CHOP that every little thing Maddie does is magic.

Most of my concerns about the girls' Pompe condition have been about their major muscle groups. It seemed obvious that their leg and arm muscles should be the priority as they deal with the obvious things... standing, lifting, and carrying. Over time I came to appreciate the importance of the muscles in their chests and their relation to breathing especially as I watched them struggle through one pulmonary function test after another. I never thought about the little muscles in your hands that allow me to type this story, text on my phone, or open a jar of salsa (Yes, I love salsa!). However, as I listened to Maddie explain her struggles to her Occupational Therapist my eyes were opened.

It's funny how we take for granted many of the things our body does on a daily basis. From grabbing that first cup of coffee in the morning, to paging through the newspaper, to drumming away on the steering wheel, to typing that first email, we use our fingers. We use them to do just about everything and usually don't think twice about it. For me, I don't think about them until I get the smallest cut requiring a band aid and I wait for the day when they are free again. I never thought a thing called Pompe could impact their ability.

I've observed more than a few Muscular Dystrophy kids with weakness since our girls were diagnosed, but one sticks out in my mind. She was a teenager at the MDA Muscle Summit in Camden, NJ who the girls met right after the day's events were complete. When she introduced herself to me with a sweet hello, I reached down for her hand, not thinking twice about it. I was taught early that looking someone in the eye and shaking their hand was the proper thing to do, but in this case it wasn't. As I picked up her limp hand, she smiled and said her hand just wasn't too strong anymore. I felt about 2 feet tall and apologized, but to her it was OK because it had happened so many times before.

Since then I kind of forgot about the event and focused all my energy on making sure the girls were on the right track. Treatment after treatment went well and CHOP appointment after CHOP appointment showed stabilization or even improvement. Then, during last month's appointment Maddie mentioned her fingers. She explained to the OT that sometimes she struggles to button the buttons on her shirts and to open water bottles. Emma then chimed in to say she is challenged with typing sometimes especially when her fingers get lazy and rest on the keyboard when she wants them to move on. Funny, they never complained and I never really noticed. That's their way, I thought, never complaining, just adjusting.

The OT did a great job listening to them and giving them some great advice such as slightly cutting the button holes or resetting the keyboard controls. After the practical advice he offered something even more important, understanding. He said he understood their frustration and promised to work with them to improve it. He also explained that sometimes he sees people who are really strong, but have weak hands and other times he sees people who are quite weak, but whose hands work well. While he understood their concerns, he asked the girls to remember that while their bodies are weak, they could still do the majority of what they wanted with their little hands. That was not only important, it was magic.

Tomorrow morning when I wake up, grab that first cup of coffee, button that dress shirt and type away that first email, I've promised myself not to sweat the small stuff, but to think about Maddie Jane. I will, because I know that no matter where I am, she will be there fighting on, and because I know that no matter what life brings her, to me...

Every little thing she does is magic!

Stay strong,

Matt

Credit to: The Police, "Every Little Thing She Does Is Magic"

I'm Only Sleeping

2011-08-14T21:18:00.000-04:00

When I wake up early in the morning

Lift my head, I'm still yawning
When I'm in the middle of a dream
Stay in bed, float up stream

Please, don't wake me, no, don't shake me

Leave me where I am - I'm only sleeping

Everybody seems to think I'm lazy
I don't mind, I think they're crazy
Running everywhere at such a speed
Till they find there's no need

Please, don't spoil my day, I'm miles away

And after all - I'm only sleeping

As the youngest of six, I looked up to my older siblings for a variety of reasons, but when it came to sleeping in, Michael was the ace. Of course there were other things that made him cool including his willingness to let his younger brother hang out with the older dudes (as long as I promised not to speak), his skill rebuilding customized VW engines in lightning speed, his fried bologna sandwiches, and his ability to make me laugh so hard my sides would ache. While each of these deserves their own story, except for the fried bologna sandwiches, I'll focus on that teenage boy's ability to sleep.

When I was a pre-teen I struggled to sleep past 8 AM, but Mike would regularly crawl out of his room at 1 PM. Sure, he was six years older and went to bed later than me, but even when I grew up I could not match his skill. For those of who grew up in the big city, surrounded by a never-ending supply of entertainment, sleeping in may not seem like a big deal. Trust me, for a kid growing up in suburban LA this was important. You see, weekend morning after weekend morning his room remained covered in darkness while I ate my Captain Crunch in front of the television wondering when the call would come.

There were many great things about SoCal as a kid, but one of the bad things was the weather. Bad, you say? Yes, bad because since the weather was always nice the weeds just never stopped growing. So while waking up early on Saturday meant you had first dibs on the cartoons it also meant you were the first kid dad would grab on the way out to weed the hill. When I think of that hill now it wasn't that big, but as a kid it was a football field in length and as steep as Everest. Hour after hour I would labor away on the Crowley Chain Gang while my brother slept. I guess I should have been angry, but I was filled with admiration. I thought I was good at avoiding work, but that boy was a genius!

More years have passed than I care to remember and so far my kids have followed my sleeping pattern more than Michael's. After a long week at school or a late night sleep over, they are up no later than 9 AM, ready for the day. Fortunately, our house has no hill to weed so it’s been easy duty for them. The only battle is who gets to choose the cartoons. This all changed a few weeks ago when the girls missed out on their Lumizyme.

About a month ago, their treatment day was approaching like clockwork. The delivery arrived on time, the meds were placed in the fridge, the supplies stashed away in their boxes, and the nurse's schedule confirmed. But then a sinus infection popped up out of the blue. We’ve learned that it is important to be aggressive with infections before they spread to the lungs, as Pompe patients don't have the best pulmonary function. So, off to the pediatrician they went and home they came with a two-week prescription for antibiotics.

We were happy they were on the path to good health until their doctor advised against the Lumizyme treatment because of the antibiotics. I assumed they could get it the next day or next week, but no go. The two-week dose of antibiotics meant they would miss their whole treatment and would have to wait another two weeks. I did not realize how important those bi-monthly treatments were until several days later.

It’s been over a year since the girls started on Lumizyme. From the first days at CHOP to the recent days at home, they have never missed a treatment. Because of this, their diet, and exercise, they have clearly shown improvement in some areas and stabilization in others. We had not seen a decrease in their energy level or ability to get around until we began to see a gradual impact upon on Emma.

It was normal for us to see her slower in the PT pool the day before a treatment, but this four week lull concerned us. In the mornings, we had to drag her out of bed so she could make it to work and in the evenings drag her down to dinner so she would eat before bedtime. She would sleep in every morning, take a long nap after working a four-hour shift, go to sleep early, and repeat the cycle. At the same time, she began to struggle up the stairs just like she had 18 months before. It was concerning. The girl who always got up early and had the energy to get things done was clearly zapped.

Fortunately, two weeks later our home healthcare nurse arrived at the house, the Lumizyme warmed to room temperature, and the IV drip began. Within hours Emma’s energy was back. It was like magic. Within a couple days her sleep pattern returned and her ability to climb stairs was back to normal. Don’t get me wrong, the medicine has not enabled her to race Usain Bolt up a flight of stairs, but it has returned her to the active young lady she is.

When I look at my kids I wonder how they will describe their siblings twenty years from now. Will their older sister be cool because she let her younger brother and sister hang out with her friends (as long as they promised not to speak)? Will their brother be cool because he repaired his sisters’ cars or made a mean bologna sandwich? Will their younger sister be cool because her humor made them laugh until their sides ached? Time will tell. I'm sure each of them will remember a number of special things other than Pompe because the girls' treatments never allowed the condition to change what makes them special to each other.

In twenty years I expect I will still be running around after them, but just a bit slower than I do today. I plan to be there every chance I can to help them out and watch them continue to mature into great people. However, while I love them all very much, I hope they don’t stop by too early on Saturdays mornings expecting me to help weed their hill. By that time, I plan to try once again to see if I can match Michael’s skill and will hang a sign outside my door saying…

Please, don't wake me, no, don't shake me,

Leave me where I am - I'm only sleeping

Wake up! Enjoy the week,

Matt

Credit to: The Beatles, “I’m Only Sleeping”

Freeze Frame

2011-07-31T11:55:00.000-04:00

I could see it was a rough-cut Tuesday
Slow-motion weekdays stare me down
Her lipstick reflex got me wound
There were no defects to be found
Snapshot image froze without a sound

Freeze Frame! Freeze Frame!
Freeze Frame! Freeze Frame!
Freeze Frame! Now Freeze!

I am usually the one taking the photos. Just like my dad, I find it more interesting to take photos than to pose in them. I prefer to be the clown behind the camera getting others to smile or better yet, grabbing that innocent pose they weren't expecting. This interest is helpful, as God did not necessarily grant me a face ready for GQ magazine or the patience to sit and say "Cheese!” Fortunately, I was lucky enough to marry someone whose good looks and patience were past down to my kids so when Genzyme called requesting a photo shoot I was OK to sit back and watch.

Our photographer Chris flew straight from recording the tornado damage in Tupelo and arrived at our house Sunday morning at 10 AM with two bags of camera gear and an energetic spirit. I don't know why, but as soon as I met her I knew this would be great. From her caring manner and true interest in the girls' condition you could tell she was here to do something special, to capture a place in time which we would never forget. Carter and I quickly found ourselves moving camera gear and relocating furniture while the girls settled on their clothes, per the photographer's advice. It was, "Way too much blue," "Green just won't work," "Perfect for you, but what about the location," etc. until we settled outside for the first shots.

A few months ago Genzyme contacted us to see if we would be open to having the girls be part of their Pompe promotional materials. At first I was a bit reluctant. Other than those that follow this blog, their diagnosis has been invisible to most of those around them, which is just fine with me. We made a decision early on that they would remain their own people who happened to have a condition named Pompe, not a patient who is also a person. The decision was taken with the understanding that while this condition may increasingly impact more of their life over time, they will never allow it to impact all of their life. It will never define them.

Our first photos were quick shots of the family - the five of us, the kids, and even a few with the dog thrown in for laughs. Then, for several hours she took photos of Maddie by her garden, Emma and Maddie playing board games, and others. One of her goals was to show the girls in different situations, being mobile, using their hands well, and enjoying themselves. After all, a smiling photo is a message everyone can appreciate.

By the end of the photo shoot we had relocated across our house and backyard several times and shared a few great stories along the way. In the process we learned about her adventures around the world and she learned about our adventures in suburban USA. When she departed there were genuine hugs all around, a phone number to call next time we visit Chicago, and a promise that she would do her very best to produce worthy photos. She could see that our kids held a little magic among them and she wanted to make that come to life.

We recently received a CD of photos and three framed shots for our home. She was true to her world. Behind the shading and the dimension, the color and the location, the magic is there. It is even there among a family (with very good Photoshop skills on dad). It is there in the confident look of girl with her smiling brother and there with the comfort and happiness shared between two young girls who have faced more worry in their short years than necessary.

I'm back to where I belong, behind the camera keeping track of life as it goes by. While I know I will never have the skill of our photographer, the next time I take that shot, and see that Freeze Frame in my view, I'll remember a good day in summer when magic was captured and all was well.

Thanks for the memories Chris!
Matt

Credit to: The J Geils Band, "Freeze Frame"

Here are a few photos from our day.

Two of Us

2011-07-11T19:41:00.000-04:00

Two of us sending postcards
writing letters on my wall
You and me burning matches
lifting latches on our way back home
We're on our way home
We're on our way home
We're going home

You and I have memories
longer than the road
that stretches out ahead

Back in the day before CNN, DVDs, and flat screens, there was something called television. Not satellite television or on-demand television, just television. For the benefit of those who are two young to remember, TVs used to be a big box with one dial, rabbit ears, and channels from 1-13, if you were lucky. Growing up in Southern California’s 70’s, the line-up was simple. Channels 2, 4, and 7 were the networks; 5 and 9 were the locals; channel 6 was PBS; and the others ran programs I usually ignored. During the week, you had Sesame Street and The Electric Company in the morning, and The Brady Bunch and Adam 12 after school. Saturday morning meant Bugs Bunny and Sunday meant Popeye.

In those days you were not able to choose your programming. You simply followed the TV Guide’s schedule or missed it. This was particularly important during the holidays when you had once chance to catch your favorite or you waited another 12 months. From It’s the Easter Bunny Charlie Brown to Frosty the Snowman, you had to watch the schedule or you were stuck watching some cheesy show your mom thought was “cute”. Strangely, I still find myself doing this at holiday time, checking and asking when this show or that show would be playing. I am then reminded by my kids that we have them on DVD or they are running 24 hours a day on cable channel 126.

One program I never missed was The Wizard of Oz. Each Thanksgiving this hit the little screen and we were sure to catch it. From a child’s view, the story of The Wizard of Oz is straightforward. A girl saves her dog, gets caught in tornado, dreams of magical land of strange characters (in color!), and wakes up after learning a lesson. I did not watch for any life lessons or big messages. I just liked to laugh at the Lollipop Guild. However, if you dig a bit deeper you’ll find that the story has a bit more to offer. It is the story of friends searching for things we all crave at one time or another – to be smart, to love, to be brave, and to go home. Last month, I was fortunate enough to meet a man who clearly has the first three and is doing all he can to obtain the fourth.

Mike is a man who several years ago started to struggle when walking up stairs. Like many of us would do, he pushed it aside for a long time blaming it on age, a bad back, and generally a busy life. After all what else could it be? Years went by until he finally visited a doctor. Then came a long line of tests and eventually a diagnosis of polymyositis, an inflammatory muscle disease. He began treatment and continued his life. Unfortunately, the diagnosis was incorrect and the treatment was not working. So he went off the treatment and did his best to manage his condition. Then came the fateful day in 2008 when he arrived in the Emergency Room.

He was taken to the ER complaining of breathing challenges. Upon arrival, he was informed that he had toxic levels of carbon dioxide in his lungs and that his weakened muscles were not allowing enough oxygen to be pumped into his system. They tried an external breathing support mechanism to get him back on track, but it did not work. Before he knew it, he awoke with something that has changed his life - a tracheotomy. A tracheotomy is a procedure which inserts an airway into your neck, allowing a person to breathe without the use of your nose or mouth. The tubing is connected to a machine that controls the level of oxygen and essentially breathes when you cannot. The immediate concern went away, but what he did not know was that this little incision would keep him from home from that day forward.

When I first heard of Mike’s situation I was puzzled. In today’s age of medical innovation, how could someone be forced to stay in the hospital for such a condition? I did not realize how uneducated I was. As I’ve come to learn, a trach requires full time care in case of a blockage or failure. Without on-site care or access to quick emergency assistance, the result could be bad. The trouble is that full time care is expensive and Medicare only offers it two times a week. So, without options, Mike waits at the hospital for his chance to go home. The amazing part is that he does not wait in despair, but with clear focus on his goal. A goal that takes him home to his eight year old son so the two of them can do all the things a dad and young son should do.

I visited Mike in the long term care center of a local hospital recently with some hesitation. Since the girls’ diagnosis we have gone out of our way to meet all the Pompe patients we can and each time I quietly walk away energized or concerned. Each time I wonder if I am looking at the future of my girls or at what life might have been without their early diagnosis and treatment. Eventually, I return to a belief that time is on their side, but some people leave a lasting mark. Mike is one of those.

I have never been a fan of hospitals (except CHOP!) so each time I walk through one, I am not on my game. Fortunately, Mike’s jovial hello and warm smile set my fears aside. When I entered his room, the hospital environment was quickly replaced with connections to his son. There were photos of his son at home and at church, by the pool and on the baseball field, with his mom and with Mike. There were letters and artwork, and posters everywhere. Each showed a young, smiling boy full of life. Mike’s reason to return home was clear.

During our visit we spoke about his son, his wife, the Yankees vs. the Mets, our mutual Pompe friends, my kids, his plans to get home through new treatment options, and his son, once again. After a few minutes I forgot about hospitals and trachs. I forgot about Pompe and long term care centers. This was more than a hospital visit. It was two dads who had never met each other, yet shared something unique. After an hour or so of chatting, Mike’s brother arrived for his regular visit, so I thanked Mike, wished him the best, and made my way home. As I walked out his room and past the other patients in the building, I thought about being a kid and watching The Wizard of Oz.

If you recall the end of movie, the Scarecrow, the Tin Man, and the Lion finally realize their goal. Across their whole adventure, they believed only a Wizard could bestow their wishes, but they found they only needed a chance to use their skills to benefit others. Mike’s chance is not coming in the form of a hot air balloon, or ruby slippers, but in an RV. Yes, he is headed off soon, away from the hospital, and on his own adventure which will hopefully bring him one step closer to his goal. I know this is not a Hollywood movie where everything works out in the end, but my hope is that one day he, like Dorothy, will be able to wake in his own bed, with his family by his side, and tell them, “There’s No Place Like Home.”

Keep up the fight my friends!

Matt

Credit to: The Beatles, “Two of Us”

Once In A Lifetime

2011-06-27T14:49:00.000-04:00

And you may find yourself living in a shotgun shack
And you may find yourself in another part of the world
And you may find yourself behind the wheel of a large automobile
And you may find yourself in a beautiful house, with a beautiful wife
And you may ask yourself-Well...How did I get here?

Letting the days go by, let the water hold me down
Letting the days go by, water flowing underground
Into the blue again, after the money's gone
Once in a lifetime, water flowing underground

Wikipedia defines déjà vu as the feeling that one has already witnessed or experienced a situation. While I don't believe in previous lives, old souls, and all that stuff, I must admit to having that déjà vu feeling before. While strange, it can be somewhat comforting especially when you try to figure out what to do next. If I have been here before it must all work out, right? Unfortunately, I could not find a definition for the feeling you have when you realize you have just driven a few miles on a familiar highway without thinking. Or, that feeling when you are taken back by sad news you never expected. When these times happen, you take a look over your shoulder and say, “Well...How did I get here?” Last Saturday was such a day.

I fondly remember summer camping trips when I was young. Each year, my mom would load up the tent trailer with food, my dad would tie 112 bikes to the top, and we were on our way. Sometimes, we would take a long drive into the woods and spend our nights shooing away the mosquitoes, but most times we would find ourselves at a seaside campsite a few short hours from home. Fortunately between our large family and our cousins, there were always many kids to play with and plenty to do. Each morning began by sitting at the picnic table for cereal, each day filled with adventure out in the water, and each night finished around a campsite listening to the adults talking about the old days. If you were to drive by our site during that week you would not have seen anything special, just an old tent trailer and a tent or two. It may not have been anything impressive to the eye, but I guarantee you that for a little boy, it was magical.

A few months ago the girls were invited to attend the MDA's local summer camp. In between appointments at CHOP, the rep told them all about the fun they would have, the friends they would make, and the gentle feeling of being with other children all leaving their daily concerns behind. She said others raved about their stay with terms such as "best week of the year", "well worth it", and "Once in a Lifetime!" We are not much of a camping family these days. We have spent a weekend or two at the local KOA campground, but not regularly and never in a summer camp environment. As our family resides on the west coast, we tend to spend our summer vacations there, far from tent trailers and far from the Pennsylvania woods. So, when they heard about it, they jumped at the chance.

Last Saturday was drop-off day for the campers. We had prepared over the previous weeks by gathering all the necessary supplies and speaking with the girls about the week ahead. We knew this would not be the camping trip I remembered as a child for a couple reasons. First, we would not be there with them and second, they would be surrounded by kids facing sometimes similar and sometimes much more severe muscular challenges than theirs. We wanted them to be prepared for what they may see and what they may feel.

As any parent, it is always a balancing act between preserving innocence and opening the door to the real world. This has become tougher for us over the past year or so as we found ourselves dealing with issues we never expected. Our kids continue to amaze us with their strength and commitment, but we did not want to leave them on their own, separated into difference cabins, without preparation. There were times they were 100% committed to go and a short time when they were worried. What I found interesting is they did not resolve this concern by only speaking with us, but by discussing it themselves. While we were busy doing dishes they were upstairs discussing their fears and decided to face them together. When I was their age camping, I was busy trying to decide between Sugar Smacks or Captain Crunch, never anything like this. When we heard them we knew it was time to let them walk the balance beam on their own.

When we drove in and parked our car, I saw what I expected: a few kids in wheelchairs, a happy group of volunteers, and a beautiful campsite. There was a grand hall, gymnasium, a pool, and a series of cabins. I told myself to relax; this is going to be great! But when we entered the registration hall, it hit me. Suddenly, we were surrounded by doctors and nurses, children of all ages with severe muscle disease and weary parents carrying boxes of medication that their kids must take each and every day. I had met these people before at events and had spoken to them about our story, but this was different. This was not my story. This was theirs and I felt like a foreigner.

I couldn't stop asking myself how we got here and where the days had gone. It seemed like only yesterday that I was walking Emma to first grade with a huge smile and without a care in the world. Everything was going great. It was the American dream…three healthy kids, a great marriage, good job, and a new house. I never could have predicted this one.

In the middle of my irrational moment, I caught a site of the girls’ faces. They were laughing with their counselors and smiling for pictures with the other kids. They did not feel like foreigners, they felt like they belonged. I realized then that all the while we had prepared the week for them, I had not taken a moment to prepare the week for me. I had not taken the time to realize that while this would not be the seaside campground I remembered as a child, the magic of camping was still all around. This was their magic. The one they would remember for years to come.

I don’t think my experience is unique to summer camps, muscle disease, or Pompe. Each of us has had our own moment when we look over our shoulder or into the mirror and wonder why. This could be over the illness of a child, loss of a parent, a job, or any other thing that was truly unexpected. Each of us has our own cross to bear and the beauty of life comes from how we live with it.

We did not hear from them all week. This was not because they were discouraged from calling home, but because they were too busy having a blast! Unfortunately I was not able to be there for pick-up day, but Donna told me there were lots of tears, lots of hugs, and lots of promises to come back next year. As soon as they got home, they had several new Facebook friends and even more stories to tell. When I asked them to look back and sum up their week, the message was clear. It was...

Once in a lifetime!

Stay positive,
Matt

Credit to: The Talking Heads, "Once In A Lifetime"

I Fought The Law

2011-06-21T23:19:00.000-04:00

Breaking rocks in the hot sun
I fought the law and the law won
I fought the law and the law won
I needed money ‘cause I had none
I fought the law and the law won
I fought the law and the law won

I left my baby and it feels so bad
I guess my race is run
She's the best girl that I ever had
I fought the law and the law won
I fought the law and the law won

I'm not much for reality TV in general. I try to shy away from the Real Housewives of Orange County, the Jersey Shore, the Bachelor, and especially Toddlers with Tiaras. Seriously, what is up with those moms? However I must admit once in a blue moon I've been captivated by Lock Up on MSNBC. This is the show where they visit one crazy, scary prison each week and talk about life behind bars. I usually cannot make it through an episode before I have to recheck all the locks, pull the covers over my head, and furiously count sheep before I head off to sleep. So, you can imagine my fear when Donna mentioned a MDA fundraiser named Lock Up.

She explained that the MDA contacted us to participate in a fundraiser where we would be locked up until a local person raised enough money to set us free. I'll be honest that in some strange way I've gone from postponing MDA events to looking forward to them. Standing in front of a crowd and telling our story is a bit cathartic, but taking my family to some prison and getting locked up did not sound like fun. I've seen those guys on TV and they may be twisted, and maybe even interesting, but never fun, but OK...

At the day of the event I punched the address into my GPS and surprisingly arrived at a local restaurant, not a prison. I was thrown off when we had to take photos behind bars, but was happy that we were immediately set free. When I walked in, found the buffet, fresh coffee, and no scary guys with handcuffs I felt even better. What I learned is that the MDA has run these events with local business people for years. The gimmick is not that we were locked up, but rather the business people are. They agree to raise a few thousand dollars and show up at the restaurant to make calls until they reach their quota. Our job as members of the patient community is just to thank everyone for coming and explain how their efforts can impact a local family.

In the end, there was no parole board, no gray walls, and no scary guys. There was just a welcoming environment filled with people doing their part to make the world a little better. Perhaps I should keep this in mind next time I pass by MSNBC and on my way to the Survivor.

Scroll below to see our mug shots.

Happy summer,
Matt

Credit to: The Clash, "I Fought The Law"

Getting Better

2011-06-10T23:44:00.000-04:00

I've got to admit it's getting better

It's a little better all the time

I have to admit it's getting better

It's getting better

Since you've been mine

They say misery loves company. Unfortunately, I’ve sometimes found this to be true when it comes to people facing the tough issues in life. It is far too easy to play the victim and become bitter instead of looking the challenge in the eye and daring to fight on. There’s no doubt that life with a chronic disease is not all wine and roses. I see it in my own house when days filled with exhaustion or weakness can darken the brightest mood. While I wish these days never came my daughters’ way, they will continue. However, when those days arrive I ask them to get back up and remember a time when the light shined and filled them with hope. Fortunately for our family, the sun always shines in Gainesville.

About a year ago we took our first trip down to Gainesville, Florida to meet Dr. Barry Byrne. Dr. Byrne is a leading expert in the study of Pompe disease and continues to be an inspirational guide for our family. In the early days when we found ourselves drowning in all the details of Pompe, Dr. Byrne was there to hold our hand, calm our fears, and get us back on track. Because of his guidance, we not only started ERT treatment with our eyes wide open, we also signed up for a series of clinical studies through his lab at the University of Florida. These include a long-term observation of those with cardioskeletal myopathy, CRIM status study, effects of immunogenicity for those taking enzyme replacement therapy, and others. Our goal for these studies is to learn more about the progression of this condition and somehow play a role in improving knowledge for others.

One of the requirements of the observational studies is to visit the University of Florida over the course of five years. While this may seem like a chore for some, Dr. Byrne and his staff are outstanding professionals and even better people, so making the trip has become a time for us to recharge for the Pompe challenges ahead. So what does one do on such a trip? We spend two days walking from side one of University of Florida to another with stops to complete MRIs, pulmonary function tests (PFTs), physical therapy studies, and hold discussions on the latest research and promising therapies in the future. Last year brought us an education, but this year brought us even more. This year brought us signs that things are getting better.

Day one started early with Sarah meeting us in the hospital lobby. The agenda was clear. Donna and Carter would be joining Emma’s adventure into PFTs and physical testing while I followed Maddie to the MRI building. While Maddie lay in the MRI machine for nearly two hours having her legs analyzed and watching Finding Nemo, I chatted with three members of the team. We talked about their life at University of Florida, their research, our life with Pompe, Gator football, and debating whether Nemo is the best Disney movie. After we finished, we all met up for a lunch sponsored by Genzyme. This was an expected opportunity to catch up with the staff we haven’t seen for a year. Lucky for us it was also a chance to meet a couple other Pompe families.

The first family had a young daughter who was diagnosed with Infantile Pompe. They brought her at a very weakened state and under his care has rebounded. Her parents spoke about how happy they were to be there and their thankfulness for the team. The second family is one we have been looking forward to meet for some time, George and Gina Fox. Their son Phoenix has the infantile version of Pompe as well, but is several years older. Their family was there to prepare for a game-changing event – gene therapy. Like some Pompe patients, Phoenix’s weakened diaphragm does not allow him to breathe on his own so he uses a ventilator. Gene therapy is an experimental process where modified DNA is injected into a specific area so it will allow the body to replace the genes which are missing. The goal of this specific process is to strengthen the diaphragm to a point where he can have increased breathing capacity. If this is successful, it would be a major step forward for Phoenix and for many others across the Pompe community. As we spent time with the family over the course of two days, we could see the love George and his wife have for their son and their commitment to make things better. (For more information on Phoenix Fox and the gene therapy work at UofF, please click the following link: the-promise-of-a-new-home.)

Day one continued with a few more tests and then dinner with the UofF team and an Aussie named Brad. We pulled up to dinner at Satchel’s Pizza (http://www.satchelspizza.com/), and arrived at one of the most interesting pizza spots ever. Satchel’s is a mix of 60’s throwback artwork, the Sanford and Son salvage yard, and pretty good pizza. After touring the shop, watching the kids play on the playground and wandering the parking lot’s artwork/salvage yard, we climbed into the tree house with Dr. Byrne and members of his team and their family for dinner. Tree house? Of course! Where else would one eat pizza in Gainesville?

So back to our Aussie friend... Brad is a native Australian who was recently diagnosed with adult onset Pompe at the age of 44. After months and months of campaigning to the Australian government, they refused to cover the cost of Lumizyme, so he found his way into a new six-month clinical trial. He left behind his wife and kids Down Under and headed to sunny Florida where he will stay until September completing the requirements of the clinical study. Moving across the globe to spend 6 months alone may sound crazy to some, but when your choice is fighting to improve your life for the benefit of your wife and kids vs. waiting to become wheelchair bound the choice was clear to Brad. As with any decision in life, there results are not guaranteed, but this way the odds are in his favor. It was great meeting Brad, hearing his awesome accent, and gaining a sense of his commitment to his family and to others with Pompe. Meeting him was particularly good for Carter because they were able to discuss hunting alligators and boxing kangaroos. How cool is that?

Day two began with a switch with Emma off to the MRI and Maddie to the physical therapy lab. Fortunately Emma’s MRI process went quicker and we had some down time to spend with the great physical therapy team including Donovan. I’m not quite sure how to describe Donovan unless I take a bit of Jim Carey, a bit of Dwight Schrute (from The Office), and whole lot of childhood energy. Donovan runs the physical testing lab and somehow makes pushing your feet this way and bending your arm that way, one of the funniest things you’ve ever done. I know funny and Donovan is funny. The kids laughed all the way through their exams and by being so relaxed their results came back better than last year. Wait! Maybe there is a method to his madness?

At the end of day two the Crowley clan joined up with Dr. Byrne, Brad, and George at La Tienda, our favorite Mexican food restaurant this side of El Farolito in Placentia, CA. After a great dinner and great discussion about life, George headed off to the hospital to see Phoenix and we headed off to Mochi for dessert. Last year Dr. B introduced us to Mochi, which is a frozen yogurt place where you have the option of various toppings from Trix cereal to fresh fruit. After we enjoyed it last year and Dr. B surprised Maddie on her birthday with a freeze-dried package of Mochi yogurt, we promised ourselves we would return. It was a perfect way to bring our trip to an end. Here were a group of friends, one from Florida, five from Pennsylvania, and one from Australia, all laughing about the past two days, talking about all the exciting things going on in everyone’s lives, and promising to see each other soon.

As we drove away the next morning, heading back to our regular life in PA, we were a bit sad. Somehow our unexpected adventure with Pompe has awarded us the opportunity to enter the lives of some fantastic people and we wished we could be around them a little longer. We must have done something right to meet people who share such a noble goal of improved health for those fighting Pompe and who pursue it with love, inspiration, commitment, and laughter. So thanks to the entire UofF team: Dr. Byrne, Lee Ann, Sarah, Donovan, Jenna, Lindsay, Barbara, Dawn, Stacy, and Soren. We hope to see them again soon and wish the best to the Fox family and to Brad as they continue their battles.

If you are ever in the neighborhood, I recommend you drop by Shands Hospital at the University of Florida. It doesn’t have the fountain of youth or a magic medicine to cure all your ills, but it does have some great people who have once again convinced us to keep our hopes up because with their help the future will continue to be…

Getting so much better all the time!

Thanks to all and Go Gators!

Matt

Credit to: The Beatles, “Getting Better”

Strawberry Fields Forever

2011-05-31T21:23:00.000-04:00

Let me take you down

Cause I'm going to Strawberry Fields
Nothing is real
And nothing to get hung about
Strawberry Fields Forever

Living is easy with eyes closed
Misunderstanding all you see
It's getting hard to be someone
But it all works out
It doesn't matter much to me

Shortly after we moved to the East Coast we built a small garden at the end of our driveway so the kids could grow vegetables and we could see progress each time we came home. With our neighbor’s help, we built the outline with railroad ties, secured the base with spikes, and added small seats at each corner so the kids could sit and plant or just sit and enjoy time with their achievements. We had no intention of securing a food supply for the next natural disaster or becoming organic farmers. This was just your normal small garden so we could bring a bit of country into the suburbs.

Over the years the garden has produced chives, lettuce, tomatoes, eggplant, zucchini, and even a pumpkin or two. There were years in which it thrived with activity and years in which it laid dormant waiting patiently for the next season. What has been interesting is that while each planting and harvesting season past only one item remained behind, quietly battling the elements. As the garden became covered in fall's leaves, winter's snow, and spring’s pollen, the one crop that continued to fight and continued to survive were strawberries.

Since the moment of Maddie's diagnosis with Pompe in November 2009, our lives have been turned upside down. While the grass continued to be cut, and the flowers continued to be watered, the thought of taking care of anything else was a too much to handle so the garden filled with weeds. This became somewhat of a symbol for our life. From far away everything looked fine, but as you got closer you could see that weeds were eating away at the very soil which was supposed to nourish us. Here we were living on the East Coast, 3000 miles from our family, facing the toughest challenge we had ever faced, and wondering why we were here. Why had we found ourselves so far away from our family when we needed them most? There were many days we wanted to leave those weeds behind and head back to sunny California with the hope that things would be better or at least easier. But, despite the pain, we knew we were here for a reason and we had to find out why.

During the past year, sometimes I would walk over to check out the garden and think about life. Occasionally, I would even pull a few weeds and sweep up a bit of the mess. I did not do this for the good of the soil. I did it for the kids so they could see that it was healthy and that one day it would return to full bloom. Curiously, as I did this I noticed that almost everything had disappeared into the soil after the harsh winter except for the strawberries. Despite the weeds, the weather, and the disrepair, the strawberries held firm, spreading across the garden on their own, almost to say, “You can’t get rid of me that easy!”

This always made my smile because as a kid growing up in Southern California I fondly remember stops at the strawberry fields and purchases of boxes and boxes of strawberries. I remember my mom preparing them along side pound cake and whipped cream because that was my dad’s favorite dessert. As I got older and we moved to Northern California, I remember driving along the road near our house and watching the men and women toiling in the strawberry fields. From afar it seemed that they took care to move, plant by plant and check if they were healthy, if they were strong, and if there were ready to be set free.

A couple weeks ago Maddie and her friend approached Donna and asked if they could take over the garden this year. They said nothing had grown last season and they had some ideas to make it better. We responded with a resounding “Yes”, but before they could plant we would need to clean it up. As usual, Maddie was five steps ahead and already had a plan. Over the next few days, in between school, sports, music, and everything else that seems to fill a kid’s lives these days, she squeezed in gardening. Bit by bit, she cleaned out the weeds until all of them were gone. Then she came across the strawberries. I did not tell her what to do with them, whether they needed to stay or needed to go. It was her garden and her choice.

When I came out one afternoon to check on her progress I was surprised. Rather than taking the easy way out by clearing everything with a rake and starting new, Maddie had decided that the strawberries needed their own place to shine so she separated the garden in two. Painstakingly, she dug up each wayward strawberry plant and brought them back to where they were originally planted, back to their friends. Her logic was if they were together they could grow stronger and healthier. I couldn’t help but smile as I was taken back in time. Just like those men and women I had watched years before, she went plant by plant, took care to check if they were healthy, if they were strong, and if there were ready to be set free. Doing so, she was making a quiet statement. It was a quiet statement to Pompe and to each and every little change the last two years has brought us. “You can’t get rid of me that easy!”

A few days later we took Maddie and her friend to the garden store where they picked out fresh soil and their vegetables for the year. They chose lettuce, tomatoes, cucumbers, basil, and a few cayenne peppers just to “make it spicy," she said. Later that day they tiled the soil, planted their new crops, placed the little markers by their side, and watered away. Since then, they have closely monitored their new garden watching for all signs of growth and looking forward to a strong harvest.

I must admit the garden looks a lot better than it has for the last couple seasons. It is full of life and full of promise. It’s funny how a little plot of dirt has made me think the same about our life. Yes, we are still 3000 miles from our family, but it’s OK. We are now only 35 miles from the best doctors and nurses at CHOP, only a two hour flight from our University of Florida based support team, and a just a short distance from friends who have become our family. We are here in the land of cheesesteaks and Rocky movie fanatics for a reason. We are here because this is where our kids will get the best medical care and because they are growing up at a pace that reminds us of our youth. We are here because fate has planted us here.

We have been given a choice, a choice to let weeds grow or like our strawberries, a choice to look adversity in the eye and say, “You can’t get rid of me that easy!” Thanks to a little girl and her innocent actions, we’ve decided to stay. Sure, we still miss our family deeply and wish they were here by our side, but if Maddie is ready to bloom where she has been planted we are too. So, if you have time this summer, and don’t mind some home grown strawberries, drop by with some shortcake and whipped cream. You’ll find us at the end of the driveway, gloves in hand, singing...

Strawberry Fields Forever
Strawberry Fields Forever
Strawberry Fields Forever

Stay strong!

Matt

Credit to: The Beatles, “Strawberry Fields Forever”

Homeward Bound

2011-05-22T01:06:00.001-04:00

I'm sittin' in the railway station
Got a ticket for my destination
On a tour of one night stands
My suitcase and guitar in hand
And every stop is neatly planned
For a poet and a one man band

Homeward bound
I wish I was
Homeward bound
Home, where my thought's escaping
Home, where my music's playing
Home, where my love lies waiting
Silently for me

In Good Day Sunshine I wrote about a family that loaded up a car with their hopes, fears, and lots of prayers and headed out on a new adventure at CHOP. I wrote about a family who started an adventure which they never wanted to take nor anticipated. And, I wrote about a family whose children faced their adversity with such grace and strength that a father would never be the same. Just over one year later those car rides will be coming to an end and a new adventure will begin. That family is Homeward Bound.

I write today about “that family” because so much has happened over the past year that it is hard to remember what things were like before. Sure, the big events are clear, but the little concerns and issues have washed away. When we unexpectedly departed that plane in Holland instead of Italy we found a strange world, but also one with wonderful views and wonderful people. I never could have predicted those wonderful views were first seen at a little place called Day Medicine in The Children’s Hospital of Philadelphia.

At day one, the goal was to have the girls infused at home. From our earliest meetings the benefits were clear. Home infusion would allow the girls to be in their own environment instead of a sterile hospital ward. Home infusion would allow them to relax, which they could never do in a cold hospital room. And, home infusion would remove the anxiety that naturally comes with spending anytime at the hospital. All of this made perfect sense until that first day at Day Medicine.

To say we found things we never expected is an understatement. Sure, we did not expect to have a room to ourselves or individual TVs and video games. We also did not expect to have free internet or a great coffee place just downstairs. These were nice perks, but meant nothing once we met the staff of Day Medicine. From the moment we entered the wing to see Jackie dressed for Wacky Wednesday, Kate’s smiling face with a Polaroid camera in one hand and arts and crafts in the other, and Barb’s soothing and supportive tone something told us the girls would be OK. When their first infusion of Myozyme was started and the normal operations continued at Day Medicine we were struck. This was not the sterile hospital ward we were expecting and this was not the hospital staff we had seen so many times before. This place was different.

If you have read this blog in the past you surely have come across a story here or there extolling the wonders of CHOP. You may have even read with a smirk on your face wondering if the writer had both oars in the water. After all, this was the U.S. medical system that we all hear so many bad things about. Sure, this it is not Disneyland, but if you have had a chance to spend the day with us in Day Med, you too would be a believer. This is a place where miracles occur and magic happens. This is a place where fear and pain are replaced by confidence and power. This is a place where we built friendships, grew as a family, and a place we cried as we departed.

After lots of hard work by the teams at Genzyme, CHOP, and Aetna, the girls will begin home infusion next Tuesday. No longer will Mom and the girls need to load up the car every other Wednesday, miss school for a day, and head into Philly. Instead, they will be able to take in a half day at school and receive their infusions in their own house. They will be able to walk into their own kitchen, spend time with their friends in their own yard, and rest in their own bed. The benefits are clear especially for school. Like any kids that regularly have to miss school for events like ours, a never ending cycle of catch-up occurs. The school district has been very supportive, but missing two days a month is a struggle as classes continue when they are not there and homework builds up. This had lead to many late nights and sleepy mornings especially for our High Schooler.

What are the benefits of home infusion for Mom? While we focus so much energy on the girls and their sacrifices, I do not want to forget the one who continues to make this all happen. Mom has been the silent soldier through this whole process, sacrificing her time to take the girls wherever and whenever they needed. She quietly leads the family through the sea of insurance paperwork and gasoline bills while still finding the time to prepare a dinner so everyone had a warm meal at the end of treatment day. With summer on its way and everyone out and active, this could not have come at a better time for my wife who is just a little extroverted. The winter blues are quickly washed away with a few good days in the sun and I don’t want her to miss any.

So, what are the details? Well today we will receive 36 vials of the magic medicine, a couple IV pumps, and miscellaneous supplies from our friends at FedEx. Those vials will quickly take precedence over the containers of butter and jam in our refrigerator as they need to remain cold until mixing. The IV pumps will be set aside in a convenient place so they do not disturb our daily life, but are easy to come by when needed. Our new home infusion nurse arrives Tuesday morning and will spend the day with us. Through some heavy lifting by the team at Genzyme, we have been able to secure the services of Adam who has been infusing other patients for years and is praised as a “great guy” by some reliable sources. As we will be inviting a stranger into our house with the hope he will become part of our expanding family, I’ll take the “great guy” recommendation as a sign of good things ahead.

I’ll stop here about the next step in our Pompe adventure. I know there will be many stories to tell over the next year and I will let them develop as so many more have before. What I will do is take you back to our last day at Day Medicine. That last day I arrived a bit late, in time for lunch and to spend some time before the girls were discharged. As I entered I found Maddie and Kate in their usual place, side by side in the craft room laughing away. Kate, understanding the emotions of the day, looked at me with a “please don’t go there” face and explained that her and Maddie were going to finish every craft in the room before our stay in Day Med came to a close. As I came across the rest of the staff, everyone said hello knowing today was our last, but then were off to make another child’s day special.

When the last of the Lumizyme was infused and the last of the flush was done, we were surprised by our Day Medicine team with teary eyes, big hugs, and a “We will miss you!” cake. It was at that moment that I was hit with a mix of sadness and joy. I fully expected the sadness because at one of our weakest moments these people lifted us up with their laughter, their support, and their love. They lifted us up when we did not think it was possible and helped carried us to a place of hope and determination. I wasn’t expecting the joy until I realized that it was not an end, but just a new chapter. We may not see them as much as we like, but we will pop in every time we are at CHOP and know that if we ever need them they are only a call away.

As Donna’s uncle once told us, “I never say goodbye because that sounds permanent. I choose to say, until next time.” So to all our friends at CHOP Day Medicine we wish you a very special “Until next time.” We will be thinking of you next Tuesday as we open the new chapter in our lives. Please know you are always welcome in our home because you are family. And please know that we will try to recreate some of the magic during our new chapter which will finally place our girls…

Home, where my thought's escaping
Home, where my music's playing
Home, where my love lies waiting
Silently for me

All the best,
Matt

Credit to: Simon and Garfunkel, “Homeward Bound”

Please click here to watch a video of our days at CHOP.
After hitting "Play", click the lower right for full screen.

Stand By Me

2011-05-16T22:44:00.000-04:00

When the night has come

And the land is dark

And the moon is the only light we’ll see

No, I won’t be afraid

Oh, I won’t be afraid

Just as long as you stand, stand by me

I haven’t written too much about our son Carter. Maybe it’s because he has enough to manage as the big brother and maybe it’s because I wanted to keep him away from the attention. But, after his eighth grade chorus class sang Stand By Me, a post stuck in my head. Whatever the reason, today is his day and it is well deserved.

Carter has the good fortune and the misfortune of being the only boy stuck between two sisters. The good fortune part the deal is threefold. First, he doesn’t have to compete with his brothers for the biggest eater, strongest wrestler, or best joke teller like I did (and lost on all accounts). Second, he doesn’t have to share Dad’s attention for his lacrosse and football games. And third, he is close enough in age to eventually date both of his sisters’ friends two years older and two years younger. From the viewpoint of a guy whose only sister was out the door by the time he knew females existed and whose brothers were more interested in heavy metal and car racing; this is not a bad position to be in.

The first part of the misfortune is not much different than the challenges any boy who has one sister knee deep in teenage land and another at the door waiting to enter does. These include sharing one bathroom, dealing with crazy emotions, too many shopping trips, and lots and lots of hair products. Fortunately, he has a great sense of humor and much better hair than I ever did. I can’t think of a day when we haven’t laughed as a family listening to one of his stories, one of his jokes, or watching him flip his hair over and over until the right moment when the flow was just right.

However, when you peel back the misfortune side further you’ll find it’s a bit more complex. He sits between two girls with a genetic disorder he doesn’t have. He sits between two girls whose Pompe disease management has transformed a normal home into an insurance processing center, a diet and exercise haven, and eventually a home infusion wing. And, he sits between two girls and sometimes quietly worries what the future will bring. This last point became most evident in a discussion we had where he expressed concerns about the future. He wanted to know what the years ahead will bring for his sisters and what he will need to do. He wanted to know how strong he would have to be when we were no longer here to help them, guide them, and advocate for them. He’s convinced that one day he will need to stand up for them. He just wanted to know how tall he would have to be.

As you can imagine, this is not the kind of conversation you want to have with a fourteen year old boy. Fourteen year old boys should be spending their time thinking a little bit about school, a little bit about sports, and a little bit about girls. If they are thinking about their future it should be planning out whether they want to be a professional baseball or football player, not caregiver. I guess his feelings are not unique out there. I’m sure there are quite a few brothers and sisters who watch their siblings struggle along and wonder why not me. They wonder about the future and worry what it will bring for their family. I try not to get sad by much, but this makes me sad. A parent’s job is to share the joy of their children and carry their burdens when necessary. This is what my parents did and this is what we will do. Our children are not meant to worry about such things. Our children’s job is to be children.

I’ve thought a lot about wishes these past two years. When I was a kid, I wished big each time I blew out the birthday candles. Occasionally, I even asked God for a new bike or G.I. Joe while everyone else at church appeared to be in serious prayer. Heck, why not try since the big guy was listening anyway? These days my wish is a bit more focused. My wish is when my girls are old and gray they will sit down with their brother, look back on all this Pompe talk, and wonder what the fuss was all about. They will be healthy as can be because some great treatment or maybe some great cure will have made Pompe as serious as indigestion. They will look back, think about their long past struggles and remember that when the times were tough and they needed support, their brother was there to hold their hand, pick them up, and tell them…

You won’t cry, you won’t cry

No, you won’t shed a tear

Just as long as you stand, stand by me

All for three and three for all!

Best,

Matt Crowley

Credit to: Ben E. King, “Stand By Me”

I Love To Laugh

2011-04-26T23:08:00.000-04:00

I love to laugh

Loud and long and clear

I love to laugh

It's getting worse every year

The more I laugh

The more I fill with glee

And the more the glee

The more I'm a merrier me

Most of what I've read about Pompe Disease and fatigue relates to respiratory issues. According to pompe.com, "Most people with Pompe disease eventually experience breathing difficulties. These difficulties may start out mild, and it may take some time before patients or doctors recognize them. Pompe disease often results in a weakened diaphragm, the large muscle located just below the lungs that plays a crucial role in breathing. A weakened diaphragm makes it hard to breathe deeply and get enough air into the lungs, especially when lying down, ... eventually leading to respiratory insufficiency."¹

Fortunately, our girls have performed well on their PFTs (Pulmonary Function Tests) to date and have even shown improvement in some areas. However, we have occasionally seen Emma affected by fatigue between treatments. This seems to follow a regular pattern. She starts out with lots of energy after her Lumizyme treatment and then begins to feel tired a few days before her next. As soon as her treatment is done, she's back to old Emma, full of energy. Along with her bounce of energy comes another side effect, laughter.

If you've seen the movie Extraordinary Measures you may remember the scene when the kids receive their Myozyme treatment for the first time. The parents and Han Solo, sorry Harrison Ford, are standing outside the room wondering if the treatment will work and off in the distance they hear laughter. When they rush to the room, Indiana Jones, sorry Harrison Ford, tells them they are laughing because the glycogen is being released from their muscle cells. They are laughing because they are experiencing a sugar high. We have never experienced this result at the hospital, but have seen our share of giggles on the way home.

Growing up as the youngest of six kids with a dedicated mother and a serious, yet witty father gave me a few strengths. One is resilience and another is humor. My dad was a serious guy when it came to solving problems, but had a dry sense of humor the rest of the time. He was famous for his outrageous questions at the dinner table especially when a new friend or fiancée decided to stay for a meal. Out of nowhere came questions about the day’s events or his kid's past that were delivered so logically that our guest was almost forced to agree. This was followed by raucous laughter, a humble apology by my dad, and a lighthearted dinner. Somehow this has made its way to our dinner table many years later and many miles away.

We are not sure what respiratory challenges Pompe may bring to our girls in the years to come. We do know that many of the adult patients we've met use a BiPAP machine while they sleep to ensure proper breathing. At the same time, we hope our combination of exercise, diet, enzyme replacement therapy, and a fighting spirit will keep that BiPAP machine at bay. Whatever happens we will face it with strength and with a little humor. While it may sound silly to some, laughter may not be the best medicine for all cases, but it sure does help.

So, the next time you're a bit tired, feeling a bit down, or maybe even have some fresh Lumizyme rushing through your veins, stop by the Crowley house after the girls' treatment. We'll likely be sitting around the table, laughing about stories from our day, and maybe even singing...

We love to laugh

Loud and long and clear

We love to laugh

So everybody can hear

The more you laugh

The more you fill with glee

And the more the glee

The more we're a merrier we!

Credits:

Mary Poppins Soundtrack, "I Love To Laugh"

¹ Pompe.com, http://pompe.com/en/patients/managing-pompe/managing-symptoms/breathing.aspx

Sunday Papers

2011-04-10T06:22:00.001-04:00

You can read it in the Sunday papers,

read it in the Sunday papers

Just a short update this time around.

As mentioned in my last post, Whats So Funny 'Bout Peace Love and Understanding?, Dr. Lisa Sanders of the New York Times has written an article about Maddie's diagnosis.

The article was released in today's New York Times Magazine. Please check out the link here, New York Times Magazine. Better yet, go pick up a fresh copy, a large coffee, and enjoy the read!

All for two and two for all!

Matt

Credit to: Joe Jackson, "Sunday Papers"

What's So Funny 'Bout Peace, Love and Understanding?

2011-03-29T22:30:00.000-04:00

As I walk through  

This wicked world  

Searchin' for light in the darkness of insanity.

I ask myself 

Is all hope lost?  

Is there only pain and hatred, and misery?

And each time I feel like this inside 

There's one thing I wanna know

What's so funny 'bout peace, love and understanding?

I believe in the power of the written word. At best words can increase understanding, offer enlightenment, and in some cases even bring healing. An increased understanding of Pompe Disease was my hope when Dr. Lisa Sanders first contacted us. I did not expect to also experience peace in my heart and love from strangers, but as usual Pompe always throws us a twist.

A few months ago, Donna received a call from Dr. Rand at CHOP asking if we would be willing to share Maddie's story. She explained that there was this interesting writer for the New York Times who pens a column about medical mysteries and is also the technical advisor for the TV show House. Dr. Rand said she never misses her columns and thought for sure that Maddie’s story would be perfect. After speaking with a few friends and investigating Dr. Sanders' work, we responded with a resounding yes. The New York Times? What a great opportunity to spread the word about Pompe!

Dr. Rand sent off a note and a few days later Dr. Sanders contacted us. She explained that for many years she has written an article for the NYT Magazine where she defined a condition, outlined the diagnosis process and defined the disease. To mix things up, she planned to start a new online contest where the readers would have the opportunity to solve a medical puzzle with limited clues, just like on the show House. Whoever made the correct diagnosis would receive a signed copy of her book and more importantly the satisfaction of cracking the case. She loved the idea of starting off this new endeavor with Maddie's case, as the process from hair loss to Pompe was truly unique. Following the blog, Maddie's full story would be written up in the NYT Sunday Magazine.

After signature of a few privacy forms, we were on our way. Dr. Sanders reached out to our local pediatrician, the liver specialist and muscular neurologist at CHOP, and little old us. Each was invited to tell their part of the diagnosis process from the day we walked into All Star Pediatrics until today. Over a few weeks, the writer called the medical team, received medical reports, test results and completed her own research into Pompe. Eventually, she took the train from NYC to our door with pen in hand ready to meet Maddie and Emma. We spent two hours carefully reviewing our version of the story, our emotional journey, our laughs, our family’s strength, and our hopes for the future. From our initial discussion until the end we could see that she truly cared about patients and approached her work in a careful and peaceful way. We were left feeling like we had shared the afternoon with a good friend.

The story hit the New York Times blog on March 23rd and took off faster than any of us expected. Here was the first post.

Think Like a Doctor (The Contest)

http://well.blogs.nytimes.com/2011/03/23/think-like-a-doctor-the-contest/?ref=health

In a matter of hours, the contest had gathered nearly 1400 responses from around the world. There were established doctors, med students, and plenty of regular Joes (and Janes) asking questions and posting solutions as they raced against the clock to find the diagnosis. The initial answers seemed quite serious. Some said she had dermatomyositis, another said juvenile polymyositis, one person guessed hereditary hemochromatosis, and many said sarcoidosis. Don’t ask me what any of these are, but they all sound like good guesses. And then came the funny ones. These solutions stated the trouble was excessive violin practice, that she offended witches, that she was the victim of a mysterious poisoning plot, and that she was an alien preparing to morph in 2012. That was my favorite.

By noon the next day, Dr. Sanders posted the answer and congratulated the winners.

Think Like a Doctor (The Winner)

http://well.blogs.nytimes.com/2011/03/24/think-like-a-doctor-the-winner/

While some responded with appreciation for the answer, others came with a bit stronger response. I termed these “the haters”. The first was “Is her mom a helicopter parent who has simply worn down her child into a joyless nub?” Then came complaints about an obsessive mother spending her medical insurance to research a hair loss emergency while poor kids in Philly stacked up at clinics. Others wondered how attentive parents could miss noticing a daughter who couldn’t do sit-ups or one who could not lift a milk carton. The prize went to someone who, upon learning the cost of Lumizyme treatments, asked “which life is worth $300,000 per year?” Charming.

While I was a bit ticked off by these comments at first, I quickly shrugged them off after reading post after post from people who we had never met expressing their concern, wishing us the best, and passing on their love for a little girl who’s hair loss lead her and her sister down the road to Pompe. Like so many times before, we were overcome by two simple things that made the whole process worthwhile, support and love.

So I want to send a big thanks to Dr. Rand for suggesting this to us and to Dr. Sanders for writing a great piece which riveted so many and brought worldwide visibility and understanding. We fully enjoyed the process and can’t wait for the magazine article on April 10^th.

So you tell me…

What's so funny 'bout peace, love and understanding?

Credit to: Elvis Costello, "(What's So Funny 'Bout) Peace, Love And Understanding"

Act Naturally

2011-03-12T14:55:00.000-05:00

They're gonna put me in the movies 
They're gonna make a big star out of me
And all I gotta do is act naturally    

I'm going to warn you right at the start that this post is not about Pompe. It's also not about neuromuscular disease, the folks at Genzyme, CHOP, or the MDA. It's the story of a proud dad and sometimes Grinch who's heart grew five times in one day watching Maddie Jane and her acting debut in Bye Bye Birdie.

Each year our middle school puts on a musical. A few months ago Maddie decided she wanted to try out and hopefully get a role. After several viewings of the movie, studying lines, and practicing songs, she was ready for her big chance. That morning she walked into school a bit nervous hoping that she would do the right thing and hopefully see her name on the call back list a few days later.

Try-outs went well and a few days later she jumped into the car with a big smile on her face. "I got call backs!", she said. A few days later she was informed she got the part of Alice, the Mayor's daughter and one of the Telephone Hour girls. She was beaming! My heart began to grow.

For the past several weeks she and all the other great kids in the play have gladly committed their afternoons and weekends. Hours upon hours they worked through the lines, the songs, the stage sets, etc., etc., all with one eye on Opening Night. Early on she would share a lot about the play, what her role was and what songs she had to sing, but over time she became quiet. When we asked if she got to sing a few songs and be on the stage a couple times, she would just smile and say, "It's a surprise."

There has been a build up all this week with dress rehearsals, teasers to the students, and finally Opening Night. As Maddie scurried around the house last night, followed by Mom preparing her curly hair and make-up, you could feel the excitement. After weeks of hard work, the play weekend was here. Now was the time to shine and now was the time to finally show her parents the "surprise".

When we arrived, the school was all Bye Bye Birdie. From posters, to pins, to star grams and flowers they were ready. When the curtain rose and the play got underway there was Maddie (sorry, Alice) with curly hair, huge smile, and telephone in hand and bolting out the words to "Telephone Hour". She looked and sounded great and all I could do was smile. As the play went on, we discovered that Maddie (sorry, Alice) was showing up here and there throughout the play with the same smile and big voice.

So why did I choose the song "Act Naturally"? Well, if you know Maddie you know that despite all the struggles she faces she has the ability to keep a calm, positive attitude. Sure I am incredibly biased, but here's a girl who every two weeks gives up a day to sit at CHOP for IV therapy and never complains. Here's a girl who has been forced to accept a strict diet and exercise regimen while her friends eat and do what they want and again, she never complains. Here's a girl who has to deal with many issues we don't spend the time detailing on this blog, but does so with grace, a smile and a sense of humor. So when she came on stage last night, I knew that smile was not a show. It was Maddie, happy to act, happy to sing, and happy to be alive.

Well, I warned you. No scientific updates or tearful stories of kids overcoming adversary today. It's just a proud dad bragging about his daughter. If you're in the local area and looking for some good wholesome fun tonight or tomorrow, be sure to check out Bye Bye Birdie at LMS. If you're looking for me, I'll be the guy sitting in the front row with a big smile, fresh flowers, and a huge heart filled with joy for a little girl with curly hair singing...

Well I hope you'll come and see me in the movies 
Then I'll know that you will plainly see 
The biggest kid that ever hit the big time 
And all I gotta do is act naturally

Way to go Maddie Jane!

Credit to: The Beatles, "Act Naturally"

PS: The last line in her bio says... Maddie believes, "Anything is possible, so live life to the fullest!" Amen, little girl. Amen!

Telephone Hour

Dancing with Conrad Birdie

Born To Be Wild

2011-02-27T11:22:00.000-05:00

Get your motor running' 
Head out on the highway 
Looking' for adventure 
And whatever comes our way 
Yeah! darling', gonna make it happen 
Take the world in a love embrace 
Fire all of your guns at once 
And explode into space

Born to be wild 
Born to be wild

When it comes to being cool, I used to think I fell somewhere between Richie Cunningham and Ralph Malph. Sure, Richie was not the coolest guy on the TV show Happy Days because of his all American, Howdy Doody face and need to always be nice, but I had to be honest with myself. I recognized long ago that I would never be Fonzie cool, but at least I knew I would never be mistaken for Potsie. That was until I stood in front of a group of men and women motorcycle riders at Smaltz's Harley Davidson.

Over the past 23 years the MDA has teamed up with Harley Davidson to raise millions of dollars through the Ride for Life campaign. The campaign starts at the local dealerships by building awareness and slowly grows to a two-day event where thousands of motorcycle riders from the Northeast meet in Reading, PA to celebrate two days of fundraising, Harleys, and whatever else those guys who look and act like Fonzie do.

A few weeks ago Maddie and Emma were asked by the local MDA chapter to be their Ambassadors for the event. This involved visiting a couple local Harley Davidson dealerships, talking with riders about their condition, the importance of the ride, and eventually spending two days in Reading celebrating the event. When I first found out, I was excited for them (and me). Here was another great opportunity for them to speak on behalf of those with Pompe and muscular dystrophy, have a little fun, and perhaps get a tattoo (that was a joke). For me, I saw it as an opportunity to increase my cool quotient above Richie status and perhaps sneak in a ride or two. Unfortunately, they will not be able to attend due to other obligations so I quickly filed it away in the maybe next year folder. Then, the door re-opened.

A couple Fridays ago we got a phone call from the MDA office asking if we could squeeze in a visit to the local Harley dealership because the little guy who planned to be there was ill. I quickly checked schedules and found that Emma was available. I tried to be cool and say, "Sure, we can," mentioning that Emma always likes to help and that Donna and I would pop in for a few, but I think they could hear my excitement. When Richie wanted to be cool, he always overdid it.

When we arrived at Smaltz's Harley Davidson, one of the local MDA reps (Ben) explained what Ride for Life was, how important it was for the MDA, how generous the Harley Davidson community has been, and that he needed one of us to talk to the riders before the dealership's monthly meeting. None of us were prepared to speak, thinking that we were just going to stand around and greet individual riders, but we said we would be pleased to help. Since I am usually the one talking I thought it would be great for Donna or Emma to speak, but when he asked for a volunteer to step forward, my family took a step back.

After years of speaking in front of groups I've learned that it's important to both know your audience and be prepared. In this case I was neither, but before I walked up to the group I told myself to be confident. After all, I know a guy who owns a Harley. However, as soon as I stood there in front of the group clad in black leather, two things came to mind. First, they were definitely looking at yours truly wearing my gingham button-down shirt, J Crew jeans, and responsible loafers thinking, "What's with Potsie?” Second, I realized the only black leather I had on me was a money clip. I was out-numbered, mumbling, and feeling very un-cool.

I just started to talk and hoped for the best. I explained what Pompe is, how it affects our girls, how important the Ride for Life event will be for families facing muscular dystrophy, and how much we appreciate everyone's dedication to this cause. I then threw in a joke about my knowledge of motorcycles (not much) and how Emma wants me to buy her one. That seemed to win them over, at least to Emma's camp. At the end several of them thanked us for coming and sharing our story. Even more stopped to tell Emma about all the different bikes she could buy and that (despite her un-cool dad) she could and will be a Harley rider someday.

One great thing about being involved with these events is that you get to meet amazing people you may not meet otherwise and see their hearts open for good causes around them. Sometimes it is too easy to place people into boxes based on what they wear, how they look, or what type of motorcycle they ride. As you dig deeper you come to realize that despite outward appearances, most people are just like you. They believe in family, they believe in friendship, and they believe in helping others wherever they can.

On the way out, I stopped with Emma to check out a few bikes and talk about how cool it might be to buy a black leather jacket, grow a ponytail, and take on the open road. Then I came back to reality and realized it would be safer if Richie and I stuck to four wheels and four doors. Emma on the other hand has a bit more cool in her, from mom's side of the family. I guess I'd better be nice to her for a few more years because perhaps one day she will buy that leather jacket, that Harley, and take me on a future Ride for Life. I hope she's not too embarrassed when I sit on the back and sing ... Born to be wild!

Thanks to all my fellow HOG riders,
Matt

Credit to: Steppenwolf, "Born To Be Wild"

Good Vibrations

2011-02-21T16:13:00.001-05:00

I love the colorful clothes she wears  

And the way the sunlight plays upon her hair  

I hear the sound of a gentle word  

On the wind that lifts her perfume through the air   

I'm pickin' up good vibrations  

She's giving me excitations  

I'm pickin' up good vibrations  

She's giving me excitations

Good, good, good, good vibrations

She's giving me excitations

Good, good, good, good vibrations

She's giving me excitations

I began to notice it the night before as Maddie and her friend sat at the kitchen island with Donna making signs. They filled board after board with sayings like "Go Team Crowley", "Make A Muscle, Make A Heart", and "Pompe Power". It continued the next morning as soon as Emma and Carter's friends began walking through the door. The mood was clearly upbeat, in fact, a bit festive. Within minutes the house was filled, filled with the excitement that frequently comes along with voices of young people. It was filled with Good Vibrations, as today was the MDA Walk.

In a previous post, I spoke about the importance of the day, what it meant to our family, and hopefully what it would mean to others. The post was a bit "heavy" carrying on from our experience at the MDA Muscle Summit back in October. Today was different. For us, today was not a day for reflection as much as it was a day for celebration.

When we arrived at the mall and welcomed friend after friend we were nearly brought to tears. We expected a big turnout, but seeing everyone was overwhelming. Everyone was in a great mood, ready to walk, ready to support our girls, and anyone there with muscular dystrophy. As Donna and I greeted the members of Team Crowley clad in red, white and blue, we saw great signs and shirts. The signs covered the spectrum from "Crowley Crusade" to "Emma and Maddie R RedHot", and to "Emma and Maddie are Hot Tamales" (both with the boxes of candy glued to the board of course.) The homemade t-shirts varied from those painted with "CC" for Crowley Crusade to a family of five who spelled out P-O-M-P-E on the front and P-O-W-E-R on the back. Awesome!

After a quick 3-2-1 kickoff, the walk began and the Good Vibrations continued. One of our friends decided to lead Maddie and her friends in cheers as they walked through the mall. The chants "I say Emma, you say Crowley", "I say Maddie, you say Crowley", and "I say Carter, you say Wooh!" filled the mall. It's amazing how loud a group of 12 year old girls can be. Next, came the Zumba dancers who were there to entertain the crowd. When Maddie's team found them, the signs dropped, the girls headed to the dance floor (along with their leader), and Zumba began. Even Carter joined in. I know funny, and that was funny.

The festive atmosphere continued through the morning as Donna and I tried to speak with everyone we could and thank them for coming. Each and every person said there were impressed by the turnout and genuinely pleased to share the day with so many other great people supporting a great cause. The attendees included friends and neighbors, our fantastic nurse from CHOP, and a few people who have held our hand through this entire process and by doing so have become family.

At the end of the walk all the teams gathered around as Page from the MDA read off the awards. Several teams won prizes or awards including a door prize for Emma's Key Club and a plaque to the Crowley Crusade for the largest team. Through the great work at Emma's school and the support of so many of you, we jointly raised nearly $8,000 with the MDA total for the day at $55,000. A great success!

On the drive home our friend who took the lead cheering on Maddie's group of girls was asked why he did what he did, cheering, dancing, etc. His response was, "Did you see Maddie's face? Did you see her smile? That's why." When I heard that I sat down, reviewed the day and wondered how we got so lucky, so lucky to find a group of people who would take time out of their lives to raise money, spread the word, and walk with us on an early Sunday morning if nothing else than to bring a smile to our daughter's face.

On behalf of the Crowleys, please accept this sincere thanks to every person who had us in their thoughts, donated to this event, and walked side by side with us yesterday. You unexpectedly filled our hearts with...

Good, good, good, good vibrations

All for Two and Two for All!

Matt

Credit to: The Beach Boys, "Good Vibrations"

Making signs the night before

Carter and Emma's friends

Someone told me this was the first sign

they saw and it only got better

Maddie, her friends, and their loyal leader

Zumba anyone?

Some members of Team Crowley

All You Need Is Love

2011-02-12T09:30:00.000-05:00

Love, Love, Love.
Love, Love, Love. 
Love, Love, Love.  

There's nothing you can do that can't be done. 
Nothing you can sing that can't be sung. 
Nothing you can say but you can learn how to play the game. 
It's easy.  

Nothing you can make that can't be made. 
No one you can save that can't be saved. 
Nothing you can do but you can learn how to be you in time. 
It's easy.  

All you need is love. 
All you need is love. 
All you need is love, love. 
Love is all you need.

In 1975 Valentines Day was simple for this six-year-old boy. My job was straightforward. With a little construction paper, a little glue, a few crayons, and a little love, the perfect Valentines card was created. Like most boys my age, passing that Valentine to the girl at the next desk just didn't seem right. First of all, girls were still alien creatures at that time and secondly, it had to be saved for that special someone. That special someone who had waited all day for me to get home. That special someone who always had warm chocolate chip cookies in the yellow Tupperware waiting for me. That special someone who seemed to solve all the problems a six year old could offer up. That special someone named Mom.

I grew up in a large family of six kids with one lucky sister at the top of the heap, four brothers, and then little old me. Those of you who grew up in big families know that being the youngest had its privileges and its drawbacks. You were always Mom's baby, but were also the smallest one during wrestling battles so it was either team up or watch out. Looking back, I find it amazing that even after everyone else was fed, clothes washed, fevers mended to, and homework done, Mom still had time for the little guy. Being a parent myself now, I struggle sometimes to find that correct balance for three kids let alone six. Fortunately, somewhere along the line my Mom taught me that when it comes to little ones, despite all the little pains and suffering of life sometimes, all you need is love.

The other day I accepted a Facebook friend request from a grandmother who's granddaughter has Pompe. Being attached to the Pompe community through Facebook has brought many unexpected heroes into our lives. Every so often I get a friend request from someone with Adult Onset Pompe who has a happy profile photo, appears to be responding well to medicine, and has a good outlook on the future. These friend requests are easy to accept as they are another example that down the road my girls will continue to do well. And then there are the requests from those with Infantile Pompe.

For anyone who may not remember, Infantile Pompe is a bit different from Adult or Late Onset Pompe. The symptoms usually appear within the first few months of life, an enlarged heart is usually involved, significant muscle weakness is seen, and difficulty breathing is pronounced. Depending on the uniqueness of an Adult Onset patient, these things can also be seen (usually minus the heart issue), but are gradual, appearing over years, not within the first few months of life. On top of all that, as the patient is very young, they are not able to tell you where they ache, if they are having trouble breathing, or most importantly how the feel. I've found this last one so important for our girls as chronic diseases come with many emotions and many questions.

Unlike the profile photos mentioned above, at first glance sometimes all you notice is a young child connected to an IV line. However, as you begin to follow the Mom's (or Grandma's) narrative, read the supportive comments from their family and friends, and visit the posted photos, you become humbled. Just like in our house, while their child is fighting their physical battle against Pompe, moms are fighting the physical, financial, and emotional battle. What's different for those with Infantle Pompe is the severity of the condition and the age of the patient. But, what's the same is a mom's love, which despite an incredibly unfair situation somehow shines through in every post about their angel at home celebrating a birthday, at the hospital battling pneumonia, or at an IV center receiving Myozyme.

For all you Moms and Grandmas out there fighting on behalf of your little ones be them 6 months or 16 years, I want to thank you for your inspiration. I also want to thank you for reminding me of a lesson I learned many years ago that despite all the marketing around Valentines Day, all it takes for a child is a little construction paper, a little glue, a few crayons, and a little love, to warm a mother's heart. Please keep those Facebook posts coming and remember one thing for me. While life will always have its good days and bad days, strong days and weak days, happy days and sad days, be sure to hug that baby and show the world that in a child's eyes...

All you need is love.
All you need is love. 
All you need is love, love. 
Love is all you need.

Happy Valentines Day!
Matt

Credit to: The Beatles, "All You Need Is Love"

Pretty in Pink

2011-02-06T13:27:00.000-05:00

Caroline laughs and it’s raining all day

She loves to be one of the girls

She lives in the place

In the side of our lives 

Where nothing is ever put straight

She turns herself round

And she smiles and she says

“This is it. That's the end of the joke”

And loses herself in her dreaming and sleep 

And her lovers walk through in their coats  

Pretty in pink 

Isn't she?  

Pretty in pink 

Isn't she?   

A funny thing happens after you graduate from high school and get busy building your career, signing up for mortgages, and starting families. Somehow the words your parents said, "I just don't understand kids today" come out of your mouth. Somehow your favorite radio station is no longer the one playing the top 40, but one that plays a mix of the 60s, 70s, and 80s. Somehow the movies and songs you loved as a teenager find their way into your kids lives as "retro". And, then suddenly, out of nowhere, your baby turns 16.

Last weekend, we celebrated Emma's 16th birthday by taking her and her friend to New York City for dinner and a Broadway show. On the drive up, they popped in the movie Pretty in Pink and started to laugh. For those who don't know, Pretty in Pink is a classic 80s teenage saga depicting the lives of Andie, Blaine, and Duckie and their high school struggles through cliques, friendship, and love. Andie is a poor girl who falls in love with the rich boy (Blaine) while her best friend Duckie tries to find a way to explain his love for her. The beauty of the story is that despite all the pains of being teenagers, Andie stays true to herself and her friends.

As I drove through New Jersey and listened to the movie I thought about Emma's struggles in high school and how she has overcome them. Last year while we were dealing with the emotion of Maddie's diagnosis, she was quietly trying to understand why she could not make it up stairs as fast as the others and how embarrassing it was to trip in the hallways. Inside, I'm sure she knew she too had Pompe, but did not want to bother us with it. She maintained patience and focus. A year after her diagnosis and ten months of Lumizyme treatments she is stronger, doing well in school, and most importantly happy. Despite a tough road for my 16 year old, she has been patient, remained true to herself and to her dear friends.

In Pennsylvania you don't receive your driver's license the day you turn 16. Rather, you receive your driver's permit and have to wait six months for that prized possession. This offers you a bit more time to understand what it means to drive and a bit more time to accept the freedom that comes with growing up. While Donna and I walked the streets of NYC, Emma and her friend walked a little bit behind us and when she wanted to share a destination with her friend, we let her go on her own. There was no discussion of Pompe nor questions if she could keep up her strength walking the long distances, just a 16 year old slowly accepting the freedom of growing up and two parents patiently coming to understand what it means.

We finished our night with The Phantom of the Opera at The Majestic Theater. Both of the girls had heard bits and pieces of the story and a song or two, but did not know what lied ahead. At the intermission, they looked at us trying to make sense of what they'd seen and asked if that was the end. We told them to be patient, think about the experience, and wait for the final act. At the end of the show they sat in their seats with tears understanding the power of love gained and love lost.

As we drove home past midnight, the girls watched the conclusion of Pretty in Pink. At the end of the movie, Andie goes to her senior prom alone and meets up with her best friend Duckie. While he wants nothing more than to spend the evening with his hidden love, Blaine arrives, and Duckie tells her, "If you don't go to him now, I'm never gonna take you to another prom again! This is an incredibly romantic moment, and you're ruining it for me." So off she goes with her love while her friend smiles. It's a bit happier than the Phantom ending, but the meaning is the same.

As the credits began to roll, the song "Pretty in Pink" started to play and I found myself quietly singing words I thought I'd forgotten. I sang and smiled knowing how lucky we were to share a Sweet 16 with Emma and how lucky we will be as we continue to watch her grow emotionally and physically. She too will experience the power of love gained and love lost, but with her strength and support from family and friends, my baby will be OK.

So I guess it doesn't matter too much that my radio station plays the oldies or that sometimes I don't understand kids today. In the end, we parents are the lucky ones. Whether my Emma is 1, 8, 16, or 32, in my mind and in my heart she will always be...

Pretty in pink 

Isn't she?  

Pretty in pink 

Isn't she?

Happy Birthday Emma! Make a Wish!

Love,

Daddy

Credit to: The Psychedelic Furs, "Pretty in Pink"

You Can't Always Get What You Want

2011-01-27T14:40:00.000-05:00

I saw her today at the reception
A glass of wine in her hand
I knew she was gonna meet her connection
At her feet was footloose man

You can't always get what you want
You can't always get what you want
You can't always get what you want
But if you try sometimes well you might find
You get what you need 

If you were to ask five people the difference between the words "want" and "need" you are likely to get five different answers. For many people, these two words are synonymous. As children, we all pleaded with our parents for the latest toy saying, "But I need it!" and usually heard some boring lecture explaining that we didn't "need" the toy, but "wanted" the toy. Blah, Blah, Blah. Over time, we mature, see a few things, experience a few hardships, have a few successes, and come to realize the two words are truly different. We learn that while you can't always get want, if you try sometimes you just might find, you get what you need.

The start of a New Year is a significant milestone for many. It represents a fresh start, a new opportunity, or a chance to return to what they've strayed from. Rightfully so, many people use this date as an opportunity to get back on track or perhaps define a new track to follow. Either way, the New Year equals change for the better. While I am not much for New Year's resolutions, I've followed the same hopeful mindset for most of my life. After all, who wouldn't love the chance to wake up and get what you want?

When I poured my usual cup of coffee and picked up the newspaper this past January 1st, something seemed out of place. Everything was the same as the year before, but felt odd. We had a nice New Year's Eve with friends and family, the morning paper listed the college bowl games, the Rose Parade was on TV, but it wasn't right. I set it aside figuring that perhaps the realization that the holiday season was coming to a close was affecting my mood and set off to enjoy the paper. However, hours later after discussing with Donna, I discovered the answer.

This New Year felt different because despite all the fanfare, the year wouldn't be different from the one before. In four days treatment day at CHOP would reappear, the schedule would fill up with physical therapy appointments, and our usual trip to the grocery store would be another detailed process of finding the right proteins, studying whole wheat content in the bread, and trying to find snacks the girls could take to school and not get bugged for being health nuts. On the calendar it was a New Year, but it was just a continuum of the days and months before. Pompe was here to stay and the chance to wake up and get what we want wasn't possible.

One challenge with rare diseases is connecting to others who share your experience. We have made some great connections over Facebook, but as there are only a few hundred Pompe patients in the US, most are miles and miles away, preventing face to face meetings. Don't get me wrong, every day I am humbled by the love and support we receive from our friends and family far and wide. However, once in a while it would be nice to shake a hand, look into someone's eyes, and share your hopes and fears with another who understands.

Early on, Day Medicine at CHOP seemed like it would be a natural place for camaraderie. After all, this is a location focused on IV treatments for children. What we found was a wonderfully supportive staff, but parents with little to say. Due to privacy issues and each one's unique medical situation, most parents would come and go without saying a word to one another. We were fortunate to make friends with another local Pompe family, but as luck would have it, their treatment day was different so a regular meeting was not possible. Looking back, I must admit I did not think too much about the situation at the time because I was only able to attend treatments once in a while but, for Donna and the kids the void was clear.

Last Wednesday I was able to join the family at CHOP. I planned to just pop in for lunch and get back to the busy activities of work life, but my plans changed. When I arrived, I found just what I was expecting. Emma was resting in the room and Maddie was fast at work on another creative task under Kate's watchful eye. But, at the same time, Donna and one of the nurses were quietly chatting away. It seemed that there was a new patient today.

This new patient did not have Pompe, but he too would be getting IV treatments like our girls and would be a regular visitor. Donna, always the shy and meek one, first made sure it was OK with the nurses, then walked right in and introduced herself to the new patient and his parents. What she found was familiar. Here was a child, just like ours, trying to comprehend why he had to be pricked with a needle and here were two parents, just like us on day one, who's eyes were filled with concern and bodies clearly suffering from exhaustion.

Suddenly, the place came alive. Over the next several hours, the kids compared IV poles and discussed cool things about CHOP while the parents shared story after story. We spoke about the first times we felt something wasn't right when we watched our kids run, about the process of diagnosis, about denial of the results, about parental guilt for something we could not control, and how fortunate we are that a company has developed a treatment for a few kids who truly need it.

At the end of the day, as their little man put on his jacket and proudly marched out like a warrior after a successful battle, his parents stopped to say thanks. We agreed that what we all wanted was to zip up our coats and walk out one last time as proud as their son, knowing our kids were cured. That was not in the cards, at least for that day. Instead, we thanked each other again, wished them well, and promised to see them next time.

In two weeks we hope to see this family again and also hope things continue to go well for them physically and emotionally. On the other hand, if they have to change schedules and we can only see them periodically, that is OK too. Because for a moment in time, when we both needed it, we were able to shake a hand, look into someone's eyes, and share our hopes and fears. At that moment, both parents realized that…

You can't always get what you want
But if you try sometimes you just might find
You just might find
You get what you need

Happy Belated New Year!
Matt

Credit to: The Rolling Stones, "You Can't Always Get What You Want"