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RARE DISEASES

Hereditary Angioedema

Patients of hereditary angioedema (HAE) tell us more about their rare genetic disorder.

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What is HAE?

HAE is short for hereditary angioedema. It’s a rare genetic condition that occurs in almost only boys . It can be extremely uncomfortable and even life threatening, understandably making day-to-day life very difficult and often full of angst and worries for patients. We want to tell the world about this disease in the hope that everyone living with HAE can receive the timely diagnosis they need and deserve.

To give you more insight, HAE causes different parts of the body to swell due to the defect in the gene that controls a certain blood protein. The typical job of this protein is to help fight disease, respond to inflammations and blood clots. But when this protein isn’t working properly, an imbalance can occur which then triggers these painful swelling attacks.1 The areas that HAE can affect are:2

HAE Symptoms

What’s life like with HAE?

Swelling attacks are random and every patient responds differently to them.3 Katherine has always had HAE but didn’t get her first attack until she was 17. Now, her attacks are mainly abdominal and she’s found they’re triggered by certain foods. Yet, her amazing proactive and positive attitude to life means she stays on top of things (and she has become an excellent planner when it comes to eating too!).

Jørn has also chosen to not let the disease stand in his way of living life, and has this same wish for his son:

“My son has now also been diagnosed with HAE. He has weekly attacks. The biggest dream I have for him is that he leads a normal life, the way I have.”

HAE Stories - Jorn

HAE

Jørn

How is HAE diagnosed?

Because HAE is rare, it can be mistaken for other problems.4 Jørn’s mother and elder brother have lived their whole lives with HAE but haven’t always known it. Their attacks were mistaken for allergies and Jørn’s brother even had his appendix removed because doctors suspected appendicitis instead of HAE.

If a doctor does suspect HAE they usually perform a simple blood test to measure protein levels in the blood.5 Diagnosis can be a scary time but often patients find that diagnosis can give them closure:

“You could let HAE really get in the way of everything that you’ve always wanted to do. Or you can make a decision to get on top of it and be a better planner.”

HAE Stories - Katherine

HAE

Katherine

Both Jørn and Katherine have made a brave and conscious decision to not let HAE stop them from doing anything. We are in awe of this positive outlook on life and hope it inspires others who may be going through a rare disease diagnosis.

Related articles

Want to learn more about HAE? Please visit:

Menothae.com

Related articles

Want to learn more about HAE? Please visit:

Menothae.com

Help us raise awareness of HAE!

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I decided not to let HAE stop me from doing anything, and that’s how I live today.

HAE Stories - Katherine

HAE

Katherine

Have you got a story?

Everyone living with a rare disease has a story to tell. Whether it affects you directly or you’re a friend, colleague, family member or healthcare professional, we all have our own challenges and ways with dealing with them.

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