A neurologist, a tall man with sandy brown hair and sympathetic eyes, whom I had just met for the first time, patted my arm reassuringly. Unable to control my grief, I sat with tears streaming down my face, choking out the details of our diagnostic odyssey. While listening to Iris’ medical history, the neurologist sat with his head against the wall, seated on the examination table, listening attentively and silently.
The details of the prior misdiagnoses seemed to weigh heavily on the doctor. He sunk further into the wall. He took long blinks. We were told, the misdiagnoses we had received were all too common. A year before, we had been told by another neurologist that nothing was wrong and testing was not merited. We had been told by a developmental pediatrician that Iris had mild athetoid cerebral palsy.
A geneticist was also present throughout the appointment. Ironically, I can hardly remember our interactions with him. His colorful tie and the distinct level of respect from his colleagues come to mind. He promised to connect us with the best GM1 specialists in the country. A genetics counselor was also present who listened attentively. When the doctors left for their next appointment, naturally, the counselor stayed and counseled me in a soft gentle voice. I have nearly no recollection of what we discussed. I think I mumbled to her that would likely have to get a new house because our current house is not handicap accessible.
Finally, a social worker entered the small examination room and introduced herself to me. My mind was racing. My hands clenched a crumpled piece of paper with my questions for the doctors on it. Somehow those questions on the paper seemed so inconsequential. I felt small for telling the doctors I wanted to do whatever they would do for their own children. It felt as though they had heard the same comment from every other concerned parent of a child with a horrible diagnosis. Every parent wants the best possible care for their children.
Our previous neurologist, a kind, gentle woman with a small private practice had referred us to this large clinic at an esteemed university. The new neurologist and geneticist at this large clinic were to be responsible for the confirmation of Iris’ diagnosis. For a “big time” disease such as GM1 Gangliosidosis, we were told our health insurance demanded a confirmation from another doctor.
We had been given the devastating diagnosis just the day before in the female neurologist’s office. My husband called me from that appointment while I was at work. He told me that he might not even be able to drive the car home because he was having difficultly breathing. For me, the news had not sunk in. I ran through the mental gymnastics of how I would get to the doctor’s office and not have to leave a car behind. I did not even attend that particular appointment. We thought it would be just another appointment, the same as all the others.
At the appointment before the diagnosis, we had been told not to be overly concerned. We were told that the chances of a very serious diagnosis were extremely low. Despite our utter disbelief and total dismay, our sweet girl just happened to be that incredibly rare, rare case.