Plano family advocates to raise awareness for genetic disease

By Kim Nguyen, Staff writer, Star Community Newspapers (May 14, 2009)

Two years ago, the Darwin family was desperate to find information and medical treatment for Ehlers-Danlos syndrome. Now, instead of trying to find it, the family is advocating and supplying it.

The month of May is designated as Ehlers-Danlos Syndrome Awareness Month by the Ehlers-Danlos National Foundation (EDNF) and the Darwin family is doing all they can to work with other parents across the country and raise awareness.

“The foundation made an announcement in 2006 and we have been trying to contact state politicians for a formal proclamation recognizing the month,” said Michele Darwin, family matriarch. “It’s not super time-sensitive, because we’d really like to raise awareness every month.”

EDS is a debilitating and potentially fatal disorder that affects the body’s connective tissue, which holds and supports tendons, muscles, joints and bones. Individuals with EDS have a defect in collagen proteins, disrupting their ability to act like a “glue” in the body and add strength and elasticity to connective tissue. It has been estimated that 1 in 5,000 people suffer from the condition.

The three Darwin children -- Nikki, 20; John, 18; and Peter, 13 -- have been diagnosed with EDS, and since the initial diagnosis, Darwin has devoted all her spare time to be as involved with EDNF to spread awareness about the genetic disease.

Aside from countless hours of speaking engagements and educational seminars around the Dallas-Fort Worth area, and the opportunity to be a guest speaker for a national radio show, the Darwins have collectively raised more than $10,000 toward raising EDS awareness and aren’t stopping anytime soon.

“A really great thing came out of Nikki’s portion of the fundraiser,” Darwin said. “An information sheet, called the Pediatric One-Sheet, was created and distributed to doctors across the country.”

The Pediatric One-Sheet contains information about the physical characteristics of EDS to help doctors identify the red-flagged symptoms in patients.

Through the National Honor Society at John Paul II High School, John helped raise about $500 with the Change for Change for Ehlers-Danlos Syndrome fundraiser. For one week, students and staff were encouraged to donate spare change. An anonymous donor at the Foundation provided an additional boost in morale by matching the funds raised by the student group. In exchange, donors were given a small zebra-print ribbon.

“EDS is what doctors call a medical zebra condition,” Darwin said, referring to the aphorism, “When you hear hoof beats, think horses, not zebras.”

Medical zebra is a term used to describe an obscure and unlikely diagnosis from ordinary symptoms.

“Sometimes you do have to think zebras, especially when you have something as unique as EDS,” she said.

Darwin said that Peter, the youngest, is still learning and trying to find more opportunities to spread information to the community, like focusing on the disease for science fair projects.

“I am proud of my kids and everything they’ve done to raise awareness,” she said. “All three are very mature and have grown so much through the process.”

Darwin said that the family has grown to be closer than ever, after rallying to overcome the unknown together. And even though the cause and cure of EDS are still shrouded in secrecy, she knows that her family can overcome the unknown.

“We’ve come a long way since Nikki’s diagnosis; to finally put a name on something even though we hadn’t heard of it before,” she said. “We finally know what’s going on, but just because we know, doesn’t mean that local doctors know how to treat it.”

Darwin said that EDS awareness is slowly but surely gaining steam as individuals across the country pledge to help.

In February, the Colgate University football team participated with Uplifting Athletes to highlight EDS after hearing that the quarterback’s sister had been diagnosed with the genetic disease.

“It makes me feel more and more excited knowing that one more opportunity was taken [by a person or group] to raise awareness,” she said.

Darwin said some states, including Maine, Illinois and Florida, have already recognized EDS Awareness Month with formal proclamations and hopes Texas joins the list soon. Whether it is sooner or later, Darwin said the official proclamation will give the EDS National Foundation that extra boost to put EDS in the national limelight.

“Personally, I will measure success when phone calls asking, ‘What’s wrong with me?’ stop coming,” Darwin said. “I hope that one day, doctors will be able to recognize the symptoms and physical symptoms early, before the problems start.”