So excited to connect across the world. Tracey is sending us this all the way from America! Here is her story:
30,000 people in America currently have Huntington’s Disease. That number seems somewhat large on its own, but when you consider the number of people living in America, 325.7 million, that 30,000 makes up only .01% of the population.
Now consider the odds of being a part of two completely unrelated families, both affected by Huntington’s Disease. It seems almost impossible, to the point where I don’t even know how to begin calculating the odds, but it happened to me. Here is my story:
My Grandma Sarah (Sally) was my adoptive dad’s mother. I cannot remember the sound of her voice - Huntington’s Disease took that from her. As a child, I can only remember a strained grunt that went along with a sweet smile and a distant sparkle in her eye every time that she saw my face. She actually died of pneumonia, related to her symptoms of HD. When you have HD, it is often hard to eat or swallow and you can get a bacterial infection in your lungs due to inhaling food, stomach acid, and saliva – also called aspiration pneumonia and is a common cause of death in HD.
Naturally, my dad was worried that he would inherit the gene, but as a young adult I remember feeling relieved – like I had somehow won the genetic lottery – at least in this case, because I was adopted into that family. My adoption was a closed adoption, meaning that my adoptive parents and myself would likely never know the identity or any information about my biological family. It was done through Catholic Family Services and truly the only thing that my parents knew about me when they found out they would have little baby girl is that I was born in America. My biological family jostled this vision a bit when they hired a private investigator to find me and contacted my parents and myself to let me know who they were when I was 18. Initially, the contact was minimal. I did meet both of my biological parents, who are not together anymore, and also some full-blood siblings with whom I still stay in contact with. I continued to live my life as though my adoptive family was all I knew.
Fast forward to me at 29 – I have the most amazing husband and two beautiful little boys. I am an assistant principal in the district I grew up in and everything seems to be going right. To top it off, my adoptive father tested gene-negative for Huntington’s Disease. Although my life seemed “picture perfect,” I have always felt a piece of that picture is missing; my heritage, my genetic history. I reached out to my biological mom to get more information about who I am and where I come from. She casually mentioned her mother, Carol, who died at 69 from breast cancer, but whom also had Huntington’s Disease. I literally dropped my phone. How could something be so nonchalantly talked about by one individual, while at the same time it shatters another individual’s world? She seemed unphased by it as I desperately pried for more information. Are you sure she had that? Are you sure it was breast cancer she passed away from? What was she like? Do you have other family members who have this? How is this possible? She must have thought I was completely crazy... but, I know this disease. I know it well. I watched it take everything my Grandma Sally was until it took her life, too. And suddenly, my whole world changed.
It was all I could think about. I had this looming sense of impending doom following me throughout my days and at the time, it seemed like no one else cared. My biological mom did have any interest in being tested for HD and my husband thought she was lying about it or misinformed all together. He also did not really understand the disease to the extent I did, because he never knew my Grandma or any of her siblings that had HD. For me, it was changing everything. I was worried about my boys, my future. I decided that I had to get tested for the gene to get rid of the unknown that constantly consumed my thoughts. I put everything in order before doing this - I secured my long-term disability at work, I opened a larger life-insurance policy, and I wrote a will. I made sure that anything that a possible gene-positive result would impact was taken care of.
Still, my husband thought was crazy. “Why are you doing this? It doesn’t matter. I’ll support you, but I don’t think it is necessary, your mom doesn’t know what she’s talking about.” Part of me hoped he was right and this test might just prove that. I went through the process- which seemed arduous and full of extra steps that separated me from knowing the truth when I wanted to immediately find out. There was counselling, endless signatures, detailed family history of which I could provide little, and more. Finally, the blood test was sent out. This disease is so rare that doctors who deal with it are only in our hospital once per month and you have to find out in person, so despite my results being back in the office, I had to wait a full month to find out.
I had an appointment on May 10th, 2018 to get my results. With me, I brought my adoptive dad and my husband as they recommended that you have people with you to support you. They called me back to the office and honestly, the social worker who we met with seemed very positive as my husband and I walked to her office. I was thinking to myself that maybe this was really all crazy and false... until she said “...your test came back with a positive result for Huntington’s Disease. You have a CAG repeat of 43 on one of your alleles.”
You know in war movies when a bomb has just gone off and they film the scene from a soldier’s point of view with this muffled absolute chaos and destruction going on around them and all the soldier can hear is a loud, confused ringing in their ears? That was me. My husband, who was in the room with me at the time burst into tears. The social worker explained a whole lot of information. My dad came back to the room and literally melted to the ground almost unable to breathe... yet all I remember is a feeling similar to that soldier. A muffled chaos. I don’t remember if I cried. I don’t remember another word she said to me.
For me, there was really no question of whether or not to be tested. I had seen what HD does to someone. I wanted to make informed choices moving forward, especially with children. I wanted to know. I wanted to be responsible. Looking back, I don’t think I would change this decision, because either way the unknown or the now known hangs over my life like a cloud. There was hope that it wasn’t true – and in this case a negative test would have relieved all of that for me. I think the hope, or the possibility of not inheriting the gene was worth it for me if that were to be the case, but unfortunately it wasn’t. HD is a part of every life decision I make. It is something that often forces me to “live like I’m dying” but at the same time mutes a happiness that was once such a strong part of my life.
It has not been a full year since I got my results. Since then, I have taken a lot of positive action toward Huntington’s Disease, especially in the field of research. I am involved in two clinical trials related to HD and I also started a small business called “Blue Bow Co” from which I donate all of my profits to the Huntington Study Group here in Rochester, NY. I participate in a local Huntington's Golf Tournament and I’m running in the Bill Lawler Huntington’s 5K this year. I contacted my local(ish) HSDA chapter to start a Hope walk here in Rochester, NY to raise further money and awareness toward a cure. I’m starting a blog, hopefully soon, where I can share my journey with the world and make even more people aware of a disease this rare. Everything I do is with the hope that my two boys will not have to worry about HD as a part of their future. Additionally, my husband and I applied for an IVF grant through Help Cure HD, which will hopefully support us in making some additions to our family in the future that are guaranteed to be free of Huntington’s Disease and the baggage that comes along with it.
I still have a lot of growing to do. I don’t think that the amount that I think about HD on a daily basis is healthy and I don’t think that the impact that knowing has had on my life and my husband’s life is as positive as I would have hoped for. I do know this will come with time and I have faith that with our continued efforts a CURE will come with time, as well.