My son Zach, now 16, is an n=1. Something I never thought could happen until he was four and a half and we sat at the medical genetics office and received his undiagnosis. The symptoms he had, the differences that marked him from his peers, the health concerns my husband & I were tracking, they all added up. Yes, he had a genetic disorder. No, it didn’t look like it fit into anything already characterized.
These words left us with no prognosis and no plan to move forward with his healthcare. His grab-bag menu of symptoms and health-care concerns that would wax and wane and turn into a variety of surprising crises would follow him for the next 12 years. All of them without the ability to make plan. This is the reality of undiagnosis and rare disease – little prognosis, and reeling from one specialist to the next, only reacting (hopefully in time) as problems arise.
It’s not good enough. We grew a team around us, clinicians who do research and who were willing to partner with us, fellow patients who had similar concerns, people wise in the way of gathering information. We grew privileged in our connections. As much as I could, I delved into the world of research to find any clues that could inform the practice of Zach’s healthcare providers to try new and innovative therapies. Did I understand everything I read? No. Did I get better at it? Yes. Mostly, it sparked conversation with his providers. It provided new avenues of thought. It was a springboard.
This is how things stand now. My life is a beach, a rocky beach.