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It might surprise you to learn that about one in twenty people you’ll meet has a rare disease. While each disease in this group is statistically rare – affecting less than 1 in 2,000 people – there are around 1.2 million Australians living with one of them. Around 400,000 of these are children. On February 29, Rare Disease Day highlights the people living with a rare disease and the challenges they face.
The Sterbal’s story
When Nicholas Sterbal was born just over two years ago, labour and delivery went well. However, Nick was floppy and had trouble feeding, and was moved overnight to the neonatal intensive care unit at Nepean Hospital.
Nick’s condition initially baffled doctors, his father Michael explains. “Over the next four or five weeks, they did every test they could. They scanned his heart, his brain, his internal organs – but everything came back normal,” he says.
“At around the five-week mark, a geneticist came and said they were going to do some testing just to rule out something with the chromosomes. At seven weeks we were given the diagnosis.”
Nicholas has Prader-Willi Syndrome, a genetic disorder affecting development and growth. It’s estimated one in 10,000 to 20,000 children have the condition, which has characteristics including short stature, intellectual disability and an excessive appetite, which can lead to obesity if not properly managed.
Michael says they’d never heard of the condition, and getting the diagnosis was “absolutely terrifying”. He believes it would have been different to be told Nicholas had a more common condition. “Everyone has heard of [conditions like] Down syndrome,” he says, “whereas Prader Willi syndrome people say ‘oh, what’s that?’ It’s harder to understand.”
The diagnosis can be overwhelming
Michael and his wife, who also have a five-year-old daughter, were so overwhelmed, they didn’t tell anyone but his wife’s parents for six months. “We were trying to get through it and understand it,” Michael says. “Not knowing how to approach it, having that discussion with people was incredibly hard.”
The Sterbals’ experience was eye-opening. “In the hospital, we got the Centrelink documentation to receive help for a child with disability. There were pages and pages with tick the box of the syndrome,” Michael says. “It opens your mind to how many things can go wrong, therefore how many different [rare diseases] are out there.”
Like all rare diseases, Prader Willi syndrome has no cure, but treatment with a multi-disciplinary team of healthcare professionals – like our team at Growing Early Minds – leads to improved quality of life.
Early intervention for better outcomes
With early intervention, including occupational therapy and dietetics with Growing Early Minds therapists, Nicholas has made steady progress. This makes his condition easier to talk about, says Michael, who stays at home to care for Nicholas and works casually as a lighting technician. “We can see the light at the end of the tunnel. At two, we’re starting to get an idea of what his life will be like.”
Occupational Therapist Driscilla says she doesn’t often see children with rare diseases but finds working with them rewarding. “It definitely makes therapy much more unique and individualised for those children,” she says.
Children with rare diseases face challenges apart from those associated with their condition, such as discrimination or being likened to children with better-known conditions, Driscilla says. “Despite having similarities in difficulties and delays in their development, children with rare diseases should be understood as individuals,” she notes.
Driscilla adds that rare diseases continue throughout life and have a disabling impact not only on the individual, but their families, carers, health professionals and the wider community. “Knowing the impact is greater than the individual, rare diseases should be acknowledged far more than they are.”
What is a rare disease?
Around 5,000 to 8,000 diseases are classified as rare, and most are genetic in origin. Rare diseases are conditions which are:
- life-threatening or chronically debilitating
- statistically rare, and
- complex, meaning special combined efforts are needed to address them.
Rare diseases can’t be prevented and come in numerous forms, including some cancers, auto-immune diseases, metabolic conditions and inherited malformations.
Living with a rare disease
People living with a rare disease, and their families and/or carers, often need access to a range of services such as clinical specialists, disability support, information and social support.
Many people find it helpful to join a support organisation where they can receive information and share experiences with people in similar circumstances. The Sterbals have found it helpful to join Prader Willi Syndrome Australia and PWS and NDIS Facebook groups.
Rare disease testing
Most rare diseases are diagnosed later in life. If your doctor thinks you or your child might have a rare disease, they might refer you for a genetic test and/or genetic counselling.
A few rare diseases are found shortly after birth with the newborn baby screening test. When diagnosed early, most of the conditions can be treated, which helps to prevent mental and physical disability and death.
At Growing Early Minds, we provide early intervention services tailored to your needs. Our experienced team of therapists are dedicated to providing high-quality and culturally appropriate care for every family.
To find out more or book an appointment, give us a call on 1800 436 436 or email firstname.lastname@example.org
Find out more about Rare Disease Day here.