Posted by Jayme Blaschke
University News Service
February 13, 2009
SWAN Austin chapter founders Healther Long (left), Jennifer McKay and Mary Elizabeth Parker.
When a child or loved one comes down with a severe illness, the experience is difficult for all involved. But when modern medical science isn’t able to provide a diagnosis--much less a cure--the news can be nothing short of devastating.
Syndromes Without A Name exists to offer support in such trying times. Founded in 2008 by Texas State University-San Marcos alumnae Jennifer McKay of Austin and Heather Long of Cedar Park, along with Mary Elizabeth Parker, an assistant professor in the Department of Physical Therapy, the local chapter of SWAN is a non-profit organization dedicated to providing support to the families of children with undiagnosed or rare medical conditions living in or around the Austin area. The international parent organization was founded in the United Kingdom and Australia.
McKay, who serves as president of the local chapter, explains that she became involved through personal necessity. After an uneventful pregnancy, her son Jimmy began displaying an array of distressing symptoms at three months of age. His condition progressively worsened despite all treatment. When Jimmy died just a month past his first birthday, his syndrome remained undiagnosed.
“While going through all of this, I was looking to various places for support, but when you do not have a diagnosis or fit into a box, there is nowhere to turn--until I located SWAN USA on the Internet,” McKay said. “Finally, I had people to speak with experiencing somewhat similar things. While Jimmy was still alive he was not well enough for me to begin a local group, but I knew if one had already been around I would have loved to be a part.
“In January 2008 I joined the board of SWAN USA. With their permission, Mary Elizabeth, Heather and I started working on getting the first local chapter up and running,” she said. “Our first meeting was in June 2008 and we have been growing ever since.”
Parker became involved through her work as a physical therapist. After she watched two patients die with undiagnosed illness, she decided to become more active in the issue. Currently, she serves as the medical liaison for the local SWAN chapter and is studying area children with undiagnosed syndromes as part of her dissertation.
“I didn’t realize how needed we were until I got involved with SWAN,” Parker said. “I’m involved in networking with physicians across the country to get these cases reviewed. The National Institute of Health started undiagnosed study in 2008, so I’m keeping up with that.
“That’s what I bring to the local chapter--training in the medical field and access to resources families can’t get on their own,” she said.
The ultimate goal of SWAN is to assist families in getting a correct diagnosis and proper treatment, Parker said. By pooling resources, families who’ve already been through the experience can offer more resources and emotional support.
For Long, the struggle to diagnose her son Cal lasted three long years before he succumbed to his illness in 2006 at the age of 5. A large part of the frustration, Long explained, was the medical establishment’s lack of urgency as they ticked off a list of afflictions from which he wasn’t suffering.
“Until my experience with my son, I like so many other parents, took for granted that there was a diagnosis for every disease out there,” said Long. “I shared the common misconception that doctors knew how to treat and cure anything. The struggles my son endured opened my eyes so that I bear witness to the plight of the undiagnosed children as well as the inability of our healthcare system to help them.
“I asked Cal’s doctors if there was a way they could look for other children who had Cal’s same or similar clinical presentation or if there was place that I could send his records for research purposes. I was told that there was no such database,” she said. “Since Cal’s death, I have continued to research his case in hopes of finding anything that could plausibly explain what happened to him and hopefully use my knowledge to help others. I have also been working to ascertain how ‘undiagnosed’ cases are handled by the doctors and preserved for research to help other ‘undiagnosed’ cases.”
The local SWAN chapter currently meets once a month and maintains a Yahoo Group to facilitate contact among members, said McKay. Support is also in place for fathers, those with diagnosis of rare conditions, and members of the Spanish-speaking population.