Metamorphosis- Growing up with Turner Syndrome

9. Earlier diagnosis equals better outcome?- Medical biases

One of the hardest things to navigate when coming of age and living with TS is healthcare. Which doctor do you have to visit and how often? You might live in a country offering free public healthcare, or you might not, which would add a whole different layer of complexity to this question. Still, I think the thing with many of us is, that at some point we do not want to be patients any longer, after having endured up to eighteen years of frequent doctor's visits as a child and adolescent. Medical professionals tend to refer to this problem as being "lost to follow up"- transitioning from paediatric care to no care at all. Some of the physicians tend to sound slightly accusing when mentioning the problem, as if any person not reliably showing up at their clinic every six months would consequently be responsible for each and any health complication they go on to develop. But I get it, I really do. If you are feeling fine and have never had any health complaints your whole life, only a bunch of unpleasant tests and missed schooldays, as is the case for some of us, you might be sick of it eventually. The problem is- so many of the health complaints associated with Turners- hypothyroidism, hypertension, type two diabetes, stroke and ischemic heart disease (heart attacks)- become far more common as you age. They should better be caught as early as possible, and any modifiable risk factors need to be controlled, as well, in order to prevent them, or a possibly life threatening situation could easily result. In addition to that, the 20s and 30s, when you tend to feel especially healthy and invincible, are the time in which aortic dissections in the TS population peak (in contrast to the 50s and 60s in the general population). They are- always- a medical emergency, that could often be prevented. And while they are rare in absolute numbers even in the TS population, you will only have to join a TS facebook group to quickly get at least slightly uneasy about how devastating and relatively common they still are. Now, you might also be on the other side of the spectrum, far too worried about your health, although you are already doing everything you should- especially exercising, sleeping long enough and eating healthy food. You cannot change your genetic makeup, so pondering on those statistics will not do you any good. Generally, you will have to try find a healthy middle ground between anxiety and indifference about TS, which is one of the very hardest things to do. So far, everybody probably agrees.

Now I am moving on to the more controversial question: How much screening for TS and TS related health complaints should be done? For some doctors, there only seems to be one possible answer to that question: as much screening, as possible (and even many with TS agree)- Which is more often than not not the ideal way to go. If you want to hear a real cardiologist speaking about overdiagnosis and biases in medicine in general, I would highly recommend visiting the "Medlife Crisis" You Tube channel run by dr. Rohin Francis. What follows here are just some random thoughts of mine, starting with the point of diagnosis. 

Currently, the average age at diagnosis of TS  seems to be at about nine years of age, which many doctors on the internet claim is far too old. One might have to take into account the fact, that a significant number of girls is diagnosed at birth, so there will probably also be a considerable number of adults being diagnosed for the first time, which might or might not in some cases be dangerous for the health of these individuals. Still, could you imagine any child with an obvious, easily diagnosed, acutely life- threatening problem not being picked up on and treated in a developed country? Even, if the diagnosis of TS is missed, it does often not seem to make any difference in the treatment of e.g. ear infections or congenital heart conditions, which are by far the most common physical health complaints a child with TS might present to a doctor with. As far, as I am aware of, all the health complaints that are easily missed by a physician because they often do not cause any symptoms (bicuspid valve, hypertension...) do not typically lead to any issue that needs to be addressed until later in life. Diabetes and hypertension develop over the course of many years, and the dreaded dissection of the aorta does also not typically occur in adolescence, even in someone with TS. I might however be mistaken with my assumption, and diagnosing some of these conditions in childhood might after all have some potential benefit. Of course, starting growth hormone injections early, possibly even allowing girls to grow (close) to the average height of the general population, might be a huge factor for wanting to diagnose as early as possible, depending on personal choice. It is needless to say though, that the choice of administering growth hormone injections at around four years of age, maybe even younger, is not a no- brainer. Patients with TS and their families, not any random doctor, get to have an opinion on what the ideal age to start those injections and the extensive screenings coming with it would be. Because, in a way, all of this for the child sooner or later leads to the realization that there is something wrong about their body. As I have mentioned before, any potential treatment does come at a cost. At this point, someone might interject: "Well, if we recognise girls with TS early, we might also be able to address their learning issues, give them an IEP, remedial math lessons, psychological evaluation." I personally cringe when hearing someone make that statement, and here is why. As we have already established, I personally do not struggle at all in an academical setting, which is not true for all girls with TS (and also not true for a huge number of typical children), but certainly for a not insignificant percentage of them. So hypothetically- what might happen to a child with low self- esteem, if from day one, before anyone could possibly know what this child will be capable of, parents, kindergarten teachers, social workers, psychologists, school teachers all subconsciously treat her as mentally challenged? If she is registered as "disabled" before she can walk, has to attend five different types of therapy a day before even starting school, attends an "inclusive" elementary school together with mentally retardet students? -All of these things are not completely out of the norm, and, surely, in the worst case, the result could be a self- fulfilling prophecy. On a personal note, I might add, that, as I wrote before, all the people possibly interested in TS- therapists, special education teachers, many parents- in my experience might place a huge emphasis on social skills, not caring too much about academic skills. Even and especially if their sole aim is to help every child to " be happy" ( as I have seen before quite often, but I do not want to generalize). Even, if they do treat a girl with TS just like they would anybody else- I personally might still get the impression, that they are thinking I am stupid. I am aware of my less- than- ideal social skills, and I constantly feel like I have to make up for them by excelling academically, not simply by being as smart as everyone else. Maybe this is just me being overly sensitive, but on the other hand, being overly sensitive is quite common in TS. And there is simply no denying, that girls with TS on top of that commonly get infantilized because of their physical shortness, whether they are diagnosed, or not. So I know, that I personally would have not done well at all with psychologists and social workers back when I was younger. I know, that in most of the areas I struggle with, I have matured over time, by just living my life, and that I am forever grateful for those, who did treat me just like everybody else. But could they have done so, if I right from the very beginning had had a scary label put on me?