Earlier access to genomic tests key to diagnosing rare diseases in kids & teens

VIVA! Communications

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.

If you are caring for a child or teen with an undiagnosed or rare genetic condition with no active support group, contact SWAN at 0404 280 441 orswanaus.org.au.

If you are living with, or affected by a rare genetic condition, and require information and support, contact GAA on (02) 9295 8359 or geneticalliance.org.au

About rare diseases

A disease is considered rare if it affects less than one in 2,000 people at any given time.11 Although a single rare disease may affect less than 0.05 per cent of the population,collectively, rare diseases affect 300 million people worldwide,12,13and an estimated eight per cent of Australians, similar to the prevalence of diabetes or asthma.14

About Rare Disease Day 2020

Rare Disease Day (RDD) is a global initiative which aims to raise community awareness of rare diseases, their impact on patient lives, and to encourage researchers and decision makers to address the needs of those affected. Rare Disease Day is held on the last day of February, and this year falls on February 29, a very rare day, given it is a leap year.

About Genetic Alliance Australia (GAA)

Genetic Alliance Australia (GAA) is a peak group for rare genetic diseases representing 1,400 diseases and more than 3,500 individuals and families affected by genetic conditions or diseases.

GAA facilitates contact between individuals and families affected by the same, or similar disease, and provides information about relevant local and international support groups.

About Syndromes Without a Name (SWAN) Australia

Syndromes Without a Name (SWAN) Australia provides information and support to families caring for a child with an undiagnosed or rare genetic condition, through the provision of information and peer support. SWAN advocates for free and equitable access to genetic and genomic testing, decreased testing turn-around times, more funding for rare disease research and better support and resources to ensure more children obtain a diagnosis and the care that they require.


Issued by VIVA! Communications on behalf of Genetic Alliance Australia (GAA) and Syndromes Without A Name (SWAN) Australia.

/Public Release.