By the time Tracy and Jeremy’s oldest child, Andrew, turned 10, he had been experiencing multiple issues that seemed unrelated. He was diagnosed with a digestive problem called gastroparesis, had vision tracking problems, and sometimes complained of muscle and joint pain. A competitive swimmer, more than once he broke a finger when his hand hit the pool wall. Then a comment from a work colleague who had specialized knowledge started the family on a medical journey that involved not only Andrew but his two siblings and Tracy, too.
Jeremy works in the pharmaceutical industry and shared space with a former rheumatologist, who one day heard Jeremy talking about Andrew’s symptoms. “She said to him, ‘I think he has EDS,’” Tracy says with amazement about the encounter. Indeed, at Children's Hospital of Philadelphia (CHOP), Andrew was diagnosed with hypermobile Ehlers-Danlos syndrome, a connective tissue disorder that is caused by defects in a protein called collagen.
Hypermobile EDS is characterized by joint hypermobility, meaning the joints move beyond the normal range. Patients usually bruise easily and have chronic musculoskeletal pain. While this diagnosis explained what Andrew had been going through, there was another aspect of the disorder that impacted the family: it is inherited from a parent.
After Andrew’s diagnosis, his sister Alexa, then in first grade, and 1-year-old brother Spencer headed to CHOP for genetic evaluation. Tracy herself — who had been experiencing chronic pain since her teenage years — went to Penn Medicine. The results? The three of them also had hypermobile EDS.
‘Teach you the normal range of motion’
Hypermobile EDS affects each person differently, and the siblings can attest to that. All of them received physical therapy and occupational therapy at CHOP’s Connective Tissue Clinic at the Specialty Care Center, Princeton at Plainsboro — conveniently located in the family’s hometown. The clinic’s therapists are specially trained for conditions such as hypermobility. “Regular physical therapy focuses on things like stretching,” explains Tracy. “But for EDS, loosening muscles actually creates problems. The Connective Tissue Clinic’s therapists address strength around joints, developing the strength to use joints properly. They’ll teach you where the normal range of motion is, so the kids understand not to go beyond that.” Tracy uses herself as an example: When she stands up, she has learned to keep her knees slightly bent, not locked, and her feet facing forward.
Andrew went through several rounds of physical therapy, was given a home exercise program. and was fitted for orthotics for his feet. Occupational therapist Roberta Ciocco, MS, OTR/L, helped him work on his arm strength and gave tips for grip without stressing joints. Now 16 and physically stronger, he’s largely pain-free.
When Alexa was diagnosed, she wasn’t experiencing pain, but now that she’s 12 and reaching puberty, pain is an increasing issue. She continues home exercises and strength training. During one of her yearly visits to the Connective Tissue Clinic, Jennifer Penston, MS, PT, PCS, c/NDT, the physical therapist who has been treating the siblings, noticed that Alexa had developed scoliosis, so she is now being monitored more frequently.
Weekly therapy beginning at age 2
Baby Spencer had not been hitting his first-year growth milestones, such as sitting up. Therapy helped him learn to sit up and walk, but he had severe infantile scoliosis, requiring casting until he was 4, and then bracing. “He’s probably the worst of the crew,” says Tracy. “He has a lot of loose joints. His hips are so loose, his foot can completely turn horizontal. He doesn’t understand his body moving through space. Maybe the casting exacerbated this.” Spencer needed weekly physical therapy from when he was 2 until he was 6, and he also received occupational therapy. Now 7 years old, he’s getting better at keeping up with the activity level of his peers.
As for Tracy herself, “I didn’t know what was going on with me until my late 30s, and by then a lot of damage was done – I’m riddled with arthritis, I have cartilage damage and chronic pain.”
She is optimistic that the Connective Tissue Clinic can help her children avoid her fate. “These kids are told, ‘You can’t do gymnastics, you can’t do contact sports.’ They hear a lot of ‘no,’ and that’s hard for a kid. The clinic helps them do what they want to do. Alexa did gymnastics. The clinic teaches them how to do things safely, and what she shouldn’t do. They even helped coach the coaches to understand the ways she shouldn’t extend her body.” There will always be certain activities that a person with EDS truly should avoid — activities like track that use the same joints over and over — but the siblings’ lives are not ruled by “no.”
The therapists at the Connective Tissue Clinic have been crucial partners for the family. Says, Tracy, “They keep the kids doing the things they love without getting injured.”