If you are reading this, you have probably been affected by Huntington Disease or know someone who is affected by this terrible disease. For many, Huntington's is like a mugger in the night that stalks your every step. At every turn, every corner your mind sees the shadow of Huntington's following, waiting to strike if it hasn't already. For some twenty five percent of us who are HD positive, there is no family history and no one in the shadows to be concerned with. No symptoms to be watching for that may indicate the need to test.
My journey with this disease and my experience with testing actually began in spring of 2010. At the time, I suddenly became ill with severe vertigo, nausea, vomiting, loss of hearing and unsteadiness. I began having problems with fatigue that became chronic in a short time. In hindsight, I'm not sure there were not some subtle symptoms prior to this. After seeing my family doctor I was diagnosed with vertigo and told it should go away in a few weeks.
Weeks passed but the symptoms didn't. No meds helped any of my symptoms. At that time my family doctor realized I needed an ear nose and throat specialist. This was great news, now perhaps we can put this misery to an end. After some vestibular testing the ENT diagnosed me with positional vertigo and sought to treat me for this. This put my mind to rest but only for a short time. Vertigo, twenty four hours a day and the other issues were taking a toll on me, my work and my family. Honestly, I was scared. My mind was wondering what is happening to me and will it be my end. I was missing a lot of work and pushed just to go in each day. My work was suffering. Many days I only made it to the parking lot and others I would end up going back and forth home a couple of times each day. Lying down and sleeping was my only solace.
After several months with no relief my ENT decided it was over his head. He referred me to a neurotologist in Birmingham. Again, I was hopeful for an end. The Neuro told me I needed surgery right away. I had Meniere's disease. I was told outpatient surgery, some injections in my ears and I will be like new almost immediately. So here we are for surgery (actually injections) with great hopes. After the second round I drove home. Trying to keep up a good face at work, I told them I was great, just like new. Underneath I felt myself slipping back every day. In fact all of my symptoms didn't go away. Luckily for me the Neuro's nurse was a sweetheart and talked to me on several occasions about my other options.
Soon we realized we weren't getting anywhere. I had to have answers. There were too many serious issues going on here just to take it on the chin. I became very disgruntled with the medical community. My concerns and the urgency I felt just didn't fit their plans. After returning to my ENT he referred me to a Neuro in Nashville. Again, my hopes are high. In Nashville I was told I had Superior Canal Dehisence (cracked temporal bone) that was causing all my problems. This believe it or not was great news. Especially since I had a head injury about six months prior to becoming ill. This made perfect sense. Again it didn't take long to come back down to earth. On a follow up visit the Neuro decided it wasn't SCD, he didn't know what was wrong or what to do. That was certainly reassuring........Vestibular therapy was going to be my only option at this juncture.
Being in an area that is a couple of hours from any major medical facility I had to choose a therapist close to home. At this point my driving was limited to local only and I had left work on short term disability with no real hopes of an answer. Eventually this turned into long term disability and eventually permanent disability. The therapist I chose happened to be the best decision made during this entire ordeal. He listened and understood my situation. Greg was very professional and compassionate as I could see with all of his patients. Unfortunately, I was not making progress. After a couple of meetings between Greg, my wife, and me; he took me aside for a talk. He knew what I had been through over the better part of a year and understood my fears and frustration. He gingerly told me he felt there was a neurological problem. Of course I agreed, this is what I've been trying to tell folks. We talked options and knowing all of the specialist I have seen to date he suggested Mayo. He told me I needed someone to take me from the top of my head to the tip of my toes. After my wife and I deliberated, I made an appointment.
It was around October 2011 that I first saw a neurotologist at Mayo. He took my history and was very interested in what I had to say and my concerns. I had all of the vestibular testing as it probably seemed the most logical answer. My gait was horrible and I was finally able to go through a posturography test that really showed my true imbalance that was giving me so much problem. From here they made me appointments with other specialist until I finally saw a neurologist who specialized in Parkinson/gait/movement disorders and Huntington Disease.
During my appointment he conducted several tests and he had already ordered psychiatric testing and cognitive testing (something I had begged for previously). With these results in hand he counseled me and asked if I would mind if he tested me for Huntington's. Not at all, what's Huntington's ? I don't think I got the full nitty gritty, but some explanation; it was a bit of a fog. So the blood was drawn, I was told it would take a number of weeks for results. That's fine. I'm really not worried. After all, one of my sister's looked it up and decided there was no way I had Huntington's, we don't have a family history. So here I was still with no answers charging down another dead end, or so I thought.
It has now been a year this month since I heard back from my HD test. I remember vividly seeing it was Mayo calling and Dr. Wyzolek on the other end. Are you sitting down he asked? Are you alone? You asked me to deliver the results by phone and I have them. Do you want to know them? Yes. You are gene positive for Huntington's disease. Do you feel depressed or suicidal. No, at least not yet. I may in a few days after this has sunk in. Very well you may call at anytime if you have questions. Thank you. That was it........I wasn't sure how to feel. After all, I had never heard of HD and there was no known member of my family who even vaguely resembled having symptoms common with HD.
I was to say the least, lost. Soon I began looking up HD, symptoms, etc. Many questions were unanswered and I actually doubted the results especially with such a low cag count of 36. Eventually I tested again for peace of mind and of course it was the same. The doctor told me it could be a result of the head injury or a manifestation in me.
It wasn't long and I found the HD Lighthouse. What a blessing. Here I was able to ask questions and get answers from so many with long histories of this illness. I stumbled into a village of caring, giving people in the same or similar circumstance as myself.
One year later I still ask myself why, knowing there is no answer. I am surrounded by a loving wife, children, family and the best friends a person could ask for. I don't hold back my thoughts or worries about my eventual demise and they don't hesitate to tell me to be quiet, I’m not going anywhere, or maybe they will make fun of my weeble wobble walk.
Questions abound after finding out. How long do I have to live a reasonable existence? Will my family eventually give up on me? Will my children have this demon of a disease? Will I have psychiatric issues? The answers seem to allude even the best. There is however great hope on the horizon.
I continue to participate in the HD Lighthouse forum and hope I can return some of the generosity of caring that has been extended to me.
I know this is a bit long and probably very boring. My attempt is to let those who have no family history who have tested positive see that the journey may be long and the answers unwelcome. In fact my wife and I even decided at one point the doctors did not know what was wrong and probably never would, perhaps I should just accept things this way. I had to know or I would go crazy so I continued with Greg's advice. My advice is to be your own advocate for your care and don't be afraid to ask and expect answers. Unfortunately with HD everyone seems to present differently and there may not be a clear cut answer. The diagnosis opens other issues just as it did when I found out my children are at risk. Do I feel guilty? I wouldn't call it guilt. This is an illness that I was presented with and out of my control. Do I worry about my children and my wife? Certainly.
Hopefully this will help others with or without family history of HD see that knowing can be empowering.