An Interrupted Childhood: Living with a Rare Disease

“The doctor said she’s one in a million. I thought he was being sarcastic.”

In December 2014, Michelle was feeling a mix of emotions as she found out her six-year-old daughter, Avery, was diagnosed with a rare genetic disease called Homozygous Familial Hypercholesterolemia, or HoFH. Avery has cholesterol levels that are ten times the normal rate for a child her age. Most people with HoFH discover they have the disease after a heart attack or stroke.

At the time, there were only 400 others diagnosed in the US with the disease.

Avery undergoing her bi-weekly apheresis treatment while wearing her Starlight Gown at Nemours/Alfred I. Dupont Children’s Hospital.

A Parent’s Intuition

Michelle and her husband both suffer from high-cholesterol so they thought it would be best to have their kids tested. There were no signs or symptoms, just a parent’s intuition. They never imagined this outcome. Despite the diagnosis, they are hopeful that early treatment could prevent cardiovascular disease for Avery.

So, they began the journey of taking care of a child with an extremely rare disease.

For four years now, 10-year-old Avery has been going to Nemours/Alfred I. Dupont Children’s Hospital in Delaware every two weeks for a treatment called apheresis. The family lives nearly three hours away from the hospital so it requires quite a lot of planning. Then, as Avery arrives at the hospital, she gets hooked up to a massive machine as her blood is processed in a way that removes LDL or “bad cholesterol” and then it’s re-circulated into her body.

“She was the very first patient at Dupont to use the apheresis machine at the hospital. It was brand new to doctors and nurses and it was brand new to us,” Michelle said. “Avery had a lot of anxiety those first few years. But now she knows the drill. It runs pretty smoothly most of the time.”

This aggressive treatment is effective, but because Avery’s body is unable to naturally process the cholesterol, her levels rise quickly. That’s why she receives treatment so frequently.

Living an Active Childhood with a Rare Disease

Avery takes dance classes six days a week.

To the outside world, Avery looks completely healthy. She’s in the dance studio five to six days a week, she runs cross country and is a great student.

“That’s one of the difficulties that we go through. We have to explain what she goes through to people because she looks totally healthy,” Michelle said. “You kind of forget sometimes that she’s so sick.”

Michelle says Avery struggles when she has to miss out on school, holidays or dance classes – an inevitable outcome of her diagnosis.

Starlight Gowns Bring Color, Comfort and Privacy

A few months ago, when it was time for Avery’s treatment, a child life specialist gave her the option to wear a Starlight Gown or a regular gown. Avery was excited to see a soft and colorful gown.

Avery smiles big in her outer space Starlight Gown.

In addition to the playful design, Avery appreciates the extra privacy with the snaps on the sleeve that allow her to take just the shoulder of her gown off, rather than the full garment.

“It allows easy access to her port, and as she gets older she likes to be more covered up and that’s the most important thing in a gown for us,” Michelle said. “I also love that they’re so soft.”

Ultimately, Michelle loves the smiles it brings to her daughter.

“These are such hard times that she’s going through, if there’s anything that can put a smile on her face, I’m so thankful for it,” Michelle said. “We love the gowns.”

Bring Smiles to Hospitalized Kids

When a sick kid is hospitalized, there are few things that can make them happy and provide a moment of distraction. Donate a gown today and help deliver more smiles to seriously ill kids, just like Avery.

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Tara Millspaugh

Digital Media Manager

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