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On March 28th, Olivia was formally diagnosed with Mucopolysaccharidosis, Type III; or Sanfilippo Syndrome. Sanfilippo syndrome is a rare genetic condition that causes progressive deterioration of neurological function. It is one of many lysosomal storage disorders. Olivia is missing a functional enzyme that breaks down and recycles a complex sugar molecule called 'heparan sulfate." Because she cannot break this down, it accumulates and causes damage to the cells of the central nervous system, including the brain. As the brain gets progressively damaged, children experience severe hyperactivity, disordered sleep, loss of speech, cognitive decline, cardiac issues, seizures, loss of mobility, inability to eat by mouth, and finally death.
Children with MPS III usually appear healthy at birth, but developmental delay is usually evident by age 2-5 years. Mental and motor development peak by 3-6 years of age, after which intellectual decline usually occurs. Behavioral problems such as hyperactivity and irritability may become obvious earlier. Severe behavioral disturbance is a very common feature of Sanfilippo syndrome, and one of the more difficult aspects of the disorder to manage.
Other symptoms can include coarse hair, excess hair growth, slightly coarse facial features, sleeping problems, mildly enlarged liver and/or spleen, respiratory and ear infections, diarrhea, hernias and seizures. Children with MPS III also often experience bone malformations, hearing loss and vision impairment.
Children with Sanfilippo syndrome usually start to lose their intellectual functions, especially speech, before their motor function declines. Death can occur from before the age of 10, with the average being around 15 to 20 years of age.
We are absolutely devastated for our baby girl. It's very difficult now to think about the future but we are attempting to remain as hopeful as possible. There is currently no treatment or cure for Sanfilippo syndrome, but there is promising research being done with enzyme replacement and gene therapy. We are praying that there will be a clinical trial that Olivia will be able to participate in or that there will eventually be an FDA approved treatment.
Baby boy is due May 8th. He has a 25% chance of having the same genetic condition. He will be tested shortly after birth, and we would have results within a few weeks.