Published on in CHOP Family News
By Mitch Appleson
You would think that because my job is to oversee clinical research at the Perelman School of Medicine at the University of Pennsylvania, when doctors at Children’s Hospital asked if our 9-year-old son Elisha would be interested in participating in a research study that included an MRI, I would have jumped on it.
But I hesitated, thinking of the logistics. Elisha has frequent appointments at CHOP to treat his Crohn’s disease. Our daughters, 4-year-old Talia and 2-year-old Arianna, are at CHOP every week for physical therapy as treatment for Ehlers-Danlos syndrome. My thought: How do we fit another appointment into our hectic schedule?
Elisha didn’t miss a beat, however. “Of course I want to participate,” he said immediately. “If I can help someone else, I want to do it.”
Wise words. He had already participated in three studies related to inflammatory bowel diseases. For those, tissue samples or a blood draw were done while he was already at CHOP. This new study meant we’d be making an extra trip. But given his can-do attitude, I knew we’d make it happen.
I see participating in research as an extension of the partnership that already exists between families and CHOP.
The doctors and nurses at CHOP have always shown a high level of interest in what my wife, Ilana, and I see and think. Any time one of our kids is inpatient, we are encouraged to participate in daily rounds, when the medical team goes from room to room accessing each patient’s progress and updating the treatment plan. During outpatient appointments, doctors ask about our observations and value our opinions.
Research is a way we can give back to show our appreciation for the care our children have received from CHOP.
When Talia didn’t hit gross motor skill milestones on schedule, we weren’t too worried. But when she crawled using the back of her hands, not the palms, our pediatrician referred her to CHOP.
Dr. Paige Kaplan, a geneticist who has since retired, quickly diagnosed Talia at 13 months of age with Ehlers-Danlos syndrome, a connective tissue disorder that leads to loose joints and weakened muscles. There is no medication or cure; instead, doctors and therapists manage the symptoms. Talia’s earlier digestive, swallowing and cardiac concerns are under control now. Arianna, who is less severely affected, was diagnosed at 7 months, after she showed the same signs we saw in Talia. Both girls wear leg braces and have physical and occupational therapy three or four times a week to build strength.
Getting a diagnosis was more difficult for Elisha. He stopped gaining weight between ages 7 and 8. First Dr. Barbara Rolnick, CHOP Care, Roxborough, tried giving him high-calorie supplements for six months. When that didn’t help, she referred Elisha to GI. By 8 1/2, he had started losing weight and became lethargic. Our normally very active kid was taking a nap after school! He was admitted to CHOP in January.
Classic symptoms missing
For two weeks, they ran tests, trying to figure out what was wrong. Diagnosis was tricky because he didn’t have classic symptoms of Crohn’s, like gut pain, diarrhea or bloody stools. They finally found narrowing in his intestines, due to scarring from Crohn’s inflammation. He had surgery to remove part of his small intestine and had a G-tube placed. When the disease returned three months later, doctors started him on Humira®, an injection he takes every two weeks to manage symptoms. He’s back to running around like usual.
His experiences at CHOP clearly sparked his interest in research and have elevated our entire family’s willingness to take part. If CHOP begins Ehlers-Danlos syndrome research, we’d be happy to participate to help find answers and, eventually, a cure.