March 26, 2019

Sarah, 34. HD+

My name is Sarah. My Dad has HD and his Mum also had HD. 

I was about 10 years old when my Nanny died from HD. At that time we knew very little about it, but I clearly remember talking with Carol Dutton and being adamant that I wanted the test to see if I had the faulty gene when I realised I could be at risk. 

My Dad however always made out to us that he had tested negative for the faulty HD gene, so we didn’t really think anymore of it. 

Over the next 5 years my Dad was very difficult to live with, and by the time I was 16 Mum and Dad were getting divorced. We didn’t even suspect HD could be the cause of Dads’ behaviour. 

I lost contact with Dad when he moved out of our family home and I didn’t think much more of HD until I received a letter from the Genetics department at Gloucester Hospital saying they had some ‘family history’ that I should be aware of. I was 21 years old now. 

As soon sad I read the letter I knew what this meant, my brother and I were again at risk of HD. 

I made an appointment to see the local Genetics Counsellor and began the process of testing. This was a long process, but I was always adamant that not knowing for me was too hard, I just had to know. I guess I just so desperately hoped I would get a negative result and move on with my life... 

My family, especially my wonderful Mum, and friends were so supportive throughout. I couldn’t have gone through it without this support. Mum attended my appointments and was with me crucially on results day. 

Summer 2008. I felt I was prepared for my results day, but in reality, there is absolutely nothing to prepare you to hear ‘you have the faulty HD gene’ and a positive test. I crumbled into my Mum’s arms, and we just cried and cried. Jo, the counsellor, was incredible at this stage, and I couldn’t help thinking what a difficult job she has! 

I spent the rest of that day trying to come to terms with the news and I think one of the hardest things was telling my brother. He hadn’t had the test at this time. 

I cried a lot, my friends and family were so supportive it was quite overwhelming. I also felt guilty for causing pain to my Mum especially. Seeing them so upset, I couldn’t help thinking if I hadn’t tested nobody would be hurting as they are? 

Even with all these emotions, I was still ultimately relieved that I had tested, and I could move on with my life now. I just tried to carry on as normal immediately after. 

I do remember feeling very emotional in the days after testing, but I tried to focus on the good things in my life and that I was young and could hope for a cure in time to help me. 

A good friend and I both decided to book around the world ticket and go travelling, we would leave in October 2008, just a couple of months after my results. This was probably the best thing I did. I needed to get away and experience the World and I guess I wanted to throw myself into everything and not let my result hold me back. 

We travelled for about four months. During this time, I missed home madly but also thought I didn’t want to return home! I did return home, in Spring 2009. I just got back into work and everyday life. 

I was always keen to raise money for HD so decided to run Paris marathon in 2012. This for me was my therapy, I’m not a natural runner, but loved it, the training and the marathon! Every step I took meant so much to me. 

I also met my now Husband JP, in February 2012, he is my absolute rock. His reaction when I told him I had HD was incredible, I couldn’t have dreamt he would react so well towards me. We had only been together for a few weeks, but I just had to tell him as we were very serious about each other. I moved to Ireland to be with him in May 2012 and we married in April 2014! 

In 2013 I made contact with my Dad. He was suffering the late stages of HD by now. He was still in denial about having HD, so we just wouldn’t talk about it. There didn’t seem to be any point? 

My brother still hadn’t tested at this stage. He did in 2015 and thank goodness he tested negative. We were always so close, but unfortunately our relationship is strained at present. I truly hope this won’t always be the case.

JP and I decided we would only have a baby if we could ensure they wouldn’t be at risk of HD... so we decided to use PGD (pre-implantation genetic diagnosis) IVF. After 3 years of trying, our darling daughter Poppy was born in November 2017! She really is the most incredible little girl and melts my heart every day. 

I didn’t think I would have children, but having Poppy is the best thing we’ve ever done. 

I do worry about staying well long enough to look after Poppy, and longing to grow old with JP and watching our wonderful family grow, but I think I’d have similar feelings even without my HD diagnosis. I try and use my test result to make the most of every day and be very grateful for the small things in life. Sometimes I think I live my life more fully knowing I have the faulty HD gene. 

A million and one things could get me before HD does, so I just take each day as it comes! 

NB: More information on pre-implantation genetic diagnosis can be found in the “Useful Resources” section of the website.

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