Raising HAE Day awareness
A LARA mum has spoken of the challenges presented by living with hereditary angioedema (HAE), a rare and potentially life-threatening genetic condition that leads to painful swelling.
Nikki Roche, 30, started displaying symptoms, which can include episodes of swelling in various body parts including the hands, feet, face and airway, aged 22.
Ms Roche, who has family members with the disease, initially noticed her hands swelling, then her face.
One day she woke with a scratchy throat, and said her airway and lips began to swell.
Airway swelling is particularly dangerous and can lead to death by asphyxiation.
When Ms Roche experienced attacks, she would present to hospital, where she would be given injections.
“That process arriving at the emergency department was almost traumatic in itself,” she said.
She initially had trouble receiving a diagnosis as blood tests were not consistent with HAE, she said.
After moving from Perth to Victoria, Ms Roche was 25 when she was formally diagnosed
with HAE by a specialist. Between symptoms emerging and her diagnosis, she said her headspace was “really quite low”.
“I look back and it was really, really hard,” she said.
Attacks would leave her
exhausted and unable to get out of bed.
After diagnosis, Ms Roche was put on management medication, which she injected, that she said had made a massive difference.
“I haven’t been hospitalised
in 4½ years because of it,” she said.
Before the medication, she said she was experiencing attacks three to four times a week, but could now go a month without one.
She takes additional medication
if she experiences an episode, which could be linked to triggers such as stress.
“Sometimes I can feel completely normal but in five minutes I can have quite a bad stomach swelling, where I can feel quite sick and
I need to get an infusion in me quite quickly,” Ms Roche said.
Patients often have bouts of excruciating abdominal pain, nausea and vomiting that is caused by swelling in the intestinal wall.
The attack rate varies, but some people can have several attacks a month, making it difficult to live a normal life.
For people with frequent attacks, preventive therapy can be administered on a short-term or long-term basis.
Hereditary Angioedema Day, or HAE Day, on Monday, focuses on raising awareness of the rare disease.
This year, experts are calling for equitable access to lifechanging treatment.
HAE working party chair for the Australasian Society of Clinical Immunology and Allergy Connie Katelaris said all Australian patients should have access to state-of-the-art treatment.
Professor Katelaris said gene therapy was being developed for a number of rare diseases, including HAE.
“When the trials have been completed, we will need processes in place to allow equitable access to what will be curative therapy,” she said.