For some people in the Huntington's community, results are not as simple as positive or negative and they receive a 'grey area' result.

We spoke to Beth about how she felt after finding out she has an 'intermediate allele' result which although classed as a negative result, falls into the 'grey area'.

Tell us a little about you and your background

"I grew up as part of a small family where music, church, and Girlguiding played a huge part in our lives. Childhood seemed very normal and affirming. Serious illness was something which happened in other families, not ours. The back story of the family, particularly where Huntington’s Disease is concerned, was never spoken about, and as the years went by I discovered that some relatives preferred to keep it that way. I have been a Church of England priest for nearly twenty eight years. For many of those years, living ‘at risk’, I was frequently reminded of my own mortality as I ministered to the sick, buried the dead and comforted the bereaved."

When did you first know that Huntington’s disease affected your family?

"As a young child I was aware that my grandmother (who died before I was born) had suffered from ‘something neurological’, at least that is how it was described to me. I asked no questions at that age and wasn’t offered any other details by my family. My father first showed signs of Huntington’s when I was about thirteen, with his diagnosis when I was fourteen. It was another five years before I was actually told what it was called, and what its implications were for him and for me.

I could see my father gradually deteriorating. The father I had known as a child was becoming a shadow of his former self and the father / daughter relationship was changing. Whenever I came across a medical book (this is before the days of the internet!) I would try to glean some more information about the illness. By now I knew of its hereditary nature and of the danger that lurked ahead."

How did you find the whole counselling and testing process?

"After many years of deciding I didn’t want to know my genetic status, I finally decided in my forties that it would be useful to know, in order to make wise decisions about future employment, so I plucked up the courage to ask my GP about taking the genetic test. It was one of those add-on comments as my routine appointment was coming to an end: “While I’m here…” I remember sitting in slight trepidation in my own home waiting for the first visit of the genetics nurse, wondering what I had let myself in for. I hadn’t told my family I was doing this, so it felt rather secretive. This first appointment was largely about the genetics nurse building a picture of my family tree and explaining some of the science behind the genetics. I have never had a scientific brain, so it’s interesting that I had to ask for some clarification again on results day. I found the genetics nurse to be very approachable, empathetic and supportive. We arranged the date for our next meeting, and left me to think and read further. The second visit took place at the hospital, naturally a more clinical and less homely setting. I was expecting this to be my second of three sessions. The nurse checked that I understood everything clearly, allowed me to ask questions, and generally wanted to check that I had had time to think through the decision to take a test and wasn’t rushing into it. She wanted to know that I was emotionally and mentally stable enough to receive whatever result came my way. I’m not sure whether it was my age, the number of years I had waited to do this, the nature of my day job, or my acting skills on the day, but at the end of that second meeting she deemed that I was ready for testing…and to my great shock, suggested taking the blood there and then! This was almost as big a shock as the result itself. Whilst I could have gone away and come back again, I decided to grasp the opportunity. It was made clear to me that I could still decide not to receive my results. That made all the difference in deciding to having the blood taken so soon."

Had you heard of the grey area before you got your results and what were you told upon receiving them?

"I’m pretty sure I had read something about the grey area beforehand. I probably focused more on the scenario of reduced penetrance than the intermediate allele. As I entered the hospital room for my results, full of fear, I heard the nurse say, “It’s good news”. I actually didn’t take in what she said next. I was desperately listening out for the word ‘negative’ but I couldn’t hear it. She must have described it in a different way, but that was the only word I was hoping to hear. After the confusion came shock and disbelief – I had prepared myself for a very different outcome. With my brain and heart racing each other to find a resting place, the nurse then began to explain that my result was actually in the grey area. Whilst I wouldn’t develop Huntington’s disease myself, there was the smallest of chances that I could still pass it on if I had children. The small print of my test report noted just two cases ever recorded of the CAG repeat expanding back into the danger zone. This was such a tiny statistic that I quickly overlooked it. I had enough to deal with, getting used to no longer being ‘at risk’. The confusion wasn’t yet over. My poor science was revealed as I had to be re-taught that one copy of your gene comes from your father and one from your mother. I was told that my intermediate allele was very unlikely to have come from my father’s expanded copy of the gene. This made (and still makes) no sense to me whatsoever. Surely this was just an extreme example of the way in which the length of CAG repeats can expand and contract between generations."

How did you feel after getting your results, do you think you were given enough information and offered enough support? Has it changed how you plan your future?

"The negative result took a long time to sink in, as so much of the ‘at risk’ identity, which I had carried for years, now had to be redefined. I didn’t receive much follow up at the time, certainly nothing in relation to the intermediate allele that I recall. I think that the genetics nurse made assumptions about me, due to my job, that I would be alright, and left it for me to contact her if I needed anything. This assumption probably shouldn’t have been made. Several years on, I have recently completed a dissertation for a Masters Degree in Christian Spirituality where I explored life beyond trauma through the lens of a negative genetic test result."

Do you use the Huntington’s Disease Association services? 

"I used to be an active member of a branch, but having moved several times since then, have not been involved at a local level. I do look fairly frequently at the website and find it useful to be part of the Kim’s Friends group on Facebook."

What would you like to see going forward for people who get an intermediate allele result?

"It is good that more is being written about this now. I’m sure that as statistics grow and patterns emerge for how the gene is passed on, there will be greater understanding. At the point of receiving results there certainly needs to be plenty of time given for the different pieces of news to sink in. For those receiving an intermediate allele result, they need to be able to process the ‘negative’ side of the result first, before contemplating the grey area. One of the things I took away with me from my dissertation is the importance of telling one’s story, whether that is the story of a positive, negative or ‘grey area’ result. Within the worldwide Huntington's disease family we each carry our Huntington's identity and story. I am grateful for the opportunity to tell mine."

Thank you to Beth for sharing her story with us.

If you are affected by Huntington’s disease and are in need of support or advice, please contact us on 0151 331 5444 or email info@hda.org.uk. Our dedicated phone line is open 9 am – 5 pm, Monday – Friday.

Please visit our Huntington's disease genetics page for more information on the grey area or visit our tested negative page to find out more about how we can support you.