For most of her life, Andie’s family didn’t know why the left side of her body was larger than her right and why she had facial and dental abnormalities, along with vision and hearing impairment.
It was through global collaboration that doctors finally received the diagnosis of an extremely rare condition, RHOA related mosaic ectodermal dysplasia.
In Andie’s case, test after test failed to shed any light. At one point, her compassionate, good-humoured doctors declared the condition ‘Andie syndrome’! But the doctors never gave up and, finally, the breakthrough came just before Andie turned 11 years old.
Andie has spent more time visiting hospital than most other kids. There have been endless medical and therapy appointments, corrective surgery and relentless testing to identify Andie’s rare disease.
For families, it is a journey that is often lonely, stressful and filled with uncertainty. Many children wait years for a diagnosis and parents wonder if they will ever get one.
Andie’s condition is extremely rare, but she is not alone.
More than 63,000 West Australian children are living with a rare disease, and they need your support. 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.