Evaluating my options for treating sickle beta-zero thalassemia
A columnist weighs the potential risks and benefits of various therapies
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Note: This column describes the author’s own experiences with hydroxyurea and thoughts about other treatment options. Not everyone will have the same response to treatment. Consult your doctor before starting or stopping a therapy.
I spent the first week of the year recovering from a nasty cold. After two weeks of travel from San Francisco to Atlanta and back home to Washington, D.C., my body told me it was time to rest. I’ve written previously that I try my best to practice self-compassion when I get sick, despite dreading the surplus of downtime.
The following week, I had a routine hematology appointment. During the visit, the physician I saw in place of my usual hematologist asked whether I had ever discussed alternatives to hydroxyurea, the sickle cell medication I’ve been taking since I was 12. I have considered my other options, but have yet to make any decisions.
This appointment caused me to once again ponder some of my options for treating sickle beta-zero thalassemia.
Hydroxyurea
Hydroxyurea is a chemotherapy drug that can lessen the need for blood transfusions, reduce the frequency of vaso-occlusive crises (VOCs), and decrease the risk of acute chest syndrome (ACS) in sickle cell patients. Thanks to my adherence, I experience fewer VOCs and ACS episodes, can go longer between hospital stays, and require fewer blood transfusions. Hydroxyurea reliably helps me manage some of my sickle cell symptoms, and I experience few side effects.
Stem cell transplant
A stem cell transplant would involve replacing my bone marrow with a donor’s healthy marrow. For me, the outcome of this treatment option seems much more variable than that of continuing hydroxyurea.
On one hand, a successful transplant could cure my sickle cell disease. However, the procedure would require stem cells from a matched donor. My sister could be an option, but I’m not sure if she’s a match. I’d then go through chemotherapy and radiation to wipe out my stem cells before the new ones are transplanted, and recovery could take up to a year.
A stem cell transplant carries risks that concern me, such as developing graft versus host disease, losing my hair, setting aside a year of my life when I’m in the middle of getting my doctorate degree, and potentially facing complications later in life. But if I were cured, I’d get to experience life “normally.”
Gene-editing therapy
The U.S. Food and Drug Administration approved the first gene-editing therapy for sickle cell disease in December 2023. This procedure would involve collecting my stem cells, editing them in a lab, and then returning them to my body through a stem cell transplant.
If successful, this therapy could significantly reduce the frequency and severity of my VOCs. My concerns include cost (over $2 million) and, again, losing my hair due to chemotherapy. Also, because the therapy is so new, data about how treated patients fare long-term is limited.
To me, all of these options are both promising and daunting, and there’s no clear “right” choice. Ultimately, all I can do is choose the therapy that I believe will be best for my life and hope that everything works out in the end.
Note: Sickle Cell Disease 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 Sickle Cell Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to sickle cell disease.
Kate
I have the same rare anemia, thalassodrepanocytosis. I'm 51 years old, and only now do I realize that if I'd had the chance to treat myself in some other way by the time I was 40, I would have done so. But treatment came late for me due to the doctors' lack of knowledge about this variant where I live. Not treating me has exacerbated and worsened the condition of my organs, leading to a near-dependence from others in my daily life.
If you have a chance at recovery, don't miss this opportunity. Losing a year in treatment is nothing compared to a disease that makes you increasingly tired and debilitated and could one day lead to despair. For years, my symptoms were manageable, and I believed I could get by, but there's one thing they don't explicitly tell you about this disease: it's progressively degenerative. The older you get, the less your body can handle it. I found out too late. I've been undergoing treatment for only two years and recently started hydroxyurea. The doctors neglected me, and I neglected myself, because I thought I was capable of coping, while the damage was there but unseen; it was inside me. I had lost my spleen, and my kidney damage had gradually advanced, but no one bothered to tell me until it became chronic and serious. Now, there are few treatments available for me, and probably no one would want to risk my life with a "genetically advanced" treatment. My advice is to try every avenue to avoid reaching a point where you have no choices. Even if those avenues lead to sacrifices in life, you can start over as a healthy person, and believe me, even at the cost of suffering, I would do it to cure myself. Good luck!