One Year Ago …

Our world changed exactly one year ago today….

We have a diagnosis!

OMG, I’m shaking as I type this. I just got a call from our genetic doctor’s nurse. “We have a diagnosis” is how she started the conversation. It is official. She has Gaucher’s disease! Even though Gaucher’s is still a rare and serious condition, there is hope and treatment! We don’t know what subtype of Gaucher’s it is yet, but the fact that it COULD be type 1 (type 2 and type 3 are life-limiting), which will give her a normal life span, OMG, there is hope!!!!!

Our genetics doctor wants to see us this afternoon, so I have to take off now. I’ll update more when I get back tonight!!!

(later that afternoon)

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!)