Since I have so many visitors that want to follow Hannah’s journey with us but aren’t into the “blogging” thing since I do tend to post A LOT, I created an “update” page (you can also see it in red on the right as well as on the dropdown menu under “Meet Hannah”). I’ll be updating this page every few weeks so you can just bookmark that page to get the latest on everything going on in one place. Hope this helps!
You can get email notification of these updates by going here.
Where we are at now…
(as of 4/19/2009)
Hannah’s Health
Hannah just recently had her almost 9-month checkup, and things seem pretty stable right now for the past month, yay! Her abnormal eye movements (lack of saccadic movements, supranuclear gaze palsy, etc.) do not seem to have gotten worse, or she has found a way to adjust to this situation. She is still growing like a weed, and she is 18 lb 7 oz and 27 inches long.
Developmentally, she is still testing delayed in physical (testing at 4 months of lage), adaptive behavior (testing at 5 months of age), and communication (testing at 6 months of age). Not surprisingly, she is testing at the 8-month level for cognitive ability and at the 11-month level for socio-emotional behaviors.
She does have some feeding issues where she does not know how to use her tongue to eat solids (which is a neurological feature of her disease), which has caused some feeding issues. So, we are going to be meeting with a speech therapist to see if she can evaluate Hannah and work with us on teaching her how to use her tongue correctly to eat.
She had a swallow study last week (where we found out about the tongue issue). We were worried about swallowing difficulties because that is one of the next symptoms we are to look for. Fortunately, her swallow study came back normal, and we were able to prove that she is swallowing correctly and not aspirating fluid or food into her airway!
She does have fluid in her ears (clear, not infected), so we have to go back and see her ENT doctor. Just like her sister! (However, if we have to go the ear-tube route, we have a major obstacle to deal with – sedation).
Disease Update
We received the DNA sequencing back, and surprise, surprise! In the entire registry of Gaucher’s Disease (over 6600 patients of which 95% are type 1), there has never been her combination of Gaucher’s mutation before! There is nothing in the literature about this combination (84gg, the most severe type 1 — D409H, one of the most severe type 3), so they have no idea what to expect. So at this point, we still don’t know if it is type 2 or type 3, because as I was told, this doesn’t automatically make it type 3 because “just like mixing mayo and mustard, you create a whole new type of mix, not two separate flavors.”
Upcoming
Hannah has a neuroopthalmology appointment next week along with her bi-weekly Cerezyme treatments (which she handles like a pro!). We are now 2-1/2 months into her Cerezyme treatments, so hopefully within the next 6 to 8 months, we can get an official update from her genetics doctor as to whether or not the Cerezyme treatment is affecting her Gaucher’s Disease.
She has developmental therapy once a week with Early Childhood Intervention and occupational therapy every other week. Speech therapy is also going to be thrown into the mix very soon.
We are in talks with the National Institute of Health to have them sponsor us for a visit their facility next month (they cover all expenses). Since they have never seen this combination before, they are interested in evaluating Hannah in hopes of learning more about this disease and hopefully find a treatment. It is exciting in the fact that these are the absolute experts in this disease.
Treatment or Cure?
Unfortunately, nothing even close yet. I’m still scouring all the latest news regarding companies working on various aspects of this disease, and I have about 6 or 7 leads. But nothing that will have anything available within the next year or so. All these people that are working on GD2 and GD3 need money.
There has been a definite link established between Gaucher’s Disease and Parkinson’s disease, so I want to learn more about this in hopes of securing funding to explore this more.
How we are doing?
We are doing good. Stressed, tired, and overwhelmed. But we have a sense of the ability to slow down just a bit since the results of the swallow study knowing that the disease hasn’t progressed to her swallowing yet.
We need money though. We need money for research to save her. There are scientists out there “on hold” or going on a “slow pace” because there is no money for their projects, and that just kills me!!! There has GOT to be a way to raise money for this!!! My first goal was to raise $10,000 by Hannah’s first birthday (July 25th), and we are only 1/3 of the way there.
We eventually need BIGGER money, but all those who have donated $10, $25, $100, etc., THANK YOU! I definitely adds up!! If you can help us by hosting a fundraiser in your area (Chic-Fil-A did a very successful one for us, plus we had good friends ask for donations for Hannah’s fight instead of gifts for their son). We really need all the help we can get
Hi,
I just wondered, has there been any mention of a bone marrow/cord blood transplant for Hannah?
My husband and I traveled with our 9 1/2 month old son to Toronto, Ontario to SickKids to see a specialist in Gaucher on April 1st. The news wasn’t good.
They said that Kyle will die without any treatment at all. He’ll only live to about age 10 with ERT, and during that time his development will slow and eventually stop.
They said Kyle’s best chance is to do a bone marrow/cord blood transplant. The told us of 2 other cases like Kyle’s where BMT was done at SickKids hospital. One who was 9 years old and underwent a BMT after neurological manifestations, it was a success and she is now 18 years old (her disease was diagnosed at 1 year of age).
Another child had early neurological disease, had a successful transplant, but died of disease progression. This child was already have seizures and other major problems.
They said their hope for Kyle is that a transplant will halt the neurological progression and possibly even reverse it. There is an 80% chance of success with the actual transplant, but they can’t say for sure whether it will be successful in stopping disease progression. They said Kyle is doing so well right now – no neurological issues except the slight eye issue thing – that now’s the time to do this if we’re going to.
After much discussion and prayer, we have decided that this is the best possible chance for him. They are going to start him on a high dose of ERT, and our immediate family has had the blood work done to see if any of us are a bone marrow match for Kyle.
We’ll find out the results around the 28th. If none of us are match, then it could be up to 3 months before they find one. If one of us, this will take place in just a few weeks time. It means 11 days in the hospital prior to the transplant where he’ll receive chemo to kill off his cells, and then he’ll be in isolation for 1.5 to 3 months, give or take.
Anyway, I just wondered if this option had been mentioned at all.
Take Care,
Melissa
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