Anna Pak Poy’s son Sebby was diagnosed with an ultra-rare disease called Tay-Sachs when he was just seven months old.
“It’s like watching your child die in slow motion,” Ms Pak Poy said.
She said the condition, which has a life expectancy of about four years, causes someone to lose their movement, eyesight, hearing and ability to swallow.
“They get seizures. Often, they’ll aspirate [which] causes pneumonia and that’s what they’ll die from.”
When Sebby was diagnosed with the terminal condition, Ms Pak Poy moved to Australia from the United Kingdom seeking better treatment.
Even if [they] can get diagnosed, there are very few rare diseases that have effective treatments, because there’s no research, and access is difficult,” Ms Millis said.
She said the organisation started the Navigator Project to address common barriers for people with rare diseases and their families.
“[The project] allows us to provide a navigation service [and] collect data on where the gaps are,” she said.
It includes the RARE Helpline — a telehealth service that connects people with rare diseases to specialist nurses who can help answer a caller’s questions.
The helpline, which has been funded by a $2.4 million grant from the Department of Health, is being trailed in New South Wales and Western Australia in partnership with three rare diseases organisations.
The telehealth trial sites are expected to run for approximately three years from mid-2023.
RVA ambassador Lachy Beckett, 42, who was diagnosed with Juvenile Dermatomyositis (JDM) at the age of three, said the telehealth service was “fantastic”.
“You don’t have to leave the comfort of your own home,” Mr Beckett said.
“[There are] physical challenges people take for granted. Getting out the door sometimes is a massive hurdle.”
Government support ‘necessary’ for people and families
Mr Beckett’s rare condition commonly affects children and causes fatigue, mouth ulcers and skin rashes.
“I was tired and weak in the muscles, then I deteriorated to the point where I couldn’t walk,” Mr Beckett, from south-east New South Wales, said.
“I was in so much pain. I [couldn’t] do anything but sit in the one spot and scream in agony.”
As with Tay-Sachs, JDM has no cure.
Although the Navigator Project is bringing much needed support, Ms Pak Poy said she believed more could still be done.
“It’s absolutely necessary that [the government is] putting funding into projects like these,” Ms Pak Poy said.
