Larissa Ferns, 33, first started to experience painful swelling as a child - the result of a rare and life-threatening blood disorder that doctors would misdiagnose for years.
She first felt her skirt tightening at school, but the disease would later cause sporadic enlargement across her body, from the tissues deep within her face to her internal organs.
Watch the video above to see the new test detecting three other rare genetic disorders
For more Health & Wellbeing related news and videos check out Health & Wellbeing >>
Ferns was 12 years old when she experienced her first attack.
“I felt sick, and then my stomach just got bigger and bigger, and then I started vomiting,” she recalled.
It took an hour in the ambulance to get to the hospital from Gore, the small New Zealand town where she grew up.
She arrived at the hospital, was pumped with painkillers, and eventually sent on her way - a process that would soon become routine.
A consistent diagnosis of hereditary angioedema (HAE) was still nearly a decade away for her.
“It was such a small town. It was kind of like ‘oh, you just take this and go’,” Ferns said.
“There wasn’t really any medication, like throughout my life.”
HAE is a rare inherited blood disorder and has been classified as a primary immunodeficiency (PID).
It works by accumulating fluid outside of blood vessels due to low levels of a complex protein, C1 Inhibitor, in the blood.
This blocks blood flow and lymphatic fluid causing tissues in the body to swell rapidly, and internal circulation to be cut off.
It can affect the hands, feet and face, and more dangerously cause swelling in the airways, stomach, and intestines.
It occurs in about 1 in 10,000 to 1 in 50,000 people, and experts are calling for equitable access to life-changing treatment.
Chair of the HAE Working Party for the Australasian Society of Clinical Immunology and Allergy Professor Connie Katelaris said: “All Australian patients should have access to state-of-the-art treatment.
“We now have a great understanding of the biochemical pathways that lead to the swelling and a number of drugs have been developed.”
An inherited pain
HAE is a genetic disorder, and children of a parent diagnosed with it are 50 per cent likely to inherit it - although spontaneous gene mutation at conception results in 20 per cent of cases.
Ferns’ grandmother, mother, aunty and sister all suffer from HAE - the ability to share their experiences with one another offering a small amount of comfort between debilitating attacks.
At age 13, Ferns had moved to Perth and still found her condition disregarded by GPs.
“Every time I told someone they just said they didn’t know it or they didn’t understand and had to Google it or look it up. So we went fairly unmedicated for quite some time,” Ferns said.
“We would lock ourselves in our rooms for days and we would have swollen hands and swollen feet and faces ... because no one could do anything for us.
“We’ve been knocked back that many times and told it was something different to what it was.
“Many people with this condition have had their appendix removed ... because it mimics so many other things.”
CEO of HAE Australasia Fiona Wardman also lives with HAE.
“The disease is poorly understood and often misdiagnosed,” she said.
“Internal swellings are not very obvious and may be diagnosed as psychosomatic, resulting in referral for psychiatric evaluation, or misdiagnosed as other illnesses, such as irritable bowel syndrome or allergies.
“Some people go through the unnecessary trauma of exploratory surgery because abdominal HAE attacks mimic a surgical abdomen, yet a simple blood test will determine if a patient has HAE.”
‘I’ve read about this’
Ferns was 23 and working in administration at a hospital when she felt a stomach attack coming on.
She asked one of the physicians working if he could send her home, and prescribe her some of the steroids she was often given by doctors.
The physician told her he had “read about this blood disorder in a book,” and urged her to stay in the hospital.
“Your stomach can swell until it bursts,” Ferns said. “You can’t just sit at home.
“If your throat swells and no one knows about it, you know you’ll die ... like this is serious,” Ferns said as she recounted the physician’s warning.
“You need to understand how serious this is.”
Wardman says the mortality rate for HAE airway obstruction prior to therapy was once as high as 30 per cent.
Through her connections, Ferns, her sister, and her mother were then introduced to a doctor and researcher working in immunology who was finally able to help.
Expensive solutions held back
Her family were eventually introduced to a new treatment - C1 esterase, a vial of the proteins her blood was low on, to be administered intravenously.
It was an expensive solution to her problem, and hesitant doctors often held it back from her due to economic concerns.
“I’d have to fight for my diagnosis even though it was written, even though I was crying about it, they would inject me full of morphine just to keep the pain down,” she said.
“Honestly, I’ve been to doctors where they’ve said, ‘your throat swelling might be a concern to you, but it’s not to us right now’.”
The condition can be triggered by a range of factors including menstruation, stress and alcohol, so the activities of her teens and twenties were very much impacted.
Health care professionals ironically often treated her as though she was hiding alcoholism from them, with her HAE symptoms reportedly showing similarities to pancreatitis.
She felt gaslighted by doctors, and like a burden to her friends, and Ferns says the condition ultimately took a toll on her confidence.
“It did knock my confidence and it was traumatic,” Ferns said.
“But in the same sense, it gave me the need to advocate for this.”
“I need people to know about this and people need to understand how hard it is.”
Treatment at home
Doctors offered Ferns the option to learn to intravenously administer the medication to herself five years ago.
She was around 26 years old at the time, and the ability to treat herself from home changed her life.
She now takes the medication twice a week, and Ferns has only been to the hospital several times over the last five years, including two successful pregnancies.
It’s a process that now takes just half an hour, instead of several painful hours in the emergency department.
The threat of an attack, however, is still “always in the back of my mind”, Ferns said.
A new and effective drug has been developed and is available for prophylaxis - preventative treatment - around the world
“While the drug was registered by the Therapeutic Goods Administration at the beginning of 2019, it took almost two years for it to be PBS listed at the end of 2021,” Professor Katelaris said.
“We desperately need a more efficient approach for drugs for rare diseases. We need to limit the delay for all Australian patients to access state-of-the-art treatment.
“Economic arguments alone are not appropriate for rare disease drugs.”
New gene therapies are being tested and trialled but Katelaris says the process is slow and difficult for rare diseases.
“Clinical trial data is exceptionally difficult to obtain for rare diseases, so we also need to set up structures to accept things such as genetic analysis and target molecule identification as an evidence base,” she said.