A common condition

There’s a new report out which suggests that the chromosome disorder I have been bestowed with is much more common than previously thought. That being the case, healthcare professionals ought to get much better at diagnosing and supporting those afflicted with its symptoms.

Reading much of the research literature now freely available online, it is heartbreaking that many men diagnosed with the condition report having the exact same life experience as I have had.

From parents worried about missed developmental milestones being told there is nothing wrong with their son — they’re just a bit slow — to parents themselves concluding that he is simply extremely lazy and then inculcating this narrative for the duration of his youth.

In addition to this, those diagnosed recall the extremely insensitive and unsupportive manner in which the news is delivered by healthcare professionals, which was exactly my experience. GPs will commonly tell men that they don’t know much about the condition and will advise patients to google it, rather than educating themselves in order to deliver care.

If they get any support at all, it will only be from an endocrinologist and the practice nurse who delivers injections every three months. There is no holistic care available. And raise issues associated with the condition at your peril, for by now you probably know more than your GP.

In all of the literature, for example, bone weakness is a symptom often associated with the condition, but you would not know it when seeing your doctor. I started experiencing pain when I took up running. The doctor ordered blood tests, discovered I had very low vitamin D and prescribed supplements.

I now experience great pain merely walking or doing the gardening. Clearly this is not normal, but ask a GP to investigate possible osteoporosis and they will respond that this is a condition which affects old ladies. True, but it is also highlighted in all the literature as a risk for men with this condition.

Universally, those diagnosed highlight the psychosocial aspects of living with the condition, from communication difficulties to problems with socialisation to depression and anxiety. That’s not to mention the bullying that often occurs due to perceptions of difference and their passivity. The self-esteem issues resulting from these experiences is long-lasting and all-pervasive.

I know for certain that without the support of a loving and caring wife, and my faith, I would have really struggled with this diagnosis. I cannot really explain to others the impact it has had on my life. By the time I received my diagnosis in my late twenties, I had imbibed all other possible explanations as to why I was how I was.

Basically, I’m lazy, immature and downright weird, and later fell prey to bad influences and extremism. I have never explored the impact of this condition with my family, because by the time I received my diagnosis, I had married and gone my own way. I do feel very blessed to have a good woman at my side, who has supported me through thick and thin.

If the chromosome disorder really is as prevalent as the new research indicates, healthcare professionals really should up their game in familiarising themselves with the condition in order to better support those living with its impacts. Hopefully, future generations will have a better experience than ours did.

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