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There is so much that the scientific endeavour is yet to understand. Our collective knowledge is still very much like a literal drop in the ocean, or a grain of sand in a mighty dune. Some would say that the field of genetics can be traced all the way back to the classical period, but its modern manifestation is still very much in its infancy. The thirteen year-long human genome project was completed only twenty years ago. Great strides in understanding have been made in the two decades since, but still we know hardly anything.

It is when you’re diagnosed with a condition that you tend to learn for the first time how limited our collective knowledge is. If you happen to be diagnosed with a cancer, then very soon you will have familiarised yourself with every piece of information you can lay your hands on. If a family member has been diagnosed with dementia, then you will soon be a lay expert, capable of describing its impact, if not the mechanisms which cause it.

Some conditions are pretty well understood by now, and as a result can be successfully treated. If you present to a hospital with hearing difficulties, an audiologist will be well-placed to explain how the ear works, and what measures can be taken to intervene to improve hearing. If you present with diabetes, your endocrinologist will be able to help you manage your condition, assisted by ample research into the causes and risk factors associated with the disease.

But not everything is so straight forward. Many conditions remain poorly understood, and under-researched, and therefore remain unsupported. The condition I have is widely described a rare genetic condition, although it is not uncommon at all. Recent studies have suggested that one in 500 boys are born with the condition. It is rare only in so much that it is rarely diagnosed. Rare, I suppose, in that it is not widely known about, let alone understood by most non-specialist health professionals.

The first time it was described in modern times was only in the 1940s, although the typical phenotype it was said to present is now largely considered inaccurate and inadequate. In fact, its clinical presentation is widely heterogeneous. Its association with an extra chromosome would not be identified until the late 1950s. Most of what is known about the condition comes directly from the description of men who had received a certain diagnosis. Indeed, the classic phenotype is really only based on the small number of affected patients who seek medical consultation, who most likely display the most apparent clinical features.

In the two decades since I was first diagnosed, there seems to have been an increased understanding of the effects of this condition, but only amongst specialists. Even then, the relationship between the clinical and genetic phenotype is still not completely understood. The gap between evidence-based research and clinical practice is startling, with few health professionals apparently aware of its manifestations other than in relation to fertility. Its impact on neurological and cognitive difficulties like language development and behavioural problems are still not widely appreciated.

Will future generations fare better? Undoubtedly, for that is the nature of the scientific endeavour. I have no doubt that as the number of children being conceived by parents at an older age increases, so it will be necessary to understand the impact of paternal age on the prevalence of this condition. If greater number of boys are identified with the condition prenatally, it will also be necessary for health professionals to implement wholistic packages of care to support boys through the milestones of childhood and adolescent development. In that sense, we can expect scientific research to be driven forward by the need for greater understanding.

On the other hand, I suspect that with increased pressure on healthcare budgets, it will remain an under-diagnosed condition for the foreseeable future. The obvious reason being that it is not a critical condition, likely to occupy a clinician’s concerns. It presents difficulties, which might nowadays be picked up by children’s integrated therapies anyway, but does not present a threat to life. In adolescence, severe manifestations of the condition might be picked up by a mental health professional or a family doctor. But generally speaking, it is a condition that can be managed by the individual — however uncomfortable or demoralising that may be.

For those with the condition, we have a few grains of sand with which to both understand our backstory and cope with management of its symptoms going forward. For me, those grains of sand help me make sense of aspects of my being which significantly bothered me throughout my youth: the language impairments, delayed motor development, memory problems, and general lethargy and weakness. They also provide justifications for continuing with treatment, however it pains me. This is the value of scientific research for the individual: its practical impact on our lives. There’s nothing abstract about the pursuit of knowledge.