The I Love Lucy Project

new article

noreply@blogger.com (shawni) — Wed, 06 Apr 2011 18:42:00 +0000

I just came across this interesting article. It makes me happy more research is coming along for kids with BBS, but I know we have a LONG way to go. I'm trying to be patient.

Hopeful Strides in the World of Blindness: Our Contributions for Lucy at Work!

noreply@blogger.com (shawni) — Wed, 16 Feb 2011 04:08:00 +0000

(written by Linda Eyre)

The funds we raised last year for the I LOVE LUCY PROJECT (nearly $28,000) have been working for Lucy and the Foundation Fighting Blindness. Of course it is just a drop in the bucket compared to the overall need but every dollar helps to move things along. As you probably know, Lucy who has been diagnosed with Bardet-Biedl Syndrome is destined to lose her vision sometime between the ages of 9 and 15 unless we can intervene with research and new scientific discoveries.

Richard and I (Lucy’s grandparents) attended a lecture a couple months ago at the Utah Chapter of the Foundation Fighting Blindness and were thrilled to hear about the progress being made to help people who are dealing with degeneration of their eyes.

When Shawni and I attended the Bardet Biedl Conference at Duke University in June, probably the two best experts on BBS in the world were in attendance. Dr. Phillip Beales from University College Hospital in London and Dr. Niko Katsanis at Duke University explained that the Bardet-Biedl Syndrome was only discovered about 10 years ago. “We spent 10 years looking for the genes that were responsible for the syndrome. Now our challenge is find ways to help with the disorder.“

While going through the amazing lab at Duke they told us that the main problem with Retinitis Pigmentosa (RP) which is the form of eye degeneration that comes along with BBS is that the light receptors in the back of the eye do not get enough protein and so they deteriorate which eventually causes blindness. The following are discoveries, although they are still in the beginning stages of research, that give us beams of hope. This is in total laymen’s language but is what we understand from what we were told:

• Time-released protein capsules for the eye. There is presently a 5-year study that has been approved by the Food and Drug Administration currently being conducted which involves surgically inserting a tiny capsule about the size of a half a grain of rice in the back of the eye which floats in the vitreous humor which is a thin layer of clear gel that fills the space between the lens of the eye and the retina. That little capsule releases a constant stream of protein so that the eye seems to get what it needs to stop deteriorating. It does not restore sight but stops the progress of the degeneration. They are presently 2 ½ years into the study and so it will be another 2 ½ years before they will have definitive results. But that is pretty exciting! Going from being told that basically nothing can be done to save Lucy’s sight to saying that this looks hopeful is fantastic news!

• Lutein. While we know that Vitamin A is good for the eyes, there are side effects if too much is taken. A new vitamin/herb? Called Lutein has been proven to protect eye health and doesn’t have side effects. Of course giving it to a child would have to be approved by a doctor but it seems to be an exciting alternative to Vitamin A to protect the health of the eye without the problems of side effects.

• Bear Bile. Okay we know this one sounds pretty weird but there truly is a connection between bear bile and eye health. Since this involves bears in China and it since collecting bear bile is pretty complicated, they have now developed a synthetic drug that copies the real thing.

• Stem Cell and Gene Therapy. Although there is enormous hope for gene therapy and stem cell research that affects the eye, the process is far too complicated to explain here. Just to give you an idea of what we learned: There are 6 billion pieces of genetic information in the human body. If each represented a penny that line of pennies would wrap around the world 2.8 times! Apparently if scientists can identify the defective gene in all that they can actually take it out, replace it with a healthy one and the disease will be cured. That not only applies to RP but spinal cord injuries, heart disease and hundreds of other things. It doesn’t sound easy but there is hope that as we continue research it will be possible. The possibilities that come with stem cell research is even more amazing but lots of resources are being poured into speeding up the process. What we learned about stem cells is absolutely incredible!

• Valporic Acid. This is a drug that has been used widely for people with seizures and for some reason when administered to patients with dominant forms of RP slows vision loss.

SO onward we go in our quest to find a way to save Lucy’s sight. These new ideas and discoveries are the best news we’ve had in a long time!

There can’t be a more adorable child in the world. In addition to her precocious nature (BBS kids use more of their brains than most of us…just in different ways) her strong will…testified to by her parents Shawni and Dave, will stand her in good stead as she goes through this life determined to get the good things she wants and needs no matter what!

I Love Lucy t-shirts

noreply@blogger.com (shawni) — Sat, 04 Sep 2010 23:50:00 +0000

Amy, a very sweet "blog friend" is a runner and had some t-shirts made to run her races in. She gave one to her cousin who is also a runner and reporter/journalist to help spread the word about the I Love Lucy project:
(Thank you Nathan!)

Amy sent us a few t-shirts as well. Elle and her friends did a little bake sale to help earn money to fight blindness one day at the beginning of the summer.
We are so thankful for the support group Lucy has!

Bardet-Biedl conference & Duke University

noreply@blogger.com (shawni) — Fri, 27 Aug 2010 21:57:00 +0000

I need to keep up on this blog a little better...and keep track of all the things happening in Lucy's life. So I'm adding a few posts from my family blog that are really about the "I Love Lucy Project." So here you go:

Speaking of good doctors, I haven't yet sat down to write about the Bardet-Biedl conference we went to back in June.

And that's no good, because it was really an amazing conference (thanks to my sweet friend Mary and her helpers along with some outstanding doctors).

After our family trip to Washington D.C., I flew to North Carolina: to meet my mom here:(Duke University) where the conference was held.

I'm not going to lie. I was nervous as could be.

I can't really explain it, but it's so tough for Dave and me to confront what may happen in the future with Lucy. We know all the possibilities, and we know there's nothing to do but face them as we arm ourselves with the best knowledge and help we can get. But still, it makes us nervous to face it all head-on. So Dave was ok to just take the kids home from D.C. and was happy my Mom could come go with me.

I must say after all our trepidation my mom and I were so pleasantly surprised because confronting what's in store for Lucy wasn't at all the doom and gloom we had pictured. Sure, the majority of attendees who had BBS were getting around with canes and were dealing with some quite serious weight and kidney issues. But many of them held (or had held) jobs, one just got accepted to college, one or two were married, and a couple of the younger kids looked as if they didn't have any obesity issues at all.

There are two doctors who have gone above and beyond the call of duty to help families dealing with BBS. One of them (Dr. Beals) was there from London, and the other (Dr. Katsanis) has his offices at Duke. We got to take a tour of the labs where Dr. Katsanis and his team do most of their research:Check out all those different bottles full of things they use to mix in with the DNA and figure out a better way of life for so many:
This is a robot doing much of the initial, tedious back-up work:
Here's my mom scoping out cells of zebra fish they are using to conduct new kinds of research:
Dr. Katsanis offered up his beautiful home for us all to gather for dinner that evening. It was quite amazing to be able to mingle and talk with SO many who are dealing with such similar issues (I think there were around 150 people there).
Here's Dr. Katsanis with Dr. Beals (who came from London) on the right with a researcher on the left bidding us good night after a very informative evening.
The next day we went to classes all day covering everything from the nitty-gritties of DNA and kidney transplants to how to access all kinds of help as well as day-to-day low-vision aids.

Of course, we were glad to have a few minutes between things to explore the Duke University campus:
I love the details. Check out those faces carved in the stone on either side of the door above.

It was gorgeous.
(But it still can't quite beat Wellesley ;))
I'm just so incredibly grateful to all the people who put this together and for all the hard work it reflected. We came home armed with so much good information and hope for the future.

Probably the best thing that happened at the conference as far as I'm concerned was that I met one mom in particular who has a daughter about a year older than Lucy. This mother has been able to help her daughter in ways I hadn't even thought of before...with supplements and serious eating guidelines, and good doctors all combined. We have been in contact quite a bit since the conference and I must say the first e-mail she sent jam-packed with enough useful information to literally swim in made me cry. And then the second one did too. I was so happy to have been able to meet people who give me so much hope for Lucy.

And there's nothing quite like having hope like a light in the darkness for the future of someone you love.

good doctors

noreply@blogger.com (shawni) — Fri, 27 Aug 2010 21:56:00 +0000

I love good doctors.

Yes, I have had some trouble with some doctors in the past. There was the one who took a phone call on his cell phone from a friend right in the middle of discussing kidney functions with me. And there was an OB/GYN who told me flat out when I was pregnant with Claire that she had Spina Bifida. But really, I know that everyone has their off-days. I know sure do. So I don't expect doctors to be perfect. I just always seem to get my hopes up...maybe too high...that they will understand what we are dealing with. I want them to "speak my language."

I must say that the not-so-good doctors make me appreciate the really good ones even more. The good ones bring me to tears I'm so happy to have found them. They have helped us more than I can ever express. I'm so incredibly grateful for all the years of hard work they have put into research and study to help people like us.

I've been frustrated after many doctor visits not because of the doctors themselves, but because of the situation: I'm dealing with rare things they haven't dealt with before.

Claire, even after her little non-invasive surgery, is still having recurring UTIs (so incredibly sad, but true), and really, the doctor simply hasn't dealt with this much before...the success rate is usually so high. So we have to keep working on it, as frustrating as it is for both of us.

As for me, the mystery is still out as to why I would test positive for Lupus twice with no blatant symptoms. Although I'm not worried a bit about Lupus, per se, the doctors really recommended that I at least get to the bottom of why my kidneys aren't functioning properly. I know I need to follow up on that, but it just tends to get put on the back burner...everything else seems much more important.

And then there's Lucy. Her syndrome is rare enough that the first doctors we visited after we got her diagnosis had never had a patient with Bardet-Biedl before. When they came to meet Lucy and me in their offices for the first time most of them were clutching the basic BBS info. sheet from the Internet...the same one Dave and I had read when we got her diagnosis.

And that was so hard for me. I was looking for someone who knew more than I did. Someone who could tell me what to expect. Someone who knew how to really help us. Of course it's not their fault they didn't know what to tell me, or that all they could do was repeat the same information I had already read on the Internet. They had simply never dealt with it before.

Having a child with Bardet-Biedl can be very lonely sometimes...at least it was for me at first. No one knows really how to help. You can't know what to expect in the future for your child since every case is different. Even others dealing with the same syndrome have vastly varying takes on life and health concerns because each individual is affected so differently. And the doctors with various practices (endocrinology, nephrology, ophthalmology, genetics, pediatrics, radiology, audiology, orthopedics, etc.) don't necessarily work together, so you have to explain to one the same things another has told you (which sometimes gets all mixed up in the process) and you have to keep all the records straight so the same blood test doesn't get done more than once (this has happened a few times to us) and to enable each doctor to build on what the others have to contribute. It's been a tough, emotional, draining process.

So, you can only imagine how I felt when I finally got in touch a few months ago with some doctors at the National Institute of Health. I knew they were doing a study on kids with BBS and I wanted so much for Lucy to be involved...any help we can get is so promising.

The day I finally talked to one of the main genetic counselors there I felt like I'm sure I'd feel after having been lost in a foreign country and FINALLY finding someone who speaks English. This woman was speaking my language. And nothing feels so good after wading through so much medical mumbo jumbo that just didn't make sense for so long.

As this woman explained what, exactly, they are doing with this study and as I explained the tests and procedures I really hope Lucy will be able to have at some point it was like all the stars were aligning and all was right in the world. I understood her. She understood me. And we discovered that this was a good match.

I have been on cloud nine ever since. I'm so excited to meet a team of doctors who have studied and worked with numerous kids who have the same issues Lucy is facing. I'm so excited that those specialists will consult with each other...from so many different medical fields...specifically about my daughter. I'm so excited that we'll be able to provide Lucy's doctors here in the desert with some good, substantial information from the tests she will have there. And that from there we will have such a good foundation to build on.

We were supposed to head out there last week (the National Institute of Health is in Bethesda, Maryland). But because the dates they found for us happened to be right as school was starting, Lucy was getting potty trained, Dave's work was particularly crazy, and I had a huge stake primary function with 300 girls I needed to be home for, we had to put it off for a month or so. I was dying that we couldn't make it right then (I'm SO compulsive anyway), but we'll all survive another few weeks 'til they can align all the dates again.

All of this makes me (and Dave too) thankful all over again for good doctors. Those great ones we have found here in the desert, and the ones we will soon get to meet.

Yes, I love good doctors.

Mother's Day thoughts from Shawni

noreply@blogger.com (shawni) — Thu, 06 May 2010 07:22:00 +0000

As I prepare for Mother's Day this year I have reflected on the wonderful mothers that have shaped and molded my life to whom I am forever indebted.

But in addition, I have also evaluated my own motherhood. I’ve thought about that ideal, perfect mother I dreamed of becoming since I was a little girl and how my true motherhood self is so unlike “her.”

“She” (that idealized mother I dreamed of becoming, beckoning to me from the horizon of life) had children who never fought and who dressed immaculately. “She” never got frustrated or impatient. “She” would always return her library books on time. And “her” children were all healthy and normal.

But the real me stares back at me from the mirror.

I am the mother of five children who all had continual snotty noses until they were three and I still took them out in public. I am the mother who slams doors when I’m mad and can dish out a bone-chilling “evil eye” when I need to whip a child into shape. I have decided the library isn’t even my “thing” (library books can’t seem to get returned at all). And one of my children is not entirely healthy or “normal.”

You see, last year my youngest daughter Lucy (who was two-years-old at the time) was diagnosed with a rare syndrome called Bardet-Biedl. This syndrome, among other things, causes kidney and heart problems, obesity, and most heartbreaking for us, blindness.

Even though in our hearts my husband and I knew full-well the diagnosis was coming (Lucy had always been delayed and we had done enough research to know this syndrome fit…like a glove), in the back of our minds I think we dearly hoped that maybe, just maybe, it would all turn out to be a bad dream. And we’d wake up and our life would go on as planned. We would be a “normal” family. Is that so much to ask?

But it wasn’t a dream. It was real.

And in many regards it slapped us in the face.

It is interesting to look back and reflect on what has happened in a year. Countless doctors have been visited (and small pieces of my mind have been handed out liberally as needed). We have gone from worrying endlessly about blindness to obesity to heart problems to kidney issues and back again…around and around in one big, never-ending circle.

But you know what else? Our little family has learned and grown in ways we never thought possible. I have watched my four older children become the best live-in therapists there ever could be. We have fallen more deeply in love with each other as we have cried together, laughed until we cried again, and worried.

As we work to fight all fronts of this syndrome, there are some things we can’t change.

But one thing we feel we can do is stand up and fight against blindness. You see, most children with this syndrome lose their vision between the ages of eight and fifteen. But scientific evidence has given us hope that there may be a cure for Lucy's type of blindness within the next few years. Because of that time line we feel as if we're on a race against time to help fund the research to help Lucy keep her vision.

Simultaneously, as we found out about this syndrome my mother and I had just published a book about motherhood called A Mother's Book of Secrets. We had happened to choose a picture of Lucy for the cover of the book before we had any idea about what would hit us with this syndrome. In light of our new diagnosis we decided to donate all of our royalties from this book to help fight blindness.

The money we can raise through this may only be a drop in the bucket to help, but sometimes as mothers we just need to stand up and fight for whatever our childrens' needs may be.

So, back to my motherhood vision from my youth:

What I’ve realized is that I like that lady I see in the mirror much more than that sterile one I dreamed of becoming.

Because she is real.

She takes her children out and loves them even more because they’re not perfect. Their mistakes and “issues” fold into her heart and make her one with them as they work things out together. She can apologize for her many mistakes and her children know that although she strives toward perfection, she’s far, far from it. And that’s ok with them.

And that healthy, normal kid thing? Well, that lady I see in the mirror has realized that this “different” child of hers has already wrapped herself around her finger and taught her more in one year than she could have ever dreamed of learning without her. That daughter with the syndrome has taught her a whole new realm of strength, endurance and pure love.

In my “future motherhood outline” I never planned on being the one to help educate specialists about a syndrome they have never heard of before and fight for what my daughter needs with all my might. I never dreamed of being the mom who tries to encourage strangers to go on “vision walks” or to have to teach a child to walk with a cane.

But here I am.

And although last year I never thought I would say this, I’m so thankful that I’m not that Mom my younger self hoped I would be.

I’d bet that very few of us mothers are.

Someone wise once explained that you can’t direct the winds; but you can adjust the sails.

This Mother’s Day, may we all strive to embrace that wind that inevitably fills our lives and learn how to guide our sails not toward our dream-like storybook best, but our own real best.

For more information about Lucy, click here.

research progress

noreply@blogger.com (shawni) — Mon, 26 Apr 2010 18:16:00 +0000

Click here for the latest research report from the Foundation Fighting Blindness. Good stuff going on.

Easter

noreply@blogger.com (shawni) — Mon, 12 Apr 2010 18:43:00 +0000

goals met!

noreply@blogger.com (shawni) — Wed, 10 Mar 2010 16:10:00 +0000

Last weekend we had our first vision walk. It was so great to see how it runs and to feel involved. Next year we'll be a little more on the ball getting our kids doing their own fund raising, but this year my Mom and I were able to donate a big chunk from our book royalties and the girls did come up with some whizbang last-minute fund-raising ideas the night before the walk:
(Just in case you are wondering about Grace's creative outfit...it's a soccer, spring mix she came up with for soccer practice that night...)These girls have a wagon of cookies they went rolling around the neighborhood to sell. I'd like to note I had nothing to do with this.

Over 500 people showed up and the $80,000 goal mark was SO close to being met. Our personal "I Love Lucy" fund-raising goal was reached and we had a great time with dear friends and my dear Mother who came just for this event.Thank you FFB!! We're so happy to help race for a cure.

Vision Walk

noreply@blogger.com (shawni) — Tue, 02 Mar 2010 21:55:00 +0000

We have had so many people ask how they can help with the "I Love Lucy Project" and for that we are so very thankful!

In light of the Vision Walk coming up for our family this weekend, one woman has decided to make a difference not only with helping raise money to fight blindness, but she is making a difference in the lives of those in her family by getting them involved. She and her family have decided join the Vision Walk in their own community and have created their own "Team Lucy" in their neck of the woods. To read about it click here. (Thank you Ashley!)

To find information about whether there is a Vision Walk coming up in an area near you in the near future click here.

Update

noreply@blogger.com (shawni) — Sat, 16 Jan 2010 22:24:00 +0000

We want to thank everyone who helped spread the word and raise matching funds to fight blindness before Christmas. We just got the reports back and since everything was matched TWO times by such generous contributions, together we raised almost $28,000!!!

Of course, we're still working on this and want to continue fighting for Lucy and others with these issues. Remember all proceeds from our book go to these foundations and of course, they'll accept any donations people want to send directly their way.

Lucy's future self is thanking everyone from the bottom of her heart...and I'm sure the future hearts of others who will be blessed because of this are swelling up too.

Thank you!!

The I LOVE LUCY Project

noreply@blogger.com (shawni) — Mon, 30 Nov 2009 18:53:00 +0000

When Shawni delivered her fifth child three years ago, a new and very different chapter opened in her family. Little Lucy was born with a sixth toe on one of her chubby little feet, and additional research led to the diagnosis of a very rare genetic syndrome called Bardet-Biedl which, unless remedies and treatments are found, is almost certain to cause blindness, obesity, and other issues for this sweet little girl.

Because of Lucy, we have realized what an incredibly amazing, intricate, astounding creation our bodies are! As we spoke to the world’s most knowledgeable Doctor on this Syndrome, Dr. Philip Beales at the University College Hospital in London, we discovered the amazing fact that on the 9^th day of conception, the little hair-like strands attached to Lucy’s cells (and all our cells) called cilia, uniformly started waving like octopus tentacles to the left (rather than to the right) which placed all of her internal organs perfectly on the opposite side of where they normally would be.

There were other incredible manifestations of this rare genetic disease which required a mutant gene on both sides of the family…so rare that we would have to go back many generations on each family line to find it! But there it was…that rare genetic combination…telling Lucy’s body to make an extra toe, telling her optic nerves that they would degenerate and create something called retinitis pigmentosa which would render these gorgeous blue eyes legally blind sometime between the ages of 9 and 15. Not only that, her genes have registered an order to slow down her metabolism and to turn most of her “fuel” into fat.

As devastating as Lucy’s diagnosis is, we are greatly encouraged by ongoing research for Lucy’s issues. The Foundation Fighting Blindness has had a recent breakthrough in their research and through innovative gene therapy has been able to partially restore sight to a nine-year-old and has given some sight to those born virtually blind. However, they are in desperate need of funding.

Therefore, we (Lucy's Mom and Grandmother) are launching the I Love Lucy Project to raise money for this and other foundations working directly on Lucy’s issues. This year we wrote a book together for Mothers which was published just as Lucy was diagnosed. It is called A Mother’s Book of Secrets and features lovable Lucy on the cover. As part of the I Love Lucy Project, we are donating all royalties for the book to research for Lucy’s issues. Hopefully this will provide a win/win way to help mothers and help Lucy at the same time. We are both miserable with promotion but we have the “Mother Lion” genes and are shamelessly asking for help!

Many have already contributed to Lucy’s cause by buying books, for which we are forever grateful. However, if you are looking for a lasting Christmas gift for your mother, sister, daughter (or daughters) or friends, or if you need an idea for a for a great stimulating Book Club book in the coming year, purchasing this book will be so appreciated and make you part of the I LOVE LUCY PROJECT!

In the book readers will enjoy Shawni’s spectacular family photography as they learn how to make motherhood more meaningful, manageable and even magnificent, with 40 little secrets from a seasoned mother of nine grown children and a mother in the thick of things with five young kids. Mothers will find “light in the trenches” as they learn the importance of taking care of themselves, finding balance and getting rid of the guilt. Moms of all ages will be tutored in how to give their family a sense of purpose through creating a short Family Mission Statement and how to generate great memories through traditions. They’ll find myriads of helpful ideas that include how to establish family laws, the secrets of getting kids to work hard and deal with money as well as the joy of service. There are also methods for teaching kids to work out their arguments without parental intervention, how to have fun with the BIG TALK about sex at age eight, and how to help children make good choices in advance.

Our publisher has joined our cause and is offering a 20% discount for online orders. You can order immediately by clicking here. (It is also available at Barnes & Noble and Amazon.)

Or you can simply learn more and donate to the Foundation Fighting Blindness by clicking here. All donations (tax deductible) received in Lucy's name will be donated to retinitis pigmentosa research, and will be matched 100% by the Eyrealm foundation (which will double your donation). Donations made by December 31st will be matched then AGAIN by chairman and co-founder of FFB, Gordon & Lulie Gund (for more details click here to watch their video clip).

Checks can be sent to:

Foundation Fighting Blindness
c/o I Love Lucy Project
11900 West Olympic Blvd #560
Los Angeles, CA 90064

On the memo portion of the check please write “I Love Lucy Project.”

The tax id # for Foundation for Fighting Blindness is 23-7135845.

We are ever more grateful for this adorable little individual who is such a joy to her parents, siblings, grandparents and to her enormous gaggle of cousins. Life just wouldn’t be as rich…or as difficult (which is what we need to grow) without Lucy. She accelerates the things we need to learn on this earth…love, compassion, getting out of our comfort zone, patience, empathy and problem-solving techniques. we all join in faith and hope that this little girl can be helped in her life journey through research!