Updated
Tabitha Ellam owes her life to a cord blood donor in Japan and a stubborn doctor in Sydney.
The 17-year-old was diagnosed with the rare genetic disease mucopolysaccharidosis (MPS1) — also known as Hurler Syndrome — just before she turned two, after suffering hydrocephalus — or fluid on the brain.
Her mother, Sonia Ellam, said many doctors at the time “wrote off those sort of children” and told her there was “no point in helping them”.
But Tabitha’s doctor in Sydney refused to give up.
“She stuck her foot down and went ahead with the transplant,” Ms Ellam said.
Tabitha’s illness means the Canberra high school student has always had a short stature, a larger head, eye problems and soft bones.
But Tabitha said she knew she was lucky to be alive.
Many of the approximately one in 88,000 people born with the genetic condition died before their 10th birthday.
“If I didn’t have the cord blood transplant, I wouldn’t be here,” she said.
“Just to have the opportunity to have a second chance at life, I’m just smashing it every single day.”
Along with a second chance, the transplant also gave Tabitha a second birthday.
“Every year we call it my rebirth day,” she said.
“It’s just a re-do and we’re like ‘right I’m going to grow up like every other kid, maybe a little bit different to everybody else, but I’m going to live a normal life’.”
At least 6,000 rare diseases recognised
Tabitha is one of up to $2 million Australians suffering from rare diseases.
And the at least 6,000 different conditions could make it extremely difficult for doctors to diagnose.
Ms Ellam said her daughter’s illness could have been caught far sooner.
“They said she was fine, but her neck always seemed shorter, she just didn’t seem right,” she said.
“She couldn’t craw, she couldn’t get up from a sitting position by herself.”
Despite having a large head, it was not until Ms Ellam took her daughter for immunisations at nine months old that anyone realised Tabitha may not be growing normally.
It took another year before the family got the diagnosis.
Short in stature, large in personality
Hurler Syndrome was not the only obstacle Tabitha has had to overcome.
She was bullied for several years at school, including by girls who stole her lunch money.
“I always stood out so that was basically an easy target for people to bully me,” she said.
But the vivacious teenager said the “thick skin” imparted on her by her brother and sister, who did not suffer from the disease, helped her take a stand.
“One day I woke up and I just stomped my foot and I said ‘that’s enough’, and I started fighting back,” she said.
“They would be so shocked because I wasn’t just sitting down in a ball, wondering why all these bad things were happening to me.”
Tabitha is an avid dancer and photographer and loves to play musical instruments.
She said her bent fingers, a symptom of her disease, actually helped with guitar progressions and her poor eyesight had not held her back.
“Even though I’ve had cornea transplants in both eyes, I take what my mum says are ‘incredible photos for someone who has such crappy eyes’.”
Her mother said despite the delayed diagnosis Tabitha was “exceptional”.
“Where she’s at is fantastic, but it could have been done earlier,” she said.
Frustrating not knowing what is wrong
It takes, on average, five years for sufferers of rare diseases to be diagnosed.
Mother of two Samantha Lenik, 44, spent seven years trying to work out why she would often fall over while running and could not keep up during regular exercise at the gym.
Despite going to the gym everyday, one physiotherapist told her she had the “muscle tone of a 60-year-old lady”.
Ms Lenik said learning she had Pompe disease, which impacted just 30 Australians, was both devastating and “a moment of clarity”.
“It was an uh-huh moment,” she said.
“It went on for years of me complaining of back pain and leg pain and going to doctors and seeing physios and no one could ever really pinpoint anything in particular.
“It is really frustrating.”
The disease causes progressive muscle weakness and, if not treated, can lead to respiratory failure.
Ms Lenik now travelled from Canberra to Adelaide each fortnight to take part in a clinical trial to treat the disease.
Genetic testing and awareness of ‘red flags’
Geneticist Professor Jack Goldblatt said it was difficult for GPs to diagnose rare diseases because they were often not aware of the complex symptoms.
“For some of those conditions there would only be a handful of patients in Australia that are affected, so most GPs would have never seen a patient, they would have briefly heard about it in medical school,” he said.
“Sometimes even rare diseases can have common symptoms, so they’ll be misdiagnosed.”
About 30 per cent of sufferers died before the age of five.
Professor Goldblatt said early diagnosis was the key to preventing irreversible damage and even death.
He hoped advancements in genetic testing would provide the solution.
“The way of the future — already upon us in certain areas — are things like newborn screening,” he said.
“The range of conditions you can test for like that is increasing all the time.
“There’s always the potential in the future that you’ll be able to diagnose conditions even before the person presents with features of it.”
For now, he said the most effective tool to battle rare diseases was to raise awareness of red flags for GPs so they could refer patients to specialists.