The story of Heather
Hello, my name is Josiah David O’Neal! I am just ten years old! A little over a year ago I was diagnosed with MPS111A/Sanfilippo Syndrome Type A! Mirroring the many effects, and displaying similar characteristics to Autism, I was misdiagnosed for the first 8 years of my life! Sanfilippo syndrome (mucopolysaccharidosis type III; MPS III) is a devastating neurodegenerative lysosomal storage disorder of childhood. The cause of MPS III is an inherited mutation in one of four enzymes required to catabolize heparan sulfate (HS) The enzyme that I am missing is meant to breaks down sugars! Therefore my body stores these GAGS (Garbage) effecting everything within my body, but mostly my brain! Many medical professionals refer to this as a sort of “Childhood Alzheimer’s.”
Life expectancy of a child suffering from Sanfilippo is 12-15 years of age! Over the last year I have slowly began to loose many of the things I once did! Now in a wheelchair, I struggle everyday to stand up & take just a few steps! I love to run and play, now I am fully assisted! Sanfilippo only effect 1/70,000 children! If you know someone searching for answers about their child, and they continue to get a diagnosis of “Autism” yet they know in their heart something is not right, please refer them to a geneticist! My family had no idea what Sanfilippo was before I was diagnosed! Now we live everyday for today, and I am still he happiest little boy you ever will see!