Unfortunately there is a lot that I have been doing for the past few months that I can’t blog about. But I have been talking to researchers all over the country, different lysosomal storage disease organizations, as well as trying to reach out to the media. I really only post when it is something that […]
[Continue reading...]Baby J, you will never be forgotten…
27 May by
Baby J. He wasn’t even 7 months old. I emailed with his mom a few weeks ago shortly after he was diagnosed. Now he is gone. He had Gaucher’s type 2. My heart is breaking for his parents, as it just happened so quickly. I’ve been sitting here with Hannah leaning against me, watching the Wiggles, […]
[Continue reading...]Happy 10-month birthday, Hannah!
25 May by
Happy birthday to you, Happy birthday to you, Happy birthday my Little Miss Hannah, Happy birthday to you! It is so exciting to finally think about celebrating Hannah’s first birthday. This was a luxury that we hadn’t allowed ourselves to think about up until just this past couple of weeks. Honestly, we weren’t sure if […]
[Continue reading...]Sly Syndrome: Delivering Medicine To Fight Rare Genetic Disorder
25 May by
http://www.sciencedaily.com/releases/2007/07/070726085925.htm ScienceDaily (July 27, 2007) — The scientist who discovered “Sly Syndrome” nearly four decades ago and a team of colleagues at Saint Louis University are a step closer to finding an approach to treat the rare genetic disease. Sly Syndrome causes bone defects, mental retardation, vision and hearing problems, heart disease and premature death. […]
[Continue reading...]Interview with Genzyme Horizon’s Reporter
24 May by
I had my first official interview regarding Hannah and Gaucher’s 2/3 Friday afternoon. A reporter from Genzyme’s (the people who make Cerezyme, Hannah’s enzyme replacement therapy) called to get “Hannah’s story” for their upcoming newsletter, Horizons. This newsletter will go out to the entire Gaucher community (types 1, 2, and 3), clinicians, etc. It was a […]
[Continue reading...]Meeting with a Parkinson’s Neurologist
23 May by
About a month ago, I sent an email to the Baylor Department of Neurology’s Parkinson’s group asking if I could meet with one of their clinicians to have Hannah’s symptoms evaluated. I explained that Hannah has neuronopathic Gaucher’s disease, and I wanted to talk with someone regarding the possible commonalities between the two diseases. Yesterday afternoon, […]
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