Many people have a lot of questions about Sanfilippo ... too numerous to list. Here we have tried to provide answers to the questions we hear most often. If you do not find an answer to your particular question on this page, please contact the Foundation by E-Mail and we will do our best to get you an answer.
Does this syndrome occur in just some ethnicities?
No. Sanfilippo syndrome can occur in any race and occurs all over the world. Certain types (A,B,C,D) are linked to certain areas in Europe but today you will see the disease in children of every race and nationality.
Since the waste product (GAGs) are sugar molecules can a restrictive diet help?
The body makes these molecules regardless of the diet of the affected person. All people produce GAGs (regardless of what they eat) but only people with MPS disorders are missing the enzyme needed to break them down and get them out of the body.
Why do some families have more than one child with Sanfilippo Syndrome?
Three facts about Sanfilippo contribute to families having multiple children with the disease.
- This is a recessive genetic condition meaning neither parent is affected with the disease but both “unknowingly” carry the mutations. There is a 25% with each pregnancy of having affected children.
- Sanfilippo children appear “normal” for the first several years of life and then gradually begin to show symptoms. Some children with Sanfilippo show only very subtle signs. For these children the diagnosis can come after age 5 or older.
- Diagnosis can take years even after the child displays abnormal development because so few clinicians understand the signs of the disease. Children with Sanfilippo Syndrome are often misdiagnosed with ADHD or autism spectrum disorders. Most affected children also develop hearing loss which further misleads clinicians, thinking that this is the cause for speech delay and behavioral problems. By the time the first child receives a diagnosis families have often had more children.
How common is Sanfilippo Syndrome?
Statistics place the incidence at 1 in 70,000 for Sanfilippo syndrome.
How many cases of Sanfilippo area there in SC?
Isabel is one of six children diagnosed with Sanfilippo syndrome in SC. Affected children also live in Simpsonville, Saluda, Johns Island, and Anderson.
Why does the disease progress faster in some children than others?
In general MPSIIIA and MPSIIIB both progress fairly rapidly with the lifespan being some where in the teens. MPSIIIC and MPSIIID are extremely rare and progression of the disease is slower with a longer lifespan. There is no formula for why some children with A and B live to be 20 while others do not live to be 10.