I finally got a copy of Hannah’s records from the hospital where all of her specialists are downtown. Dr. G., the genetics doctor, wrote a letter to Hannah’s pediatrician, Dr. B. regarding our last visit. He mentioned he noticed “frontal bossing” on her forehead. According to the NIH, frontal bossing is an unusually prominent forehead, sometimes associated […]
[Continue reading...]Possible oral enzyme replacement therapy instead of IV infusion?
30 Jan by
This gives me hope that Hannah may not have to have IV infusions (Cerezyme) when she is older for the physical symptoms of Gaucher’s Disease! Being able to take a pill would be so much easier!!!! Need to keep my eye on this one! (Hopefully we don’t have to worry about neuro symptoms, but if […]
[Continue reading...]Politics of being a doctor?
30 Jan by
Would you believe I’m just now getting around to be able to blog something that happened this morning? Crazy day! I got a call from Dr. G’s nurse coordinator today (Hannah’s genetics doctor). She wanted to know why we were switching to Dr. E. (the head of the genetics dept whose own nurse coordinator called […]
[Continue reading...]Gaucher’s Disease – in the news!
29 Jan by
Amicus Therapeutics, Inc. (FOLD) Announces Fourth Quarter and Year End 2008 Financial Results Release Date …Amicus is initially targeting lysosomal storage disorders, which are severe, chronic genetic diseases with unmet medical needs. Amicus has completed Phase 2 clinical trials of Amigal for the treatment of Fabry disease and is conducting Phase 2 clinical trials of Plicera […]
[Continue reading...]Infusion Center
29 Jan by
I was checking out the website page for the hospital’s infusion center for Hannah’s IV Enzyme Replacement Therapy (Cerezyme) treatments. It looks like they really do try to make the patient’s comfortable. I definitely think I’m going to bring a Wiggles DVD for Hannah and headphones, as that is the only thing she loves to […]
[Continue reading...]Wow, I never thought I’d see this!
29 Jan by
When I first created my Hope for Hannah cause on Facebook, my realistic goal was to max out at about 100 or so members. We hit 400 members today. I figure probably 90% of them had never heard of Gaucher’s Disease before, and that is a lot of awareness that we have created so far. […]
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