My name is Joanne and I am Mom to two daughters, my oldest, Sasha, is twenty six years old and diagnosed with Sanfilippo Syndrome Type IIIA when she was eight years old. Our experience with Sanfilippo Syndrome thus far has been a fortunate one with unexpected prolonged stages. From the earliest years, significant developmental delays were apparent followed by several years of extreme hyperactivity and sleepless nights. Then, we had many years of a perfect balance - mobility being strong while hyperactivity waned. Recently however, we've felt the heartbreak that comes with the loss of mobility and the confrontation of the reality of MPS with the placement of a g-tube. Regardless, a day doesn't go by where we aren't incredibly grateful for Sasha being with us.
Sasha is a spirited, happy and outgoing individual affected by Sanfilippo Syndrome. From her earliest years she was incredibly strong, active and agile with a love of parks, music, being in groups and snacking! Growing up in California there was seldom a day when Sasha didn’t stop at a park, and stopping in the car in general was frequent as she was a Houdini like no other. Removing seatbelts, shoes and clothing (then tossed out a car window on a Los Angeles freeway) were her main pranks, of which she had many. While we look back now on her first decade with great affection, these were challenging years, compounded by not knowing her actual diagnosis until almost 9 years old.
When seizures struck at age 6, our world changed. Carefree left the building. We spent years navigating a harrowing seizure disorder that progressively worsened in frequency and duration. A few years later, we relocated to New Hampshire where we assigned the Chief Pediatric Neurologist at Dartmouth Hitchcock Medical Center. Within less than a year’s time, he had Sasha’s seizures under remarkable control and also provided us with our long awaited diagnosis of Sanfilippo Syndrome Type A. This is when our world temporarily darkened.
Sasha’s first year post-diagnosis presented many adjustments – modifying our living quarters in anticipation of accessibility needs and building a care team to navigate her medical needs. School needs were unusual and we found an incredible community ready to embrace that challenge. Depsite an undercurrent of grief, these were such good years.
Today, Sasha is 26 years old, and age we couldn’t fathom almost two decades ago. Over the past few years, Sasha’s mobility has changed significantly and her eating has slowed, resulting in a g-tube placement in late August of 2024. She remains present and engaged with her surroundings and we strive to find ways to increase her inclusion in our day to day activities. Our biggest worry is Sasha feeling left behind. We hope she knows that she is and always will be the core of our family unit.
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