Sleepless Nights - Raising a Child with Sanfilippo Disease
Published Online: February 17, 2017
Dave Esposito is the father of a daughter diagnosed with Sanfilippo syndrome, a rare lysosomal disorder that currently has no treatment or cure.
As Dave explains in this interview, the behavioral and neurodegenerative aspects of this rare disease can be stressful for the family.
Dave recently took a sabbatical from work to learn more about Sanfilippo and hopefully find a means to treat his daughter before it is too late.
What is Sanfilippo disease?
Children with Sanfilippo syndrome have inadequate levels of specific enzymes needed to metabolize heparan sulfate. This leads to a build up of heparan sulfate in lysosomes that in turn leads to progressive neural degeneration.
There are 4 types of Sanfilippo syndrome based on the specific enzyme that is affected.
Sanfilippo Type A: heparan N-sulfatase.
Sanfilippo Type B: alpha-N-acetylglucosaminidase.
Sanfilippo Type C: acetyl-CoAlpha-glucosaminide acetyltransferase.
Sanfilippo Type D: N-acetylglucosamine 6-sulfatase.