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!!!
I am so very excited for you, and I will keep you and Hannah in my prayers as you learn more!
(I’ve tagged you on my site–I thought you might play along–but if not, that’s okay, too!)
We are praying for your family, C. I am glad you finally got the diagnosis. We pray she lives unaffected by this disease.
I am so glad that you finally have some answers. Keeping you in my thoughts!
Hooray! I’m glad that you are happy with the test results and hopefully you can have a good night’s rest for a change. I’m off to go look it up….
That’s great news! I hope it’s type 1 and I am going to read up on it so I know what’s going on. Thanks so much for sharing the diagnosis – I continue to pray for you guys and hope for the best. Take care.
Praise God for a diagnosis! Continued prayers for you and little Hannah as you learn more about what her future holds.