And The Rest, As they say, is history ....
When I was little I lived in a small town in southern Sweden. Every Sunday I saw marches of unusual looking children walking hand in hand in the street outside our house. My mother told me that they lived all together, because their parents had found it difficult to look after them. She also said that sometimes it could happen that there was more than one child in a family with similar problems.
I was hooked and years later decided to study Psychology and Education at the University of Stockholm to learn more about what could cause such problems and how they could be overcome. I took my exams, but was disappointed not finding any real answers to my questions. Genetics I thought then might be a better bet. This also turned out to be frustrating, not least because formalities at the time dictated that courses in Genetics were only open to students who had spent several years studying Zoology and Botany and who had also passed an entrance exam. Luckily I managed to strike a deal with the Professor to the effect that if against all odds, I would be ranking no 1 in the Genetics Entrance Exam, he would accept me regardless. This was hard work, but it did work. I found the Genetics course fascinating, yet disappointing, primarily because the curriculum mostly concerned bacteria, fruitflies and plants and statistics, hardly anything that could explain learning disabilities in children.
In my final year I had to do a special project, taking a couple of months. I was offered a number of projects (17 in total) pushing around and counting different types of fruitflies under a dissecting microscope. I declined them all, and said I should like to look at human chromosomes. This turned out to be a decisive turning point. It was arranged for me to be supervised by a Professor Levan, who had been looking at mouse chromosomes, particularly in tumours. (As it happened this was in the same small town in southern Sweden, where I had grown up). I was given a project, studying the effects of radiation treatment on mouse tumours But, lo and behold, I later found out that work on human chromosomes was actually going on in the same Department!
The night before Christmas Eve in 1955 I was offered to peer down the microscope to look at beautiful spreads of human chromosomes. This was the first time human chromosomes could be correctly counted and proper photographs taken. It is a truism to say that I can remember it as if it was yesterday- the stinging smell of the chromosome stain (Acetic Orcein) blending together with that of Turkish coffee made by the visiting scientist, Joe Hin Tjio, who had produced the chromosome preparations, squashing the cells between two pieces of glass making his thumbs bright red also. Sitting on a high laboratory stool I was drumming my legs against the bench in excitement, while pointing out to Dr Tjio that it could now be possible to find out if some people with learning disabilities may have chromosome abnormalities such as trisomies, monosomies, translocations, insertions, inversions, rings, duplications and deletions, previously only seen in fruitflies and plants, as if he would not have realised this by himself.
I decided on the spot to study medicine, hoping that Medical Genetics would one day become a discipline, where the study of chromosomes would be very important.
All this was now more than 40 years ago. I have worked with chromosomes and genetic counselling ever since. One of the challenges I faced was to convince Edna Knight to take me on board as Medical Advisor to the Rare Chromosome Disorder Support Group. I am glad she eventually did around 15 years ago. I should add that my brother has had a child with a Chromosome Disorder, a deletion of the long arm of chromosome 8. He and my sister-in-law have not had the benefit of a Support Group. My vision is that the organization Unique one day will be renowned not only for the help the Group provides to families in the UK (and some other countries already) but also for the powerful stimulus it has meant for the creation of similar Groups in many, many other countries.
As far as I am aware Rare Chromosome Disorders are equally common among all races and all different parts of the world. So, in this respect we are not Unique! I also nourish a dream that never again should a doctor turn around to parents saying- “Your child has got a very rare Chromosome Disorder. I am afraid I know nothing about it!” As I am sure many parents have, I have found this very off putting. It should of course not have happened in the past, and let us hope the mission of Unique will imply this type of ignorance becomes increasingly rare in the future.