Dear Fellow Parents,
I hope this message finds you surrounded by love, strength, and the kind of courage that only parents of children with special needs truly understand. I’m writing to share our family’s journey in hopes that it brings connection, comfort, or clarity to anyone walking a similar path.
Our daughters, Margaret (21 years old) and Bridget (18 years old), were both diagnosed with Sanfilippo Syndrome (MPS III) on June 30, 2022. Even now, it feels surreal to put those words on paper. Their form of the disease is extremely rare—an attenuated gene type—meaning their symptoms were far less obvious and progressed much more slowly than the classical form most clinicians recognize.
For many years, we sensed differences, but nothing pointed to a clear diagnosis. Both girls are bright, fully verbal, social, active, and are learning to drive, which is far from what physicians typically expect with Sanfilippo Syndrome. They attended school, participated in everyday life, and achieved milestones that didn’t align with the textbook picture. Our concerns at the time didn’t point us in the direction of genetic testing, because nothing in their earlier development suggested a rare metabolic disorder.
Everything changed when both girls experienced seizures, something they had never struggled with before. That was the moment when doctors realized there might be an underlying cause we had not yet explored. After those seizures, we were referred to a genetic doctor, and for the first time, testing began to look beyond the usual explanations.
The road to their diagnosis was emotional and overwhelming. After deeper and more advanced genetic testing—far beyond what is typically offered—we finally received the answers we had been searching for. On June 30, 2022, we learned that both Margaret and Bridget have Sanfilippo Syndrome Type IIIB, caused by an attenuated gene mutation so rare that most medical providers will never encounter it in their careers.
Learning that your two daughters have a progressive neurodegenerative disease is something no parent is ever prepared for. It brought grief, fear, determination, and hope all at once. Yet finally having a diagnosis also brought something we had been missing—direction and understanding. With answers came community, purpose, and the ability to advocate for treatments, research, and expanded access that could shape their future.
If you are a parent still in the “searching” phase, please know this: you are not alone. Trust your instincts. Advocate fiercely. Ask the extra questions. And don’t be afraid to request genetic testing, even when symptoms don’t fit a traditional pattern. The complexity of the diagnostic journey is never a reflection of your child’s worth—or your strength as a parent.
Margaret and Bridget—like your children—are extraordinary. Their paths may be different, but they are filled with purpose, resilience, and immeasurable love. I hope our story reminds you that answers are possible, even when they take years to uncover, and that together, we can support one another through every step.
With compassion and solidarity,
Kathleen Lindquist
