What signs or symptoms may make you suspect you may have Sanfilippo Syndrome. People who have experience in Sanfilippo Syndrome offer advice of what things may make you suspicious and which doctor you should go to to receive treatment
You must have genetic testing to see if you have Sanfilippo Syndrome. Typically they start with a urine GAG test and then move on to further testing that can include MPS/SF specific blood tests, whole genome sequencing, skin blasts
If you have broad nasal bridge and bushy eyebrows, recurrent ear nose or throat infections, delayed learning or speech, possibly hearing loss. Hyperactivity, sleep issues . You should see a genetic doctor to run test if you suspect you have symptoms
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 special...
Reagan was diagnosed at age 3 with MPS III A. Reagan has some hearing loss and speech delay. Reagan is currently involved in a Gene Replacement Therapy Trial.
My daughter was diagnosed with Sanfillippo Syndrome 3 a month after my son passed away at the the age of 26 days old. He was on life support and we has to disconnect life support due to him needing a heart and lung transplant and his organs were fail...