Coarse facial features & a big smile
In the height of COVID, I was swiping through videos when I came across one of a beautiful boy with almond eyes, thick but perfect eyebrows and a big smile. I learned that his name was Logan and his mom was the narrator of his videos. I was drawn to his smile and laughter as he happily bounced on an indoor trampoline. I looked through their videos and quickly learned that Logan was living with a disease I had never heard of. I took a deep dive into his videos and knew I had to reach out to his mother. Noelle Pacl, Logan’s mom was a guest on the podcast and shared her experience raising Logan, a 15 year old, who is living with Sanfilippo Syndrome. Read her story here: Noelle’s Sanfilippo page
What is Sanfilippo Syndrome?
Sanfilippo Syndrome is a terminal and rare degenerative disease. There is no cure. There is no FDA approved treatment.
One gene defect is the cause of this disease. This one change in their DNA causes their bodies to lack a very important enzyme, which is supposed to breakdown the bodies natural waste. Without that enzyme the brain and body become obstructed with toxins that continue to cause life threatening effects.
“It causes children to lose all the skills they’ve gained, suffer seizures and movement disorders, experience pain and suffering, and then die, often before the second decade of life.”
– Cure Sanfilippo Foundation
What age will my child be diagnosed?
When a child is born there may be signs of Sanfilippo Syndrome, however, the unfortunate reality is that most symptoms occur between the ages of 1-6. This is when parents start noticing that their child may be on a different developmental path than a neurotypical child. With a 100% mortality rate, most children living with this disease live to be in their early teens.
As a neruotypical child develops they continue to build on the skills they gain. Their brain continues to develop and their bodies continue to grow.
Though a child with Sanfilippo Syndrome will continue to grow their brain digresses. Take a minute to imagine losing the skills you have gained over the years. Now, imagine your loved ones watching you lose those skills. It’s a scary and extremely heart wrenching thing to imagine let alone experience first hand.
This disease takes away the child’s speech, self-help skills, cognitive skills and more. Some children experience different types of seizures as well. The one thing I haven’t seen it take away is a child’s smile.
One last thought
As the interview progressed, Noelle continued to inspire and amaze me. She is a mother, wife and warrior. The epitome of someone living for every second of every day; making memories for her family to remember for years to come.
If you’ve read up to here I’m sure you’re overwhelmed with feelings of sadness. This disease sucks. It’s as simple as that. However, if you listened to the episode with Noelle it is clear that there are some things Sanfilippo Syndrome can’t take from these children. The strong bond and memories these families make with their little ones. The smiles on their child’s face as they enjoy sensory input, hikes, walks and more. t’s impossible for me to imagine being part of a family with a child living with a terminal illness, but I can take something out of their stories. Never take a memory, moment or second for granted. Take a second everyday to jump for joy like Logan does on his trampoline. Take a second to go outside and breathe the fresh air. Take a second to just remind yourself of all the good in your life.
I think about Logan and his family often. I do think about what this awful disease has taken from him. Logan has lost skills as he has grown, but the one thing that he will never lose is the love he receives from his family.
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