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Wednesday 12 June 2013

Turners Syndrome and Development

This post is a little more personal, but it’s something I’ve wanted to write about for a while. I have a condition called Turners Syndrome, which is a random genetic abnormality where a girl is born with only one X chromosome (as opposed to the usual 2). Turners Syndrome has a prevalence rate of about 1 in 2500 female births, and 98% of pregnancies where the baby has Turners end up in miscarriage. Turners has a long list of symptoms, and each girl with Turners has a unique combination of these symptoms. The ones I have (which are some of the most common) are short stature, infertility, a wide neck, low hairline, birthmarks, a bicuspid aortic valve (a heart condition), and a horseshoe kidney. Some other more severe symptoms include webbing between fingers and toes, learning disorders and spatial problems. If you want to learn more about the condition, take a look at this article by another woman with Turners Syndrome: http://bethanymaxine.hubpages.com/hub/What-is-Turner-Syndrome

I was diagnosed with Turners at age 15, and consider myself very lucky to have modern health care to help me manage my condition. Regular doctor’s visits, heart/kidney scans, and hormone replacement are all I need to live a completely normal life with Turners. However, I can imagine there are many girls all over the world with my condition who are not as fortunate as me. For women in the developing world, Turners could have a big impact on their lives. First of all, diagnosis is probably very low in developing countries, seeing as the technology needed to diagnose genetic disorders would not be very accessible. Also, the resources needed to manage the symptoms (such as ultrasound machines and growth hormones) would be few and far between.


Turners would also be socially stigmatizing in developing countries. For example, I take birth control as an estrogen replacement (as do almost all women with Turners). Contraception is frowned upon and culturally unacceptable in many poorer regions of the world, so Turners women in those places would avoid taking the birth control they need. Also, infertility would cast women out of marriage and a family in developing countries and would diminish their “value” to society. The learning disabilities that often come with Turners could also isolate women, seeing as learning disabilities are not well understood or provided for in the developing world.


As a woman with Turners and a development practitioner, I can only hope that conditions like mine will one day be manageable in both the developed and developing world. This might not be the kind of change I will be working for in my future, however, it’s an issue I am now more conscious of.

6 comments:

  1. I love this blog post Michelle! Props to you for writing about such an important topic and sharing your own story. That sure needs a lot of courage! I hope that one day, everyone in the world will have necessary healthcare arrangements for such conditions and these will be viewed as what they really are i.e. conditions and not excuses to alienate people. It was a very moving post. Thank You.

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    1. Thank you Sumbal! I definitely agree with you, conditions like Turners shouldn't alienate people. I guess the question then becomes how do we turn things around and reduce the alienation?

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  2. Do you know if Turners has been diagnosed at all in any developing countries? I think that your point about cultural differences is interesting. With so many cultural differences what do you think would be the most appropriate starting point for addressing this issue?

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    1. To be honest, I couldn't find research specifically about diagnosis in developing countries. However, I did find out that a number of tests must be performed to fully diagnose Tunerners, including blood hormone levels,echocardiogram, karyotyping, MRI of the chest, ultrasound of reproductive organs/kidneys and a pelvic exam. All of these tests are very expensive, and the main test (karyotyping, which analyses the chromosomes in a cell) is extremely expensive. I think the biggest thing that would reduce alienation would be awareness and diagnosis. If people better understood Turners and it's effect on women, maybe having it wouldn't be so stigmatizing. Other then that, the social stigma is somewhat entrenched in cultural beliefs/values (such as the importance of fertility) that would be very hard to change.

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  3. Can I comment on how Turners is the result of a genetic abnormality?
    I am always so interested by genetics, and the idea of it not being recognized in developing countries is very valid. My point is that what if the ethnicities of many developing countries are not at risk of Turners Syndrome? I do not know anything concrete about this, but I do know that some genetic abnormalities do not cross racial boundaries unless someone is mixed, IE: a Mongolain blue spot. A Mongolian blue spot is something a baby is born with, and it looks like a giant blue/black bruise on the child usually on the lower back. I know what it is because I had one. It is prevalent only in Asians or Southeast Asians and is the result of genetics. Same with Hemophilia - Hemophilia is largely a European thing and is strongly hereditary.
    Just an idea, maybe it can apply to this as well?

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    1. I have done research into that, and Turners effects women equally across race and ethnicity. It is literally just a 1 in 2500 chance that you will be missing an x chromosome. I do see where you're coming from though, and I have heard of diseases/disorders that are only prevalent or are more prevalent in certain cultures.

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