An operator checks a harvest transfer tank at Genzyme's manufacturing facility in Boston, Massachusetts May 3, 2010.
Brian Snyder / Reuters
When Hannah Ostrea was five months old, she was diagnosed with Gaucher's disease, a genetic condition in which the body lacks the enzyme needed to break down a fatty waste product called glucocerebroside, leaving it to accumulate in the body's organs. The disease is painful, with the excess glucocerebroside impairing mobility and delaying growth. Hannah's form of the disease, Neuronopathic Gaucher's disease, also causes brain damage and eye movement disorders and makes swallowing difficult. Neuronopathic Gaucher's affects less than 1 in 100,000 live births and the life expectancy of a sufferer is between two and 20 years — Hannah is now two. But because the medical community won't dedicate time or money to an illness that affects so few, there is no cure on the horizon. "Unless you have a celebrity who has a personal interest in your disease or you have a 'popular' rare disease ... there are no big foundations, large fundraisers, or even any interest in assistance," says Hannah's mother Carrie. "It's so hard knowing that there is so little research out there for my daughter, and that because of this, we will likely lose her sooner rather than later."
Read more: http://www.time.com/time/health/article/0,8599,2012177,00.html?xid=newsletter-daily#ixzz0xFHTmI13
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