My brother, Barry, was born when I was two years old with what we called, at the time, an “unspecified neurological condition.” He faced a host of medical issues, the worst of which were seizures. He was also globally disabled and never learned to walk or talk. That’s how medical providers would describe him at least. But to me, it was clear the better label for him was fighter.
Every day I watched him push himself to achieve milestones when so many people told him he couldn’t. All the while, he was the happiest of people, and rarely was he not smiling or laughing. Barry and I became very close, and from the time I could talk, I became his advocate and protector – the things he couldn’t do for himself. His rare disease pushed me to stand up to people who were being mean or using the “R-word.” It pushed me to advocate to doctors to ensure he was getting the best quality of care, and to beg providers not to be satisfied with just disease stability… I wanted him to continue to progress.
Sadly, Barry passed away in 2015 at age 16, and at that time we still didn’t have a diagnosis for him. As he was passing, I promised him I would find out what happened to him and do everything in my power to prevent it from happening to anyone else.
Just 3 years later, I began working for Barry’s former neurologist, conducting spinal muscular atrophy clinical trials. One day, I received a new patient who reminded me a lot of Barry. This prompted my boss and I to discuss how Barry’s case was such a mystery, and he gave me a few suggestions as to how I could potentially find that answer. Just a few months later, I learned that Barry was the 106th person to be diagnosed with Jordan’s Syndrome, or a mutation in the PPP2R5D gene.
Even though there is nothing I can do to help Barry anymore, I use the love I had for him, and the fight that he had, to push me to advocate for others with Jordan’s Syndrome and other rare diseases. I am currently in a master’s program that will fast-track me to medical school so I can find a cure for Jordan’s Syndrome and hold true to my promise that nobody else will suffer the same fate he did.
I think when people who are not affected by rare disease hear mine and Barry’s story, they are moved by it, but rightfully so think that this story is not the norm for most. However, I know very many rare disease patients who have similar stories to Barry and are still undiagnosed, thus not receiving proper treatment. I think Rare Disease Day helps those unaffected by rare disease understand that there are actually so many people affected. The increased attention to the rare disease community helps other people understand the gravity of these situations and makes them more willing to help in ways such as donating, or through their voting choices.
Living with a rare disease affects every aspect of life for the patient and their family/caregivers. When Barry was alive, we couldn’t do anything as a family without a great deal of planning, and even with the best planning, things would often have to be cancelled due to Barry having a crisis. These effects are long lasting; even though Barry is no longer with us, I still feel them, such as increased anxiety when I am around people with a cold or illness – it’s like it is ingrained in me not to catch anything I could potentially pass on to Barry which would affect him much worse than me.
The simplest way I can explain what true health equity is, is that everyone gets exactly what they need, without money or insurance being a consideration. I’ve always wondered what the point of cutting-edge treatments are if the people who need them most cannot afford them. I’ve also learned that equity does not always mean equal, and that some people require more assistance than others, so that’s why I say it means that everyone gets exactly what they need. Additionally, the quality of care and bedside interactions should be more equal for all, and not based on money, status, race, gender identity, or sexuality.
