Rhonda Scott suffers from a rare and debilitating, yet largely unknown, condition called Ehlers-Danlos Syndrome (EDS). This inherited disease affects a person’s connective tissue, collagen. Not only is it inherited, but it can increase in severity in each successive generation. Rhonda’s daughters Abigail, 10, and Amber, 18, also have EDS.
Ehlers-Danlos affects connective tissue, a part of joints, skin, and the walls of blood vessels. Joints can overextend and even dislocate due to an inability to snap back into position. Skin is excessively elastic and fragile, with the mildest of contact causing bruising or scratches. Weaknesses in blood vessels can cause ruptures, causing stroke and internal bleeding.
Persons with this condition experience extreme exhaustion, low energy and serious pain. Pain management is a major focus for treatment. There is no cure for EDS. The syndrome is often overlooked by doctors as an option for people suffering from symptoms and diagnosis is difficult.
For the Scott family, it took six years to put a name to their pain. Youngest daughter Abigail suffered from debilitating pain from the age of 3. At times the pain was so severe she “would be laying on the floor crying,” said Rhonda. “I knew something was wrong and I wasn’t going to give up.”
After six years of visits with various specialists, it was research done by two therapists at McMinnville Physical Therapy, Beth Cowan and Zach Sutton, that suggested Ehlers-Danlos as a possibility. A visit to a geneticist at Vanderbilt confirmed their suspicions.
Because EDS is inherited, Scott and her older daughter, Amber, were tested and both were positive for the syndrome. All three of the Scotts have Type Three EDS, which is hypermobility.
Abigail shows the most severe symptoms and has been limited in her activities. Sports and gymnastics are too dangerous to risk.
She has been able to attend dance classes but must take special care not to overwork. Missed school due to severe pain and continuous doctor appointments have led to her being homeschooled. The pain is often debilitating. “I’m a kid. I can’t handle it,” said Abigail.
Rhonda and Abigail both regularly visit five kinds of physicians. They each see specialists for gastrointestinal, pain management, cardiology, neurology, and orthopedics. Both also undergo physical therapy in an attempt to build muscle strength.
Rhonda has been diagnosed with fibromyalgia, chronic fatigue syndrome, and Postural Orthostatic Tachycardia Syndrome, which causes an increase in heart rate when standing. She wears a heart monitor and, along with Abigail, has to have an echocardiogram yearly.