A Rare Diagnosis Reveals Universal Needs

A Rare Diagnosis Reveals Universal Needs

One patient's story highlights the need for community, awareness and Medicaid.

In 2012, during the 20-week anatomy scan, doctors were concerned about signs of abnormalities in Paisley Alexander’s development. When she was born with a cleft palate, the NICU doctors at the local hospital diagnosed her with a common form of dwarfism.

As Paisley grew up, there were some inconsistencies in her diagnoses. Paisley’s mother, Stacy Alexander, took her to Nemours Children’s Hospital, Delaware. “It was a gut feeling that everything wasn’t adding up,” Alexander says. After one visit, the doctors diagnosed Paisley with a specific form of dwarfism known as Schwartz-Jampel syndrome, a rare condition characterized by permanent muscle stiffness and bone abnormalities. “After her diagnosis, there was mostly a fear of the unknown due to the rarity of her condition,” says Alexander. “There have been less than 100 cases of Schwartz-Jampel syndrome ever reported. None of her doctors have even heard of it.”

However, in this rare disease, Paisley and her mother found connections with others. There are a few other children in the U.S. with Schwartz-Jampel, and Stacy has stayed in touch with their parents. “It’s nice to know other people who are going through the same thing,” she says. “We don’t have resources since there’s not much known about it, but we’re able to offer support and share information with each another.”

It’s nice to know other people who are going through the same thing ... we’re able to offer support and share information with each another.

As she’s grown up, Paisley has faced recurring respiratory illnesses, often for days or weeks at a time, as well as other health challenges. She was on oxygen for three years, uses a CPAP machine while sleeping, receives ongoing treatments for breathing and oxygen saturation and occasionally requires hospital stays at Le Bonheur Children’s Hospital in Memphis, Tennessee.

After tough, extended hospital stays, Alexander realized the importance of community and advocacy. “There were times we were so worried about Paisley, we couldn’t even leave the hospital to go eat,” she says. “We relied on donations and support from our community to get through it all.”

Now, giving back is a priority for the Alexander family. “Everything helps,” Alexander says. “From individuals and businesses reaching out to support and donate, to fundraising and advocating for children’s health needs—it is all absolutely necessary for every part of care at the hospital.” In June, as part of their advocacy efforts, Paisley and her mom met with their members of Congress during the 2022 Children’s Hospital Association’s Speak Now for Kids’ Family Advocacy Day.

The event features roughly 50 patient families from children’s hospitals across the country that come together and connect with federal lawmakers to highlight the importance of the care children’s hospitals provide. During the event, Paisley and her mom talked with representatives from Mississippi to share their family’s story, highlight priorities essential to children’s health and emphasize the importance of Medicaid in Paisley’s care. With most of Paisley’s care covered by Medicaid, the program is essential for her continued health and well-being. “When you’re in the hardest parts, you don’t think about it, but it was absolutely traumatizing,” says Stacy. “Now that Paisley is bigger and better, it’s important that we tell our story and give back.”

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Written By:
Grant Heiman
Writer/Editor, Children's Hospital Association

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