by Shaker RS
My aunt died last week. (This turned out to be the initial event of the birthday week from hell, which also included a bout of pneumonia. Frankly, it didn't much hit me until this weekend, once I was feeling better and able to string together multiple coherent thoughts that didn't involve cough syrup or Kleenex.)
Aunt Jane was Dad's older sister by 14 years. She passed away at 66 after contracting the flu, which caused her kidneys to fail. While ordinarily the flu wouldn't be fatal to a 66 year old woman, aunt Jane was compromised—she had Huntington's Disease.
Huntingon's Disease is a progressive neurological disease. It affects gait, mood, speech, and mentation. It can cause stumbling, slurring, forgetfulness, mood swings (particularly anger and irritability), depression, and aphasia. It is currently untreatable. It is fatal. And it is hereditary. Huntington's Disease is genetically dominant - a child of an HD positive individual has a 50% chance of inheriting the disease. Symptoms often don't manifest until a person is into their mid30's to late 40s, so often they have already had children and possibly passed along the disease. That's what has happened in my family.
My beloved grandmother, who I thought was just odd when I was younger, was HD positive. Her gait was an odd, shuffling thing. She made jerky movements, often stumbling or dropping things. She fell several times, once breaking her wrist, once breaking her hip. The second time we moved her into an assisted living home, as she was having trouble caring for herself on a regular basis. As time went on, she had trouble recognizing us, communicating, and swallowing. She eventually was bedridden with a feeding tube. She passed away several years ago, and as far as I know was unable to recognize any of us when she did. Before she passed, she was tested for Huntington's Disease. Not because we needed to know for her sake, but my aunt Jane was beginning to show signs. We needed to know if that was a rule out for her. When the positive result came back, we had an answer for Jane. But what about the other siblings? Three other sisters and a brother had to decide whether to be tested.
While this might seem like a no-brainer, is it really? If you are past child-bearing, do you really want to know that you are going to die from an incurable disease, though nobody knows when? This is why testing for HD often involves a visit with a psychiatrist, to evaluate if you are emotionally capable of handling a positive diagnosis. And this is why my father chose not to go through with testing. I certainly don't blame him. Until this past week, I had mostly decided not to be tested, either. If we decided to have children, we would reevaluate. But there is even a center that will test fetuses prior to implantation for HD, and 1)not disclose if they find any positive ones and 2)only implant negative ones. We could (if we could afford it) be certain to have HD free children without me being tested.
My dad is past the age when most people start showing symptoms of HD, and he's doing great. As time goes on, we can say with greater confidence that he doesn't have it. And if he doesn't, I don't. But that's not feeling like enough right now. I want to be able to not be fearful every time I stumble, every time I drop something, every time I stutter. Or to know, for certain, that bad things will begin to happen to be, and to be able to plan for them.
I think about my aunt Jane's life. Her husband, Ron, is probably the classiest man I have ever met. He cared for her for the past 15 years when she really couldn't care for herself. He was selfless and loving and so supportive. Anything that could be done for Jane was, and he never talked to her like anyone less than the woman he loved. He fed her, changed her, pushed her in her wheelchair, took her to the lake to watch the sailing (which she loved!) and made certain that she knew she was loved and cared for. He kept a daily journal of what he did and when; how much she ate, what meds she took, what activities they did. But I will never forget the last page, from the day she died—"and then they took her away."
I want to know that my husband won't be alone if I should deteriorate, that he'll have someone to be there with him if they have to take me away. I'm terrified—scared of a positive answer, both for what it means for myself and my dad, as well as my extended family. But I'm exhausted from living with the what ifs, and sick to death of the fear. I want to know that I have made informed decisions about our future, rather then reactions out of anxiety and uncertainty. And I am holding onto hope. Hope for treatment for my other aunt, recently diagnosed. Hope for a cure for all those diagnosed but asymptomatic. Hope that there will be increased understanding on the behalf of employers, and increased responsibility on the part of insurers. I will not let this disease, that I may not have, rule my life any longer.
I am done being afraid.