‘My stomach got bigger and bigger’: Mom’s life-threatening condition misdiagnosed for years
Larissa Ferns, 33, first developed painful swellings as a child – the result of a rare and life-threatening blood disorder that doctors would misdiagnose for years.
She first felt her skirt tighten at school, but the disease would later cause sporadic enlargement of her body, from the tissues deep in her face to her internal organs.
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Ferns was 12 years old when she experienced her first seizure.
“I felt sick, and then my stomach just got bigger and bigger, and then I started vomiting,” she recalls.
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 given painkillers, and was eventually sent on her way — a process that would soon become routine.
Her consistent diagnosis of hereditary angioedema (HAE) was nearly a decade away.
“It was such a small town. It was like, ‘Oh, take this and go,’ said Ferns.
“There wasn’t medication, like all my life.”
Ferns first developed acute hereditary angioedema (HAE) symptoms as a child in New Zealand. Credit: Included
HAE is a rare inherited blood disorder classified as a primary immunodeficiency (PID).
It works by building fluid outside the blood vessels due to low levels of a complex protein, a C1 inhibitor, in the blood.
This blocks blood flow and lymphatic fluid, causing tissues to swell and cut off internal circulation quickly.
It can affect the hands, feet, and face and, more dangerously, cause swelling in the respiratory tract, stomach, and intestines.
HAE can affect the hands, feet, and face and cause a more dangerous swelling in the airways, stomach, and intestines. Credit: Included
It affects about 1 in 10,000 to 1 in 50,000 people, and experts advocate equal access to life-changing treatments.
Chair of the HAE Working Group 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 understand the biochemical pathways that lead to the swelling, and several drugs have been developed.”
A hereditary pain
HAE is a genetic disorder, and children of a parent diagnosed with it have a 50 percent chance of inheriting it — although spontaneous gene mutation at conception results in 20 percent of cases.
Ferns’ grandmother, mother, aunt, and sister all suffer from HAE – the ability to share their experiences, providing some comfort in between debilitating seizures.
By age 13, Ferns had moved to Perth, and GPs still ignored her condition.
“Every time I told someone, they just said they didn’t know or didn’t understand and had to Google it or look it up. So we’ve been pretty unmedicated for a long time,” Ferns said.
“We’d lock ourselves in our rooms for days and have swollen hands, feet, and faces…because nobody could do anything for us.
“We’ve been hit back so many times and told it was something different than it was.
“Many people with this condition have their appendix removed… because it mimics so many other things.”
Larissa Ferns, 33, first experienced painful swelling as a child. Credit: Included
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 apparent and can 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 keyhole surgery because abdominal HAE attacks mimic a surgical abdomen, but a simple blood test will determine if a patient has HAE.”
‘I have read about this.’
Ferns was 23 and was working in a hospital administration when she felt a stomach attack coming on.
She asked one of the doctors at work if he could send her home and prescribed some of the steroids doctors often gave her.
The doctor told her he had “read about this blood disease 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.
Angioedema is the rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa, and submucosal tissue. It can be deadly. Credit: 7activestudio/Getty Images/iStockphoto
“If your throat swells up and no one knows about it, then you know you’re going to die… like this is serious,” Ferns said, relaying the doctor’s warning.
“You have to understand how serious this is.”
Wardman says the death rate from HAE airway obstruction before therapy was high as 30 percent.
Through her connections, Ferns, her sister, and her mother were introduced to a doctor and researcher working in immunology who could finally help.
Expensive solutions stopped
Her family was eventually introduced to a new treatment – C1 esterase, a vial containing the proteins her blood lacked, to be given intravenously.
It was an expensive solution to her problem, and hesitant doctors often stopped her because of economic concerns.
“I would have to fight for my diagnosis, even if it were written, even if I cried about it, they would inject me full of morphine to suppress the pain,” she said.
“Honestly, I’ve been to doctors where they’ve said, ‘Your throat swelling may be a concern for you, but it’s not for us right now.'”
Painful swelling often brought Ferns to tears, but this wasn’t enough for a while to get the medical treatment she needed. Credit: Included
The condition can be caused by various factors, including menstruation, stress, and alcohol, so the activities of her teens and twenties were greatly affected.
Ironically, healthcare professionals often treated her as if she were hiding alcoholism from them, with her HAE symptoms reportedly showing similarities to pancreatitis.
She felt tricked by doctors and a burden on her friends, and Ferns says the condition negatively impacted her self-confidence.
“It affected my confidence and was traumatic,” Ferns said.
“But along the same lines, it gave me the need to advocate for this.”
“I want people to know this and understand how hard it is.”
Treatment at home
Doctors offered Ferns the opportunity to learn to administer the medication intravenously to himself five years ago.
She was about 26 years old at the time, and the ability to treat herself from home changed her life.
She is now on the medication twice a week, and Ferns has only been hospitalized a few times in the past 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.
However, the threat of an attack is “always in the back of my mind,” Ferns said.
Ferns can now treat herself at home to spend more pain-free time with her children—credit: delivered.
A new and effective drug has been developed that is available worldwide for prophylaxis – preventive treatment.
“While the Therapeutic Goods Administration registered the drug in early 2019, it took nearly two years to get it on the PBS list at the end of 2021,” said Professor Katelaris.
“We urgently need a more efficient approach to medicines for rare diseases. We must limit the delay for all Australian patients to access advanced treatments.
“Economic arguments alone are not suitable for rare disease drugs.”
New gene therapies are being tested and tried, but Katelaris says the process is slow and difficult for rare diseases.
“Clinical research data is exceptionally difficult to obtain for rare diseases, so we also need to set up structures to accept things like genetic analysis and identification of target molecules as the evidence base,” she said.