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What It's Like to Test Positive for a Rare Disease and No One Understands How You Feel

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I was out for coffee with a girlfriend one afternoon, shortly after I was diagnosed as gene positive for Huntington’s disease (HD). We were sitting in large brown leather chairs next to an electric fire place, our coffees on a small table between us. “I am worried about getting sick and becoming a burden to my family. What if my husband leaves me?” I told her with a quiver in my voice.

It was hard for me to express my feelings out loud because doing so somehow made them more real. Just as I finished confiding my deepest fears she made an outrageous comment. “What are you so worried about? You could get hit by a bus tomorrow and die,” she said. I was stunned into silence by her hurtful remarks. I looked down at my coffee and took a sip of the bitter liquid in an attempt to hold back my tears.

Being diagnosed as gene positive for HD means that I have the genetic mutation that causes the disease. I will get the HD one day; I just don’t know when the symptoms will start.

A lot of people, including my girlfriend, didn’t understand why I was so concerned about my rare disease if I didn’t have it yet. Reactions like hers made me doubt my own feelings. Am I making a big deal out of nothing? I often thought to myself. Even though I didn’t have the disease yet, my diagnosis was dramatically affecting life.

At the time I found out my status, my husband and I were trying to have a baby. Suddenly we were faced with a huge dilemma. Did we want to risk passing HD along to our child? There was a 50 percent chance that our baby would inherit the disease from me. I could only imagine the guilt I would feel if that were to happen. If we got pregnant, we could test the fetus in-utero for HD. Another option was to spend thousands of dollars on in-vitro fertilization (IVF) with pre-implantation genetic diagnosis (PGD) to make sure our child didn’t have the disease. None of those options felt right and we were faced with an impossible decision.

To make matters more complicated, my dad was also diagnosed at the same time as me. I was so terrified of the disease, I became afraid of my dad. I started worrying that he was already showing symptoms and I avoided seeing him to protect my emotional well-being. I was having a hard enough time understanding my own feelings that I could barely take his in to consideration. I felt guilty that I was unable to support my own family.

Even through all of that I still questioned the validity of my feelings. Why am I so depressed when there is nothing wrong with me yet? I thought to myself. I got the answer to that question when I attended an HD support group with my husband.

The meeting took place in a large board room at our local hospital. It was being run by a young social worker who was pregnant at the time. I remember looking at her belly and wondering if she had to make the same moral decisions we were facing about creating our family. I spent most of the meeting sitting at the large grey table trying not to cry. It was towards the end of the two hours that I got up the nerve to ask a question that had been bothering me.

I looked towards the social worker and said, “I don’t understand why I am so depressed when I don’t even have it yet. How can I be so upset about something that might not happen for years?”
The counselor looked me in the eyes and said, “You are grieving the future you thought you had.” Suddenly my feelings made sense.

Not only was my future going to be impacted by this disease — my entire family’s would be affected. That also included the life of our unconceived child. If we somehow managed to spare our baby the disease, their life would still include watching me, their mom, live and suffer with HD.

I was not making a big deal out of nothing. There was plenty to think about.

Have you been faced with difficult decisions because of your genetic condition? Let us know in the comments below.

Originally published: December 20, 2019
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