Erin Paterson shares her experience of being gene positive for the rare Huntington disease, and how she is on a mission to positively impact other people’s lives by writing and speaking about genetic disease, depression and infertility in support of Huntington’s disease awareness day
When I rolled out of bed that Saturday morning my entire body was aching. A line of bruises ran along my swollen stomach and I felt dizzy for some reason. This must be a weird side effect from the medication, I thought to myself. Even though I only had thirty minutes to get ready I found it hard to get moving. I felt a familiar deep vibrating ball of energy in my chest. That was where my depression sat. It was a constant unwanted companion that I couldn’t seem to get rid of no matter how hard I tried. I got dressed and managed to eat a piece of buttered toast before leaving for the fertility clinic. My husband was working in the basement with the plumbers so I had to go by myself that morning.
I arrived at the clinic as soon as it opened but I was still there for an hour and half. I spent most of that time sitting on an uncomfortable moulded plastic chair in the dim waiting room, watching the headlines scroll across the screen on the 24 hour news channel. I was waiting for my turn to get a blood test and an ultrasound before meeting with the doctor. I was anxious to find out how our second round of in-vitro fertilization (IVF) with PGT-M was going. PGT-M is a test that can be performed on embryos to determine if they have a genetic disease.
I was diagnosed a gene positive for a Huntington Disease (HD) two years earlier. HD is a degenerative neurological condition that causes cognitive impairment, uncontrolled movements and emotional issues. As a carrier of the gene I know I will develop the disease but don’t know when the symptoms will appear. Along with my diagnosis came the knowledge that any child I conceived had a 50% chance of inheriting the disease from me. After receiving my test results I became terrified of my future and I fell into a deep and long lasting depression.
I questioned whether my life had value if I was just going to get a horrible disease and die. I felt that when I got sick I would become a burden to my family. I was worried that my husband would leave me and I would end up alone and unloved for the rest of my life. Most nights, as I was trying to fall asleep, I would lie in my husband’s arms crying. “Are you sure you still love me even with HD?” I would ask him.
“Yes of course I still love you” he would always reply as he wrapped his arms around me even tighter.
My diagnosis was so all consuming that I couldn’t see myself as anything other than someone who was going to get HD. I struggled to figure out how to move on with my life including what to do about having children. Would it be morally correct to have a child when there was a 50% chance of passing on the disease? Could I live with the guilt if my baby inherited HD from me?
Amidst all that anguish, depression and loss, my husband and I decided to have a baby despite the risk. If our child inherits HD there might be a cure for it by the time they grow up, I said to comfort myself as we tried to conceive month after month after month with no success.
Eventually we sought the help of a fertility doctor. We tried fertility treatments that were as minimally invasive as possible starting off with cycle monitoring, inter-uterine inseminations and more. Unfortunately none of the treatments worked and I was dealt a second medical blow in a short period of time, undiagnosed infertility. The only option left to try was an IVF with PGT-M.
When I finally left the fertility doctors that Saturday morning I was still feeling dizzy. I went through the drive thru on the way home and picked up coffee and donuts for the guys working in our basement. Immediately upon opening the front door I smelled sewage coming from downstairs. The pungent scent was making me gag. Turns out that the plumbers had discovered a cracked sewer pipe which they were in the process of fixing. I quickly placed the coffee and donuts at the top of the stairs and yelled down to let them know it was there before retreating back outside away from the smell. I slumped down on the front steps resting my head on the brick wall beside me, exhausted and dizzy. My coffee and donut sat next to me untouched. I probably shouldn’t have been driving today, I thought to myself. I didn’t ask my husband for a ride because that would be like admitting that I couldn’t handle it. As soon I acknowledged how hard it was I wasn’t sure if I would be able to keep doing it.
I received the results of our second IVF on a cool fall afternoon. I had the day off and was puttering around the house, doing the laundry, vacuuming and cleaning the dishes. I was anxiously awaiting a call from the clinic nurse with our pregnancy test results. When the phone rang that afternoon I was almost afraid to answer it. “Your test has come back negative. I am so sorry” she said.
“Ok. Thank you.” I managed to squeak out before hanging up the phone and collapsing onto the bed sobbing. I knew in that moment that I wouldn’t be able to continue doing fertility treatments. I was physically and emotionally drained. My husband and I were faced with another life altering choice. Did we want to live child free or try adopting to create our family?
I always knew that I was meant to be a mom and I didn’t want to give up on my dream. After giving it a lot of thought we decided to try adopting. Miraculously, five and a half years after we had started trying to have a baby we created our family through adoption.
When I was diagnosed as gene positive for HD and then shortly after with infertility I didn’t understand how I could ever be happy again. It was impossible to foresee a time when the pain would diminish. But I knew that I didn’t want those medical issues to ruin my life. I had the desire to find happiness again and made it my goal. I belonged to multiple support groups, I went through individual counselling, and I read memoirs about people struggling with similar things. I was constantly challenging my own thoughts and beliefs so I could keep pivoting until I made my dream of becoming a mom come true. Even once that happened I still had to do a lot more work. To learn to see the positives in my life, to view myself as more then my disease, to understand that my life has value even when I start to have symptoms of HD. It wasn’t until about ten years after my HD diagnosis that I finally felt that I reached a place of contentment.
I know that a lot of people are afraid to speak up about genetic diseases, infertility and depression. I kept those things a secret for a very long time because I was afraid of the consequences. I share my experiences because I want others going through similar things to know that they are not alone.
I have become a rare disease advocate. In the past 5 years I have spoken on podcasts and at HD conferences all over the world. I also wrote a memoir about going through genetic testing and how that impacted my path to parenthood called All Good Things: A Memoir About Genetic Testing Infertility and One Woman’s Relentless Search for Happiness. Something unexpected happened when my book was published, I felt a tremendous sense of relief, it was as if I didn’t have to hold on to those stories or that trauma so tightly anymore.
This feeling inspired me to open a publishing company so that I could help other people share their own stories in collaborative books. I gather people together from all over the world and teach them how to craft an engaging story that will empower others and help give their community a voice. The amazing thing about working on these books is that every day I am surrounded by people who want to help others and make a change in the world. My latest book is called Positively Rare and it features stories written by people from 21 rare disease communities including Huntington’s disease.
Becoming a patient advocate and getting more involved in the rare disease community has expanded who I am as a person by opening me up to so many new experiences and inspiring people. Even though it was terrifying, it is one of the best things I have ever done.
I encourage you to share your story and get involved in the community in what ever way feels good to you. Whether that is writing a blog, going to a conference, positing anonymously on social media, or talking to a friend over coffee. Making a connection with someone who truly understands what you’re going through because they are experiencing the same things can be life changing.
Huntington’s disease awareness day is on May 5th. This year I will be celebrating the beautiful and supportive community I am proud to be a part of.
Find out more about the collaborative books Erin has curated at https://lemonadecommunity.com/
LDA Research is an international medical marketing research company renowned for recruiting hard to reach respondents. https://ldaresearch.com/
If you would like to join our Rare Disease Network on Facebook please contact us.
You can listen to, or watch our Rare Together podcasts on Spotify, Apple or YouTube here: https://lnkd.in/e8TFYBme
