Sufferers hoping Rare Disease Day brings awareness

Sue Guinn Legg • Feb 27, 2014 at 10:31 PM

Friday is Rare Disease Day, an annual awareness day in which patients and patient organizations around the world to join together for better care.

Rebecca Johnson, a 43-year-old Elizabethton schoolteacher and one of the one in one million people diagnosed with Stiff-Person Syndrome, said while there are may activities lined up for today’s ninth annual awareness event, the most helpful thing anyone can do is reach out to someone with a rare disease who lacks support.

“There are not just a handful of rare diseases, there are many that are not studied and not funded.

“Look up rare diseases, see if you know someone who has a rare disease and reach out to that person because they are not supported and they are hurting on the inside,” she said.

Johnson, who worked for the Elizabethton City School System and served as a church choir director until August when her condition began to impact her lungs, said she had never heard of Rare Disease Day until her diagnosis in 2010. Now she understands its purpose completely and takes part in every way she can.

This year, she wrote letters to Tennessee’s lieutenant governor and to a state representative in her home state of West Virginia asking for legislative proclamations to bring attention to a lack of funding for research and patient support for Americans who suffer from any of the more than 7,000 rare diseases. She sent information from the National Organization for Rare Diseases to area schools in hopes they could include it in their health programming.

Johnson also notified local media outlets of the opportunity to help spread awareness. And on the encouragement of friends from an online support group for people with Stiff-Person Syndrome, she submitted her story to CNN, which included her “iReport” in its online Rare Disease Day coverage.

From her earliest recollection of symptoms related to her rare neuromuscular condition — the severe foot and leg cramps she first experienced in high school, through her years-long course of medical consultations and testing, her 2010 diagnosis and the recurring and intensifying maladies that have progressively put her in a wheelchair, forced her to leave work and finally rendered her homebound, Johnson shares her story to illustrate the gross lack of understanding and treatment for her condition.

“During the last two years, my health has declined to the point where I am no longer able to direct the choir, go on youth outings or even watch our children participate in sporting events at school,” she wrote in her iReport for CNN.

“My spasms have gone from intermittent to constant contractions. ... I have dislocated fingers, toes, even my shoulder. There are days when I am not even able to lie down because my back arches in contractions. ... Spasms in the muscles around my eyes make it difficult to read because I see double. ... There are days it hurts to be touched. ... Falling is also an issue.”

Since August, Johnson’s condition has impacted her lungs. She is no longer able to work around her house or even sing because of the risk of triggering spasms in her lungs that put her at risk of respiratory failure. She takes breathing treatment six times a day and a cocktail of oral medications that control her symptoms but do not cure their cause.

She said the only medically accepted treatment available is a course of blood transfusions aimed at removing a specific “bad antibody” that attacks of neurotransmitter enzymes in the brains of about 60 percent of all SPS patients. Johnson does not have that antibody so that treatment is not an option for her.

Through her online support group, she has learned of an experimental stem cell treatment that is having success but the $400,000 out-of-pocket cost of receiving that treatment in the United States is far out of her reach, so she is researching the possibility of having the treatment done in Canada.

In the meantime, she is counting her condition “a blessing in disguise” because it allows her to be home with her children and to better appreciate the love and support of her family.

Today, Johnson will to mark Rare Disease Day by taking a photograph of her hands and posting it on the Rare Disease Day USA website’s Handprints Across America page with those of other rare disease patients from across the country to illustrate their number and impact of rare diseases across the nation.

Other activities through which individuals, school groups and community organizations can are listed on the Rare Disease Day web site.

“Rare Disease Day is worldwide opportunity, an occasion,” Johnson said, “There are some rare diseases that get noticed more than others but it’s not just Parkinson’s and ALS.

“I would like to encourage people to go to the National Organization for Rare Diseases site, search the list of diseases and, if they recognize a disease a friend of theirs has, reach out to them on Rare Disease Day.”

For more information, visit www.rarediseaseday.org or the National Organization for Rare Diseases website www.rarediseases.org.

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