Searching for the connections among my family’s diagnoses
We have a boatload of various types of angioedema and related conditions
The first time I remember seeing spontaneous swelling was when my firstborn, Aria, was about 6 months old. We’d taken her to a park where her dad and a friend were playing tennis. As I sat with her on a bench amid freshly mown grass, I looked down and saw her face swell up like a balloon and her eyes swell shut.
When I called out, both tennis players came running over. Our friend said he’d seen similar swelling with his sister’s allergies and suggested we move Aria into the car and turn on the air conditioning to help her breathe. With that, she quickly returned to normal. So I thought it’d been an allergic reaction, right? I’ve never seen anything like it during her childhood or teenage years.
Years later, I noticed that my son Dorian, who was about 6 at the time, had a serious reaction to a mosquito bite while playing at the pool. As soon as he was bitten, the spot swelled to the size of a teacup. I quickly applied some topical antihistamine, and it deflated before my eyes. Another allergic reaction, we supposed.
A cascade of diagnoses
As I’ve mentioned in a previous column, my adopted daughter, Leah, has had various ongoing chronic health issues and multiple rare disease diagnoses in her journey. She was initially diagnosed with allergies, then postural orthostatic tachycardia syndrome (better known as POTS), and the nervous system disorder dysautonomia. Afterward she learned she had mast cell activation syndrome (MCAS) and hereditary angioedema (HAE) type 2.
Leah’s primary swells are in her veins and throat; the swells are invisible and possibly life-threatening. Her dramatic HAE diagnosis was the first we’d known. She also had genetic testing that confirmed a rare connective tissue disorder, congenital contractural arachnodactyly, also known as Beals syndrome.
I also have a connective tissue disorder, Ehlers-Danlos syndrome (EDS), for which I was diagnosed years after Aria was the first in our family to learn she had it. Of my three biological sons, Dorian has MCAS and HAE type 1, Canon has EDS, and Chant has dysautonomia post-Lyme disease and EDS symptoms, but no diagnosis yet. I have HAE type 3, chronic Lyme disease, MCAS, and other conditions.
A few years ago, Aria was in her 20s and with us for the summer while working a fast-food job. The restaurant was debuting a sandwich, which she gave a try. Immediately, she had an allergic reaction, the first she’d ever noticed. Her lips swelled so large that they looked like they were fake! Her manager insisted she go to the emergency room ASAP.
When she came home, she told us that she’d been diagnosed with acute allergic angioedema. My first thought was “Angioedema? This is nothing like the angioedema I know about with Leah.” Fortunately, Aria hasn’t needed medication or treatment — yet.
A pattern?
Are you noticing a pattern here? We do! Our immunologist has even confirmed that there seems to be a relationship among all of our diagnoses. Is it inflammation? Is it autoimmune? Is it genetic? Yes, and the research continues.
When we first learned about HAE, all the information was either about bradykinin — a chemical in the body that can trigger swelling — or about regular or irregular blood levels of C1, a protein. We now know about precursor chemicals to bradykinin (factors XII and XIIa, prekallikrein, and kallikrein).
Hopefully ongoing research, and possibly a study of our crazy family, will help scientists soon find the root cause and maybe a cure for this unpredictable and multifaceted rare disease.
Note: Angioedema News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Angioedema News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to angioedema.
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