Written by Anirudh Koneru
Published on 8/10/2020
Life with rare diseases can be exceptionally difficult, impacting parts of life that people often take for granted. While most people recognize the impact rare conditions have on the physical health of patients, few realize how broad of an effect it has on patients’ lives. Everything from career to interpersonal interactions is heavily impacted by such diseases, and even mundane tasks like walking and speaking can become a daily challenge and get in the way of living a happy life.
Gary Johnson, a patient with spinocerebellar ataxia 2, can attest to this struggle (for more information on spinocerebellar ataxia, click here). Fourteen years ago, Johnson was living life quite happily and ordinarily. With two daughters and two grandsons, Johnson had a bit of a handful in providing for his family. Preschool teacher by day and waiter by night, Johnson worked hard to support his family, but never for a moment despised it.
But everything changed when he was diagnosed. “When somebody is first diagnosed they are very, very scared, as I was,” Johnson says, “I was very angry [and] very scared.” Johnson had it worse than most patients with SCA2, too. SCA2 is a genetic condition that has an autosomal dominant inheritance pattern. What this means is that by the very nature of the disease, a person cannot have it unless one or both of their parents carried the gene for it. This often means that one’s parents would be aware of their genetic predisposition and was probably diagnosed as well. As such, most patients have some time to emotionally, financially, and mentally prepare for such a diagnosis.
Unfortunately, Johnson did not have this luxury. Being adopted, he was clueless as to the fact that he had inherited SCA2, and by the time he was diagnosed, he had no idea what to expect. Because of this, Johnson felt alone—after all, he had a disease that most people hadn’t even heard of. SCA2 affects so few people that finding someone to share the struggle with can be impossibly difficult, and the fact that he could not share this struggle with his biological parents, who could have potentially helped him through it, made it especially challenging. His family was very supportive and loving of him, but even they could not truly understand the struggles that he faced and may face in the future. In a time of uncertainty, Gary did not know where to turn or who to look to for hope.
However, through Facebook groups and rare disease conferences, Johnson was able to find a sense of belonging. “I have met so many wonderful people in the [Facebook] group that I belonged to,” he says, “I owe them a great deal because I know now I am not alone.” He was able to connect with people online who understood and even experienced the same struggles that he was facing. Furthermore, after attending a conference in Las Vegas, Johnson says that he realized how even as there were so few like him, he was still not alone in the struggle of dealing with his illness, “and that made me feel safe.” Eventually, Johnson ended up moving there, and has spent his time there since.
Unfortunately, SCA2 is not a forgiving condition; soon Johnson’s condition began to deteriorate. A ruthless and progressive neuromuscular condition, SCA2 only gets worse as a person ages. As with all SCA2 patients, Johnson began having difficulty with everyday tasks from walking to speaking. “[There are so many] things I could not do now that I could do before like long walks. My balance is really bad and everyday is something of a struggle for me,” says Johnson.
SCA2 has also impacted his struggle with personal relationships. After his (peaceful) separation from his wife (“We’re better friends now than we were back then”), Johnson has had a hard time finding someone who accepts him for who he is. When asked how conversations usually go when he meets people, he responded promptly, “I tell them what I have. Then I tell them to go home and look it up on the internet. I usually do not hear from them again.” Relationships can be especially difficult for those dealing with rare diseases because so few people take the time to understand the struggles associated with it. In fact, most people won’t even give him the time of day after learning about Johnson’s condition. What makes this even harder is that, as a member of the LGBTQ+ community, his options are further limited. “I have never heard of anybody who is gay that has ataxia,” Johnson comments when asked about the struggles of finding a partner. Few people seem to be compassionate and willing enough to understand and sympathize with Johnson’s struggles, which has made his endeavors to build a meaningful relationship even more difficult than they should be.
Despite all of this, Johnson still finds a way to count his blessings and enjoy his life to the fullest. Now, at the age of 55, he loves spending time with his children and grandchildren, and lives life as best he can. “I’m very blessed and I am so lucky to be alive.”
We believe these stories are important for others to hear, not only for awareness of the disease itself, but also for the support it provides to every patient. Thank you so much to all the people who share their stories with us! We truly appreciate your strength and not only are you contributing to our organization, but you are also furthering the awareness of rare diseases as a whole.
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Thank you for reading!
Thank you so much Gary M. Johnson for sharing your story with us! You may find him on Facebook at "Garry Johnson".
Sources:
Johnson, G. (2020, July 29). Virtual Questionnaire through Google Forms.
Koneru, A. (2020, August 9). Rare Disease Spotlight: SCA2 (Spinocerebellar Ataxia Type 2). Retrieved August 10, 2020, from https://shapingfoundations.wixsite.com/shapingfoundations/post/rare-disease-spotlight-sca2-spinocerebellar-ataxia-type-2
NIH. (2014, June 23). Spinocerebellar ataxia 2. Retrieved August 10, 2020, from https://rarediseases.info.nih.gov/diseases/4072/spinocerebellar-ataxia-2