Trisomy 21 (Down Syndrome): Sean's Story

Meet Sean Brightcliffe. Diagnosed at birth with Trisomy 21, or Down syndrome, Sean first visited The Children's Hospital of Philadelphia when he was 2 years old. 

His first consultation was with the Child Development and Rehabilitation Medicine team and, later that year, the Genetics team. 

In 2003, Sean began treatment with CHOP's new Trisomy 21 Program, led by David Lynch, MD, PhD, and Mary Pipan, MD.

Now four years old, Sean and his family visit Dr. Pipan and the Trisomy 21 team yearly.

Sean's mom and dad appreciate the way the Trisomy 21 Program staff collaborates and works together to share pertinent information with each other to benefit their son.

Sean enjoys seeing his friends, the stickers and toys and, of course, the pretzel cart.

Meeting Sean's individual needs

After meeting Sean and evaluating his developmental, behavioral and health needs, Dr. Pipan recommended that Sean receive physical therapy, occupational therapy, speech therapy and special instruction. Sean's parents worked with the Trisomy 21 Program social worker to establish Sean's individualized education plan (IEP), which defines Sean's developmental and educational needs. The IEP helps to determine what specific programs and services are most beneficial to Sean's growth.

The Trisomy 21 Program social worker also arranged for Sean's family to work with parent advocate, Ruth Landsman. As a trained advocate, Ruth has experience with and understands the rights of parents and their children with disabilities. Ruth has helped anticipate and find the support and resources that Sean needs.

Sean is enrolled in a typical preschool, where he now receives most of his therapy. Although Sean is the only child at his school with Down syndrome, his physical therapist comes to work on his gross motor skills and involves all of his classmates. Not only does this interaction help Sean build strong motor skills, but it also helps him to be more involved with his peers.

Sean's occupational therapist works with him on developing fine motor skills, such as holding his pencil and learning how to cut with scissors. Sean also receives speech therapy. At four, he is verbalizing and talking in three-word sentences and phrases. Sean's special instructor helps him with preschool activities like matching, colors, shapes, numbers and letters.

The Trisomy 21 team also recommended that Sean be involved in activities. As a baby, Sean and his mom belonged to a parent-child play/support group. Today, Sean remains friends with the children he met at his playgroup. The children play together on the same soccer team. Sean loves to run and kick the ball.

Coordinated care across specialties

The Trisomy 21 team has easy access to the many specialties at Children's Hospital. Sean visits the ophthalmology team once a year, the ear, nose and throat team every six months, and the audiology team every two to six months.

After several tests such as a brainstem response test (ABR), magnetic resonance imaging (MRI) and multiple hearing tests, Sean has been diagnosed with mild to moderate hearing loss. Sean received his hearing aids in August 2005. Typical of a little boy, Sean is not very fond of his hearing aids. But, Sean's audiologist works with Sean and his family on behavior reinforcements and strategies to help Sean adjust to them.

"Sean and I are getting a little better each day with our hearing buddies," says Sean's mom, Dorothy.

"In our eyes, Sean has found a team — a family — that truly cares for what is best for him," says Dorothy. "The Trisomy 21 team has helped Sean get around and over some roadblocks that may have hindered his progress. They were on top of all his medical issues, such as his hearing. Their recommendations for services really did help us to get those services for Sean."

Serving the patient with Down syndrome — and his family

The Trisomy 21 Program is not only a program for a child or young adult with Down syndrome — it serves the family as a whole.

"As parents, my husband and I receive the emotional support that is needed at times when we don't even realize we need it," says Dorothy. "We have been encouraged and supported to fight for what Sean needs and what is in Sean's best interest." 

"Sometimes the fight gets hard and having the support helps you as a parent to keep fighting. The Trisomy 21 Program has been a wonderful resource in helping us find the answers to many of our questions."

For Sean, visits to the Trisomy 21 team are enjoyable. Sean has many friends at the Hospital with whom he feels comfortable when he visits.

Dorothy particularly remembers a time when Sean's audiologist promised him a soft pretzel if he finished a hearing test. As Dorothy set off to buy Sean a pretzel, his audiologist beat her to it. She walked with Sean to the pretzel cart and picked him a pretzel.

"The audiologist took time to keep her word to Sean and that really means a lot."

Originally posted: June 2009