Sisters with Sanfilippo Syndrome

April 4, 2023

by Anna Kidwell

I am mom to two girls, Ashleigh and Brooke, who were diagnosed with Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo Syndrome. Our other two daughters are carriers but not afflicted. It is a devastating diagnosis with no treatment or cure. The life expectancy is 15.

Our angel Ashleigh passed away 5 months before her 30th birthday. Brooke is now 30 and doing as well as she can with a neurological disorder. Ashleigh had the DNA test for markers and it had to go through three labs before an even rarer discovery was made. Ashleigh’s markers were on her introns not exons. Both my husband, Dave, and I had to be tested as well to see who had the anomaly. Emory has written this up since it had never been seen before.

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