I feel so lucky to have found my “one person.”  She is a mom who has a child with similar issues as we have been presented with Hannah. 

There are so many emotions that I have been feeling over the past few months, and she is the only one who I can come to completely about my thoughts, not worrying if I’m not being politically correct or not.  Just laying my feelings out there as they are — raw, naked, and the complete truth.  She gets me.  She is living the same thing I am to some extent, and she and I just have that understanding.

I think this relationship was solidified when we were able to meet in person.  She is no longer just an email address, but she is a mom who I can share laughs with about the ridiculousness of some of our situations, the fears that we both face with losing our children, and the stresses about transitioning to a special needs lifestyle from one where I was told my child probably wouldn’t live one year.

I am so so so so so so thankful for her.

Hannah is now 15-1/2 months old.  Yet to this day, I still couldn’t tell you how much she actually comprehends on what level.  We talk to her all the time, and there are only a handful of “commands” or communication that she understands. 

“Uppies” –>  She knows that means we are picking her up and sometimes she lift her arms up a bit

“High Five” –> She’ll give us her version of a high-five, which is like a soft raking of our hand with hers

“Up — Down — Up — Down” –> A new game she has started when she is on her knees leaning against something, she will go up and down on her knees.  She has no idea how fantastic this is for her hypotonia, but she loves the interaction when we say “up” she goes up, and when we say “down” she goes down.

“Where’s Hannah” in conjunction with giving her a towel to play Peek-a-boo.

But that is all I can think of that she knows at this point.  Anything else we say to her feels like it goes on deaf ears.   Then, I started feeling depressed and saddened again.

Then I go back to this little VTech driver toy that we bought almost 8 months ago for Hannah.  We have played with it almost every day since then.  For the first few months, she would just like to make the roller turn with a raking gesture.  We would try to get her to play with the other buttons and dials, but she wouldn’t try it on her own.  Then, she would start playing with the horn for a month or so.  Finally just a few months later, she would attempt to play with the other gadgets on here.

Finally, 8 months later of playing with this toy ALL THE TIME, she finally will sit by herself and play with all the buttons, features, and knobs.  This is one of her favorite toys right now. 

For Hannah to learn cause and effect requires so much patience, repetition, and consistency.  It isn’t something that can be learned by imitation because she doesn’t have the natural ability or understanding to imitate people or sounds or gestures.  It is by doing something thousands of times in hopes that some day SOMETHING will click and she will get it.

But this does mean she is able to learn cause and effect, and it is a process that she has gradually started building on with other toys and actions.  All her therapists agree that getting her toys with buttons/gadgets and music/sound attached are one of the best things for her.

So the other night I went to our local used children’s stuff store, and I found this little Hannah-sized chair and attached desk from Fisher Price.  She took to it immediately and absolutely loves it.  The hidden benefits of this little toy are amazing –  different types of toys with immediate cause/effect sounds, book page turning practice, and most of all, practice on sitting in a chair AND doing it while twisting your body slightly. 

Hannah has very weak trunk rotation, which is part of the reason she has trouble with mobility, so watching her sit there while turning her trunk to play is such great exercise for her!  Also, this little chair is the perfect height for her to play with other toys like her learning table for which she was only able to stand for 10 minutes or so at a time before getting too weak.   Also, we have used this chair quite a bit to help her learn to get up to a standing position, and having the chair back support is a great fallback if she needs it.

So this holiday season, my focus for her is for finding more toys with these gems like this great find.  Even though it takes her a while to understand what to do, she loves playing with toys that “do something” if she does something, especially if music or sound are involved.

I just need to remind myself to look at her Vtech driving toy to remind myself that she will eventually “get it.”  It will just take her a lot of time, a lot of patience, and a lot of love before she does.

http://www.genengnews.com/news/bnitem.aspx?name=67331403
 
Nov 3 2009, 11:02 AM EST

Genzyme to Evaluate to-BBB’s Technology for Delivering Biologics to the Brain
GEN News Highlights

to-BBB’s lead in-house project is 2B3-101, a G-Technology formulated doxorubicin, currently in preclinical development.  A Phase I/II trial is expected to start during the second half of 2010. Additional preclinical-stage in-house projects are ongoing in diseases including Alzheimer’s and lysosomal storage diseases.

Hannah's first attempt at peas and pasta wheels - at least she tried it!

It has been a rough couple of months.  I still feel like we aren’t anywhere close to being settled in this new “special needs parenting” life.  I guess it is a process, a journey, and not a quick sprint to a destination. 

Along the way, I have seen the “real” in people in my life.  I look at people like my brother-in-law and sister-in-law and am just so blessed to have them fight so hard for us and for our family since day one and on so many levels.  There are people in my life that I just expected would be here fighting with us, helping us, but they have all but disappeared.   It makes me mad, sad, and just totally confused. 

But I can’t change what I can’t control.  It all goes back to “it is what it is.” 

My life is just so not what I expected it to be.   I can’t say that I have regrets because Hannah is just so damn worth every trial, worry, and change.   But I do wish that things could be easier or just even more calm and in order. 

It is one thing to raise a chronically-ill child, I think.  You know what you are dealing with, and you have to learn to accept it and find a way to live your life that certain way.   When you are raising a child with a disease like Neuronopathic Gaucher’s disease, especially a variant like Hannah’s that is a “puzzle” to the doctors, you just don’t know which way is up some times.   Having a disease that you know is going to take her away from us at some point just, well, you never feel like you settle into a way of life.

I’m having a hard time dealing with things lately, this lack of order and sense.   I’ve been trying to find a job that will give me the flexibility to be able to take care of Hannah during the day as well as the other kids when they get home from school.  I’m hoping that my old MT company will bring me on part-time, but if they do, my weekends and evenings are gone.  But what choice do I have? 

It has been really slow going getting Hannah on to the medically dependant children’s program (MDCP) here in Texas.  We are now in the waiting stages to plan our 24-hour stay at a nursing home, but we are waiting on our case manager to get the paperwork in order.  We have already been approved for the program.  Once we complete our stay, Hannah is eligible for Medicaid (instead of waiting 6+ years) as well as getting money for respite care.

The respite care has been something that I have started to look into as well.  We know how much money Hannah has qualified for, and I feel very fortunate that it will be able to provide us at least 20+ hours a week of care.  We need to use at least 80% of it or we lose it (I don’t know the exact number).  Hannah is so dang attached to me these days that it is going to be a gradual process, a very slowgoing one at that.  I’m hoping to find someone like an occupational therapist or special needs preschool type teacher to provide respite.  Hannah needs a lot of time spent with her working on simple task because it can take doing something very simple over a hundred repetitions before she picks it up.  I like the fact we can choose who our respite caretaker is going to be!

Hannah also starts hydrotherapy tomorrow.  I know how wonderful it will be for her, but I just have a bad feeling in my gut that she is just not going to want to do it.  Even though she loves bath time, I also know that she seems to cry quite a bit because it is with her current OT, and she refuses to go to her without crying hysterically.  Granted, Hannah cries hysterically when she goes to anyone else but me or Daddy.  Well, she will go to Jenny, her developmental therapist, but that has been a 11-month once-a-week relationship that has been built. 

We have her 12-month ECI evaluation next week.  I’m kind of dreading it because I know that Hannah’s development in the five primary early intervention areas has dropped off quite a bit in the past four to six months.   She is falling farther and farther behind, and it is just so hard to see that chart.  It is just a slap-in-the-face reality check of this disease. 

Even with as well as Hannah is doing with her medically being “stable” in terms of her symptoms, her brain is still being destroyed slowly – cognitively, behaviorly, and developmentally.  She is trying so damn hard, but every single breath and movement is such a chore for her because of the brain disease and her hypotonia.  It shouldn’t have to be this way.  She doesn’t deserve this.

But gosh, if you could see the smile on her face.  OMG, she smiles so much and is so happy.  She has no idea what is going on with her.  All she wants is me.  Pure love, right there.   With all the delays and physical issues, her smile and the thrill in her face when she sees me – it is truly priceless.   I wish everyone could be enveloped by this smile — she could change the world with her sweet grin.

Talk about a rambling post.  My brain is much like this post.  Rambling, trying to figure out where I am at, wishing that my life could be more in order instead of just living for that moment and getting through to the end of the day.  I know there are other special needs families that seem to have their lives under control, even with all the medical-related issues.  Why can’t I seem to get it together?

There is a lot of stuff going on, but it mostly is just still trying to get into a routine with all her therapies, doctor visits, and the rest of our family life. 

• We meet with Dr. Roy, the otolaryngologist, next week to reevaluate her vocal cord weakness and laryngomalacia.
• Met with Dr. B., the pediatrician, yesterday.  Hannah is pretty much stable for the past two months with everything she has going on plus she gained 1 lb and 4 oz and almost an inch in the past two months.  The one thing that still resonates in my head is that he considers Hannah’s developmental progress “slow.”  Yeah, I know it is slow…
• We are going to start planning our NIH trip in the next couple of weeks.  I can’t believe it is time already!
• I have to get Hannah setup for her overnight nursing home stay so that she will qualify for the Medically Dependant Children’s Program here in Texas instead of waiting on the 9-year waiting list.  Kind of makes me uneasy, but we have no choice if we want to get services now.
• We meet with GI next month as well to reevaluate her reflux plus we have an appointment wtih Dr. Schiffmann up in Dallas in early December.

Time is sure flying by!

Question is, now how can we capitalize on this and get the Parkinson’s community to start paying attention to our Gaucher kids?

Gaucher disease linked to Parkinson’s – Los Angeles Times
Mutant Gene Raises Risk of Parkinson’s (WebMD)
Glucocerebrosidase Mutations in Parkinson’s Disease  New England Journal of Medicine (subscription)
Study Conclusively Ties Rare Disease Gene To Parkinson’s – Medical News Today

After Jenny and I answered the STs questions about where Hannah is out now, I realized that she doesn’t have the cognitive skills for real communication yet.  She really is only at a 6- to 9-month level still.   She really doesn’t even pass the NIH’s speech and language development milestones for 6- to 11-month olds as you can see below.

• She doesn’t understand “no” yet.
• She can’t babble “ma ma” or “da da” yet.  She only babbles “ga” and “aga.”  We lost “da da da da” (not referring to daddy, just the sound).
• She doesn’t try to communicate with us for the most part, except for a wail when she is upset.
• She doesn’t try to repeat our sounds because she doesn’t have the ability or knowledge of immitation (something we apparently take for granted!)

The lack of the ability to imitate has been our biggest obstacle to overcome.  You don’t realize how much children learn by imitating people, sounds, things, etc.  Hannah has to be taught everything, and that is repetition dozens and sometimes hundreds of times.  But she is able to learn still, it is just a complicated and difficult process. 

So the speech therapy, Jenny, and I decided that we are going to try and start Hannah on sign language at this point.  Simple signs like “more,” “all done,” and “food/hungry.”  Until Hannah has the basic skills for communication at a 12-month-old level, she really wouldn’t benefit from speech therapy as much, especially since we have occupational therapy twice a week working on feeding and other issues.  So we are, for now, just going to have monthly consultations with our speech therapist to see where we are at, monitor Hannah’s progress, and continue to give us suggestions.  She will also be working with Jenny directly, so Jenny is going to be working with us on her weekly visits on that as well.

Hannah is just learning “cause and effect”, just during these past couple of weeks.  This is a huge milestone for us, as it is the very beginning of the communication path.  

Once Hannah becomes more communicative and understands communication better, then we will go to weekly speech therapy visits. 

Hannah is almost 15 months old.  I keep forgetting how delayed she really is until someone points it out to me or I see other kids her age doing things so much more advanced than she is.

I just keep reminding myself that I have to be patient.

The event is a fundraiser for the Children’s Gaucher Research Fund. Children’s Gaucher Disease is a progressive debilitating genetic disease that attacks children and causes a variety of systemic and neurological medical complications. The public is encouraged to participate in the tournament and may register by contacting their local Coldwell Banker Residential Brokerage office or sales associate. For more information on the Children’s Gaucher Research Fund, please visit www.childrensgaucher.org.

For more information on the Gregory Austin Macres Memorial Golf Tournament, call 925-275-3085.

Gaucher monitoring results from Sept 2009 were good and improved from May 2009.  All three showed reduction from May (the trend we want to see) and two of three (angiotensin and chito) are now in normal range.  Since Hannah has shown good response with regard to these markers, we do not need to monitor so frequently. 

Normal range!!  Two of the three are in the normal range!!  They were between 8 to 20 times the normal value when we started 9 months ago!!!   I’m so thrilled to see such a great improvement, especially since her dosage hasn’t been raised since we started (it is based on weight).  I can’t wait to see what her liver and spleen are measured at next week when we see Dr. B., her pediatrician. 

THIS is great news!   If only the Cerezyme crossed the blood-brain barrier…

We met with the Cardiologist this morning.  Hannah does NOT have an ASD (atrial septal defect), but instead they believe she has a PFO (patent foramen ovale).  It is something that is very common, almost 30% of the general population have one.  It can be left alone for the most part unless Hannah developes migraine headaches when she is older, then they can close it.  Otherwise it is just something that will be monitored but left alone!  Great news on that front.

However, they also noticed that Hannah’s aorta is slightly dilated.  This is of some concern, as if it continues to dilate, it could cause an aortic dissection (think John Ritter).   But for now, we are just going to monitor it and do another echo in 6 months.  There are three schools of thought on this:

1. It could be related to Hannah’s D409H genetic mutation, which when homozygous, is known to have the propensity for cardiac calcification issues.  Perhaps her never-before-documented combination could related to aortic issues? 
2. It could not even be related to Hannah’s Gaucher’s Disease, and it is just something “else” we need to keep an eye on.
3. It is just a normal variant for Hannah, and this is the size of her aorta.

In 6 months, we will have a better idea whether or not it is just a normal variant for Hannah or if it is indeed a cardiac issue that is going to have to be closely monitored over the course of her life.