Where we are now…(as of 8/1/09)
My baby girl is ONE year old now! This was a milestone that I spent many nights fearing we would never see over the past year, but here she is. She made it. Not only that, she made it in style! We are having a big birthday party for her tomorrow!
We had a wonderful experience at the National Institutes of Health where we met Dr. Ellen Sidransky, Dr. Ozlem Goker-Alpan, and their team of neuronopathic Gaucher experts from NeuroOpthalmology to Rehabilitation Medicine to Neurology to Speech Pathology and so many more in between. We walked away from the visit feeling incredibly empowered, because we finally had a handle on what symptoms she does have and suggestions on what we can do to improve her progression (physically).
For a complete list of what we found out there, click here. But to summarize, she has an atrial septal defect (probably not related to GD), vocal cord weakness (not sure how it is related to GD, as it has never been seen in GD before), global developmental delays, ocular motor apraxia and supranuclear gaze palsy, severely decreased blink reflex, slight lid retraction, decreased central tone and increased peripheral tone, and loose ligaments in her lower extremities.
Bottom line, they won’t “type” Hannah as a type 2 or type 3 at this point because she doesn’t seem to classically fit into either of these categories. Daddy and I walked away feeling that they felt she should be a type 2, but she isn’t acting like a “classical” type 2 but more like a type 3. Regardless, she is the “Hannah type” at this point!
Treatment and Research
With everything that has been going on during the past month, there isn’t much to add. Gaucher Foundation UK has put out a very informative newsletter this past month which includes some of the research going on overseas.
Once Ethan and Abigail start school in a few weeks, I’m going to start working on a fundraiser to try and raise money for some real research to help Hannah and the other nGD kids. For those in and around the Virginia area, there is a walk on September 20th to help raise money for our nGD kids – please consider participating!
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