“Before our sweet son Abe’s MPS I diagnosis in 2024, we had no knowledge of MPS, no idea that we were carriers of this genetic disorder, and no conception of how this rare disease would change our lives. Likewise, newborn screening has brought us to our knees in both grief and gratitude: hearing that our precious two-week-old baby had an incurable disease broke our hearts, but now seeing how this early diagnosis has led to better outcomes for him has been humbling.
Once we received the definitive diagnosis, we joined the National MPS Society, which personally reached out to us and became our guardian angel. They gently encouraged us to seek specialized care for Abe and to explore the possibility of a clinical trial at the University of Minnesota. Two months and several enzyme infusions later, Abe was the fifth participant accepted into the clinical trial and the third randomized to gene therapy, a revolutionary treatment for MPS I.
Abe received his ‘new and improved cells’ on September 10, 2024, after a short chemo regimen and was discharged a month later. Today, Abe is thriving! His once-deficient enzyme level is now above average, and he has consistently met developmental milestones. We are profoundly grateful for the kindness of the many healthcare workers and specialists who have cared for Abe, the tireless efforts of the National MPS Society, and the generosity of this community.
Caregivers openly share their resources and their stories to benefit current and future members of the MPS community, and we are thankful to be part of this supportive network of families bound together not just by the devastation of a diagnosis but the collective, powerful hope for a cure.”
