Physicians and staff from the Trisomy 21 Program recently provided genetic counselors at Children’s Hospital of Philadelphia (CHOP) with a better understanding of the joys and challenges of raising a child with Down syndrome. The goal of the Genetics Grand Rounds presentation was to give genetics professionals — who are often the first to talk to families about a Down syndrome diagnosis — more tools and resources to share with families across the patients’ lifespan.
Speakers included the following:
- Mary Pipan, MD, Trisomy 21 Program Director and Behavioral Pediatrician;
- Alison H. Downes, MD, Developmental Pediatrician with the Trisomy 21 Program;
- Helen Milligan, MPT, PT, Physical Therapist with the Trisomy 21 Program;
- Tricia D. Wilson, RN, Nurse Coordinator of the Trisomy 21 Program;
- Caitlin Haas, MPH, BSN, RN, Executive Director of the 1789 Fund; and
- Aidan Milligan and Tyler Wilson, teen patients with Down syndrome.
Drs. Pipan and Downes discussed the primary mission of the Trisomy 21 Program: To optimize the health and well-being of all individuals with Down syndrome throughout their lifespan. For many patients, care and planning begins with a prenatal diagnosis, while others are not diagnosed with Down syndrome until after birth. Either way, CHOP’s Trisomy 21 Program provides support to families throughout their child’s critical learning and developmental stages. Along with regular review of the child’s health, development and behavior, the program ensures families have access to appropriate medical and behavioral care, as well as therapeutic interventions, and community, educational and family support. CHOP’s physicians, therapists and social workers keep an eye on next steps for each child, as well as how best to support patients as they build foundational skills needed for independence and self-reliance in adulthood.
Caitlin Haas, MPH, BSN, RN, executive director and co-founder of the 1789 Fund, a nonprofit global health foundation, added insight from a family’s perspective. When Haas’ youngest daughter was born with Down syndrome in 2019, genetic counselors primarily focused on the challenges her daughter would likely face; not the joy of welcoming a new child into the world. Yet, parents of children with Down syndrome often report how proud they are of their children and say having a child with Down syndrome has improved their own outlook on life. Young adults with Down syndrome also report positive outcomes: they are happy with their lives; they like themselves and love their families. Haas encouraged professionals to flip the narrative: put the child first (and their desires, aspirations and goals), and their diagnosis second.
Staff members Helen Milligan and Tricia Wilson, and their teenage sons with Down syndrome, led a discussion about what it’s like to live with Down syndrome, how the condition affects their daily lives today (as parents and teens) and their hopes for the future.