Huntington’s disease, behind the test

Hereditary conditions can pose a flurry of questions within a family. Could you get a similar condition? Will your loved one? In some cases, genetic testing might be the right answer, or, it might not be the route for you. Two women share their experiences of life impacted by Huntington’s disease.

FOR

Huntington’s disease has always been a huge part of 22-year-old Ellis Kerton’s life. “I watched my grandma deteriorate from before I can remember, and I would often be very confused over her actions and logic when I was young, and didn’t fully understand she was ill,” she remembers.

Growing older, Ellis began to understand the condition and it wasn’t long before Ellis’ father tested positive, too.

Having a very open family, who never sheltered Ellis from the reality of life with Huntington’s, Ellis understood the familial risks, which she credits to helping her come to terms with receiving her own positive test results, just one year after losing her grandmother to the condition.

Through genetic counselling – where trained professionals can help you process the 50/50 chance of having a faulty gene or if genetic testing is right for you – Ellis was supported and given in-depth information on the benefits and drawbacks of being tested.

“Having grown up with the illness being a massive part of my life, I had already spent so many years, often days upon days, trying to decide whether or not I wanted to be tested,” she explains.

“Therefore, I had already made my mind up before entering the process that it was what I wanted, and needed, to do for myself.”

Feeling as though the unknown had a dark hold over her life, Ellis decided it was right for her to take the test. “The disease can impact so many various parts of your life and I wanted to be able to limit the impact it could have on mine.

“I knew that as a young female who one day would potentially want children, I had to take control of the situation for myself and my future,” Ellis continues. “Now I’ve been tested I can plan for my future as I need to and enjoy every moment as best I can, and see the world while I’m still young.”

I’ve always said that even though I got a positive result and the first few days I was numb, it lifted a massive cloud. I didn’t have to live life in the dark anymore questioning every twitch or stumble and could live properly.

“Now, I have signed up to the drug trials list and go annually to be assessed and know for sure that none of it is Huntington’s, which again gives me the feeling of being in control of the situation.”

Testing positive just three days prior to her participation in the Great North Run and a marathon 17 days later, Ellis continues living with hope that a cure will be found and has put her all into fundraising.

AGAINST

At the age of 25, Clare Williamson’s father was diagnosed with Huntington’s disease when he was only in his late 40s.

“I have lived my entire adult life watching people with Huntington’s disease, and it has been hard,” says Clare, who, after ten years of deliberation, decided against genetic testing.

“Every day you do think you’ve got the disease. Every day I do something clumsy, I trip, or I’m forgetful – I’m left thinking I’ve got it and you overthink something and get angry.

“This is what my dad would do, so then I get more worried; or I notice my fingers moving and I wonder, ‘is this it starting?’ It’s just constant,” she adds.

Having spent time with genetic counsellors, Clare has discussed her options thoroughly and, for her own situation, feels she is living a full, happy life holding hope that a cure or medication will get introduced.

Clare continues: “Maybe, eventually, I would come around [to a positive result], but I think I would be really depressed. Others will know what to do, they will know to plan and do all these amazing things with the time and use it in that way.”

However, Clare believes that knowing for sure could put her mind into a dark place.

“I can understand the other side – people can plan their lives better,” says Clare. “However, for me, the way I plan my life, with my dad dying, is to live every day as happily as possible.

“I’ve learned over the years that I can let what I’ve seen or been through drag me right down, but I choose to live life to the full because that’s what my dad would have wanted, and I want to ensure my son has the best life, too.”

Support from her specialist Huntington’s disease adviser (SHDA), who has worked closely with Clare for over a decade, and HDA, Clare and her family are thriving through the guidance made available to them.

ADVICE

There is no right or wrong answer to genetic testing: it is all personal and relative to your own situations.

Support and guidance is readily available from organisations such as the Huntington’s Disease Association to help assist you in coming to a decision that is right for you.

And your own decision is the most important factor.

And Ellis agrees wholeheartedly with Clare. “Do whatever is best for you. There are so many people around you who have so many different beliefs, but only you can make the final decision.

From her own experiences, Clare fervently advises: “Some people might have the test and not tell anyone – that does happen. It might be something you do and keep to yourself and never tell anyone, but it needs to be your decision. It is your life; your personal choice.”

“It’s you that has to live with that question, or the result, not anyone else, so only you can make that decision.”

Genetic testing is available to people aged 18 and over, and will take place at Regional Genetics Clinics – you can ask your GP to make an appointment for you.

Even if you have a test booked, you can change your mind at any ti me and remove yourself from the testing process. When you do get results follow-up counselling will be made available

Support and further information is available from Huntington’s Disease Association,by emailing info@hda.org.uk or call 0151 331 5444. More information on symptoms can be obtained through the NHS.

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