What I Found at the End of the Tunnel on My Search for a Rare Disease Diagnosis

There is light at the end of the tunnel.

At least, there was light at the end of mine. Bright, soft lights and a reassuring doctor. For I had not just been in a metaphorical tunnel in my search for diagnosis, but had just come out of a real tunnel: a barely-lit basement corridor, where in tiny adjoining rooms patients like myself had their heads jerked around, lights shone in their eyes and large amounts of water injected into their ears: all in the name of finding out what neurological or ear problem was troubling them.

After nearly five years of unexplained symptoms, I hadn’t expected much from this particular appointment. Yet here it was: the long-awaited objective test result that pointed to cerebellar disease, which was causing my balance problems. Maybe I should have jumped for joy or broken down in tears. But as the head of the clinic, a kindly and cultivated man who my neurologist had persuaded to see me urgently two days before Christmas, took the time to explain what was happening to my body, my mind was beating to its own rhythm.

A mounting drum beat: of course, of course, of course. At last. I had known within me for someone that I was not struggling with a conversion or psychosomatic disorder. This “knowledge” was not the fruit of prejudice or merely fear of such conditions, but on the careful observation of when and how my symptoms occurred. It had been painful that so many people seemed reluctant to believe what my body was telling me. Now the rest of the world would listen to my diagnosis.

Below the drum beat, the undertone was a growing sense of unease. The doctor was being so solicitous, taking so much time with me—chatting to me about my research and his African masks and statues—when doubtless he had many other things to be getting on with. This had happened to me before when my brother was very ill as a child, when a nurse dropped everything to talk to me whilst my parents dealt with very bad news, and the echo of the past rang alarm bells. As he told me I would likely be referred to a specialist neurological center and that as I was presenting with something unusual (all of which I knew already from my own neurologist), I began to wonder if he knew more than my other doctors did about how severe my case could be.

The consultation over, I stumbled out of the clinic feeling that something major had happened. But what exactly? The brilliance of the doctor’s office had faded for urban winter gloom. The only way I found to mark this long-awaited yet thoroughly unexpected occasion was to grab a taxi home to be alone with my thoughts. Enough of tunnels: my wonky walk and I could be jostled in the metro some other day.The taxi ride was unenlightening: only after a few weeks have I begun to have an inkling of what my new reality looks like.

On the positive side, doctor’s visits have become so much easier for me. I have stopped preparing how I would present each symptom in order to avoid feeling brushed off. Conversations are less stilted. I stopped thinking of the standard neuro exam as a pass/fail test. I have had some wonderful doctors, but on my side I often felt awkward about the possibility of a psychosomatic diagnosis hanging on the air.

Appointments with specialists have been lined up. I’m trying a medication which works for many people with similar problems. Suddenly things are moving that could not have been put in place without diagnostic evidence.

On the other hand, there are downsides from getting a diagnosis.

One is a sort of grief. When you have “it- could-be-this-it-could-be-that” syndrome, you might be scared, but you don’t have to fully come to terms with all the implications of any particular diagnosis. In particular, limbo allowed me to keep thoughts of having a genetic condition I could pass to my kids at bay. Furthermore, when you have an episodic condition like mine, there is always the hope—albeit irrational—that “it” won’t come back. Now I know it always will, and thoughts of what it will be like to have a balance disorder when I’m old and have fragile bones pop into my head from time to time. I can only hope that for me and for my babies (if they are affected) there will be an effective treatment by that stage.

There is another too which is also a sort of grief. Part of me, unconsciously, hoped that a diagnosis would repair some of the wound of the last five years of living without diagnosis and with a very funny walk. Months of trying to walk behind my boss rather than in front in case he thought I was drunk. Losing my job because of sick leave. The anxiety of being pregnant and having an unstable gait. Coming to terms to walking with a stick when needed. I guess I’ll have to come to terms with the fact that’s just how it was and very few people were completely with me all of the way. That there is no medal for the undiagnosed, even though perhaps there should be.

I wonder if that’s why I’m here. Many of us have lived experiences we never asked for and that few people intuitively understand: except each other. I need encouragement and understanding and empathy for this next stage of my rare and chronic illness journey just as much as when my symptoms were unexplained.

For if there’s light at the end of this next tunnel, maybe it will take the form of a wonder drug, or physiotherapy or rest, but almost certainly it will shine more brightly if it involves community.

#raredisease #ataxia