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it turned out that i have a disease
Feb. 27th, 2026 01:58 am![[personal profile]](https://www.dreamwidth.org/img/silk/identity/user.png){kind=small}
hypostatizeSeveral months passed. I moved to a new town, made new friends, battled my perfectionistic tendency as the assignments and exams grew harder and harder. The fever, once thought to be Lyme disease, was not. I grew feverish and delirious; I missed classes and midterms. Blood tests were performed again and again, looking for abnormal antibodies; when they found none, they started looking for cancer.
It’s either you have an infection eating away at the valves of your heart or it’s cancer, they told me. The echocardiogram showed slight damage on the mitral valve. I took two grams of penicillin every day, was told I’d have to take it for the rest of my life. I collapsed and was hospitalized for a week. No sign of infection in my heart. The PET scan had a glowing mass in my neck. On a whim, genetic testing was performed and I was asked if I’d traveled somewhere with malaria, if I’d touched livestock recently, if I was eating any strange plants. No and no and no.
After a month of waiting and agonizing, the lymph node biopsy was negative. I was so happy to not have cancer that I danced around my apartment, spinning around in circles over and over again like a carnival ride.
One week later, the genetic testing results came back.
Maybe it’s a common misconception, or maybe I was just deluding myself, but I’d always thought that a disease called “familial mediterranean fever” would only strike someone who was from the Mediterranean, or at least someone whose parents were from the Mediterranean. Despite being Chinese genetically (American in pretty much every other way that matters), I had two mutations in the relevant gene. Oddly, they were two mutations on the same chromosome, so autosomal dominant disease with a rare complex allele. Instead of taking penicillin for the rest of my life, I must now take two pills a day of colchicine to prevent kidney failure from the abnormal protein buildup that is a consequence of untreated disease. Other frightening effects of the disease include random attacks of abdominal pain so bad you think your appendix has exploded inside your body, but once they open you up for laparotomy the appendix is happy and healthy.
I wonder if it was my mother, who suffers from more typical inflammatory conditions, who carried the mutation, or my father, who I do not speak to except when occasionally sending a birthday missive. Will my sister grow up to have this disease? My brothers? If I had children, would they get sick and die? I suppose everyone dies. But even though I am still alive, I couldn’t wish this on anyone.
In the morning I take one dose of colchicine and in the evening I take another. The side effects include diarrhea and the breakdown of the intestinal lining, as well as bone marrow suppression. I have acclimated to the gastrointestinal side effects for now but every time I get bloodwork done my red and white blood cells remain stubbornly low. The fevers have decreased in frequency somewhat, from occurring every 3 weeks to every 4 and a half. I will likely have to increase the dose, or switch to an injectable medicine that costs $10,000.
Hooray!
It’s either you have an infection eating away at the valves of your heart or it’s cancer, they told me. The echocardiogram showed slight damage on the mitral valve. I took two grams of penicillin every day, was told I’d have to take it for the rest of my life. I collapsed and was hospitalized for a week. No sign of infection in my heart. The PET scan had a glowing mass in my neck. On a whim, genetic testing was performed and I was asked if I’d traveled somewhere with malaria, if I’d touched livestock recently, if I was eating any strange plants. No and no and no.
After a month of waiting and agonizing, the lymph node biopsy was negative. I was so happy to not have cancer that I danced around my apartment, spinning around in circles over and over again like a carnival ride.
One week later, the genetic testing results came back.
Maybe it’s a common misconception, or maybe I was just deluding myself, but I’d always thought that a disease called “familial mediterranean fever” would only strike someone who was from the Mediterranean, or at least someone whose parents were from the Mediterranean. Despite being Chinese genetically (American in pretty much every other way that matters), I had two mutations in the relevant gene. Oddly, they were two mutations on the same chromosome, so autosomal dominant disease with a rare complex allele. Instead of taking penicillin for the rest of my life, I must now take two pills a day of colchicine to prevent kidney failure from the abnormal protein buildup that is a consequence of untreated disease. Other frightening effects of the disease include random attacks of abdominal pain so bad you think your appendix has exploded inside your body, but once they open you up for laparotomy the appendix is happy and healthy.
I wonder if it was my mother, who suffers from more typical inflammatory conditions, who carried the mutation, or my father, who I do not speak to except when occasionally sending a birthday missive. Will my sister grow up to have this disease? My brothers? If I had children, would they get sick and die? I suppose everyone dies. But even though I am still alive, I couldn’t wish this on anyone.
In the morning I take one dose of colchicine and in the evening I take another. The side effects include diarrhea and the breakdown of the intestinal lining, as well as bone marrow suppression. I have acclimated to the gastrointestinal side effects for now but every time I get bloodwork done my red and white blood cells remain stubbornly low. The fevers have decreased in frequency somewhat, from occurring every 3 weeks to every 4 and a half. I will likely have to increase the dose, or switch to an injectable medicine that costs $10,000.
Hooray!
