Shwachman-Diamond Syndrome: Joyce’s Story

After spending time in the intensive care unit of a hospital in New Jersey, where no one could determine the reason for the blood sugar plunge, Joyce was transferred to Children's Hospital of Philadelphia (CHOP). She was first seen by a pediatric endocrinologist, who discovered that Joyce had an enlarged liver. At a subsequent exam, a gastroenterologist was the first to suspect Shwachman-Diamond syndrome, an inherited condition that affects many parts of the body, particularly the bone marrow, which produces new blood cells, and the pancreas, which plays an essential role in digestion.

A confirmed diagnosis

Joyce was referred to a hematologist, and she underwent genetic testing. The test came back positive for Shwachman-Diamond.

“Joyce was sick and hospitalized a lot as a baby,” says Jane. “Every fever meant a visit to the ER.” That’s because as her bone marrow would malfunction, it wouldn’t make enough neutrophils, the most common type of white blood cell. This shortage of white blood cells made her more vulnerable to infections. She would also experience more occasions of drops in her blood sugar levels because her pancreas doesn’t function correctly.

To deal with the pancreas problems, Joyce takes digestive enzymes, and as she has gotten older, “We can manage everything a lot easier,” says Jane. “Now that we know the protocol, it’s very easy for us to manage.”

An uncertain but hopeful future

Now 11, Joyce is independent, adventurous and full of energy. “People love Joyce, and she likes to do everything,” says Jane. For a summer educational program, “All her friends went to a college nearby in New Jersey. But Joyce said, ‘I want to go to Villanova. I want to go far from home.’ I feel like I can already say I’ve dropped my kid off at college!”

But how Joyce’s condition affects her in the long term remains unclear. Shwachman-Diamond syndrome can increase a person’s risk of several serious complications related to the malfunctioning bone marrow. “We don’t really know the prognosis for Shwachman,” says Jane. “There are not a lot of people who have it. We don’t know a lot of older people with Shwachman. Some will pass away in their 20s, but they’re all so different.”

If Joyce’s bone marrow problems evolve from malfunctioning to failure, a bone marrow transplant could be performed. It’s a wait-and-see situation, as Jane came to understand: “It took me a long time to wrap my head around this: If there’s something wrong with her marrow, why not replace it now? But you’re not going to take a kid living a relatively happy and healthy life and transplant them, because of the risks of transplant. You can live a perfectly happy, normal life. Only if she went into failure, then we’d get a transplant.”

A home away from home

For now, Joyce is monitored by her team at CHOP’s Pediatric Comprehensive Bone Marrow Failure Center. The center excels at coordinating the care of patients with complex disorders, who often have the need for highly specialized care by experts in several different specialties. In Joyce’s case, her team integrates care for her complex medical needs and provides continuity and guidance as she grows up.

For the family, CHOP has become like a second home. “My kids love the cafeteria,” Jane says with a laugh. “The ladies in the cafeteria remember my kids. When Joyce was a baby, CHOP was my home away from home, and I felt much more comfortable in the hospital than at home. I felt I was safe there and people were taking care of me.” From the warm personal interactions to the top-notch medical care Joyce has received, Jane can’t say enough good things about CHOP.

“When you’re there, you’re getting the best people from around the world.”