Well, if you’ve been diagnosed with hereditary angioedema (HAE) you probably can imagine those things and how difficult they can be to deal with.

HAE is a caused by a rare genetic defect on chromosome 11. The gene controls a blood protein called C1-inhibitor, and when it’s defective, the protein isn’t able to do its job. That leads to excessive amounts of peptide called bradykinin. Bradykinin promotes inflammation by increasing the leakage of fluid through the walls of blood vessels into body tissues, causing them to swell.

Youtube User Allergic Amanda shares her similar experiences with HAE. You can follow more of her story to hear how she dealt with the initial diagnosis.

Many things can trigger an HAE attack, including stress and physical injuries, but the swelling often occurs without a known trigger.

“Living your life in constant fear of the next swelling attack is difficult,” according to the mysterious woman featured in a Global Genes story.

She admits, “and with the swellings coming on every 7-10 days it is very hard to get on with life. I always had to have a Plan B. There really didn’t seem to be any strict pattern on when or where a swelling would occur, but sometimes an attack would start when I bumped myself, or from repetitive strain. Other times it came on from doing nothing. Along with the swelling, symptoms include vomiting, diarrhea, fainting, hot and cold sweats, and pain.”

Often, HAE appears in multiple members of a family, but some scientists estimate that in 20% of cases the gene spontaneously mutates . So, to make matters worse for that 7-year-old little girl who had to wait 26 years for answers, no one else in her family was affected by strange swellings. She grew up feeling like a freak.

Once she was diagnosed with HAE, she was able to get on medication.

“I felt like I got my life back,” she says.

Meeting with other people who had HAE and being involved with others who had HAE is important to her, not only for support, but to raise awareness. If there’s no HAE support group in your area, you can start one, such as HAE Australasia, a not for profit patient advocacy organization.

Many people–including many healthcare professionals working in emergency care–aren’t very familiar with or have ever even heard of hereditary angioedema. But HAE can be fatal. When swelling occurs anywhere near the throat, it can cut off a person’s breathing. Immediate, accurate treatment is essential in these moments.