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How do I know if I have Sanfilippo Syndrome?

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

Do I have Sanfilippo Syndrome?
4 answers
If your child displays the symptoms listed above, or you have family history of the illness you should be checked out.
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

Posted Jan 1, 2018 by Danielle 3160
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

Posted Feb 25, 2019 by Patty Jesse 3000
Urine Gag levels and facile features and blood tests can determine Sanfilippo syndrome.

Posted Nov 3, 2019 by Anne-marie 2500

Do I have Sanfilippo Syndrome?

Sanfilippo Syndrome life expectancy

What is the life expectancy of someone with Sanfilippo Syndrome?

6 answers
Celebrities with Sanfilippo Syndrome

Celebrities with Sanfilippo Syndrome

5 answers
Is Sanfilippo Syndrome hereditary?

Is Sanfilippo Syndrome hereditary?

6 answers
Is Sanfilippo Syndrome contagious?

Is Sanfilippo Syndrome contagious?

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ICD9 and ICD10 codes of Sanfilippo Syndrome

ICD10 code of Sanfilippo Syndrome and ICD9 code

5 answers
Natural treatment of Sanfilippo Syndrome

Is there any natural treatment for Sanfilippo Syndrome?

4 answers
Living with Sanfilippo Syndrome

Living with Sanfilippo Syndrome. How to live with Sanfilippo Syndrome?

4 answers
Sanfilippo Syndrome diet

Sanfilippo Syndrome diet. Is there a diet which improves the quality of lif...

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World map of Sanfilippo Syndrome

Find people with Sanfilippo Syndrome through the map. Connect with them and share experiences. Join the Sanfilippo Syndrome community.

Stories of Sanfilippo Syndrome

SANFILIPPO SYNDROME STORIES
Sanfilippo Syndrome stories
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...
Sanfilippo Syndrome stories
Abby was thought to have PDD-NOS until October of 2017 when she was diagnosed with Sanfilippo Syndrome-type A. She is 22 years old.
Sanfilippo Syndrome stories
Was 14 years old in 2005 when he gained his wings MPS/sanfilippo/type A
Sanfilippo Syndrome stories
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.
Sanfilippo Syndrome stories
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...

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