Metamorphosis- Growing up with Turner Syndrome

13. The miracle of life- Scientific curiosity

Listening to good, informative talks about TS is like a crashcourse in all areas of medicine, ranging from genetics, endocrinology, cardiology, orthopedics, immunology, gastroenterology, diabetology, pediatrics, nephrology, opthalmology and even orthodontics and dentistry to psychiatry and psychology. For us, gaining this medical knowledge can seem like more of a scary necessarity, than a fun exploration of science- and often, what you end up finding out is scary more than anything else. It really is interesting, how deeply one can care about a highly theoretical talk concerning genetics, if each and anything the speaker says could affect oneself on a personal level. How anxiously one can be listening to each and any expression a speaker happens to use, wondering for ages: Did he just say, that this symptom is frequently seen in TS, or even that it is usually seen as a symptom of TS? Am I going to get this or that? It is very easy to forget, in the process of trying to understand Turner Syndrome better, how flawed even doctors who should be specialists concerning TS can be- After all, they, too, are only humans. And it gets even more tricky, if you are dealing with a non- expert in TS who is your doctor, and suddenly you have to be the expert regarding your own condition. More than anything, these problems I listed above seem typical things anyone living with a rare chronic illness could relate to, while "chronic illness", on the other hand, is nevertheless not exactly the best analogy to descibe TS. 

I however did not want to write about force- fed, anxiously remembered medical information concerning TS here. I wanted to write about a genuine curiosity regarding genetics and more precisely the secrets of the X- chromosome, about the fascinating science behind TS and everything this unique condition can teach the medical profession. "Psychiatrists specialize in their defects". This quote is taken from the book "Mount Misery" by Samuel Shem, author of the brilliant novel "House of Gods"- a work, that could make anyone afraid of doctors and hospitals. The "law" he wrote down does not only hold true for psychiatrists. I am sure, that in all of medicine, people tend to specialize in fields they feel a very personal connection to. There are some people, who are looking to find a treatment for a loved one, there are some trying to cure the condition that took their loved one's life. There are some people, who are aiming to find a cure for themselves. And if we are talking about chronic conditions, they more often than not also have a psychosocial aspect to them. If you live with a chronic condition, someone with the same diagnosis as you might be able to fully relate to what you are going through, while others can not. And, in the case of TS, someone with the same diagnosis might even to some degree think and behave similarily to you to start with- which is a tricky thing to talk about, but can be no less significant. So it is clear, why people tend to want to support others going through the same experience they went through, or why they want to be around those who simply get them without needing a great deal of explanation. These are all perfectly valid reasons for researching further into a condition such as TS. 

And yet, beyond all of this, there also can be a strive for the advancement of science that serves no personal benefit whatsoever, an eagerness to unravel all the secrets life holds. Simple scientific curiosity. One example for a great source to learn some more theoretical genetics and get a starting point for further research is a very informative video I found on YouTube (https://www.youtube.com/watch?v=lqqC8TVsyJI&list=WL). In the second half of the video at least, the focus is not on the usual questions of: What do I have to expect health wise if I am dealing with TS? These type of questions are obviously important in the beginning, and especially some talks on the TSUS YouTube channel answer each and every practical question concerning TS very in depth. But at some point, you got all the answers you need- and you may find, that quite academic talks about TS can be equally interesting. Those topics cover a large spectrum of possible areas of interest. For example, researchers might be focusing on what genes cause specific symptoms of TS- which could lead to them gaining a better knowledge about what symptoms to expect with a certain partial deletion on the second X- chromosome, and what deletions or what degree of mosaicism to or not to diagnose as TS. Another interesting topic is X- inactivation, where one of the two X- chromosome in a typical female is inactivated so its genes are not expressed anymore. There is a certain degree of randomness involved in choosing that X- chromosome, but on the other hand, a diseased X-chromosome  nevertheless has a lower chance of being expressed. Of course, there are also genes that do not get inactivated (like the SHOX gene located on both X- and Y- chromosomes, of which anyone needs two expressed copies or else someone with e.g. TS will stay short and one's skeleton will show some characteristic features). These genes are on what is reffered to as "pseudoautosomal regions" of the X- chromosome- regions, that behave more like autosomes, because they escape inactivation. Furthermore, there are certain genes that are important in embryogenesis and only get inactivated later- which might for instance determine gender identity, cognitive strength and weaknesses, and patterns of thinking and behaviour even if someone is put on HRT in later life. It is clear, that the way one's brain works does partly get determined in utero by hormones that are or are not present- but to what degree? Stunningly, it might even make a difference to overall cardiovascular risk, whether someone with classic TS carries a paternal or maternal X- chromosome- So what exactly could be the important difference between those two chromosomes? Moreover, there is a wide variety of different karyotypes considered TS- isochromosome X, ring chromosome X, all kinds of deletions on the short or long arm of the X- chromosome, triple X- cells and  XY- cell lines in someone with mosaicism, and countless mosaic forms  as a combination of any of these. These different karyotypes  are at the present point in time more often than not poorly correlated to different health risks- and 45 X0 does not always seem to be the most "dangerous" karyotype to have. Is one's exact karyotype within TS really often not that important- or are we simply in a majority of cases not determining the "true" karyotypes by just testing one or two types of tissue? And besides, does it really matter which of those it is, if we are not able to know one's individual health risks for certain anyways?