Have you heard about the local foundation Liv Life? It was named for local principal Jacob Hubert’s daughter, Liv, after receiving her diagnosis of Sanfilippo Syndrome. Liv is now eight years old after being diagnosed at 2 1/2. Her parents continue to support her and celebrate her life, which they encourage you to do as well.
Another child living with Sanfilippo has been in news lately. Her name is Eliza O’Neill and her parents started the #SavingEliza movement. They have been living in self imposed isolation, hoping that their sweet girl will be chosen to be part of experimental trials of a new, single injection treatment for children suffering from the lysosomal storage disease.
Liv’s mother, on her blog, explains Sanfilippo Syndrome, “I want you to picture your clothes dryer. It’s a machine that most of us use everyday. Now imagine this dryer as your body. All dryers have lint trap vents or doors. This “lint trap” is what we have in our bodies called heparan sulfate (an enzyme). Kids with Sanfilippo Syndrome do not have this lint trap (or the missing enzyme heparan sulfate.) In our bodies that have that functioning “lint trap,” we can safely remove that lint trap, pull it out and dispose of the lint like we are suppose to (or in real anatomy, we pee it out). That lint that I’m referring too, in our bodies, is called glycosaminoglycans or GAGS. Like in Livia’s body, if a dryer is missing that lint trap, the lint (or GAGS) has no where to go but in places that we don’t want it to be. Can you imagine running your dryer over and over again and all that lint going into the exhaust pipe, or the motor, or other critical parts of your dryer that makes it run? Eventually, your dryer isn’t going to work properly due to all of that lint build up. Unfortunately, this is exactly what is happening to children that are diagnosed with Sanfilippo Syndrome. Those GAG’s (or lint) are building within their systems in all the places that we don’t want that build up. Just because one little part is missing, but, it’s a critical part. These GAG’s are building in their organs, tissues, joints, but mostly brain and central nervous system. This build up is what has caused her to stop talking, feeding herself, motor issues, seizures, swallowing difficulties, and eventually death.”
Eliza’s Story recently posted this-