By Jennifer Lewis
Few treatments. A life-altering diagnosis.
I wasn’t sure I ever wanted to be tested for Huntington’s disease (HD), a disorder that breaks down nerve cells in the brain. There was a 50 percent chance I inherited HD from my mother, who died from it when I was 19. Only one mutated copy of the gene from one parent is needed to cause the neurodegenerative disorder.
Although I was scared, I decided to be tested, and the journey to my results included much more than just a needle poke.
Even when I was very young, I tried my best to help take care of my mother. It broke my heart, and I can’t imagine what it did to hers. As I remembered my mother, I couldn’t decide if undergoing genetic testing was the right thing to do.
I knew I wouldn’t be able to unlearn the knowledge that if I carried the mutation, my brain would slowly deteriorate, or that I could eventually lose the ability to speak, move freely or remember. Although there are treatments for some symptoms, there is no cure. There’d be no way to stop its progression. And if I carried the mutation, there was a 50 percent chance my children did, too.
HD onset typically happens in a person’s 30s or 40s. In more rare cases, onset happens during childhood or adolescence, or much later, after the age of 80. The age of onset depends on the number of times the DNA repeat has expanded. The longer the expansion, the earlier the symptoms of the disease surface.
If any part of my body twitched or if I lost my balance, I was sure it was a sign I had what took my mother. I was scared and convinced I had HD.
In 1993, when the genetic mutation causing Huntington’s was discovered, it was anticipated that many people who knew they were at risk would want to be tested. They’d no longer be uncertain, and they’d know what they were facing or would face.
But since the test became available, only about 10 to 15 percent of people at risk have been tested, and that percentage hasn’t changed much over time. Most decide not to be tested due to the lack of effective treatment.
I set up the testing process so many times and kept backing out. Finally, in October of 2016, I stuck to it.
This was not a simple blood test. Before I could get my results, I saw a psychologist, psychiatrist, neurologist and a genetic counselor. All minds combined had to agree that I was ready to receive my results, no matter what they were. Fortunately, I passed all my tests within a couple of months, but in some cases, people wait years!
On Dec. 30, 2016, I met with my genetic counselor, Katheen Delp, at Spectrum in Grand Rapids. I was anxious beyond compare.
“Well, the weather must not have made for a good drive,” she said when I arrived. It had snowed heavily the entire way. I wanted to grab her, shake her and say, “JUST TELL ME!”
“Jennifer, you do not carry the HD gene and will not be affected by Huntington’s,” she said then.
“Your children are both safe.”
HOLY WHAT??!! I was sure I had every symptom and CONVINCED I had this disease. I couldn’t believe it. At first I felt relieved, like a huge weight had been lifted off my shoulders. But then, I felt sad for those living with the disease and for others out there still at risk.
Every year, I lead Traverse City’s Team Hope Walk, a Huntington’s Disease Society of America fundraiser, to support those affected by the disease. Sometimes, I feel guilty for not having the disease. I am a healthy, middle-aged woman, and I worry that the people I see at the walk are jealous or angry at me. I know I would be. Other times, I wonder if I should let someone else take over the walk.
But then I remember.
I lost my mother to this debilitating disease. My children never knew their grandmother. I know the heartache of caring for someone with Huntington’s, and I understand the fear of being at risk. I know what it’s like to lose someone to HD.
The Team Hope Walk is held annually, usually the first or second Saturday in August. We start at Sunset Park in Traverse City, and every year it gets bigger and bigger! This year was no exception.
I am fortunate to have an amazing support system, including my bonus family that took me in when I was in the process of losing my mom as a teenager. You’d never be able to tell that I wasn’t always theirs – I look more like my “Mama” than her own kids do, and my “Pops” loves me like his own.
There is no cure, but there is always hope.
Jennifer Lewis is grateful for her family, including children, Karlee (14) and Wesley (13), soon-to-be-husband, Jason, and his daughter, Emma (20). Lewis is general manager at the Omelette Shoppe in Traverse City. Email her at firstname.lastname@example.org for information on Huntington’s or to find support.