Like many with hereditary angioedema, this family didn’t know the disease was affecting several of its members until one member, Ken, was diagnosed at 25 The Telegram reports. From there, his family was able to diagnose three of Ken’s siblings with the disease, as well as his father. And now, two of Ken’s three children have it.
Hereditary Angioedema (HAE) is an extremely rare disease (affecting about one in every 50,000 people) that’s caused by the absence or dysfunction of a protein called the C1 inhibitor.
“I couldn’t walk. My hands, my feet, my face. I was unrecognizable,” Ken said about the sudden, debilitating swelling caused by HAE attacks.
One of the major problems with the disease is that it’s a tricky one to diagnose. It’s easy enough to mistake for an allergy attack or something more common; however, a misdiagnosis can quickly become detrimental if swelling begins in the throat.
Fortunately, there are fairly good treatment options available for patients who are diagnosed with HAE. Amanda, Ken’s daughter, decided to treat her hereditary angioedema when she feels an attack coming on, unlike her father and aunt who opted for a weekly treatment. And, throughout someone’s experience with the disease, they will likely learn more about the things that trigger their attacks, like stress or trauma, and work to avoid those sensations.
“For people who don’t know what they have, it’s a really high fatality rate because if you show up at the hospital with a throat swelling, they give you an epipen and stuff like that,” Amanda tells the Canadian based news syndicate. “And that’s not going to do anything.”
Nowadays, Ken’s family is a huge advocate for the HAE community and spends much of their time speaking with people about the importance of getting tested and recognizing symptoms to improve their quality of life. Because there’s no reason to live with a disease that can be identified with a single blood test.
Hereditary angioedema is no joke, and we please ask that anyone who may be at risk to have you and your family checked out. Pass this story along to help others get their diagnosis early and fast!
