Affecting one in 57,000 newborns, Gaucher disease is a rare condition that affects the body’s organs and tissues, causing them to swell.
Eight-year-old, Lexi Tinning is one of the few who are living with the disease and receiving treatment at Peninsula Health.
Lexi was diagnosed at age two while living in the little town of Tongala, just outside of Echuca, and soon moved to Melbourne with her family, where she has been on medicine ever since.
“[Lexi] is missing an enzyme in her body,” says mother Nicole. “If she doesn’t have it, she looks like she’s swallowed a watermelon because it affects her liver and her spleen.”
Initially receiving infusions of enzyme replacement therapy at the Royal Children’s Hospital, Lexi is now a fortnightly patient on our paediatric ward, where Peninsula Health nurses assist with the ongoing treatment of the disease.
“Despite the medicine, nothing has changed. She’s just a normal, normal girl.”
“She’s amazing,” Nicole goes on to say. “She’s a smart, happy kid, who doesn’t let her disease stop her from doing anything.”
Lexi has even gone to great lengths to advocate for the rare disease, publishing a book titled ‘Lexi’s Brave Bunny’. The book explains what Gaucher disease is, the treatment process, and other interesting details about the condition, all from Lexi’s point of view.
“We’re still learning about it all,” says Nicole. “This was the first we’d ever heard about the disease, we had no family history. It’s been a learning curve for all.”
“The care at Peninsula Health has been amazing. I can’t fault it. You know, if we have to change an appointment, they’re so easy to work with.”
While there’s no cure for Gaucher disease, a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life.
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