Bertrand is a very special little boy. He was the first person ever to be diagnosed with a rare, fatal genetic disorder called NGLY1 that has left this seven-year-old paralyzed. Because the disease was only identified by scientists in 2012, and only a few people worldwide have been diagnosed with it, there is no cure and no treatment available. Because the disorder is so rare, a drug may not ever be developed to treat it. But, scientists have found that Bertrand responds to certain investigational therapies. So, Bertrand’s family will have to rely on trying new, investigational medications as long as they have access to them.
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