I’m missing a chromosome, but I have plenty of desire to live
Marel
I am the youngest of two sisters, born and raised in northern Mexico. I was born through a natural birth, without complications and quickly. However, I was born with swollen hands and feet, so the doctors decided to wait for the swelling to go down and, if it didn’t, they would follow up. As the swelling persisted, they decided to perform a karyotype test, which revealed that my chromosomes are X0, that is, Turner Syndrome. This condition affects 1 in every 2500 girls.
That’s when my journey through hospitals began. The geneticist monitored my growth, and since I was growing within the ‘normal’ range, I was never administered growth hormone. I would have liked to grow taller because part of my family is 1.70 metres or taller. I didn’t reach that height.
When I was 9 years old, I developed hypothyroidism, which is characteristic of Turner Syndrome. So, they decided to send me to paediatric endocrinology. The paediatric endocrinologist treated my hypothyroidism and, at age 12, she started giving me equine estrogens and progesterone.
As part of the comorbidities of Turner Syndrome, at 13, I developed lymphedema in my lower limbs. I also have a horseshoe kidney, which makes me prone to urinary infections. Currently, all of this is under control, and I am being monitored.
After starting the treatment with estrogens and progesterone, my body began to develop typically female secondary sex characteristics. I also started menstruating.
Everything was going well, but around the age of 15, I found out that I wouldn’t be able to have biological children…this really saddened me, as part of me longed for that. However, at my young age, I was aware that it would never happen.
Time passed, I studied two bachelor’s degrees and a master’s degree. At 25, I had my first formal job, and I joined a system where one of the benefits is health insurance. So, I started getting treatment through that health insurance.
By then, I was still taking hormones—estrogens and progesterone—in different forms. I sought help to follow up on my hormonal treatment until a gynaecologist prescribed bioidentical hormones. I bought these hormones and started the new treatment. However, after some time consuming this treatment, I began to have nipple discharge, and after I insisted a lot, they performed a biopsy. I was informed that I had breast cancer because of the hormonal treatment. The hormones were immediately withdrawn, and I began treatment with hormone blockers, underwent sentinel node biopsy, and had radiotherapy.
During the cancer diagnosis process, I went through extremely uncomfortable situations. I already knew something was happening with my body, and a gynaecologist who was treating me told me to stop taking the hormones, to which I responded that if I didn’t take them, I would go through menopause, and he said to me: “You’ve been in menopause since you were born”. I found this comment extremely degrading and unnecessary. This same gynaecologist didn’t want to operate on me, despite his boss sending him a written order to perform a protocol for mastopathy. So, I had to complain. I was assigned a different gynaecologist, and subsequently, I had the surgery and continued the treatment.
While going through all of this, I received various comments from family members, such as: “It’s good that you got cancer and not your sister because she has children,” which really hurt me, and I think is degrading. Similarly, recently a friend of my age passed away; she did not have children, and I heard comments like: “It’s good she didn’t have children!” I understand that by dying, she didn’t leave anyone orphaned, however the life of every person is equally important, regardless of whether you have children or not. I also believe that what truly matters is giving a good quality of life to the children one has, something many people who call themselves parents do not do.
I finally managed to recover and beat breast cancer. Despite all the complications and implications, I have always moved forward. Currently, I have a stable job, thanks to which my parents and I have health insurance, I was able to acquire my own assets, and I am self-sufficient.
Now, I would like to go back and tell my story in more detail regarding intersex. I have always identified as a woman and I like men. However, I always knew something was different about me, something I didn’t know how to explain. In 2022, I attended a conference and heard the term intersex, and I noticed that people with Turner Syndrome are intersex. This generated mixed feelings in me; on the one hand, I felt anguish, but on the other hand, relief, because I was able to know that I was an intersex woman, and that my particularities make me unique, unrepeatable, and a survivor.
I write this story to raise awareness about Turner Syndrome, to be cautious with hormonal treatment and its implications for health, and to contribute to the existence of an adequate medical protocol and follow-up. I am aware that all cases are different; however, medical care must be dignified, adequate, and timely. Additionally, I want to emphasise the importance of having the support of a diagnosis through a karyotype, as in my case my parents never had the foresight to request and preserve it.
I also want to highlight the importance of people with Turner Syndrome having the right to dignified and free medical care for life, as well as access to their medical records and appropriate and informed medical treatment, since not everyone has access to a truly dignified health system. Moreover, I believe that early detection is crucial. My parents also did not foresee or take the precaution of providing good and lifelong medical service for my care, and when I turned 21, my health insurance was automatically taken away.
Currently, thanks to my job, I have access to health insurance, but I consider it extremely important to ensure that this is an inherent right and guarantee provided to people with Turner Syndrome, because, like me, many women go through similar situations.
Now I know that I am not alone, that there are many people who have truly helped me. I know where and how to ask for help, and I also know when to raise my voice when something is not right, and the appropriate means to do so.
This piece is a translation of the Spanish text – Me falta un cromosoma, me sobran ganas de vivir.