If you were slowly dying of a rare incurable disease, wouldn’t you want to know? Knowing is where my journey with Huntington disease (HD) begins.
My mother’s sister was having some serious issues. She was depressed, angry, forgetful, and just not herself. After some time, she ended up divorced and found herself lashing out at other family members. She started to become less responsible than she had been in the past and had trouble providing for herself.
One of her sisters opened her home to help her out. While staying there, her sister noticed changes that didn’t seem normal. My aunt was losing weight, stumbled a lot and her speech was starting to get a little more difficult to understand.
After seeing several doctors, they found a doctor who wanted to run a test for HD. When it came back positive for HD, it answered all our questions. Her brain was slowly deteriorating and had been for years. It wasn’t long after her diagnosis that she needed full-time care. She was a resident in a care facility by the time she was in her late 50s.
When I heard that my aunt had been diagnosed with a rare disease, I started researching. I found a wide variety of very troubling symptoms. Some of the symptoms described in the beginning stages of HD were exactly like what I had been experiencing in my own life. My first reaction was that I should get tested to make sure I didn’t have this disease.
I went to my family doctor, and he said that this disease is so rare that there was no point in testing for it because the chances that I would have it would be so low. A couple of years went by and the problems I was having grew worse.
Read more about HD diagnosis
I was angry all the time, showing signs of depression, anxiety, short-term memory loss, trouble with motor skills, and insomnia. None of these symptoms were drastic in the beginning. It wasn’t until my thoughts and anger started to get out of control that we realized there was a serious problem. I had a few instances where I couldn’t control my temper and I did not act like myself. It got bad once in particular and I decided it was time to get to the bottom of this.
I went back to the doctor and had a breakdown in the office. I was basically begging to be referred somewhere that testing could be done to get to the root of this problem. Once I was referred to a neurologist, the first test that was run was for Huntington’s. Waiting to get in to see a neurologist, getting tested, and waiting for the results took another 7 months.
In July of 2020, I was diagnosed with HD. My response to the news was to immediately go into planning mode. I needed to make sure that my family was going to be ok. I had been experiencing symptoms for a few years by this time, so I felt like I had to start making decisions right away before this got worse.
Since this is hereditary, my first call was to my mom to let her know she needed testing and possibly medication or care for the future. She told me that she was sure that she didn’t have HD. I asked how she knew, and she said her doctor told her she didn’t have it. I asked if her doctor ran any tests to find out. She said no, the doctor just examined her and told her she didn’t have it.
I was shocked. You cannot determine if someone has HD by a simple physical exam. It is commonly misdiagnosed. My mother was initially in denial as many people are, but she tested positive for HD as well. She was also having symptoms but had no idea that it was caused by HD.
Why was it so important that I know? First of all, I needed medication that I had not been prescribed yet. This medication has controlled my depression and anger allowing me to think clearly and make better decisions. I also needed to make plans for my future care and the future of my family.
My wife and I made the incredibly difficult decision to sell our home. We had to put ourselves in a better position financially to be ready for this. We spent a year reorganizing our lives to accommodate changes happening because of HD. I learned that HD changes a person completely. It starts with uncontrolled emotions and changes in personality. You may not be able to describe what specifically has changed but people close to you may notice that you are not yourself.
HD starts so slowly and gradually that many people with HD will make poor choices, lack impulse control, and have anger outbursts. All of these symptoms can lead to major changes in a person’s life. A lot of people will alienate family and friends when they can’t understand why you have changed. This disease almost cost me my marriage. I also believe that getting diagnosed when I did, saved my life. I was in the beginning of a downward spiral that was getting worse. Getting a diagnosis allowed answers to be given and the proper medications to be prescribed.
