March 26, 2019

Kelly, 33. HD-

Kelly is my big sister. She runs her own business and contributes £1 of all her sales to UCL, who pioneer the latest research into treatments for HD. The full blog to this along with others can be found at:

At the age of 18, I was given the devastating news my Mum suffered from this illness called Huntington’s Disease (an illness I’d never heard of) and watched as my Mum wept with guilt worrying about nothing other than her girls. From that day forward, I grew up. Something changed. Roles were reversed and your Mum is suddenly not just ‘Mum’ and you find yourself very aware of what you took for granted. I was lucky enough to be able to go to Uni and know Mum was only in the early stages. I went to University and pushed my test to the back of my mind. I was a happy go lucky girl and had the attitude that whatever happens, happens and I would take life as it came.

Fast forward 8 years and I was married and beginning to think about children. I must make it crystal clear that I do not judge anyone who decides to live their life as though HD is not in the equation. Many families continue to have children as normal. Nobody has the right to tell another how to live their life, or what is best. Some people live their lives trusting in the hands of God, and that is their prerogative, and you know what, there is nothing to prove that they are wrong to do that. That said, being at risk of HD throws up a whole host of questions for an individual.

My Mum’s brother tested negative meaning my cousins were no longer at risk, and my sister tested negative too. In my eyes, I had it. There was no way we all got away with it. I had spent 6 months counselling for the test which is the requirement, and just as I had got into the testing appointment, I freaked out and pushed the needle away declaring, ‘I just can’t, I’m not ready’.

Deflated and disappointed I went home and contemplated never having children. Being the last in the chain as it were, left me feeling a huge responsibility. If I didn’t have children, the family wouldn’t suffer anymore.

Again, fast forward 3 years, and I was back at the clinic. Divorced, living at home and convinced now was the time to know. I went with my best friend and told the genetic counsellor I was now ready. I told her, ‘I feel strong and independent, and figure I don’t want to enter a new relationship with this burden’. I had talked to someone that month who told me a story of a man in his 50’s who never tested, and when he did at 50 he found out he didn’t have it. He called it the ‘parrot on his shoulder’ and expressed a deep regret for how much of his life HD had stolen when it had never been there. This was the driving force for me to know now. Another lengthy 6-month process in which time I met Kevin and told myself I could do it. He knew from day one what my situation was and stuck by me, so now was the time.

Within a few months, I hit a huge wall. My business suffered its greatest financial strain, my support network suffered their own individual challenges. So once again, I decided to call off the test. This was perhaps the one time I couldn’t come to terms with backing out. I criticised myself each day for being such a coward.

Every positive action I could take I did. I even learned meditation in a bid to calm my mind and find myself…. And find myself I did. I became so in tune with where I really was, causing a complete meltdown out of nowhere one evening to Kev. I cried like I had never cried before I told him, ‘I just can’t do it Kev. I can do anything, I really can, but I just can’t do this’. Kev is a typical bloke and a massive pain in my arse most the time, but I really cannot fault him when it comes to my situation with HD. He was awesome. He scooped me up and gave me a massive cuddle. He said ‘It’s cool. Then you don’t test, and I still love you, and that’s what we’ll do’. I didn’t want to know. We would look into PGD (Pre-Implantation Genetic Diagnosis) and look to have children that way.

Another year whizzed by and my life went from strength to strength. The paperwork for PGD was in place and we had decided that would be what we did. Life was good. Then one day driving along, I suddenly had the thought….’I want to know’. Shit. Not again. But you know what, this time it was different. I just wanted to know, and I was ready.

Yet another trip to the genetic counsellor (who I was actually bantering with by this point over my indecisive nature) and the wheels were in motion. ‘Me again!’ I said. She beamed at me and said she was thrilled to see me so positive and happy but that she would prefer me to wait 6 months and check that every single day I woke up with the same viewpoint because as I’ve been reminded a thousand times, you cannot take that information back once you know.

Wind the movie forward again to November 16th this year. I was sat on the living room floor, packaging journals. I’d been feeling rough all week but with so many orders flooding in there was no time to waste. I just didn’t feel right. ‘Surely you’re not pregnant’ I thought. A trip to Asda, a pint of water and pee later, there I was gasping at 2 lines on a stick.

I had to test. This was a sign whatever it meant, and somehow doing it for someone else gave me a strength I hadn’t experienced before. We decided to keep it between us and few close friends and I called the clinic the next day. I told her I needed the test asap. They don’t test before Christmas for obvious reasons. ‘Jo, I’m pregnant… I need this test…now’. She called me back with an appointment the next day. My birthday.

At 2pm we left for the hospital. All the way there I didn’t talk. I just thought about that bad result over and over again. I was pretty smug following that moment after my test and felt like an absolute boss for seeing it through.

The two weeks leading up to my results was an experience I will never ever forget. I am not exaggerating when I say that the words ‘It’s bad news’ did not leave my mind for one moment. I physically felt like my brain was going to implode.

After what felt like a year, results day was here. I kept it together right up until we saw the door to the clinic. My breath was literally pulled from my chest and I broke down, shaking and panting for breath. I was so scared. This was it, 13 years of waiting and wondering and now I was about to get the answer. That bad news was about to be confirmed. I always knew it was bad, I had been temperamental for months. I was so clumsy and had even scraped my car a few weeks prior. It had already started, and this was just the day I found out how aggressive it was.

Within seconds we were ushered into the room where the doctor held that all important piece of paper. My cheeks were hot, but my neck was cold. We took a seat, my eyes still glued to the floor clutching my bracelet and sobbing, and within seconds I heard the words ‘Good news. Your repeats were normal’. Before I could even finish Kev had grabbed my head and was uncontrollably sobbing with relief for me. I sat in complete and utter shock, shaking from head to toe. The bright lights of the hospital room made it feel like I was dreaming, and I found myself touching Kev’s face to check I was awake.

I should have been ecstatic. The thing is, I was so sure I had the disease, I never really prepared for life without it. It has taken, and is taking, some coming to terms with.

I remember a few days after my test, when it began to sink in, sobbing uncontrollably on a dog walk for the people I know who still have the disease. One of my dearest friends didn’t get the same news as me and I’ve really struggled to accept it. My Mum too, who is genuinely the sweetest person I know is suffering right now. It’s not fair. I felt the most intense guilt for being free. I felt undeservingly privileged. I now want to focus my energy on continuing to campaign and fundraise for a cure and know that all those I know with HD will be part of my life forever. I have to be an active part of helping others. We belong to a very special family; a group of people who know how precious life is. I will never give up the fight for a cure until the day I die.

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