Sanfilippo Syndrome is a fatal progressive disease that primarily affecting children. A genetic defect passed on from each parent results in missing or poorly functioning enzymes needed for cells to work normally. Without these enzymes, cells are unable to break down and recycle cellular waste. Over time, this waste builds up causing cells act abnormally and then die. Sanfilippo Syndrome is named after the pediatrician, Dr. Sylvester Sanfilippo, who first described the disease while studying at the University of Minnesota (USA) in 1963. Since that time, it has been found that there are 4 different subtypes of Sanfilippo (A, B, C, D).
Sanfilippo Syndrome primarily affects the brain of children born with this disease. Children typically do not show signs of the disease until 2-6 years of age. The disease is working on them from the time of conception. However, it takes time for the body and brain to accumulate enough waste material to begin to cause symptoms like hyperactivity, speech delay, autism, recurrent ear/sinus infections. Children then begin to lose the skills they used to have- talking, walking, eating. Most children develop seizures and painful movement disorders before they pass away. Typical life expectancy for the most rapidly progressive form of Sanfilippo Syndrome (Type A) is in the mid-teens.
For some children, depending on age, there is hope for a chance via clinical trials (but spots are limited). We are thrilled that these children may see benefits and in some way decrease the impact of this terrible disease. No guarantees but all each parent asks for is a chance. We did everything we could last year to urgently provide the needed funding thanks to you, and it went to work to produce the Type A drug product for the Abeona/Nationwide clinical trial. You supporters did your part! We ask that you keep all affected in your thoughts and prayers. Pray that those working on a treatment are working with the same resolve and urgency as if it were their own children suffering.