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My Experience Testing for Huntington’s Disease

Updated: Feb 26, 2023



Recently I had the opportunity to be on the Help4HD radio show, during this show I spoke about the testing process here in Northern Ireland, and my experience. Some people may think that it was a horrendous experience and disgusting that any young adult would be treated like this. Others would like I over reacted to the situation or I have portrayed it a dark light that would put people off.

I do apologize if this blog upsets anyone, and it may put them off testing, so I would like to say this at the beginning of the blog instead of the end.

The testing process for me was very negative and i ended up very upset, my life got turned upside down. The genetic testing lady said some hurtful things and questioned my life and life choices, I understand she was doing her job but i was under the influence that the counselor attending each meeting would help to get my view across and help me through the process. Just because I was let down by the health professionals during this difficult time it does not mean you will be.

Everyone has a different experience with testing, some have a smooth process and get their result, I did not finish the process and this blog will explain why.

This has been one of the most difficult blogs I have written to date and will probably write! I hope it gets my feelings and opinions across in a way that will help people to understand and help those wishing to get tested. Getting tested was one of the biggest decisions I ever made in my life and will make again! It is in recent times that I have been able to speak openly about the process and not get upset about it.

When I was 18 I decided to get tested for Huntington’s disease! It was a very tough decision and my mum wasn’t happy I had decided to do it, I understand now why, no mother would want to know their little girl was sick and especially with a disease that was incurable such as Huntington’s disease.

At this time in my life I was obsessed with Huntington’s disease and with little help and support out there ten years ago it was a difficult time for my family and i, there was little to no information on Google and I was not apart or as involved in the Huntington’s community as I am know.

I went to my doctor shortly after my 18th birthday and told him I wanted to get tested, this was my family doctor and had been my doctor since I was a child, he wished I would change my mind like most of my family but sent the letters through.

I received a letter to attend an appointment at Belfast city hospital, at this time I lived in Enniskillen with my grandparents in order to complete my A levels at southwest college, I was studying medical science, during this time I had became very close with my aunt and cousin. We were inseparable and done a lot together we went shopping, met with friends and went on nights out. They were family and I trusted them, but you cant always trust your family and i learnt this a lot over the next few years! Family is not who is a blood relation to you, just because they have the same blood in their veins it does not mean they our loyal to you or support you in decisions!

My aunt attended the appointment in Belfast with me but waited in the waiting room, in the later appointments i was told i had to have someone with me at all appointments, being 18 I was not happy about this, i wanted to do this alone but was not allowed without someone with me. I went to see was a genetic counsellor I believe, I can still remember her name but I will not mention it here as she deserves her privacy. At the appointment we discussed the process; I was able to attend future appointments in Enniskillen hospital as this was much closer, there were clinics around Northern Ireland I believe there was another in Bandbridge. We discussed my family and who had Huntington’s disease currently and who passed with the disease. To this date all I know is that my dad has it and that his mother had it. I believe some of dad’s uncles had it but I couldn’t be sure. I only knew my dad’s brother and sister and their families, we did not have a lot of contact with his family further out.

After this appointment I was under the impression that it would be three months until I had my answer’s I longed for. One appointment a month some questionnaires and a blood test. Simple!

I headed home and discussed the process with my mum after this and waited for my next letter to come in the post telling me what would come next. To save hassle at the time I still went to the doctor in Armagh and had all my post go to my mum’s as I was there weekly or someone came to Enniskillen.

I believe I started this process in September, and in June I was due to go to America to work on a summer camp for 9 weeks. I was also due to finish my A levels in June before I left.

During each of the appointments there were two ladies in the room, I believe it was a counsellor to help me with understanding what was happening and the other was the Genetic Doctor. I was asked questions which were extremely upsetting, I was asked did I move to Enniskillen to get away from the responsibilities I faced when caring for my father. My answer to this was that I moved to Enniskillen because I had plenty of family there and the number one reason was because the college done the course I wanted to study. I was being questioned about trying to better my life and get a worthwhile education! My aunt was attending the meetings with me as my mother lived hour away and worked full time, we spoke several times and came to an understanding that I would attend the meetings with my aunt who was supposed to provide support for me during the meetings and I would call my mum after each meeting.

I was asked in a meeting “do you and your mother have a good relationship? I’m curious as to why she does not come to the meetings with you”.  My mother is not only my mother she is my friend, she is my big sister, and she is my support system and has been for my entire life! Before each meeting I would speak with my mum, after each meeting I wouldn’t have made it to my car and i would be on the phone to her what had been said and how I felt.

I fully understand that this woman needed to find out as much about me as possible, but she wasn’t listening she was judging an immature 18 year old sitting in front of her! She would reduce me to tears with comments like the about and then wonder why I was crying!

When she asked me how I dealt with my father being tested positive, I answered honestly I explained that at the time I was not speaking with my father because of what Huntington’s had done to his mind. It was an extremely difficult time for the entire family, and at a young age i was drinking and going out to night clubs. When i say a young age i was 14/15 and I was going with friends each weekend to a night club almost an hour away where my other aunt lived. She saw this as a negative side on my behalf, I failed almost all my GCSE’s and was a mess! I can’t think of another way to describe it, I was in counselling in high school as well as anger management, I was getting detentions and isolation through 5th year in high school. This was extremely out of character, I was the biggest nerd in primary school and high school I was quiet and never stirred trouble, I even got beat up several times 1st to 3rd year because I didn’t stick up for myself!

I passed  two GCSE’s in high school (for those reading this form outside the UK you need to pass as many of the 9 exams you will sit in the final year of high school in order to progress into further education which means you can then sit more exams and continue to university). So i passed Music and English and was not able to progress into further education! My best friend in high school and for life! Sat me down one day and told me to “catch yourself on” she was my rock and got me through everything! Boyfriends and teachers annoying me, dad’s result and failing exams, she was there for everything and pushed me back on to the road I needed to be on. I love her dearly for this and will always love her; she is my rock and stood by me through everything, even when I wasn’t a very good friend back. I owe my education to her and I hope she knows this! I owe my strength to keep fighting to her!

After being a little brat for the last two years of high school i applied for a one year course in Armagh tech, I hated sport my entire life and yet i ended up doing a sports course which I passed with flying colours. After this I decided to apply to Enniskillen FE college to study medical science, this decision was made within a week, I called my granny and asked her to bring me into the college, jumped in the car with my brother one day he was going up and ended up signing up. I borrowed the £15 pounds to join off granny and went home to tell mum I had to move out at the end of the week.

Cutting this very short I studied my A levels and ended up with DDM which is like AAB! I think I done pretty good! I was offered an unconditional offer to University and had an amazing job in an accountancy firm!

I the first or was it second year of my A levels this is when the testing process was happening and it went belly up!

It was my second year because I remember the reason she did not want to test me was because she did not want it to affect my ability to complete my A levels, she did not want the test results to jeopardize my exams or coursework. I personally felt that I had proven that I was not stupid to make the same mistake twice and had a good support system to help me with whatever the result may be! She obviously did not agree.

I attended around 4 meetings I believe, one didn’t count because only one of the ladies was there, I was not told this! I was impatient and wanted to know whether I was going to have the gene and my life was going to be dramatically altered! I left every meeting in tears and it took me several days to get over what was discussed! At the first meeting I was told it would be one appointment a month, half way through I was told it would be one appointment every two months! If that’s the case it would take over 6 months for the testing process, how is this ok? How can you ask someone to wait 6 months or more for an answer on their health?

At the last appointment I attended, I was told that the decision was made for me to wait to June to get tested as I would have completed my A levels but then, I did not make this decision and did not agree with the decision made for me. I called a friend who was a Huntington’s nurse and also called the support worker for the Huntington’s disease association Northern Ireland and made the decision myself to pull out from the testing process.

The reason I made this decision was because they were not listening to me, I may have talked my father diagnosis rough, but I was a child I was 14 years old. I had grown up since then and turned my life around, they did not see it this way. No one was standing up for me, family or medical professionals sitting in that room! As I had flight booked to leave for America in June i decided it was not the best time, and I did not like how I was being treated!

After this experience I was left feeling betrayed and forgotten but the health care system, I did not received a call afterwards to see was I ok, I was misunderstood and was not listened to. Was it because I was 18 years old or did the woman have no social skills.  I went to America and enjoyed my summer! I don’t regret making the decision i made, do I wish I knew of course I do! It still haunts me that I may leave it world in the worst way imaginable. At least now I have a positive mindset with Huntington’s and I know there may be some hope with all the drug trials we are lucky to have!

As I said at the beginning this I believe was one of the most difficult blogs I have written. Testing is an extremely sensitive subject, especially for me because I feel I was let down by a lot of people when I first decided to get tested. In general it is extremely difficult to make the decision to get tested, if you get a positive result then you need to accept that and come to terms with it, it can and is an extremely difficult thing to do. If you get a negative result does not always mean that you can be happy, you may have other family members at risk, if I was to get a negative result I then have the worry about my brother, will he get a positive result or develop the disease. Will I become his carer as well as caring for my father? I have met many people or a variety of ages that have been tested negative and positive, I have met many people who feel jealous of those with negative results even if they haven’t been tested themselves. I suppose my main point of this blog is to let people know that no matter what your decision is,  it is your decision to make, I will urge you to take into consideration your loved ones and your current mental state of mind. I was told once that just because you go to you GP and ask to be referred to the specialist at no point is the process set in stone. You can pull away at any point of take a break because it can be emotional, if you attend 2 or 3 appointments you can pause it for a while, you can take some time to think if this is truly what you want to do. Just because you have blood taken, and complete the process it does not mean you have to get the results, you can decide that you don’t want to know at the end of the process.

I personally will be getting tested sometime in the near future, I got half way through it the first time and I hope to complete it this time with the support from family and friends and I will not be treated the same way I was the last time. I will speak up, and stand up for myself. No one will pick holes in my life and in my life decisions I will not be made feel like I can’t cope or did not cope with the difficult times I faced as a child and young adult.

I hope i have remembered everything and portrayed it in a way people can understand. I do apologize that this is an extremely negative blog and may put some people off! If you want to get tested, that’s great you have made that decision, why not use this blog as a guide on how to make your testing process a positive one!

Always remember no one knows you better than you.

As always my blogs are my own personal views and thoughts, stay strong and keep you head up! And if anyone would like to reach out to me I would love to hear from others.

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