If we had the money… I would not have to worry about going back to work and would be able to take care of Hannah – talk about lifting 500 tons of stress off my shoulders! I would hire a part-time (12 to 15 hrs a week) “special needs” baby sitter to take care of and […]
[Continue reading...]Hannah has brainstem dysfunction
13 Aug by
Brainstem dysfunction. This is the term that both Dr. Goker-Alpan and Dr. Schiffmann used to describe Hannah’s neuronopathic Gaucher symptoms. For whatever reason, I didn’t flinch when we talked about her abnormal eye movements (supranuclear gaze palsy, ocular motor apraxia), her vocal cord paresis (weakness), or even her developmental delays. But for some reason, calling […]
[Continue reading...]Okay, I’m overwhelmed…
12 Aug by
I got Dr. Goker-Alpan’s summary from Hannah’s visit to the NIH. There was nothing in there that we didn’t already know from our meetings with them. However, I was reading her overview of the suggestions regarding Hannah’s vocal cord paresis, developmental delays, and feeding issues, and I just got overwhelmed. I’m not sure why. All […]
[Continue reading...]Management of neuronopathic Gaucher disease: Revised recommendations
12 Aug by
http://www.springerlink.com/content/k0053551261l9n07/ The original guidelines drawn up for the management of the neuronopathic forms of Gaucher disease were felt to be in need of revision; in particular, the role of high-dose enzyme replacement therapy (120 IU/kg of body weight every 2 weeks) in stabilizing neurological disease. The existing published evidence was analysed; it was concluded that it […]
[Continue reading...]Redoing our will – Setting up a Special Needs Trust
11 Aug by
We learned a lot from that recent Texas Parent 2 Parent conference. One of the most important things we took away from this conference was the needs to redo our will. For us, a will is not only designed to choose who will parent our children in case we should pass away before they do, […]
[Continue reading...]Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: A biological link between Gaucher disease and parkinsonism
10 Aug by
http://www.ncbi.nlm.nih.gov/pubmed/19576930?dopt=Abstract The Parkinson’s Institute, 675 Almanor Ave., Sunnyvale, CA 94085, USA. A growing body of experimental and clinical literature indicates an association between Gaucher disease and parkinsonism, raising the possibility that convergent mechanisms may contribute to neurodegeneration in these disorders. The aim of this study was to determine whether there is a relationship between alpha-synuclein […]
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