According to a story from Newsweek, when 25 year old Rebecca Griffiths first knew that her son Reggie, now aged two, was diagnosed with Sanfilippo syndrome, she had to face the reality that is life would more than likely be cut short. In fact, he will be fortunate to survive his teenage years. These are the sort of devastating realizations that parents must face when their children are diagnosed with a rare disease.
About Sanfilippo Syndrome
Sanfilippo syndrome, which is also known as mucopolysaccharidosis III, is rare genetic lysosomal storage disease. It is linked to a deficiency in the enzyme responsible for the breakdown of heparan sulfate. There are four different types of Sanfilippo syndrome and each one is caused by a different genetic mutation. In type A, the mutation affects the SGSH gene. The mutation caused is the only defining characteristic of the different types, which otherwise present similarly. Symptoms include behavioral abnormalities, dementia, sleep disturbances, difficulty speaking, developmental delays, deafness, and loss of movement. There are currently no disease modifying therapies available for this disorder. However, bone marrow replacement can be useful if implemented early. Most patients do not survive beyond their teenage years, but some can survive into their 30s. To learn more about Sanfilippo syndrome, click here.
While Reggie generally seems like a happy child, he has never spoken before, and more than likely he never will. At this stage in his disease’s progression, he is generally energetic and often has problems getting to sleep. Unfortunately, this period of activity will not last forever, and he will become progressively more reliant on caregivers to keep him alive.
Raising Money for a Cure
There is an urgent medical need for better treatment options for Sanfilippo syndrome. With this in mind, Rebecca is refusing to remain paralyzed by distress or despair, and held a fundraiser for the MPS Society on September 1st. The MPS Society is a nonprofit organization which is dedicating to supporting patients with lysosomal storage diseases as well as funding cutting edge research.
To learn more about the activities of the MPS Society, click here.
