Lily Rare Care Centre

Lily’s Story

Lily’s Story

Lily is a happy, confident 12-year-old who is now enjoying a more regular childhood. It hasn’t always been this way. Lily was born with Trichohepatoenteric syndrome, a condition so rare that it only occurs in one person in a million.

The extremely rare syndrome affects the hair, liver and intestines. Born prematurely at 34 weeks, Lily was a tiny baby and had problems feeding and with many of her organs. Slow growth persisted and for the first few years Lily had to be tube-fed. She suffered countless infections and sore tummies, but doctors never knew why, despite relentless testing.

It took years and hundreds of hospital visits to reach a diagnosis. Lily was the first diagnosis made by WA’s undiagnosed disease program. At age seven Lily and her family finally had some answers. While there is no cure for Lily’s condition, getting a diagnosis meant Lily no longer had to endure invasive tests and procedures to determine why she kept falling sick. 

Doctors are now able to better monitor Lily’s health, reducing the number of hospitalisations and improving her quality of life. “I thank my lucky stars,” said mum Dorota. “I’ve still got a lot of friends whose children don’t have a diagnosis or are misdiagnosed a lot.”

In WA, there are 63,000 children living with a rare disease like Lily. Rare diseases place an immeasurable burden on families. Some children wait years for a diagnosis – the average is five, and 50% are misdiagnosed, often more than once. 

It is a lonely and stressful journey, but research can give parents some answers.

With your support we can give these children a better quality of life and relieve the immense toll on families. Make a tax-deductible donation to Perth Children’s Hospital Foundation by June 30 to fund life-changing research and care

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