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What is Sanfilippo syndrome?
by TeenHelp October 13th 2021, 01:16 AM

What is Sanfilippo syndrome?
Brittany (.Brittany.)

Also referred to as childhood dementia, Sanfilippo syndrome is a rare, genetic, metabolic disorder that currently has no cure. Sanfilippo syndrome only happens if a child gets a defective gene from both parents. When both parents have the defective gene, they have a 1 in 4 chance of having a child born with Sanfilippo syndrome. As a result, 1 in every 70,000 children born in America is born with Sanfilippo (Source).

Sanfilippo syndrome is a terminal illness caused by the child’s body being unable to break down carbohydrates (sugars). This damages the brain and nervous system. The child begins to develop at a normal rate but then begins to recede around the age of two. Eventually, this will cause the child to start losing motor skills, cause severe cognitive problems and they will begin to have seizures (Source). Even though there is no cure currently, researchers are working hard to discover a treatment.

Each child is different when it comes to the timing for losing skills. For example, Logan, a boy who is famous on TikTok (love_logan07), is 14-years-old and still has a lot of his skills. However, he is non-verbal, has not been toilet trained, and has recently started to lose the ability to chew and swallow properly. His mom, Noelle, believes that the fact he had a cord blood transfusion at a young age slowed the progression of the disease. On the other hand, six-year-old Haidyn (haidynshope), who also has Sanfilippo syndrome, has regressed more quickly.

Signs and Symptoms
Most of the symptoms go unnoticed until children are between two and six, even though they are born with it.
Some early signs of Sanfilippo Syndrome are:
  • Speech and other developmental delays.
  • Larger head size.
  • Ongoing diarrhea.
  • Sleep problems.
  • Behaviour issues that could be mistaken for autism.
  • Multiple ear and sinus infections.
The current life expectancy is 10-20 years (Source).
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