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Ehlers-Danlos Syndrome
Williamsville resident. Doctors thought she might have a perforated ulcer but ultimately discovered her colon had ruptured and developed gangrene. Her lung collapsed during surgery, and her family members - including her husband of a year and a half - were told she wasn't expected to survive. DeWein, who is now 43, did live, but she spent about a month in the Intensive Care Unit and about seven months in the hospital, during which time she had 12 surgical procedures. "They still had no idea what caused the perforation," she said. Eventually she was diagnosed with the vascular type of Ehlers-Danlos Syndrome, an incurable genetic disorder. EDS affects connective tissue, mainly collagen, she said. Those with the vascular type have fragile arteries, intestines and other organs. Although DeWein said her diagnosis was "devastating," her involvement with the Western New York Branch of the Ehlers-Danlos National Foundation has given her life purpose. "It's been a place to go, not only to find out information, but also to share with other people. It gives me a reason to get up in the morning," she said. The support group meets to offer time to share with others, informational speakers and sometimes entertainment, including Christmas parties. The meetings attract 12 to 20 attendees, and about 40 people are on the group's mailing list, she said. "It's helpful that there are other people who can understand what you're going through," she said. Judy King, another member of the WNY branch who also has vascular EDS, said the support is helpful because others may not realize the challenges of the disease. "Very often, many of us look pretty healthy, but the condition really limits what you're able to do at times. That's the most difficult part for me," she said. "The average person may not understand." There are six types of EDS, including the three most common: hypermobile, classic and vascular. Classic EDS causes people to have abnormally stretchy skin that is easily bruised and torn. The hypermobility variety is characterized by joints that dislocate easily. DeWein said the syndrome is rare - affecting an estimated one in 5,000 people, according to information from the Ehlers-Danlos National Foundation. It can also be mistaken for other health problems, including Crohn's disease. "It's very difficult to diagnose because the symptoms vary so much. You can't put everyone in one box and say this is what this is," she said. Some with EDS have been circus performers, using their unusual flexibility and other symptoms of their EDS. However, that can cause physical damage. "There's just such a misconception with those who have heard little about it. The first thing is 'Can you pop this or that out?'" said DeWein, who has some symptoms of joint instability. DeWein now receives nutrition intravenously because surgery left her with no colon and only three feet of small intestine. "I've been told this is the minimum required to sustain life," she said. She still eats, although her body only absorbs calories, not nutrients from food. One issue she and others with EDS face is the challenge of making medical professionals aware of the needs of patients with EDS. "EDS is not a well-known or understood disorder, even throughout the medical community," she said. DeWein has continued to experience medical problems connected to EDS, including dissections of her arteries. When she goes to receive medical treatment, she brings her medical history and information on the syndrome. "Really, you have to be your own advocate," she said. "A simple procedure for one person is not a simple procedure for me." Even drawing blood can be complicated because her blood vessels are weak. King said the WNY EDS branch has been working to educate school nurses and coaches, as well as medical professionals, about the disorder. "We wanted to really reach the schools so they learn about the problem," she said. For information on the branch or EDS, call 201-8389 or e-mail wnybranch.ednf@yahoo.com. Symptoms of EDS
People with EDS will have some of the following symptoms, ranging between mild and severe. Joint and skin issues are more common with hypermobility and classic EDS, respectively. Some symptoms do overlap between types. |
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