Jessica Lewsley’s annual follow-up appointment with her orthopedic surgeon Dr. Peter Waters is a fairly routine affair—x-rays and strength and function testing. Jessica was born with a birth defect to her left hand, which developed only a thumb and little finger. “Dr. Waters always shares little pearls of wisdom, and we all look forward to our visit every year,” says Jessica’s father Mike.
This year’s visit, however, was a bit different.
Mike pulled out his iPad and showed Waters a Jessica playing “Alouette” on the piano.
“It will move you to tears,” says Waters. “Rather than focusing on what is missing, Jessica and her family have been great about celebrating all that she can do. Their acceptance, love and support has had a major impact on her life.”
I’m a 20-year-old rising junior at Harvard University and I have inflammatory bowel disease (IBD).
Growing up in Orlando, Florida, I participated in typical childhood activities and was what you would consider to be a “normal” kid.
But I was dealing with chronic, excruciating abdominal pain, diarrhea and bloody stools. At age 10, doctors diagnosed me with Crohn’s disease.
I went from one hospital visit to another and was prescribed various pills, injections and infusions, all of which failed at some point.
During high school, I was embarrassed to discuss my disease. Very few of my teachers and friends knew I had Crohn’s. I was afraid I wouldn’t be able to manage school assignments, participate in athletics and still have a social life.
Finding out your child has congenital heart disease (CHD) can send you on an emotional roller coaster. “You can’t help but think, is this my fault? What did I do wrong?” says Jessica Nigrelli, whose daughter Avery was diagnosed with CHD when she was 16 months old.
When Avery was a baby, she had an on-again, off-again heart murmur that was checked every three months. When the murmur persisted at 16 months, her primary care doctor recommended she see a cardiologist from Boston Children’s Hospital. At the Heart Center’s outpatient clinic in Waltham, Dr. Susan Saleeb discovered Avery’s atrial septal defect (ASD). An ASD is a hole in the wall that separates the heart’s upper two chambers, the left and right atria.
The diagnosis shocked Jessica and spurred a great deal of anxiety. “Avery appeared healthy. Looking at her, you would never know anything was wrong,” Jessica says. The word ‘defect’ just sets off a million bells and alarms in your head. Processing that took some time.”
Monday through Saturday, Kyle Cooper wakes up at 5:40 in the morning to get to his construction job by 7:00. On his only day off, he shoots trap at the local sportsman’s club with his grandfather. Things that would bother a typical teen—a long commute, arduous work, little time off for friends—barely faze Kyle. This 18-year-old has the quiet confidence and patience of someone twice his age.
Kyle’s demeanor may be due in part to having had to wait a lifetime for something he wanted so badly. He was born with hemifacial microsomia (HFM), a craniofacial anomaly that resulted in the left side of his face being underdeveloped. The cause of HFM is not well understood. Until this past February, what HFM meant for Kyle was that his face was noticeably uneven and barely any of his teeth touched. “I made it through and got used to it, but I couldn’t eat things like meat because it would take me three hours to chew.”