The following story is part of an ongoing series celebrating Rare Disease Day 2022. For more information, click here.
For many parents of children with rare diseases, their lives are turned upside down. Here, we learn about how Moira Taffarello, whose son suffers from Hunter Syndrome, took a proactive approach to finding support.
Moira Taffarello and her husband have experienced what no parent hopes to: their child being diagnosed with a rare disease. Speaking with Moira, she said, “Ever since my son Dennis’ birth, I felt something was off. He often had ear infections, regularly fell ill and cried more than most young children. Experts ignored our concerns for a long time, saying that I was just overprotective. But I followed my intuition, and when Dennis was two years and three months old, he was diagnosed with Hunter Syndrome.”
Mucopolysaccharidosis type II (MPS II), also known as Hunter Syndrome, is a rare genetic disease.1 Children with the condition build up an abnormal number of complex sugars in their cells, which affects many systems in their bodies. Hunter Syndrome primarily occurs in boys and is classified as lysosomal storage disorder (LSD).1 Symptoms look different for every child, but can manifest as physical, neurological and developmental challenges.1
After Dennis’ diagnosis, Moira stopped working full-time to care for him. While friends and loved ones wished her well, no one seemed to truly grasp what she and her family faced. Moira felt truly understood for the first time after speaking with another Hunter Syndrome caregiver. The conversation inspired her to offer support to those impacted by the condition, first by starting “Stichting Het Hunter Syndrome” (in Dutch) and now with the “Finding a Cure for Hunter Syndrome Foundation.” Moira hopes that this support group can give members the energy to keep fighting, just as connecting with another caregiver fueled her to move forward.
Moira strives to ensure that “Finding a Cure for Hunter Syndrome Foundation” members meet at least once per year to welcome new families and catch up. Speaking about the group, Moira said, “We understand each other. We hardly need words to explain the situation because we support each other mentally. We hope to contribute to the improvement of quality of life of our vulnerable children and their families.”
This Rare Disease Day, we continue to be inspired by caregivers like Moira who proactively find ways not only to improve the lives of their own families, but also those of others impacted by rare disease. While life affected by a rare disease can be isolating, Moira reminds us of the ways we can rethink rare and go beyond treatment to support those in need.