Earlier access to genomic tests key to diagnosing rare diseases in kids & teens
A movie star, doctors, advocacy groups and patients are joining forces today to urge healthcare professionals, hospitals and policy makers to prioritise the diagnosis of kids and teens with suspected rare diseases, through improved access to genomic testing.
L.A.-based star of the Golden Globe-winning The Greatest Showman, living with a rare genetic disease, Sam Humphrey, 25, is issuing a personal plea today, ahead of Rare Disease Day (February 29, 2020), “for improved access to genetic services, to help minimise the long, diagnostic journey unnecessarily endured by so many.”
His call is coinciding with an article just published in MJA Insight, highlighting the impact of the genomics-driven revolution in the rare disease arena.
According to MJA Insight article co-author and Deputy Clinical Director, Victorian Clinical Genetics Service (VCGS), Associate Professor Sue White, Melbourne, genomic testing enables a diagnosis in up to one-in-two patients with a suspected rare genetic disease.1,2
“Rare diseases are complex disorders, which are often progressive, can be life-threatening and are almost always incurable.1,2 Up to 80 per cent of rare diseases are genetic,370 per cent of which start in childhood.4Tragically, up to 30 per cent of those with a rare disease will die before the age of five.5
“It can take between five to 10 years from presentation of symptoms, to diagnose a rare disease. During this period, on average, patients see more than seven doctors before an accurate diagnosis is made,”1,2 said A/Prof White.
“Receiving a diagnosis can save the lives of critically ill children, with up to two in three acutely unwell children receiving a change in disease management following a genetically confirmed diagnosis.6
“Importantly, ongoing advances in genetic testing and our increased understanding of the human genome are resulting in more precise and accurate diagnoses of rare diseases.”7
Having spent the first six weeks of his life in an incubator, it wasn’t until Sam was three years of age that he was diagnosed with the rare genetic disease, acrodysplasia, which causes delayed development and difficulty breathing.
“When I was in high school, I learned that my doctors didn’t foresee me living past the age of 18. I put on a brave face, but underneath, I felt hopeless, lost and insecure. I questioned whether my life was worth living.
“Now, however, at the age of 25, having acted alongside my childhood hero, Hugh Jackman, in
The Greatest Showman, I am a passionate advocate for those living with rare diseases and disabilities,” Sam said.
One in 12 Australians are living with any one of the 6,000 to 8,000 known rare diseases, with new diseases identified each week.8,9
“Genomic testing can often prevent the need for invasive and expensive investigations, such as muscle biopsy and lumbar puncture,”10 said Executive Director, Genetic Alliance Australia, Jan Mumford, Sydney.
“Genetic services are now arming patients and their families with the opportunity to secure an early diagnosis, access to emerging clinical trials, information to influence reproductive choice, and ensuring appropriate disease management.”
According to Eddy, 43, Sydney, whose 13-year-old daughter, Shannae, is living with the rare genetic disease, Mucopolysaccharidosis (MPS) type 1, receiving a diagnosis enable his daughter to access life-changing treatment.
“We first noticed something wasn’t quite right when Shannae was six months old. However, despite numerous tests and specialist appointments, we were repeatedly told there was nothing wrong with her.
“We were desperate for answers, so we persisted. It wasn’t until Shannae was referred for genetic testing by a rheumatologist four years later, that we finally received a diagnosis of MPS 1,” said Eddy.
“Being armed with that diagnosis meant Shannae was able to access the Federal Government’s Life Saving Drugs Program (LSDP). Initially there was a fear of the unknown; not knowing what the future will hold for our child. But, we now have hope that Shannae will live a healthy, normal life.”
Shannae, a keen ice skater and rare disease advocate, wants the public to know that people with rare diseases are no different to anyone else.
“There are so many of us [affected by rare diseases] and we can still fit seamlessly into society.
Even though we may look and do things differently on the outside, we’re still normal people on the inside.”
Chief Executive Officer and Founder of Syndromes Without a Name (SWAN) Australia, Heather Renton, Melbourne, said “Individuals and families affected by rare diseases often need to ‘reframe’ their lives, whether making a shift in career path, assuming a carer role, or relocating to secure better access to treatment and/or management.
“Receiving a diagnosis can link patients, their families and carers with other similarly affected families, provide a sense of community, and importantly, help them navigate support systems, such as the National Disability Insurance Scheme (NDIS).”
Genetic services can include the testing, diagnosis, management and counselling of those living with a rare disease.
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