I was diagnosed with Thalassemia pretty much from the moment I was born. They showed me to my Mom, put me in an ambulance, drove me to another hospital, gave me a bunch of blood transfusions, and kept me in an isolette for a week. Having Thalassemia means you are generally low in hemoglobin and constantly anemic. It's a microcytic anemia which differs from iron deficient anemia. My hemoglobin is small and malformed, it breaks down early and can't carry the iron, which can lead to iron overload. Hence a spleen that works overtime to filter out all that extra stuff the hemoglobin doesn't carry.
I can remember the first time my hemoglobin reached 10. I had been wearing a heart monitor for a month and we were waiting for test results. The doctor called us at home (this was the 80s) and my hemoglobin was 10! Exciting! The big celebration was going out to see "Brigadoon" at our local community theatre. I can remember sitting in my seat and thinking about finally being at that elusive 10.
For pretty much my whole life doctors would say I had Beta Thalassemia, but there were always caveats. I had Alpha traits but not enough for transfusions, Minor traits but too many symptoms to keep me in that category. One doctor decided it was Thalassemia Intermedia and that seemed to answer most of the questions.
Then came the issue of my spleen. I've always had an enlarged spleen. Which many people have with Alpha, but not as many have it with Beta. As I got older and more diagnoses added to the pile, the spleen pain and size increased and I had a hematologist that was very intent on removing it. Which, I do not want. Which my Immunologist does not want either.
Then came the second opinion, with a new hematologist, and a slew of genetic tests. That's when I got the MyChart message of "You have the very rare form of Thalassemia called Epsilon Gamma Delta Beta Thalassemia." Basically all the Beta-Globin genes are deleted on my 11th chromosome. It causes severe neonatal anemia and most babies born with it didn't and don't survive. By taking me to another hospital and giving me those transfusions, those doctors saved my life.
There are maybe forty documented cases of Epsilon Gamma Delta Beta Thalassemia on the planet.
Adding this adjusted diagnosis to my already impressive heap of malarkey, there's hEDS, Hypogamoglobulinemia, CRPS, MCAS, Dysphagia, and POTS, I am literally and figuratively unquantifiable. One in a trillion. When I gave the news to my Primary Practitioner he said "You are even more special than we thought."
My Mom always said I was special.
