Story about Sanfilippo Syndrome .

Diagnosing Emily. A journey with Sanfilippo Syndrome

Jan 1, 2018

By: Danielle

Year Condition Began: 2005


Emily was born a perfectly healthy, 8lb 12oz full term baby girl. She progressed typically until around 3.5yrs old we thought her speech should be a bit more developed than it was. She had also developed what we assumed to be ADHD. Em's first specialist was the Neurologist who did diagnose her with ADHD and put her on a medication called Focalin. Next we decided to get her hearing tested for the speech issues and we found that she did indeed have some mild hearing loss. Hearing Aids were purchased that were never tolerated and became the world's most expensive chew toy. About a year later we went to an ENT to try to figure out why she had so many infections. Em was a constant faucet of mucus. Adenoids were removed, and then in another surgery, tonsils came out. The removal of the two helped a great deal with her ENT issues and her snoring stopped completely. Finally we thought we were on the road to getting our baby girl moving ahead. I decided to start fresh with a new pediatrician and that was the end of life as we knew it. The new doctor immediately saw MPS in Emily's face and sent us for testing. Her diagnosis came in, May 2010, Emily being 5yrs old. Our lives have not been the same since. Emily is now looking towards her 13th birthday coming up in February (2018) very much affected by the illness. She is doing well all things considered though. I have learned over the years that I cannot dwell on what I cannot change.
Story about Sanfilippo Syndrome

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