As an experienced mom of a child with Down syndrome, Gwen Beideman has one overarching piece of advice: “Contact the Trisomy 21 Program at CHOP.”
Gwen’s daughter Andi is now 12, and through the years the program has supported their family formally through the Trisomy 21 Clinic and referrals to specialists who have expertise in treating children with Down syndrome, and informally by offering advice and support through phone calls and community events.
CHOP’s Trisomy 21 Program follows individuals with Down syndrome from infancy through young adulthood.
Led by director Mary Pipan, MD, the clinical program includes experts in developmental behavioral pediatrics, neurology, speech, occupational and physical therapy, social work, nursing, and education. The program cares for more than 1,200 children and 300 adults.
Families that receive a prenatal diagnosis may request a prenatal consult that provides resources and counseling to help them prepare for the birth of a special-needs baby. There are annual receptions for families of children up to age 2 that provide information and support and facilitate families connecting with each other. Grandparents also have their own session to learn about the condition and how best help their grandchild.
The program also partners with Parent-to-Parent, nonprofits in Pennsylvania and New Jersey that match newer caregivers with more experienced caregivers so they can share strategies for issues that arise during different life stages.
When Andi was a toddler in the Trisomy 21 Clinic, Gwen learned that even though Andi wasn’t talking yet, she could communicate through sign language. “Our whole family, including Andi, learned sign language from videos really easily,” Gwen recalls. “It was a huge help. When Andi started preschool, she could say five words out loud, but she could sign more than 300 words. It was our main way to communicate until her speech developed.”
Gwen then passed this advice forward, sharing with a friend, whose son with Down syndrome was a few months older than Andi and who was experiencing communication frustrations caused by speech delays.
As Andi has matured, Pipan and the therapy team have tracked her progress and guided not only her physical care, but also education and therapy-related care. “She’s an invaluable resource for us,” Gwen says of Pipan.
The family is comforted that Andi can keep returning to the Trisomy 21 Clinic as an adult. “It’s a relief to know the resource will be there for us at CHOP when issues come up in the future,” Gwen says.
Other components of the Trisomy 21 Program
Annual educational programs
Sessions held for families and others who care for children and adults with Down syndrome cover medical, developmental, behavioral, educational and therapeutic issues and interventions to optimize health and well-being.
The program has a robust research arm, and many families, such as the Beidemans, participate in studies to advance and improve care. “We have benefitted from earlier research,” Gwen says, “so we volunteer for studies whenever we can. We are so very thankful to the program, and we want to give back.”
Team members speak to parent support groups, schools, early intervention specialists and others on trisomy 21-related topics.
Family/LEND fellow mentorship program
Parents support CHOP’s teaching mission by mentoring healthcare professionals in relevant disciplines (genetics, PT, OT, social work, developmental pediatrics) who are part of the LEND program by sharing what it is like to raise a child with Down syndrome. Fellows visit the families’ homes and accompany families to doctor visits or school meetings.
REACH (Rapport, Empowerment, Advocacy, through Connections and Health) events
These workshops for older teens and young adults with trisomy 21 help them transition from school to work.
Regional subspecialty referral network
Because individuals with Down syndrome are at greater risk for a wide range of other medical problems, the Trisomy 21 Program has developed a list of specialists who treat these conditions and who also have expertise in treating children and adults with Down syndrome.
Support for inpatient families with a child with trisomy 21
A member of the program team can visit the bedside to offer emotional support and information on programs in the families’ communities.