I am now at peace with my daughter Liv’s terminal, neurodegenerative, genetic disorder. Over four years ago, at age 2, she was diagnosed with Sanfilippo syndrome. Liv was still gaining skills at the time, but we were told that soon, it would shift, and she would start regressing and…
Discussion
Remove my roles of pharmacist, wife, and a mom to two kids, and who am I? What else defines me? This was the question presented to the parents of kids with Sanfilippo syndrome in a group therapy session recently. All the parents in the group have children with the…
Sanfilippo syndrome is a genetic disorder that leads to a form of childhood dementia. Learn more about the disease here.
Sanfilippo is caused by mutations in one of four genes that produce the enzymes needed to break down heparan sulfate. Learn more about what causes the disease here.
Symptoms range from behavioral problems to developmental delays and sleep issues. Learn more about the symptoms of the disease here.
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