November 15, 2019

My Huntington's Journey: by Jami, 26, North Carolina.

My dad passed away my senior year of high school. We didn’t have a relationship.

The same semester, I was in Anatomy class when my teacher wrote “Huntington’s Disease” on the whiteboard. She explained that this disease can be passed down through dominant genes in your DNA. I remember the moment it clicked. My dad died from Huntington’s Disease.

I waited until the lecture was over and my teacher was back at her desk to approach her and tell her what I had just learned. We Googled my father’s obituary and confirmed... He died from HD and that’s when it hit me, “I’m at risk.”

Those of you not familiar with HD, the formal definition is “a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain”. A common comparison of HD is having ALS, Alzheimer’s and Parkinson’s all at once.

I’d say fast forward but please don’t mistake the missing part of this story to be without pain and fear. So much fear.

9 years later I find myself successful in my career and in a happy relationship. It’s time to start a family. I want to give a family to the man I love so much. He deserves a beautiful family.


Personally, I feel that I cannot simply go through IVF and PGD because of a 50% chance that I may pass down the gene, because there is a 50% chance that it was not necessary at all. Getting tested became a priority.

The testing process was a blur, mostly because there was so much anxiety. It’s hard for me to recall and write it down because it hurts to think about, but for what I can recall, I was in limbo. I was scared of all the steps. I was scared of the counselling and the timeline. It’s my body. It is my right to know what is in my DNA.

I made the appointment in early 2019 for October 4th. Finally, I will meet with the best HD specialist in North Carolina. I had made an appointment with him previously and cancelled it. I will go this time. Dr. Scott and his team made this process what it needed to be for me. It was straight and to the point. I want my results so I can start planning.

The first visit consisted of physical and psychological evaluations. The second appointment was another psychological evaluations and the blood draw. A week later the lab processed the check I sent with the blood draw. They had received my sample. The result would be ready soon I knew.

I won’t bore you with my angst for the next 4 weeks, but to put it simply, it was torturous.

November 12, 2019. A day that will be forever etched in my memory.

It was raining, hard. It was freezing. I got up to walk the dog. Feed the dog. Shower. Pick up a few things around the house. Anything to keep my mind off of the news that I was about to receive, but still, it was hard to breathe.

By the time I walked in to the doctor’s office, I could barely stand. I went to check-in. To tell them I was there. I leaned on the receptionist desk for stability. I can’t remember walking back up when my name was called. The next thing I remember clearly was the white and bright exam room.

There were only 2 chairs in it. My mom and I sat down and looked at one another sharing the same hesitation as there was nowhere for the doctor and social worker to sit. Less than a minute later the social worker came in. I can’t remember what she said. Something about the nasty weather and something about going to find the doctor. The two of them emerged together less than a minute later than that.

I’m not even sure if the door was closed before the doctor started unfolding two pieces of paper in his hand. And I am positive that the words “your results came back and they’re negative” came out before he completely unfolded the papers. I responded “What?” My mother responded by screaming crying and wrapping me in a hug. The four of us exchanged pleasantries and less than a minute later, we were headed out of Duke Neurology for the last time.

I remember walking out smiling. Before, I had analyzed every single person’s face in the waiting room at my prior appointments. Patients, family members, caregivers. Wondering why they were there. Wondering if I would run into them again in the waiting room or even regularly in the future. When I walked out smiling, I observed their faces again. I hoped they could all translate my smile. To understand with me that I would never run into them in a waiting room again. At least not this one. And I hoped they would be happy for me. I was happy for me.

For the rest of the day I couldn’t find many words. “I can’t believe it” I repeated over and over. Also “I am normal” “I get to live”. The next morning I woke up and could breathe deeper than I had been able to in nine years. I didn’t realize I could breathe this deep but I no longer have the weight of the world on my chest.  

I keep forgetting that I am HD negative. It happened so quickly. But remembering again and again and again that I am ok. That I am normal. That I have the same shot at life as everyone else. I am elated every time. And indescribable joy.

Today I am thankful that I get to have children naturally. I will never take this for granted for this is the reason I got tested. I am thankful that I have access to the insurance I need. Every time I look my family and my dog (child) I remember again. I remember that I no longer have to be scared to get old. To be scared when my eye twitches or when I get bad anxiety.

So many fears that built up over 9 years of not knowing. I get to let them go. But not all at once. It doesn’t work that way. I have to remember the fear, remember that I never have to face that fear. Day by day.  

I share this to bring awareness. To introduce myself to anyone in need of someone. Most importantly, I share this to thank the ones helped me remember the moral of this story the entire journey (Ian, Mom,  Giana, Meagan, my dog and @championsforhd, @shelby_lentz, @danifofanii, @campaignformybrain, @thehdqueen). The most beautiful thing is, my journey is just beginning.


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