There are some crazy diseases out in the world today, and hereditary angioedema, or HAE, is one of them. To see the symptoms in action, you may have to rub your eyes to determine what you’re seeing is real. Symptoms of HAE include episodes of swelling in difference parts of the body, ranging from the hands, feet, face, abdomen, and airways, which can become life-threatening. But that’s not enough–people living with HAE also experience extreme nausea, sometimes vomiting, during a swelling attack.
Typically, symptoms start off small–whether it’s an itchy throat or a queasy feeling–only to progress rapidly into a full-blown HAE attack.
According to the Hereditary Angioedema Association, HAE occurs in 1 in 10,00 to 50,000 people, and as reported by Daily Mail, Amy-Lee Stam-De-Jonge is one of them, having drawn the short straw at the age of two.
At 25 years old, Stam-De-Jonge has endured incredible hardship due to HAE, sometimes keeping her in bed for days at a time.
While the rare disease, affecting only .0001% of the population, leaves Stam-De-Jonge feeling incredibly alone, she is thankful to have her mother, who is also diagnosed with HAE.
Still, though the name suggests HAE is genetically passed down through family members, Fiona Wardman from Sydney, Australia, president of HAE Australasia Diagnosis, has no family history of the disease.
After experiencing symptoms for 27 years, Wardman was finally diagnosed. One of the worst things about HAE, she mentions, is that an attack can strike at any time, and because HAE is so rare, doctors don’t know what to think. Thus, it often goes misdiagnosed.
“I even had my appendix taken out years ago when I was in Paris because doctors thought I had appendicitis,” Wardman says.
People living with HAE typically find it difficult to plan a life around the unpredictability of swelling attacks. For Wardman, she missed a lot of school growing up and found difficulty in keeping up with a career. Most do not understand the condition, so for people living with it, they find it challenging to explain to a boss or coworker why they can’t make it into work one day. For some, it’s like saying, “Sorry. I couldn’t come into work today, because my dog ate my expense report.”
Fortunately, there is research and treatment coming down the pike to treat this incurable disease.
As knowledge begins to spread on this rare condition, Wardman hopes those living with undiagnosed HAE can find the answers they need, so they don’t have to live in fear of their next attack. She says, all it takes to determine the diagnosis is a simple blood test from doctors.
But a diagnosis doesn’t always solve the bigger problem–the pain and emotional issues associated with HAE.
Though Stam-De-Long has grown accustomed to having HAE, her attacks have been growing more frequent, and the medication she has been on hasn’t been working as well. And now that she is at the point in her life where she wants to have children, she worries about having to stop her medication.
To spread awareness about HAE and treatment options, Wardman helps to use HAE Day as a chance to educate the population, so that misdiagnoses become less frequent and patients have a better chance of finding a treatment that’s right for them.
For now, we maintain hope for tomorrow.