Aubrey Milunsky
The leaden skies shared their burden via a steady drizzle compounded by fog. As I trudged through the mushy lawn, I anxiously aligned my thoughts in preparation for my coming role. I was a freshly minted physician six-years- years-post-graduation, and newly “board certified” in both pediatrics and internal medicine by the Royal College of Physicians.
It was the winter of 1966. I worked at the Queen Mary’s Children’s Hospital in London, which had about 760 beds, half being residential wards for the intellectually disabled or physically handicapped. My duties were to consult in a ward that housed about 30 teenage boys, all with a diagnosis of Duchenne muscular dystrophy [DMD] and all wheelchair-bound. It was a typical English ward where, on entry, one could see all 30 beds at once.
That day, there was a curtain around Ian’s bed. He had died peacefully in his sleep in the early hours of that morning, days before his 18th birthday. My role was to confirm the obvious and call his single mother. I was young then and on a steep learning curve [on which I continue to reside]. This was a challenging call, painfully sad, to a mother with no other children and no partner. She had, however, been aware of Ian’s perilous state of health and his anticipated death. This was indeed the fate that awaited all the boys in that ward.
Boys with DMD all became wheelchair-bound by the age of 12, due to the muscle weakness. Virtually all died by 20 years of age. The cause was a mutation in a gene on one female [X] chromosome.
As I stood witness to this sadness, Ian was placed on a gurney, covered, and wheeled out. A stony silence enveloped the ward as every boy stared at the exiting gurney. Wiping away my own tears, I thought: how could this awful disorder be avoided or prevented. That thought set in motion what would become a major part of my future academic career.
Shortly thereafter, we set off to Boston. My mind remained preoccupied with thoughts about avoiding or preventing genetic disorders. At that time it had become possible to grow cells from the amniotic fluid and analyze their chromosome complement. I recognized then that an avenue with potential to achieving my goal had opened.
I trained at the Massachusetts General Hospital/Harvard Medical School, and in 1969/1970 opened the second prenatal genetic diagnostic laboratory in the US. In 1973, I published the first book ever written on prenatal genetic diagnosis and went on to write and edit multiple editions, later joined by my son Jeff, [professor of Pediatrics, Genetics, and Genomics]. In 2021, the 8th edition, entitled Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment [1400 pages] was published and is the world’s reference text on this subject.
The grief Ian’s mother and so many other parents have endured due to serious and fatal genetic disorders can now for many be avoided and prevented. While the clouds have lifted for many genetic disorders, the hopeful journey for avoidance and prevention continues.