A rare disease is one which affects less than 200,000 Americans. National Rare Disease Day, February 28, brings a chance to raise awareness for these diseases, of which there are more than 6,000. Raising awareness for rare diseases is crucial when so few people have heard of these diseases before. Diseases which are considered rare by the National Institutes of Health include amyloidosis, mediastinal fibrosis, and leukodystrophy.
Leukodystrophy is a group of disorders, but all the disorders included in leukodystrophy mean that there is degeneration of white matter in the brain. A diagnosis of leukodystrophy in childhood means that as the white matter in the brain degenerates, skills that the child once knew, such as walking, talking and feeding themselves, will disappear. Currently, there is no cure for leukodystrophy, and the life expectancy with a childhood diagnosis is that of just a few years.
Jessica Gaston, of Las Vegas, Nevada, knows what having a child diagnosed with a rare disease means. Her daughter Hailey, now five years old, was diagnosed with leukodystrophy a year after she was first seen for the disease. A year of Gaston knowing something was wrong, but not receiving solid answers and getting misdiagnosed.
It began one morning when Hailey, then age three, had difficulty walking down the stairs in her home. After seeing Hailey nearly fall down two times on her way to the fridge for a yogurt, Gaston knew something was not right. She did not know the battle she was about to face. Gaston rushed Hailey to the ER, where Hailey’s condition continued to deteriorate to the point of not being able to correctly say Mom. The next year held many ER trips, visits to specialists, and a lot of testing. Finally, after traveling out of state, the fifth neurologist that Hailey saw was able to give her the diagnosis of leukodystrophy, which was confirmed by visits to the seventh and eight neurologists.
Rare Disease Day brings a chance for Gaston to bring awareness to leukodystrophy, although to her family it isn’t about a single day. “I don’t think we single out one specific day to bring awareness to rare diseases. With our blog [Hugs for Hailey], Facebook page, and Twitter we bring awareness every single day.” Gaston mentions that Rare Disease Day can be a way for people who are not personally affected by a rare disease to participate in raising awareness.
Just like wearing red for heart disease awareness, Rare Disease Day brings a chance to wear jeans for awareness. Gaston said, “We, of course, wore our jeans and Hugs for Hailey shirts, but our day was filled with appointments.” Hailey and her dad, Josh, did meet a man yesterday that asked questions, which gave them a chance to explain more about Hailey and leukodystrophy, and it taught the stranger that there isn’t always help available for children with rare diseases.
Hailey is a determined child who has relearned how to walk eight times. She is also a sweet five year old who loves school, all things Disney, the color pink and is thrilled to ride the bus. Gaston explains that Rare Disease Day means sharing. “Sharing means that more people will know this disease exists. That there might be someone that knows something that might help, or a person who is able to conduct research one day that will lead to a treatment or a cure.” Quite simply, to Gaston, sharing means hope.
By Ashley Campbell