Forums » Smalltalk » AMA: Living with HAE

Sup everyone. Saw a few of these and I figured I use it as a way of possibly teaching people about this disease as well as educate others of its existence and issues as well.

I was born with a rarecdisease known as hereditary angioedema. Otherwise known as HAE. And its the major reason i end up ghosting rps or lose complete abilty to function as a human being

I tried a quick search, but the info I saw wasn't really clear, so... could you explain what that is/does?

Sure. HAE Hereditary Angioedema (HAE) is a very rare and potentially life-threatening genetic condition that occurs in about 1 in 10,000 to 1 in 50,000 people.

HAE symptoms include edema (swelling) in various parts of the body, including: hands, feet, face and airway (throat).

Patients often suffer excruciating abdominal pain, nausea, and vomiting caused by swelling in the intestinal wall.

Swelling of the airway or throat is particularly dangerous, because it can cause death by choking.

So I have a friend that was recently diagnosed with HAE is there anything to know about this disease.

How do you end up getting diagnosed with HAE? Are there any specific tests they run?

Yea. know that it's a very manageable disease right now. They currently have a few different drugs available to help manage the disease that they never used to have when i was younger, as they used to treat it with steroids like prednisone or danozol from long term prevention, which didn't work all that great and a solu medrol iv cocktail for emergency ER trip visits. But now they have plenty of other drugs on the market that deal with C1 inhibitor directly such as Takzyro and Firazyr both are administered like an epipen to the abdomen or similar areas of the skin.

Also HAE can be triggered by lots of things, allergies, stress, or physical trauma, and it varies in the severity of the attack each time. I get mine mostly as abdominal attacks.

I would definitely suggest contacting someone from the HAEA for your friend as they have helped me manage my disease a whole lot better and stay well informed.

The best thing you can do as their friend is educate yourself on what to look for if their having an attack, and how to talk to doctors or nurses should they be incapable of doing so. find out what drugs they are taking for the disease management and if they don't have someone to help them with figuring all this out I'd suggest contacting these people below, as they've literally be a life saver for me and others.

The US Hereditary Angioedema Association
10560 Main Street, Suite PS40
Fairfax City, VA 22030

Toll Free: (866) 798-5598
Fax: (508) 437-0303

So first thing I should say is that this runs in my family, had this their whole lives. HAE is an inherited condition and each baby born to a parent with HAE has a 50-50 chance of inheriting the disease.

There are three specific blood tests used to confirm Hereditary Angioedema Type I or II.

1. C1-inhibitor quantitative (antigenic)
2. C1-inhibitor functional
3. C4

They test infants born to parents with the disease usually around 1 year old.