By Paul Willistein

pwillistein@tnonline.com

May is Ehlers Danlos Syndromes Awareness Month.

What is, or are, Ehlers Danlos Syndromes?

Good question. It’s a question I didn’t know I should be asking.

It was 1979. I had a cut on my right knee that wasn’t healing properly. Our family doctor, Dr. Lucian W. DiLeo, had retired. What to do?

I drove myself to the emergency ward at the then Allentown-Sacred Heart Hospital, now Lehigh Valley Hospital, Salisbury Township.

Dr. Indru T. Khubchandani, who was on duty in the emergency ward, stopped at the bed. Dr. Khubchandani is a colon and rectal surgeon in Allentown.

“Do you know you have this?” he asked, displaying a page from a medical reference book he was holding.

“Have what?” I replied.

“Ehlers Danlos Syndromes,” he answered.

It explained a lot about me physically: stretchy skin, ever-present bruises on my knees and elbows, and thin skin that gets cut easily.

If you see family photos from summer gatherings, I’m the boy with the elastic bandage wrapped around a knee or elbow.

I was a bit of a daredevil: hanging 10 on my Hobie skateboard on streets, popping wheelies and riding off makeshift wooden ramps on my monkey handlebar and banana-seat customized Murray bicycle, foot-steering hand-built wooden soapbox racers down hills of country roads and zooming around on a Briggs & Stratton engine-powered go-cart with racing slicks.

At Southern Lehigh junior high school (now the middle school) and high school, I was in gym class wrestling, intramural basketball and on the cross-country team for two years, running 26.5 miles in practice and races. I played snare drum and cymbals in the Spartan band, marching in Halloween parades and the Philadelphia Thanksgiving Day Parade.

When I worked for two previous newspapers, I drove in two Allentown Fair demolition derbies, winning judge’s choice in a qualifying heat for the feature contest the second time I entered.

These were activities someone with a birth defect of Ehlers should probably not have done. I was undiagnosed, though.

After I was diagnosed with Ehlers at age 29, my mother was emphatic: “Oh, no. You don’t have that.”

Her reaction wasn’t surprising. Ehlers Danlos Syndromes was, and is not well known. Until 1997, it included 10 types of genetic connective-tissue disorders. In 2018, a 14th type was discovered.

Ehlers symptoms are loose joints, joint pain, stretchy velvety skin and abnormal scar formation. Complications include aortic dissection, joint dislocations, scoliosis, chronic pain and early osteoarthritis.

Misdiagnoses include hypochondriasis, depression and chronic fatigue syndrome.

Ehlers occurs with variations of more than 19 genes present at birth. The variations result in defects in collagen.

There is no known cure for Ehlers. Physical therapy and braces can strengthen muscles and support joints. Some forms of Ehlers result in a normal life expectancy. Those that affect blood vessels can decrease it.

The hypermobile type of Ehlers affects one in 5,000 people globally.

Excess mobility was described by Hippocrates in 400 BC.

Ehlers is named after the physicians Edvard Ehlers and Henri-Alexandre Danlos, who described the syndromes at the turn of the 20th century.

Dr. Bruce Alan Ellsweig, the doctor whose patient I became at Lehigh Valley Health Network, asked me if he could bring an intern in to see my Ehlers symptoms during a routine medical checkup. I agreed.

Ellsweig is a hospice and palliative care specialist, Hospice and Palliative Medicine, in Allentown. I am now a patient of Dr. Darryl D. Gaines at LVHN.

Years ago, I called an Ehlers Danlos support group. The person, based in Bucks County, with whom I spoke sounded as if she was using an electronic voice box. She apparently had a severe type of Ehlers. On Facebook, I friended a singer-songwriter, who has Ehlers. She’s had back and neck surgery and uses a chair to assist her mobility.

Learning more about Ehlers freaked me out. I could have bleeding stomach ulcers, develop a hole in my heart and my diaphragm could flip up and I could choke to death.

Fortunately, I seem to have Classical EDS (formerly Type 1), characterized by extremely elastic skin that is fragile and bruises easily, and hypermobility of the joints.

In the vernacular, I am the India-rubber Man. I joke that my fallback career is running away to join the circus.

Sideshow performers have Ehlers as do contortionists. Daniel Browning Smith, who has hypermobile Ehlers, has the Guinness World Record for the most flexible man (as of 2018).

Virtuoso Niccolò Paganini may have had a form of Ehlers since he played wider fingerings than most violinists.

Contemporary celebrities who have Ehlers include actress Jameela Jamil, writer and actress Lena Dunham, Australian pop star Sia and Miss America 2020 Camille Schrier.

My approach has mostly been to let a sleeping malady lie. And yet it’s a lie to not talk about it or write about Ehlers.

In recent years, I have followed Ehlers Danlos Syndromes Society on Instagram. Those with Ehlers are urged to let people know they have it. Hence, this column, the first I have written for the opinion page in the some 19 years I have been at Lehigh Valley Press.

People with Ehlers identify themselves symbolically as zebras. This is because medical students have been taught, “When you hear hoof beats behind you, don’t expect to see a zebra.” The zebra was chosen as a symbol because those with Ehlers are said to be “the unexpected.”

Ehlers was certainly unexpected for me. I will be 72 on May 17. By definition, I am handicapped.

I have an application for a handicapped parking placard, but haven’t as yet filed for it at the Pennsylvania Department of Transportation Driver License Center, Whitehall.

I maintain a balanced diet, exercise and am in reasonably good physical health. I probably have the same number of aches and pains as most at my age.

I have learned to live with Ehlers. I switched to my left hand to use the computer mouse because my right thumb is bent and stuck, possibly from 50-plus years as a newspaper journalist, starting at age 17, banging the manual typewriter, then the electric and now the computer keys.

As you read this, I am grateful I can still type to help get the word out about Ehlers Danlos Syndromes.

More information can be found at ehlers-danlos.com or at instagram.com/ehlers.danlos.

***

Paul Willistein is Focus editor of Lehigh Valley Press and covers Salisbury Township municipal meetings for Salisbury Press, and Northampton Area School District board of education meetings for Northampton Press.