My daughter’s diagnosis with Sanfilippo syndrome type B

“I think Liv has a lysosomal storage disorder,” the text message read. It was from a stranger — a pediatric neurologist and friend of my sister-in-law — who had seen a photo of our daughter, Liv, on Facebook. Liv was 2 at the time and had been through several tests looking for answers to a few medical issues. We were mainly concerned about gastrointestinal issues, including food intolerances, and possibly a liver disorder. Never in our darkest nightmares did we imagine a fatal genetic disorder to be a possibility.

In the time between receiving that text message and seeing a geneticist, I spent countless hours learning about lysosomal storage disorders (LSDs). More than 50 have been identified, and each is scary in its own way.

A lysosome is a sac in a cell that contains enzymes, which break down cellular waste. LSDs are caused by defective genes and can result in damage to various organs, with many of these disorders being life-limiting. Some LSDs have treatment options; some don’t.

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A few weeks later, I got the call that confirmed our suspicions and shattered our life into pieces. “Liv has mucopolysaccharidosis type 3, or Sanfilippo syndrome,” the geneticist said. I sobbed at my desk as the vision of my daughter’s healthy future was ripped away in an instant. “It is life-shortening with a life expectancy of mid to late teens, and it causes considerable mental and physical disabilities. There is no cure, nor any approved treatments at this time.”

Not Liv, not my beautiful baby girl. Would she be in pain? How much time would we have with her? These thoughts raced through my mind after hanging up with the geneticist.

Sanfilippo syndrome is a neurodegenerative genetic disorder that can affect multiple organs. I was told Liv, who has type B, would likely peak cognitively between 2 and 4 years old, and then regress. She’d fully lose her speech, her ability to walk, and her ability to feed herself. Sanfilippo is often referred to as childhood Alzheimer’s.

That day, my soul was shattered. I had no idea this type of genetic disorder even existed a few weeks earlier. In 2018, I’d vowed to love my husband in sickness and in health, never imagining that in 2022, it’d be our daughter who was given a life-threatening diagnosis.

Moving forward after Liv’s diagnosis

Erin and Tyler Stoop with their children, Liv and Liam, in 2024. (Courtesy of Erin Stoop)

I’m Erin, Liv’s mom. We’re almost three years out from Liv’s diagnosis. She’s now 5 and doing well, all things considered. There’s been only one clinical trial for Sanfilippo syndrome type B, which began last year in Japan and aims to enroll 10 children. We didn’t apply for that trial, but we’re hopeful for an opportunity to participate in a gene therapy or enzyme replacement therapy trial in the United States in the future.

Liv is minimally verbal, but boy, is she loud, hyper, and happy. In the past year, Liv’s medical appointments, sick days, and daily needs have increased, so I took a step back from work to focus on our family. I’d never envisioned myself as a stay-at-home mom, and to be honest, it still scares me. But I know it’s the best thing for Liv and our family.

For the first six months after her diagnosis, I couldn’t talk to anyone about it without tears falling down my cheeks. I’m now at a point where I’m comfortable sharing Liv’s story, posting the successes as well as the heartaches.

Being a columnist for Sanfilippo News will be a great outlet for me, and I hope it brings a sense of comfort to others going through a similar caregiving journey. I also hope it’s a wonderful chapter in Liv’s beautiful book. I strive to be open, honest, and vulnerable.

If you’ve found yourself here and already know our family, I want to express my deepest, most sincere thanks for your continued support. Whether you’re new to Sanfilippo or have been in this game for years, I want this column to make you feel like you’re talking to a best friend. Fully honest, transparent, relatable, and with my deepest love for Liv.

Note: Sanfilippo News is strictly a news and information website about the syndrome. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Sanfilippo News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Sanfilippo syndrome.