Nothing is Written

Rick Rader, MD, FAAIDD, FAADM - Editor in Chief

1,500-year-old bones believed to be the oldest confirmed case of Down syndrome in the world. Photo credit: Rivollat et al./Elsevier

Going DOWN in History

When I was a medical student in London, my genetics professor held classes in the London Underground. After all it was the epicenter of “The Commonwealth.”

The Commonwealth of Nations (the former name) was a 54-member humanitarian coalition of countries under the British Empire. Included in this portfolio was Canada, Australia, New Zealand, Tonga, Fiji, Western Samoa, India, Burma, Papua New Guinea, Malay, Sarawak, Brunei, Oman, Iraq, Egypt, Libya, Sudan, Kenya, Uganda, Northern and Southern Rhodesia, Tanganyika, Zanzibar, Mauritius, the Maldives, South Africa, Nigeria, Gold Coast, and Sierra Leone, among other countries during its reign.

London had an abundance of both residents and visitors from each of these countries. The London Underground (subway) was a genetics supermarket. Our professor would take us into “the Tube” to observe those individuals that had recognizable facial features reflective of a variety of genetic disorders.

It would play out this way, with him saying, “Mr. Rader, third person on the left sitting next to the OAP carrying the tote from Harrod’s.” I quickly learned that OAP referred to an Old Age Pensioner.

Figuring it was better to offer something even if it was incorrect than to sit dumbfounded, I offered, “Might it be Noonan syndrome, Professor?” It was another case of me crashing and burning as we pulled into the Edgware Road station. My professor reminded me that the characteristic facial features of Noonan syndrome included a deep groove between the nose and the mouth, as well as widely-spaced eyes that are often a pale blue or blue-green color. Other unique features included low-set ears that may be positioned backward, a high arch in the mouth, smaller lower jaw, and excess neck skin and webbing.

My teacher was a walking encyclopedia and seemed to have a handful of neurons dedicated to cataloging most of the 7,000 known genetic disorders.

“I can see where you might have made that mistake, Mr. Rader, but you should at least have included Ablepharon-Macrostomia syndrome in your short list.” “Yes Professor,” I thought to myself, that was going to be my next guess.

Every night during the three-week rotation I studied photos and took notes on their descriptions from “the Bible.”

Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology, as well as recognizable disorders of unknown cause. In short order I had more yellow highlights than not. I had bookmarks on both microdeletions and microduplication syndromes. I consistently confused Lenz Microphthalmmia syndrome for Mowart-Wilson syndrome (“How could I?”). Finally, it dawned on me that even the distinguished Kaufman-McKusick syndrome looked more and more like Wiedeman Rautenstrauch syndrome (so much for my future in genetics).

There was never a trip to London’s Underground Genetics Tour where we

didn’t encounter an individual with Down syndrome. They were so recognizable that the Professor never asked us to identify the condition.

Down syndrome was first described by an English physician, John Langdon Down, in 1862. He used the term “mongoloid” to describe the condition, due to his opinion that children with Down’s syndrome shared similar physical features to people from the Blumenbach’s Mongolian race.

Down went on to describe his observations, “A very large number of congenital idiots are typical Mongols. So marked is this that, when placed side by side, it is difficult to believe the specimens compared are not children of the same parents. The number of idiots who arrange themselves around the Mongolian type is so great, and they present such a close resemblance to one another in mental power, I shall describe an idiot member of this racial division, selected from the large number that have fallen under my observation.”

A case study published in the International Journal of Paleopathology showed photos of a skeleton buried near a church in Charlon-sur-Saone in eastern France. The remains feature a broad skull with flattened base and thinner skull bones, all telltale signs of Down syndrome. It is believed to be the oldest confirmed case of Down syndrome in the world. The 1,500-year-old skeleton serves to not only reference the longstanding existence of the disorder, but perhaps more important, how ancient civilizations viewed those with genetic disorders.

Lead researcher of the study, Maite Rivollat, commented that based on conditions related to its burial, it did not appear to be stigmatized by the community. “This Down syndrome child was not treated differently at death than others in the community. We interpret this as meaning that the child was maybe not stigmatized during life, the first- time a Down syndrome individual has been so viewed in the context of the ancient community.” This observation is perhaps the most significant one related to the findings of the skeleton.

While my genetics rotation in the London Underground exposed me to a vast repertoire of human exceptionalities, we did not discuss how society embraced, responded to, or included them. My own observation based on the body language of fellow passengers was they were keeping their distance, keeping their heads in newspapers, viewing their fingernails, and perhaps getting off the train before their preferred stop.

And while it was not the intention of the Underground Genetics Class,

I learned more about human indignation, stigmatization and indifference than I learned about linkage disequilibrium mapping. I did not like what I learned.

There’s a lot to be learned from history and if the findings of the 1,500-year-old skeleton with Down syndrome accurately reflects a promise in the human capacity for tolerance, acceptance and inclusion than we need to “go

Down in history.”

WHY HELEN?

Alone we can do so little; together we can do so much.

- Helen Keller

HELEN: The Journal of Human Exceptionality pays tribute to Helen Keller. Ms. Keller is perhaps the most iconic disability rights advocate and an example of how an individual with complex disabilities found and used her stamina, perseverance, resilience and determination to accomplish great things.

Helen personifies the spirit, mission and vision of The Journal of Human Exceptionality. Her remarkable life is a reflection of her determination; she inspired us with her words, “What I’m looking for is not out there, it is in me.”

“Nothing is written.”

This quote from T.E. Lawrence implies that nothing is inevitable, life consists of choices, and how the individual can make an impact on his/her destiny. The disability community continues to reinforce and remind me of this; hence the name for my monthly musings. - Dr. Rick Rader

Collaborative Organization Mission Statements

Helen: The Journal of Exceptionality is proud to be endorsed by the nation’s leading organizations that advocate for people with Intellectual and Developmental Disabilities (IDD).

The AADMD is resolved:

To assist in reforming the current system of healthcare so that no person with IDD is left without access to quality health services.

To prepare clinicians to face the unique challenges in caring for people with IDD.

To provide curriculum to newly established IDD training programs in professional schools across the nation.

To increase the body and quality of patient-centered research regarding those with IDD and to involve parents and caregivers in this process.

To create a forum in which healthcare professionals, families and caregivers may exchange experiences and ideas with regard to caring for patients with IDD.

To disseminate specialized information to families in language that is easy to understand.

To establish alliances between visionary advocacy and healthcare organizations for the primary purpose of achieving better healthcare.

It is the purpose of the American Academy of Developmental Dentistry (AADD) to establish postdoctoral curriculum standards for training dental clinicians in the care of patients with IDD, to establish clinical and didactic training materials and programs to promulgate these standards, and through its certifying entity – the American Board of Developmental Dentistry – to grant board-certification to those dentists who have successfully completed these training programs.

The American Academy of Developmental Medicine (AADM) is a medical society dedicated to addressing the complex medical needs of individuals with intellectual and developmental disabilities across the lifespan. It incorporates clinician training and awareness, teaching, advocacy, research, board certification, health equity, interdisciplinary collaboration, inclusive care delivery models and shared decision making.

AAHD is dedicated to ensuring health equity for children and adults with disabilities through policy, research, education and dissemination at the federal, state and community level. AAHD strives to advance health promotion and wellness initiatives for people with disabilities. AAHD’s goal are to reduce health disparities between people with disabilities and the general population, and to support full community inclusion and accessibility.