There are four different enzyme deficiencies that have been found to cause Sanfilippo syndrome. The disorder is described as Sanfilippo type A,B,C, or D. The birth rate for all four Sanfilippo Syndromes is 1 in 70,000 births . There is a 1 in 4 chance with every pregnancy that the child will inherit the defective gene from each parent and will be affected with the disorder. Our three daughters have Sanfilippo IIIC, which is one of the rarer forms.
Each child is at a different stage of the disease. Although there have been some bumps in the road, you’ll be happy to know as young adults who have Sanfilippo Syndrome our three girls - Jillian, Lindsey and Kelsey- are doing better than expected. However, some lowlights include Jillian’s increasing balance problems, Lindsey’s 26-day hospitalization and G-tube implantation, inability to communicate and loss of night vision and Kelsey’s chronic body aches and scoliosis. All have memory issues, anxiety, and weakened immune systems. In spite of all their problems they are three young ladies who truly enjoy life’s little pleasures and show their appreciation very readily.
When they were younger, all three would participate in soccer and basketball; ride bikes and swim. They were girl scouts. They loved to sing , dance and participate in drama. Many of these activities are no longer possible for them and as the months and years pass less will be available to them.
In Canada, at the Sainte-Justine Hospital, Dr. Alexei Pshezhetsky conducts research on MPSIIIC. Hopefully, in the near future, he will produce an effective treatment for Sanfilippo Syndrome. Please help us raise funds to support their work by donating today.
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