Huntington's Disease runs very near 100% in my family from the maternal side. I have researched seven generations and have not found one person who does not have HD. I have known what I was up against from early childhood. I have seen HD from JHD in a 15-year-old cousin to late onset in an uncle that was near 80 when symptoms began. My mother died at the age of 42, I have a sister that was diagnosed at 25 and still in a nursing home, and another sister who was diagnosed at 38 and is also in a nursing home. The younger has been hospitalized for 11 years, and the other, for 3 years. I have one brother, 2 nieces and a nephew at risk. I will spare you the stories of childhood; anyone who grew up in the early 70's with an HD parent knows the tale. Now, on with my story…
When it began for me:
One day in 1985, I had my first twitch. Not a little twitch, but a full foot wiggle. I was lying on the couch; about to fall asleep when it happened. "What was that?" I thought. HD. My God, my first HD twitch. I was very scared but managed to reason it away as being tired. From that day on, I have had twitches. Usually eyelid twitches, sometimes a shoulder muscle wiggle, a leg muscle jumps. My big toe would twitch straight down when relaxed.
Over the years, I managed to stay calm about it and no one noticed, or at least, they said nothing and I wasn't asking. I stayed calm by reasoning that if it was HD, at least I was still functional. I wasn't getting angry at nothing like my mother did, I wasn't walking like I was drunk, and I was still in full control of my faculties. As the years wore on, I began to really worry about those twitches and checked myself constantly. I'd hold my hand out and watch my fingers shake, I'd practice walking a straight line and even close my eyes and touch my nose. Could it be I had HD? I asked no one. I was not going to mention these symptoms to anybody.
Seven years ago when I met Tessa, I was a heavy drinker by anyone's standards. I would toss back 4 or 5 beers nightly, without fail. I easily did this for at least seven years. I was trying to self medicate and I knew it. Tessa realized I was a drinker and in my family, on my father's side, drinking is a family tradition. All this time Tessa suspected nothing. She knew about HD and my at-risk status soon after we met. She really had no idea what she was in for. Through the next few years after I met Tessa, my oldest sister was declining from HD. We very rarely visited her; she made me uncomfortable and it was a very powerful mirror to look into. Tessa had a general idea of what HD was like. In all this time, I had not seen my other sister who was in a nursing home for 3 years when I met Tessa, in spite of the fact that I lived less than a mile from the home.
Three years after Tessa and I met, we moved to Indianapolis, IN. I still had the twitches but was very good at my job. My aunt, who lived across town, was a caregiver for her husband and several of their children (all now deceased). My father always thought I should visit her, but I made excuses because I knew she would see the HD in me. I had a recently diagnosed cousin there who I never visited, also.
It was about this time that I really started to worry. Over those 3 years, it seemed to me that I was getting moodier. I was constantly asking myself, "Would you normally be angry about this situation?" I noticed I was tired much easier and this worried me also. We were in the process of moving to South Carolina when I felt something in the left side of my chest. I didn't think it was my heart but I did all of the tests anyway and nothing showed. I thought to myself, "It must be strain on the central nervous system-HD." Still, I had not mentioned the possibility to anyone. I was also still self-medicating with the alcohol. No one suspected anything was wrong. How long was I going to be able to hide this from Tessa? We were in South Carolina for seven months when it happened.
It started with what I thought was a virus. For three days, I was going through a typical virus. When I returned to work however, something was definitely wrong. I would get a feeling of uneasiness and be slightly dizzy. This had happened several times before but I was always able to shake it off. Now, I couldn't. My supervisors where gracious enough to let me go home. This happened several days in a row. I took a few more days off; I was really scared. I tried to return to work once again and this time it was worse. I was assigned to put together a wiring harness at a bench top. For some reason, I could not concentrate. I felt disabled. My fingers started tingling and the tools felt cold in my hands. I panicked and have not returned to work since.
Tessa was out of town on business and I had no one to turn to. I came home and cried. "It's happening," I thought. "I'm at onset!" I had no idea of what to do next. I called a local Health Clinic. It was the first time I uttered the words out loud, "I think I have Huntington's Disease." The woman on the other end of the line told me, to see a General Practitioner first. By this time I was very scared. I went to the GP and told him that HD ran in the family and I thought I had it. He made me do the drunk test and recommended me to a Neurologist and gave me 20 5mg. Valiums. "WHAT HAD HE SEEN?"
When I got home, I lay on the bed and cried. "Poor Tessa, my dad, my brother; how would they deal with this?" I felt guilty for not letting Tessa out of the relationship before when I knew I had symptoms. She never wanted out, but I was miserable for her. My neurologist appointment was set for October 27. I was depressed and very scared. When Tessa returned that evening I had to tell her. She cried right along with me and said she was in for the long haul. My incredible fortune; I probably couldn't have continued on without her.
The next day I got on the Internet and started searching. Someone had to be able to help me. One of the first places I found was the MGH Chat room for Huntington's Disease. Pat, Lynn [Marsha] and Carmen were in the room. I was a wreck at this point. They calmed me down and made me realize that they would always be there for me. I can not express what that initial chat did for me. Pat kept saying it wasn't HD (I didn't believe her, but it sounded good), Carmen was just as soothing and calming as a person could be, and Lynn's enthusiasm was contagious and refreshing. What great people I had found! Man, maybe I wasn't going to be alone in this. I had to calm down. I decided that knowledge was power.
Over the next few weeks, I absorbed as much info as a mind can take. I have tons of info stored in my head about HD. I also stumbled on to a girl in SC that was the financial secretary for the South Carolina Huntington's Disease Association. I e-mailed her and we met for lunch along with the president of the association. They both said that I wasn't displaying symptoms. But I was on the inside, I KNEW. Jill, the president graciously offered to pay for the testing and recommended I go to a different Neurologist in Columbia, SC for the testing through a genetic counselor named Ruth Abramson. Well, now we are getting somewhere…It was scheduled for November 12. A longer wait!
All this time, I am still soaking up info on the Internet. I found the Lighthouse and read people's stories. Andy's story, to me described my life, except that he was a little further advanced. It was another confirmation; I had HD. I talked to others with HD and got on HUNT-DIS. Everything I heard confirmed my fears. I read up on tests being done. I drank 5 cups of green tea a day, had a teaspoon of creatine a day, took multi-vitamins and built my way up to 600mg of COQ10. I was trying to buy time. Anything to make me last until they find the CURE. I accomplished all of this before I ever started the testing procedure.
On the first visit to the Genetic Counselor, I had no idea what to expect. Tessa and I drove down to Columbia and I filled out the paperwork as we sat in the lobby. I was scared, and I needed to hear that I DID have HD. We went into a conference room with Ruth and I explained the symptoms and she said, "I don't see any signs of symptoms. I wanted to scream, "But I'm on the inside, do you think I would make this up?" She asked that if the Neurologist found that I was symptomatic, did I want to know? Without hesitation I said, "Yes." I also had 2 interns observing the whole process.
Next, Tessa went in a separate room and was to take the same battery of tests that I would. They comprised of word association, pointing to pages and counting, etc. I thought to myself, "Hell, I know I'm not that advanced." This took about an hour. Next was the Neurologist. A funny thing happened when I stepped in for the neurological exam; at that very moment I REALLY wanted to pass the exam. I concentrated hard to fool that guy. He had me do some hand tapping skills, follow his finger with my eyes and he watched me walk. He said he was done. I asked, "Am I or am I not symptomatic?" He smiled and said, "I see no symptoms of Huntington's." I thought to myself, "He doesn't know anything!" After all, my sister's weren't diagnosed until a blind man could see something was wrong. I decided the neurologist didn't want to give the bad news on the first meeting or he truly didn't know what he was doing!
After the neurological exam we returned to the conference room. Ruth explained that on the next visit, in one week, I needed to compile my family tree, write down what we would do before and after the test and write a paper on how the results would impact our lives. I would see the psychiatrist on the return visit to see if I could handle the test results. "In the meantime," she advised," Find a psychiatrist to get a grip on your anxiety attacks." Here is the paper I wrote on my results:
The Consequences of My DNA Test
In the final analysis, from a logical point of view, I suppose the test results are not as important to my day-to-day living. Regardless of a positive or negative result, I will still deal with financial, personal, and all other issues of life for as long as I can. The financial aspects would change in preparation of impeding health care costs, but logically, those costs could come regardless of my genetic status. There are, of course, other implications.
If found to have the gene: This would first confirm my belief that HD is diagnosed later than actual onset. In both of my sister's cases, the neurologist would not diagnose what was obvious to anyone in the HD community. I do believe there is a reluctance to diagnose this disease. I think neurologists are weary of diagnoses until they are absolutely positive. I don't blame them; they don't want it to be there either.
Realizing that a positive result only says that you will get HD and are not necessarily symptomatic is somewhat of a moot point with me. The fate is the same and has to be reckoned with, accordingly. To accept the diagnoses of not being symptomatic but having the gene, to me, is denial. That is not how I would want to approach this challenge. I choose to be in a combative mode for as long as possible. This meaning: arming myself with as much knowledge about the disease as possible, being a healthier person (which I should be, anyway), keeping very up to date on advancements and treatments, and participating in support groups. The theory here is to buy as much time as possible in hopes of effective treatment.
On this note, I must say, I don't believe there will ever be a cure for HD. I do believe there is a definite possibility of effective treatment and perhaps even a chance to stop progression. In the era of the brain, much advancement has been made. Now, with the links between Parkinson's, Alzheimer's, Huntington's and strokes being established, there is true incentive for companies to escalate genetic therapy and pharmaceuticals. I believe these treatments will be available in my lifetime! I would not have said this 10 years ago.
Secondly, a positive result affects my relationship with Tessa. I would have to depend on her for support. I would have to rely on her for decisions on drugs, financial matters, and what is best for the two of us. My contribution to the relationship would slowly decline as the disease advances. She would have to endure a lot. Her family, my family and friends would be affected. The ripple effect would be in full force.
Tessa knew of the disease, but I tried and succeeded in keeping her shielded from it. In hindsight, that was selfish, and probably a mistake. There is a lot of guilt associated with this disease. I worry for Tessa.
If found not to have the gene: In this scenario, I would be truly shocked. Therapy would definitely be in order. I would have to come to terms with worrying the past 37 years about this disease. I would have to deal with why I was so sure I had HD. I would have to learn to deal with the way I am without having HD to blame. Being at risk truly controls one's life. There is no escaping it. If I test negative, I would still consider myself with HD; Not gene positive, but it has controlled so much of my life, I can't >be without it. I still have 2 sisters hospitalized and a brother, 2 nieces and a nephew at risk. Don't get me wrong, I would be euphoric with a negative result. The burden lifted, life would be much easier to deal with. The future would definitely have a shine to it. I'm not saying all would be rosy, just a heavy weight taken off my back.
Regardless of outcome, I believe both Tessa and myself have a strong relationship that can endure a lot. I think we will still contemplate children, marriage, buying a home, etc. Decisions in these regards will come easier with closure on this chapter of our lives. So, as I said at the beginning, in many ways the DNA outcome is not the issue here. For me, We are talking about closure, acceptance, and peace of mind.
The first visit took four hours; the second visit took six. On the second visit we went over my family tree. I could see it in Ruth's eyes; I was doomed. No one had escaped HD for 7 generations. We went over the entire tree and discussed symptoms of each. I talked to the psychiatrist there and it was horrible. Trying to convince someone you don't know that you can handle results is hard. We discussed my childhood and my 2-pHD sisters. It wasn't easy. She told Ruth I could handle the results. Another person was ushered in to draw the blood. We were to personally deliver the samples to Federal Express. Close to the end of our visit, Ruth said, "Since you don't seem to be overtly displaying symptoms…" I never heard anything else. She had confirmed my self- diagnoses. I was able to hide the symptoms, so far!
As Tessa and I walked the steps to the Federal Express terminal, my knees were shaking. Tessa remarked about the "overtly" statement. She knew what it meant, also. I handed the samples to the Federal Express clerk and off it went. We drove home. I had to accept I had HD. I was told the results would come in 3 - 4 weeks. Good. I would have time to compose myself before we went home for Christmas. We had decided to tell everyone while home for the holidays that I had the genetic test and there was no denying it; I had HD.
Christmas came and went and no test results. I knew it. They were blowing me off because it was positive and they were afraid that with the usual holiday depressions, I would commit suicide. How dare they? I was furious. This was my life. Who knows what is best for another? I never for a minute, considered suicide. I'm a fighter. Just give me the news so I can plan and get on with my life! I can't express the agony of waiting! As far as I was concerned, she could e-mail or even fax the results. I was livid. Now, I would have to decide on whether to tell my family I was even testing. Christmas was going to be harder because of this, not easier!
We drove home for the holidays and suffered through without mention of HD or tests. I was hiding my symptoms well. Before we had gone home, I had finally got to see a Psychiatrist and he prescribed Luvox for me. The Luvox was horrible for me. The first day after I started I was getting a full foot wiggle, a full hand wiggle and the second day my head wobbled. I talked to Lynn in the MGH Chat room. I was very scared. The HD was advancing way faster than I thought it would. At this rate, I would be in a hospital before the year was over! She calmed me down. I later called the Psychiatrist and he prescribed Remeron which seems to have no side effects. When we arrived from our holiday visit, there was a message on the machine. I would get the results January 6, at 8:30 am. I called and confirmed the appointment. "Seven days to D-day."
By this time, I was positive that the results would prove I was at onset. I had also started to think that maybe I would test negative. I would quickly push that back. It was going to be positive. I thought well, I could live if it was in the gray area. No. That was just compensating. Face it, you have Huntington's Disease. I successfully numbed myself to the whole process. After all, it was merely a formality at this point.
We arrived at Columbia at 8:30 am. I was prepared for the worst. I was very, very scared. I could hardly walk. Ruth came out and advised us that our appointment had been changed! It was now for 11:00am. I couldn't even speak. I just got up and walked out of the building. Inside I was livid. "How dare she delay me another second?" All she had do to was say, "Positive" and I could move on. We left and ate breakfast and returned. At this stage, I would say mentally, I was a zombie. I could hardly hear anything. I was petrified. We went in to the conference room and sat down. I couldn't speak. I didn't look anyone in the eye.
Ruth went over our itinerary for the day and what the results meant to us. When she said, "and Ray, you said if the results were negative.." I choked back the tears. I was trying to stay in control. Inside I was screaming, "Just say it!" Then it came.
She said, "Ray, You know what the numbers mean, so I'll just let you read the results." She gently laid the paper in front of me. I looked down trying very hard to concentrate. I saw my name. I saw normal. I looked again. Normal! Then I read it. "Normal genotype at HD locus (16/17 CAG repeats)." I asked in disbelief, "It's negative?" Ruth responded, "You tell me." I started to speak but couldn't. I put my head on Tessa's shoulder and cried for a few minutes. The male intern there may have been just as happy as I was. I cannot explain the mixed emotions I felt at that moment. I really didn't hear much more of what Ruth had to say. I kept looking at and reading the whole report over and over. I chuckled, "Are you sure they didn't f*ck this up?' She said not. I was stunned. We said our thanks and drove home.
As soon as I got home, I jumped on the Internet to the MGH chat room and told the news. I sent the info out to Hunt-Dis. I was still very stunned and now, just four days after, am still stunned. I was very surprised at the out-pouring of emotions that others shared towards me. I was most touched by GERRY, a pHD who visits the chat room often. With all his troubles he was happy for me! It touches me in a way I cannot describe. Just typing those words brings me to tears. It is hard to believe the people you meet on the Internet and the genuine feelings we share with one another. I am eternally grateful for far too many people to mention who have shared some of their lives with me.
So, What now?
Thirty-seven years of being at risk is not easy to overcome. It will take time. And when I recover, I am planning to get very involved in the fight to CURE HD. Something has to be done. Awareness is the key. No one should have to face the ugliness of this disease. I will fight! As they say in my home state of West Virginia, "Ray's got a great big can 'o' whoop-ass and he is about to unleash it on HD"
For those considering testing, you have to realize you may not receive the news I did. The purpose of this story is not to encourage people to test. I would have never tested unless I was so sure I had HD. Everyone has to make that decision themselves. Good Luck if you take the route. The reason I wrote this is because I wanted those at-risk to know YOU could be WRONG!!!!!!
Love you all,
Ray HDW (Huntington's Disease Warrior)