For years, I found myself in a labyrinth of medical uncertainty as doctor after doctor struggled to identify the disease that plagued my oldest son, Mitchell. Our family’s days were filled with trips to medical facilities and filling out volumes of paperwork detailing his years of symptoms and attempted treatments. The up-and-down rollercoaster of events made it traumatic to have to relive all these horrible moments over and over at every visit.
For seven years of his life, the unknown disease slowly robbed my son of his hearing, ability to walk, control of his hands and arms, and, most of all, his overall independence. As we endured an endless cycle of referrals and consultations, I felt powerless and fought to stay hopeful. Only a diagnosis — good or bad — could help us begin to make decisions about Mitchell’s care; at least then my family would have a name for his illness.
At the age of 12, our son became a medical mystery despite having been perfectly healthy all the years before. Our days were spent on a medical odyssey to find answers and care from neurologists and specialists in our home state of Missouri and beyond. Despite lab tests, radiology tests and even exome sequencing — a type of genetic sequencing increasingly used to understand what may be causing symptoms or a disease — doctors were unable to give him a diagnosis or prognosis.
As a registered nurse, I held on to the faith that medical science would prevail in addressing Mitchell’s condition. L.