What is it?
Children with Sanfilippo are missing an essential enzyme that breaks down a complex body sugar called heparin sulfate. This sugar slowly builds in the brain, stopping normal development and causing hyperactivity, sleep disorders, loss of speech, dementia and typically death before adulthood. There is no cure, yet.
Sanfilippo Syndrome is one of seven Mucopolysaccharide (MPS) disorders. There are four different enzyme deficiencies that cause Sanfilippo. The Sanfilippo disorders are described as type A, B, C, or D. There is very little difference between the four types, though there have been a few very mild cases of the B form reported where the children have remained relatively healthy into early adult life.
Kirby is Not Alone
While it is estimated that Sanfilippo occurs once in 70,000 births, every year thousands of children are diagnosed with one of more than 5,000 rare genetic disorders. Many more are not diagnosed. Successful research into Sanfilippo will apply directly to many of these rare conditions.
There is No Cure Yet… Only Hope
Right now, doctors can do little for Sanfilippo’s symptoms and nothing to stop the regression. When The Children’s Medical Research Foundation, Inc. was formed in 1995, the Wilsons found just one researcher working specifically on Sanfilippo “B.” To date, the Foundation has funded research at seven institutions. The solution seems simple – the more researchers working on this disease, the faster a treatment breakthrough will be found.
We need your support. Without you, there may be no cure. Without a cure, there is no future for Kirby and other afflicted children.
To learn more about Sanfilippo and other related MPS disorders, including contact opportunities with families, contact The National MPS Society at www.mpssociety.org.
