Boston Globe Article – Genzyme plight leaves patients uneasy

http://www.boston.com/business/healthcare/articles/2009/06/18/genzyme_plight_leaves_patients_uneasy/

The article came out that I was interviewed for yesterday afternoon.  I’m so glad to see the neuronopathic Gaucher’s disease is finally getting some awareness, but I wish it was not because of the Genzyme plant shutdown.  Again, here are my thoughts on the situation just in case it wasn’t clear in the article.

But, at least now there are more people who know how devastating a disease that Neuronopathic Gaucher’s Disease (as opposed to the type 1 Gaucher’s Disease) is for families.   I wish they had elaborated more on how children with type 2 and type 3 have severe and progressive neurodegenerative brain function decline and that type 2 children have a life expectancy of no more than 2 years and that type 3 children have a life expectancy of young adulthood — if they are fortunate.

It is such a misconception that all Gaucher’s Disease is a treatable disease.  Yes, for the 95% of those patients with type 1, it IS a treatable disease.  But for patients like Hannah and Kyle and the other GD23 patients, it is the only option we have of keeping our children comfortable and prolonging their lives in hopes to find a treatment that will cross the blood-brain barrier and remove the fatty particles from our children’s brain that are not being filtered out.  It angers me to no end that there are so many websites on the internet that report this falsity!

Our children our so incredibly underfunded and underresearched.  Genzyme’s Cerezyme has given up “hope” to help slow down the progression of the neuronopathic portion of the disease so that we can work to find a treatment!   Hopefully the Parkinson’s Disease community will open their eyes soon to see that our children may hold a key to understanding their disease and work with us!