I’ve got so much information going around in my brain right now that I know I’m going to put something wrong here, so bear with me. We met with Hannah’s genetics doctor this afternoon, and he believes that Hannah has, most likely, Gaucher’s type 3 (life expectancy late teens to early adulthood). This is based on “his research” and the fact that her symptoms presented at birth, which is extremely unusual. It would be more likely Type 2 (life expectancy 2 years) because of the onset of symptoms, but because she isn’t showing any neurological signs and she is almost 6 months, he feels that type 3 is most likely. He doesn’t believe it is type 1, but he cannot say for sure. Basically, this is such a rare condition that this hospital (one of the top 10 in the country) only has 4 patients with it.
There is a treatment, Cerezyme, which will deal with the physical aspects of Gaucher’s disease. We are looking into getting it started. However, preliminary research for this shows this treatment to be about $10,000 a treatment — treatment is every 2 weeks via IV — that’s over $200,000 a year. I have NO CLUE what our insurance will cover. Obviously, this is one of the top things I”m going to look into now that we know what we are dealing with. I mean, they aren’t going to NOT treat her, are they?
There was also talk about a bone marrow transplant, but I forgot how that fit into the scope of things. More research.
We still have to “wait and see” on the neurological symptoms (which separate type 1 and 2/3). If she shows any neuro signs like more significant developmental delays, eye movement problems, seizures, etc., then that means it is definitely type 3 and it is progressing. The developmental delays she has now he won’t attribute to a “neurological problem” at this point because 1] she is so young and not that delayed, and 2] she was one month premature.
I’m going to be sharing a LOT of stuff over the next few weeks about what I learn, be forewarned.
Gaucher’s disease, type 3, gives Hannah 15, 20 years or so with us. But you know what, we can handle that. A LOT of advances can be made in just a few years. Hannah will be at the forefront of those advances, if I have any part of it. Which I plan to (and am recruiting a lot of people to help once I figure it out!). If she does indeed have type 3, and she develops neurological problems, then we will do whatever it takes to keep her a happy baby and make her comfortable. I’m not scared of having a special needs child, especially when she has a smile that warms your heart like Hannah’s does.
Thank you for all your prayers and good thoughts. Please keep them coming. We have a wild ride ahead of us, and we could use all the support and helpful ideas we can get! (Especially with dealing with insurance companies!)
I’m glad you have a starting point. I hope there is positive news on insurance coverage and you can get some direction.
you must feel at least somewhat better to have something solid to go and “attack”. 20 years is huge for advancements in medicine. Or maybe the cord blood transplant could help?
On a monetary note, I’d ad adsense to your blog and also figure out how to collect donations…There are many of us out there that would like to help and would 1. check out ads that were on your site and 2. potentially donate to help defray costs. You could also try ads on your site through project wonderful.
Looks like you have the right attitude. 15 years IS a long time for medical advances and your positive attitude will take you far.
Keep us posted.
Well, I certainly don’t want to say congratulations, but it must be HUGE for you to know the beast Hannah is facing — and that it’s not the worst case senario. I’ll pray for a type one diagnosis (assuming that’s the best case senario) and easy answers to all the questions and worries.
Don’t forget that if you need my help with anything, I’m ready and willing to jump in.
Your family will remain in our prayers–keep your faith–15 years is a long time when dealing with medical advances… Hannah is a very special child and she needs a very special mama! Take good care–I’ll be back to check on you and little Hannah 🙂 God bless!
You have a very precious little girl! I couldn’t help but cry while reading Hannah’s Story and the posts about her condition, as I am always sad when an innocent baby faces obstacles. You are a very strong and admirable woman, she obviously knew what she was doing when she chose you as a mother–she was confident she would be wanted and loved. It is no wonder she is happy, she has everything she needs. I pray that she lives a long and healthy life. NEVER give up hope!
Wow. Finally……an answer. I too will pray that you will get a type 1 diagnosis, but if it’s 3, I agree…… 15 years is a great amount of time. Especially with all the great stem cell research going on etc…… I’ll be thinking and praying for you all.
Carrie,
I am glad you finally have the news you need to gear up to fight your opponent. I will always keep Hannah and your family in my prayers. I pray for good news on the insurance front!!
Ok…. so we have a starting point… and now the fight begins! You know that ANYTHING I can do, I’m there for you. That includes bone marrow donations. Tim and I can both be tested as a match. I’m going to do my own research too and see if there’s anything I can find to help.
You know you are all loved.