Climbing Snowdon for Huntington's Disease

The Huntington's Disease Association is a national charity supporting people affected by Huntington's disease (HD) across England and Wales. HD is hereditary; affects the central nervous system, damaging nerve cells in the brain causing them to stop working properly and is currently incurable. The damage to the brain cells gets worse over time. It can affect movement, cognition (perception, awareness, thinking, judgement) and mental health.

Caused by a faulty gene passed through families; each child of a parent with HD has a 50% chance of inheriting it. Through our national support network, publications, local branches, professional training, and social research funding we help people affected by HD live a better life.

My Story

‘You haven’t inherited the faulty gene, and you won’t go on to develop Huntington’s disease'

That was the news I was told on the 5th of April 2023. Although this was incredibly good news for me and my family, processing that as a genuine reality has been difficult. For context, my dad has the gene, which put me at a 50% chance of also having the faulty gene. I found out about Huntington’s being in the family when I was in my early teens. Since then, I’ve found some form of comfort and acceptance in believing I too would go on to develop it in my 50s and my life would change drastically from there onwards. I convinced myself that I would never be able to have a family, grow old with someone or reach retirement. I always wanted to have a family but believed that if I did, I wouldn't live long enough to watch them grow up, get married and for me to become a grandparent. I have lived my life the past 20 years believing I was positive for Huntington’s and feeling like I was on a countdown to 50, so to be given the unfathomable news that I was negative, is such a huge mental adjustment, it's like walking down a corridor for the past 20 years and only seeing one door at the end, but now all of a sudden hundreds of new doors are all now opening at the same time.

Up until the past 18 months I didn’t feel like I had to go for the test, I didn’t feel like I needed to know that information at that time in my life. I saw having the test as a death sentence. I got married to my wife Kayleigh in 2019, who I had confided in about my situation very early on in our relationship; she understood my predicament with Huntington’s and embraced it all with open arms. However, I’ve always wanted children, I may not have known what career I wanted, but I knew I always wanted children. We found out there was a way of having children without risking passing on the gene and without me needing to ever find out whether I had the gene. Non-disclosure PGD with IVF. This was a long rollercoaster of a journey, but it resulted in our beautiful daughter Martha, who was born in October 2020. This process enabled us to start a family and ensure we had a HD-free baby all while not needing to find out my status.

Martha was our only HD-free embryo from our NHS-funded round of PGD, so we knew that we would eventually hit a crossroads if we wanted more children. PGD costs around £12,000-£14,000 privately, and there is no guarantee that this would work. In my head, my two options were to either get tested or accept that we weren’t going to have any more children. If I was positive, we could have done CVS, which involves testing in the womb at 12 weeks, however, that would mean terminating the pregnancy if the baby was positive. I don’t think I would have had it in me mentally to put our family through that.

Getting the test is such a mental drain in terms of deciding if it is the right time. You are made to attend 4 sessions with a genetic counsellor spaced out over 6-12 months to ensure you are mentally strong enough to handle the outcome, and even after you have been for the test, you must wait 4-6 weeks to get your results. To be honest, I don’t think there is ever a right time to get tested, but I knew that finding out at this time would help us as a family better prepare and plan for the future.

To be given the news that I was negative was something I have never entertained. I walked into that clinic room at the hospital expecting to hear “I’m sorry but you have the gene”. When I heard that I was negative my first thought was to ask for a retest. I am still trying to get my head around the results, and I think only time will help me adjust my way of thinking and hopefully someday soon I will allow myself to enjoy the result.

This is a brief rundown of my story with Huntington’s. Even though I have tested negative, Huntington’s Disease is still very much a part of my life and my story. My dad still has the faulty gene and after receiving my news, I wanted to do something, even if it is educating just one person. Huntington’s disease is something that not many people have heard about or know about, so I’m hoping by doing this, it will bring about more awareness of this horrible disease. There is so much good research and trials being done now and I am forever hopeful they will find a cure or a way of slowing down the process. I have decided to start trying to do small fundraising events for the Huntington’s Disease Association. A few friends and I, alongside my dad, will climb Snowdown in August. I know times are hard, but any donations (even if it’s just £1!) will be greatly appreciated and will go to an amazing cause.

Lastly, I would like to thank Dr Rhona MacLeod from St Mary’s Hospital in Manchester who has helped beyond measure over the past few years. She was our genetic counsellor who supported us through PGD through IVF and the testing process. She is a credit to her profession and supporting people through their Huntington’s journey.