Uncovering Refsum: A Rare Disease That’s Easy to Miss
11 Sep 2025
It took 40 years for her to be diagnosed with Refsum disease. Now she wants GPs to spot it sooner.
For 51 years, Sharon Burstin lived with a disease she didn’t know she had, as it gradually damaged her health. Now 54, she is legally blind, has hearing loss, severe osteoarthritis, and other complications, all caused by Refsum disease, a rare metabolic disorder she was finally diagnosed with in 2022.
Sharon describes her diagnosis as life-changing, and she is now urging general practitioners (GPs) to recognise the condition early. She explains that a simple blood test for phytanic acid levels can detect Refsum disease, which can then be managed with diet and lifestyle interventions to slow its progression.
Refsum disease is caused by faulty genes that prevent the body from breaking down phytanic acid, a compound found in foods such as dairy, red meat, fatty fish, and some vegetables. If left untreated, phytanic acid builds up in the body, causing symptoms including retinitis pigmentosa (RP), hearing loss, anosmia, polyneuropathy, heart problems, and skeletal abnormalities.
Sharon’s symptoms appeared early, including skeletal dysplasia at birth, but her condition went undiagnosed for decades. She visited numerous specialists for vision, hearing, and joint problems, yet no one connected the dots. Her diagnosis only came after participating in the VENTURE study at the Centre for Eye Research Australia, followed by genetic testing and referral to a metabolic specialist.
Reflecting on her journey, Sharon says:
“If only I had had that blood test when I was first diagnosed with RP, my whole life trajectory would have been completely different. Awareness can make a real difference.”
Her GP, Dr Vicki Kotsirilos, highlights that RP should act as a red flag for Refsum disease, which can be confirmed with a simple blood test. She encourages GPs to consider the condition in patients with RP or multiple unexplained symptoms.
Sharon is now focused on raising awareness of Refsum disease both in Australia and internationally, including hosting a webinar with the US-based DARE Foundation (Defeat Adult Refsum Everywhere). She hopes her story will help GPs identify the condition earlier and improve patient outcomes.
“Awareness will raise the chance of diagnosis exponentially and ensure people get the life they deserve,” Sharon said.
(Source: newsGP, Centre for Eye Research Australia, DARE Foundation)
