When Tammie Rees tells people her daughter Ava has maple syrup urine disease, most people, not even medical professionals, have heard of it before.
The rare metabolic disorder is caused by a defect in the enzymes that break down amino acids which come from protein. Without treatment, the urine smells very sweet, like maple syrup. If the harmful build-up of the amino acids build up in the blood, it can cause brain damage.
Ava, six, has to follow a dairy-free, vegetarian and gluten-free diet, as well as taking a supplement and undergoing weekly blood tests. “She’s very good with the blood tests because she’s been getting them since before she was aware,” Rees says. “But the diet we have tantrums suddenly over, ‘Why can’t I be like them? I hate having MSUD!’
“Birthday parties are the hardest. There will be a Freddo frog in a pass the parcel and she’ll open it and look at me and have that sad face.”
It’s estimated more than 2 million Australians are living with a rare disease, according to Nicole Millis, the chief executive of the national peak body representing them, Rare Voices Australia. “Even though individually all the diseases are rare, when you put them all together it’s more than the amount of people that are living with diabetes.”
There are an estimated 7,000 different diseases that are rare, but they share similarities in that they are all complex, serious and affect different parts of the body. That means people with rare diseases often have to see several specialists before they get an explanation, Millis says.
Diagnosis is very challenging, and even when people are able to get a diagnosis, treatment can be difficult to access. It is often unclear which clinic or healthcare specialist a person should go to or what the best care guidelines are.
However, Australians diagnosed with a rare or complex health condition are now able to call a dedicated helpline, which will make it easier for them to find clear and reliable information, resources and services.
The helpline is staffed by a team of dedicated personnel from Rare Voices Australia (RVA) with qualifications in psychology, social work and mental health first aid. It has been established with a $2.5m grant from the Albanese government as part of an election commitment.
The health minister, Mark Butler, says: “Life can be difficult enough for people with a rare condition. Navigating the health system shouldn’t be an additional burden they have to bear.
“We know many patients, their carers and families find it difficult to manage these rare and complex conditions and this can affect their mental health and make them reluctant to engage with the health system.”
Renae Wood was born missing skin on her feet, the front of her legs and the inside of her arms. She had to be wrapped in plastic because of her genetic condition called epidermolysis bullosa.
She says it’s an “interesting experience having a doctor Google the condition that you have”.
“During these first few months, my skin would blister or lift with the slightest touch,” Wood says. “This is why people living with EB are commonly referred to as ‘butterfly children’ as their skin is as fragile as butterflies’ wings.”
From a young age Wood remembers having to explain to doctors how the condition affects her. “I always felt like I was kind of educating them.”
The helpline will be a great tool, she says. “When you’re living with a rare disease, there’s quite a few doctors who don’t know where to send you and don’t have the resources at their fingertips,” she says.
Millis says more than half of those who have contacted the helpline so far have done so because there isn’t a specific support group for their disease.
The kind of support, information and service navigation provided by the helpline has traditionally been provided by established specific disease support groups. “But what has become really clear to us is that obviously there was a whole lot of people that because there is no support for their condition, are really falling through the cracks,” she says.
The helpline has also fielded calls from people asking about any clinical trials under way for their condition because often those are the only way for them to access treatment.
The Rare Awareness Rare Education helpline can be accessed by calling 0499 549 629 or by visiting rareportal.org.au/rare-helpline/
