"The label doesn't matter. There's no cure."

We can feel vulnerable and victimized by professionals who fail to see the importance of exhausting all avenues to determine an accurate diagnosis.

As was likely the case with most of us, when I approached my family doctor regarding the dizziness, poor balance, and focus problems I was experiencing, we did a bunch of rudimentary tests and treatments. I walked the line, touched floating fingers, and had my eyes checked by an optometrist. After an incident of incapacitating vertigo one night that left me on the floor, crawling to my bedroom and bed, the solution was thought to be physiotherapy. Along with “sitting up, lying down, turning left, turning right, repeat” exercises I was fortunately included in a remote teaching study for physiotherapist studying vestibular related balance issues using sensitive eye-tracking goggles. The instructor noticed that I had a nystagmus. Around the same time, I had a black-out event in the night that landed me in hospital for observation. My walking was becoming more drunk-like and I was struggling with intense nausea and waves of dizziness.

Luckily, my family doctor was exceptional and he set me up to get a CT scan and an appointment with a vestibular neurologist who I have huge respect for. Within a few months I had cranial surgery to repair a small opening in my left vestibular canal. If the surgery was a success, it should clear up the drunk-dizziness and related symptoms. Sadly, it didn’t have the effect we had hoped for and over the next few months my symptoms became gradually worse.

It was about this time that my family GP suggested a referral to a neurologist. This had been motivated by my visit to Dr. Google with all my symptoms and I was able to identify a few possible causes. I spoke rather bluntly with my GP referring to my list of possibilities: something called ataxia; PSP, Parkinson’s, or a real outside chance, MS.

I recall with great clarity when my GP said to me, “It doesn’t really matter what the label is, it is neurological and progressively degenerative.” I remember the feeling I had at that moment. It felt like I wasn’t worth the effort of the medical profession to investigate the cause. I also felt like I suddenly didn’t really know myself — that a vacancy had opened up inside. After a moment I replied, “It actually does matter what this is because it tells me something about what I should expect and what I should be doing.”

My GP wasn’t the last doctor to proclaim that the label doesn’t matter, and it wasn’t the last time I challenged that thinking.

The difference was, I was more prepared in my response, and it is this that I want to share.

Why am I writing about this? I don’t think a week goes by when someone doesn’t share their confusion in one of the forums online about the response they have received from a doctor, even neurologists, saying that ‘what it is’ or ‘what kind of ataxia it is doesn’t matter. You have ataxia.’ Those statements make me angry and disappointed on so many levels. It does matter.

Imagine you have been at the regional cancer clinic for tests, and the doctor walks in and announces, “You have cancer. But it doesn’t matter which one.” Of course it matters! And knowing which kind of ataxia or neurodegenerative disease you have matters in the same way and here is why.

To know or not know which type of condition you are afflicted with is not the doctor’s choice. It’s the patient’s choice. The doctor actually has an obligation to be diligent in exploring the problem regardless of whether there is a cure or not, which is often the reason given to ataxia patients for not pursuing an answer! In countries in which public health care exists like Canada and the UK, there really isn’t any excuse to not pursue an answer. It becomes a different story in countries that are primarily a private health care structure because finding answers could be limited to the patient’s capacity to pay for tests and doctor visits.

To be able to give the disease a name, a label, helps us make sense of our situation. Our world is identified through labels and these labels allow us to make mental models to work from for our survival. The cancer example shows the importance of this. Would a doctor approach a patient and say, "I think it might be pancreatic cancer, but there really is no cure, so we won't look into this further." Of course not! Ataxia is no different. Having genetic based ataxia is very different than having acquired ataxia because of possible interventions. It also helps our family to get their head around why you are feeling exhausted, nauseated, and frustrated. Too many Ataxians have family members and friends that don’t get it because there is nothing to actually see bleeding or broken and treat us like nothing is wrong.

Identifying the source of the ataxia, be it genetic or acquired, informs us and helps us to make life decisions. Is it dominant or recessive, and should our children and grandchildren be made aware? These are critically important discussions to have with your loved ones and it is up to you to have that discussion based on factual, patient-based research developed by your medical team.

Even though each person experiences ataxia differently, research of specific types of ataxia patients provides us with patient history that informs us about typical progression rates and typical physical degeneration rates which allows us to judge whether we need to plan to take that trip sooner rather than later, renovate a bathroom, or apply for insurance or social support services that require (demand) a specific diagnosis.

Understanding the type of ataxia we have allows us to process this life changing reality and to begin to accept it and live into it. It allows us to grieve the loss of normal and to live into the new, ever changing reality. Living with Multiple System Atrophy Cerebellum Ataxia, with its shortening of lifespan and rapid physical impact is much different than living with Idiopathic Cerebellum Ataxia or SCA6. I know this first hand, having received a “possible clinical MSA” diagnosis (later changed to ILOCA). I was suddenly not counting my life by years, but by months and days. I spent time getting my documents in order, signing health care intervention forms, and establishing plans to exercise medical assistance in dying options. Even with a change in diagnosis, I am very glad to have had that wake up call and to have those things in place now. However, I needed to accept the likelihood that the ataxia journey was going to be long, challenging, exhausting, and with a vague sense of future. It sounds odd, but knowing that with MSAC there was an end provided a macabre comfort.

Finally, the altruistic reason for finding out the specifics of your type of ataxia. Knowing what kind of ataxia you have allows you to actively participate in cohort studies into rare diseases. It was only because people knew they had FA could there now be drug advances to manage the disease better. It was only by people being labeled as having idiopathic ataxia could there be the identification of SCA 27b. Knowing as much as possible about your condition can help others in the rare disease community.

When a doctor says that it doesn’t matter what the name or what kind of disease it is that you have they are effectively denying you of your right to plan and live your life with a sense of dignity and control. They are denying you the right to inform your siblings and children of possible future medical concerns. And, they are denying the chance to participate in the creation of new medications and new treatments through cohort research.

If after asking your doctor for more specifics, for genetic testing, MRI’s, and observational protocol assessments, your doctor continues to resist finding out more and insists that it doesn’t really matter, there is no cure, then find a new doctor.

Still need some more encouragement to pursue a diagnosis? Have a look at this insiders perspective from Dr Aniruddha Malpani, who wrote four reasons why doctors may say, “I don’t know” or something to that effect. ( What a Doctor Means When He Says, “I don’t know.” - Daily Rounds, October 2015.)

To truly live into it, we need to know what kind of ataxia it is.