Kristin Means has always been flexible. As a child, she had frequent aches and pains, often from sports injuries. Her mom knew something wasn't right. At the age of 19, she had to give up college softball. She began a 10-year quest to find a doctor who could give her the correct diagnosis and appropriate treatment. You can see her tell her story in her own words at http://www.youtube.com/watch?v=9aVDHi0Rsec.
Ehlers-Danlos syndrome (EDS) is a rare genetic disorder of the connective tissue. There are six types: classic, hypermobility, vascular, kyphoscoliosis, arthrochalasia, and dermatosporaxis. Each type is caused by a different genetic alteration. The vascular type has the most severe symptoms, including arterial ruptures and sudden death.
Means has the classic type, and each child that she bears has a 50 percent chance of inheriting the same type. Means has two sons, age 3 and 4, and the older one already has already been diagnosed. He will never be able to play sports, and he struggles with everyday tasks that cause pain.
Means' exceptional joint flexibility is the source of some of her symptoms. One of her 13 surgeries was a procedure to reinforce her neck. Before surgery, she felt like a “bobble head”, since her spinal joints were too flexible to support her head, causing damage to her brain. Her finger joints are so flexible that she finds it a challenge to perform ordinary tasks such as putting on a shoe. There is no cure for EDS, but surgery and braces can relieve some of the symptoms.
Dr. Atsushi Watanabe of the Nippon Medical School in Japan provided a review of EDS, with the comment, “In Japan, most medical professionals are unfamiliar with this disease.” This is also true in the United States, as Means can attest. She has a pile of medical paperwork from all the doctors who missed the diagnosis.
“My purpose, now, is to do as much as I can to raise awareness of EDS, early diagnosis, treatment, and support groups,” Means explained. Now she's flexible in a different sense: she is changing her life so she can be there for her children, and she's helping other families in similar situations.
References:
1. Kristin Means, “Invisible Struggle – Living with Hope”, Cecil Soil Magazine, 2011 May-June: 16-17. http://cecilsoil.com/
2. Watanabe A et al, “The Vascular Type of Ehlers-Danlos Syndrome”, Journal of Nippon Medical School 2008; 75: 254-61. http://www.ncbi.nlm.nih.gov/pubmed/19023163
3. Ehlers-Danlos National Foundation web site, http://www.ednf.org/
Reviewed June 7, 2011
Edited by Alison Stanton
Linda Fugate is a scientist and writer in Austin, Texas. She has a Ph.D. in Physics and an M.S. in Macromolecular Science and Engineering. Her background includes academic and industrial research in materials science. She currently writes song lyrics and health articles.