Those with a Rare Disease Are Not Alone

Spasmodic torticollis (ST), a rare disease that is also known as cervical dystonia, can turn your whole life upside down. There are so many people who are still being misdiagnosed. I know what it is like to be one of those people—it took me two years to find a doctor who knew what was wrong and how to treat it. In those two years, I was so doped up with medication that I did not even get out of bed until my husband found a doctor who was able to help us. It has been eight years now that my family and I have lived with this disorder. The good news is that treatment is available if you have the right diagnosis; the bad news is that there is still no known cause or cure.

I still go for Botox injections every two and a half months, and I also take medication to control the ST. We do know that stress, anxiety, and being over-tired can aggravate the disorder. One thing I have learned with this disorder is that it is important to try to know what triggers it, and to try to control those things. I have learned that I cannot over-do things, to nap during the day if possible, take a walk, and listen to some relaxing music. This does not always work, but I like to think it helps some of the time. If things are getting stressful, I try to leave the room, perhaps going outside to get away from the stress.

I find strength and hope in my family, and especially now fight my disease with all the energy I have so that I can spend time with and enjoy my granddaughters. I think looking into those two little girls’ eyes gives me the strength to fight harder and harder every day. For me my family is my life, and I get my strength from them. Don’t get me wrong—I still have my bad days as well as good days. I just try to remember that I am not alone and to enjoy every minute, hour and day that I get with my husband, children and grandchildren. I know what I can and cannot do, and sometimes that hurts—especially when you want to do things with your loved ones. I am lucky to have my family and their love.

There are two groups that I would recommend to others who may be battling spasmodic torticollis. Dystonia, Inc. can be called (toll-free) at 888-445-4588 or visited online at <spasmodictorticollis.org>. The National Spasmodic Torticollis Association, which is holding its annual symposium in Newark, NJ on October 11-13, may be called at 800-487-8385, or visited online at <www.torticollis.org>.

I also want people to know about legislation regarding rare diseases that is currently being considered by Congress. The Rare Diseases Act of 2001 (S. 1379), which was introduced by Senators Edward Kennedy (D-MA) and Orrin Hatch (R-UT) during the fall of 2001, would help secure funding for rare-disease research through the U.S. Food and Drug Administration’s Office of Orphan Products Development. Two companion pieces of legislation have been introduced in the House of Representatives: the Rare Diseases Act of 2002 (H.R. 4013), which establishes a permanent Office of Rare Diseases at the National Institutes of Health; and the Rare Diseases Orphan Product Development Act of 2002 (H.R. 4014), which would provide $25 million per year for the FDA’s Orphan Product Research Program. Please help by writing, faxing or e-mailing your Senators and Representative to tell them you support this legislation, which will provide funding that will help those of us with rare diseases.

It is about time that we who have a rare disease or disorder stand up to start fighting for ourselves. We cannot keep letting others do the fighting for us. It is time that our government heard us loud and clear! For more info on this legislation, you can call the National Organization for Rare Disorders at 202-496-1296, ext 3014; or visit <www.rarediseases.org>.