folio

The present is the first time since my early childhood that I have been content with my face. Ramadan losses excepted, it has filled out, my cheek bones no longer so pronounced, my face fatter and more proportioned, my skin aged. Most people spend their lives seeking the elixir of eternal youth; I spent mine attempting to counteract it. I have photos of myself at the end of a Masters degree programme, aged 23, still looking about seventeen.

The present is also the first time since diagnosis nearly two decades ago that I find myself finally able to write about the chromosome disorder I’ve apparently been gifted and explore what it means to me. You will note that I always refer to it as the condition and never by its given name. That’s because there is a lot of misinformation about it in the public domain. Worse than that, there’s a lot of plain bullshit published about it by people pushing certain agendas. But, more to the point, I still consider it a humiliating diagnosis, much compounded by the former.

Still, I find myself more able to talk about it, in generic terms, eighteen years on. Perhaps that’s because my audience has dwindled to such insignificant numbers that I no longer have to worry that somebody who knows me might read it. Or perhaps because I have been blessed (or cursed) with the opportunity to look back on my youth in an attempt to make sense of all that happened then. I mention my youth (30 years ago) and the early years of marriage (20 years ago) a lot because those were the periods I was most impacted by this condition.

Not much was known about the condition by any of the health professionals I ever encountered, apart from an excellent endocrinologist at Imperial College, who oversaw my initial interventions. The locum who first delivered the diagnosis was cold and matter-of-fact about it, delivering the blow as if reading from a script on his computer monitor (well, he was).

I kept up with my endocrinologist for the first few years after moving out of London because I found him supportive — and, well, just so nice — but ended up being transferred to my local hospital trust. This I regret because the annual review simply became an opportunity to spend just long enough in a waiting room to pay the extortionate car parking fees, only to be told my levels were a bit low. In the end, I was discharged back to the care of my GP, who was more than capable of interpreting the findings of my blood tests. And that was that: very mechanical.

Treatment of symptoms of the condition focusses squarely on developing strength and increased energy levels. Nobody thinks of treating the diagnosis holistically. Nobody seems to give a thought to thinking about how this condition may have manifested and impacted the individual in their formative years. Of course, I am talking here about diagnosis as an adult; reading research literature, it seems that is changing for early diagnosis, although the slant is towards the US and Australia.

Personally, I feel that I have never had the support of anyone regarding the long-term implications of the condition, except from my wife, who is my rock. I don’t feel my diagnosis was ever adequately acknowledged by my parents or wider family — although, in their defence, public information about the condition was very limited twenty years ago. It seemed to be something best brushed under the carpet and ignored. Indeed, that was probably my approach too, treating it simply as an innate aspect of my physiology that I just had to learn to manage with injections every quarter for the rest of my life.

I have been busy for the past decade, our lives entirely absorbed raising children and by a developing career. The past ten years seem to have zipped past us. Only the pandemic seemed to bring about a pause for thought. Like many people impacted by the restrictions on personal freedoms and the stresses caused by the government’s botched interventions, my mental health has plummeted over this period. It was made worse still, I suppose, by my neglect of treatments of the symptoms of my condition. I had my own — not very well-founded — reasons for that, but admit is was probably a mistake.

My heavy gloom and melancholic blues over this period though has had me looking back onto all that brought me to this juncture — bored IT consultant stuck in a rut — and to start making sense of poor decisions in the light of this condition. Of course, others would say everyone makes poor decisions, but I see an accumulation of factors which mostly seem to converge into my state of being.

I suppose we are blessed at this juncture of history that the scientific and medical fraternity seem to have embraced the model of open access to journals, making research papers accessible to the common man, rather than being locked away behind paywalls to be viewed only by cloistered academics. For me, this is a godsend, finally being able to make sense of the developmental and psychological impacts of the condition on the individual.

Now I can’t say whether the condition has a direct impact on psychology, or if the burden of living with an undiagnosed condition, feeling different and often being bullied as a result of it just causes emotional strains — but I can say that much I have read about in the literature describes my experience growing up. I have written a lot recently about my bitterness at my diagnosis throughout my youth being that I was simply lazy. That may have been a partial diagnosis, because boys generally are, but in modern times a child consistently exhibiting delays in developmental milestones would likely receive therapeutic interventions.

Even as an adult, I feel my life acutely impacted my those formative experiences. I continue to have a major deficit in confidence, which holds me back in many settings, both socially and in terms of career progression. I’m also not sure that I behave appropriately in social settings when meeting and encountering new people, which is why I have largely withdrawn from social spaces. I acknowledge that at times I remain socially anxious, although this much depends on a variety of factors. It’s not that I’m anti-social recluse, although I jokingly call myself this, but my shy personality does continue to hamper me in many settings.

As I have mentioned before, I feel that my faith is my major coping mechanism. My preferred mode of communication is writing, as evidenced by this blog. Experiences of rejection in my youth have made me very loyal to those I care about. I remain very sensitive, but I see this manifesting in positive traits such as being caring, kind and empathetic. But I am also impulsive, which can result in the complete reverse.

Body image remains a significant problem, with muscle mass and tone poorly developed, although as I have said, I am growing content with my face. Body image, I feel, continues to contribute to feelings of paranoia. In social settings, I often feel that people are winking at one another at my expense and mocking me; yet another reason I withdraw. Significant exercise I find impacted by my painful bones, so running is replaced by a regular walk. And my perpetual slouch: well perhaps this is one I just have to work on.

Looking back on all that I have written over the past twenty years, prior to the past few months I think I only wrote about this condition once — again very generically — in its impact on having children. For most of this period I have been preoccupied with matters of the heart and questions of faith. These in themselves may have been intimately tied to the condition, but I was never able to draw those parallels. Now I see just how significant it was on my developing psychology and the subsequent direction my life took.

My faith certainly has been my refuge. Indeed, without my faith, I don’t think I would ever have been able to find a companion as supportive as my wife — and for that I feel very blessed. And without the lessons of faith — the Quran recounts stories of men who could not have children and who faced great tests amongst their people — I think I would have struggled to come to terms with this reality. I fear that without this structured framework by which to live my life — this path towards achieving a state of safety and good health — I may have succumbed to addictive coping mechanisms. So here, gratitude aplenty.

My faith and this condition are the two factors that most define my life; perhaps they are mutually complementary. Perhaps there is no one without the other. Maturity is finding the confidence to embrace both, without being shy of the opinions of others. Perhaps that is why I have recently started talking about them more frankly. In the end, we just have to embrace what we are, regardless of what others think. This is what we are.