Hannah’s Surestep Orthotics fitting today!

30 May by Mommy


I took Hannah to her orthotics fitting this afternoon.  Now that I am aware of her constantly rolling her ankles because of weakness (hypotonia), I can see why it will be a good idea for her.  The procedure itself was incredibly easy.  The orthotics specialist just took about 9 measurements on each foot and that was it.  Hannah did great, and she only squirmed during the last measurement!

We still don’t know if the insurance company will cover it, but they will let us know when they process the paperwork.  Keeping my fingers crossed there. 

samples2006He gave me a choice of patterns, and I chose the “blossom” pattern.  My reasoning?  I thought Abigail would like it the best out of all of them.  You know, my girly girl.  Cute little pink and purple flowers with butterflies. 

 The orthotics specialist told us that he would probably give me a call in about 3 weeks to bring Hannah in to test the fit.  Also, he made the comment that it is more difficult to find shoes that will fit over the orthotic braces at her age, but you know me, I will take on that challenge.

It is kind of bittersweet though.  Until now, Hannah hasn’t needed any “outward” assistive devices.  To everyone on the street, she just looks like a normal happy baby.   This will be the first assistive device that she will have to have.  I know, it is stupid because a lot of kids have these, and it could be SO much worse.  

But it is nice being able to be in denial every once in a while…

~ Filed Under: Hannah's Fight Tagged With: , , ,

Putting all the symptoms together

15 May by Mommy

Hannah had her monthly checkup with Dr. B., her pediatrician.   I realized after this visit that more and more symptoms are starting to come to the surface now…

* Lack of blinking.  I have no clue how long Hannah has had this issue, but we were only made aware of it by someone noticing in an elevator this week.  “Your baby doesn’t blink!”  Sure enough, I have watched her for up to 10 minutes at a time without her taking one blink.  Dr. B. tried it today too, and he was surprised that she was still was acting normal, playing, observing, interacting, etc., yet not blinking.  So, we know it isn’t a seizure or sorts.   After talking to Dr. Sidransky at the NIH, this is not a normal symptom of Gaucher 2/3 kids, so we don’t know if this is related to her Gaucher’s or something completely different.  She WILL blink when she is really tired, however.  I have to call her Dr. Edmund, her neuroopthalmologist, about this.

* Head circumference growing too fast.  For the past couple of months, Dr. B. has noticed Hannah’s head circumference is growing much faster than the rest of her body.  He was a bit concerned about it last month, and after seeing it still growing today, he wants to watch it for one more month.  I contacted Dr. Sidransky about this as well (there was talk of an MRI at her NIH visit but we decided against it because of sedation), and she made the following comment:  “We were interested in doing an MRI of the head because sometimes subtle hydrocephalus (enlargement of the brain ventricles) has been seen in children with Hannah’s mutation. That is why we discussed the sedation with you. It is not necessarily a common finding in neuronopathic GD, but with this observation regarding her head circumference, I feel that the study is clinically warranted, and we can do it when she is here. However, if other symptoms like vomiting or signs of pressure develop acutely and your physician becomes concerned, don’t delay because of the NIH visit. ”

* Motor Delays.  Dr. B. made the comment to me that from this point on, Hannah’s motor development, especially gross motor development, is going to go much slower than the normal child.  We are already seeing that with her hypotonia (low muscle tone) in her lower extremities and the need for orthotics. 

* Breathing issues.  This isn’t really new, but it is something we have been watching.  Basically, Hannah doesn’t cry like a normal baby.  She doesn’t wail, and she can’t scream because she just doesn’t have the lung power.  It is a combination of her lungs being smooshed for so long because her liver and spleen were so big and the hypotonia in her lungs and throat.  She also gets pretty winded after being active for about 5 to 10 minutes (like in therapy or playtime).  Unfortunately, this is where the possible trach would come in if things become more severe.  We just got to hope that they get stronger now that her liver and spleen are getting smaller.

* Ocular Motor Apraxia.  Nothing new to report there.  She has it, and she has supranuclear gaze palsy.  She is learning to thrust her head to get her eyes where they need to go quickly.  For example, if she hears something on the side of her, instead of just turning her head or her eyes like a normal person does, she thrusts her head and neck pretty hard to get her eyes there.

* Food issue.  Yes, we know she has neurological issues with her tongue.  She doesn’t know how to use it to eat solids.  We are working on that.  We are slowly seeing some progress, and when she is “on a roll,” she can finish a jar of baby food in about 45 minutes.  It just takes her a LOT of work to figure it out.  Dr. B. wants us to go to the 9-month+ formula in addition to the baby food.  We are still working with OT on this (actually, they are coming today!).

Just sucks… don’t know what else to say…

~ Filed Under: Hannah's Fight Tagged With: , , , ,

Physical Therapy, SureStep, and Supramalleolar Orthosis

14 May by Mommy

We started physical therapy at TCH yesterday. During her assessment last week, she was found to have “scattered skills,” meaning that her skills ranged from the 4-month level to the 8-month level. She has incredible upper boddy chest strength but incredibly poor abdominal and trunk strength, which is what is possibly causing most of her skill setbacks because she is using the wrong part of her body to do certain tasks.

Common sense tells us that because her abdomen was so huge that she compensated by using her upper body and her shoulders to get done what she wanted to do. Explains why she can sit, but she can’t get to a sitting position or crawl.

Today, Pam, her therapist, also noticed that she has low tone in her lower legs and ankles as well as no arches in her feet. When she stands, she rolls her ankles or angles out her feet to try and balance.

Mommy and Hannah’s homework:  The homework for this week is:  1) positioning Hannah in sitting with her hips leveled with or slightly higher than her knees to facilitate weight bearing through her legs ; 2) encouraging Hannah to lean her trunk forward when moving into the stance position so that her body weight is shifted anteriorly onto her forefoot, bilaterally, instead of her heels; and 3) encouraging Hannah to stand while holding on to facilitate balance reactions in the stance position.

So, she wants Hannah to get orthopedic high-top shoes called Supramalleolar Orthosis (SMOs) from SureStep.  They are similar to the picture on the left.   “The SureStep system is designed around the child with low muscle tone. It is a truly remarkable early intervention tool to help stabilize and align the lower extremities of children with hypotonia.”

The cost of these custom-fitting orthotics?  $1300 A PAIR (made by a local company because they are “custom”)!  And she would probably need a new pair EVERY 6 WEEKS until she figures it out on her own.  I hope our insurance company will cover it because there is no way we can afford these.  Pam is going to write a medical letter of necessity and ask Dr. B., our pediatrician, to write a prescription for them.

We’ll see how that works out…

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