Huntington's Disease

November 26th 2019, I got a WhatsApp message from someone I barely knew asking if I wanted to go on holiday in the following January. Without thinking I replied yes. The holiday happened and my world will never be the same again. Since then, my life has been the life I used to dream about, feelings and emotions never experienced before.

Last Tuesday, I sat in the Neurologist office with my eldest sister and the Neurologist said that her Huntington's test had come back positive. She burst into tears, not because she had just been told she had a rare genetic disorder that had no treatment, no cure and was fatal. She cried because the symptoms that people told her were in her head, were because of childhood trauma, were nothing to worry about, were ignored had a name and after seven years of deterioration she could now get real help. We sat there for an hour with the Neurologist discussing the past, the present and the future.

Our father is in a nursing home and we were never told he has Huntington's but now it's absolutely clear that he is in the late stages of Huntington's. I have submitted a request to get his medical records to find out if he had been formally diagnosed.

I am 51 and have a 50% chance of testing positive for Huntington's. Our brother and sisters all have a 50% chance of testing positive. My father has 22 grandchildren who will have a 50% chance of testing positive if their parent does.

For the last few days, I have been contemplating the consequences for myself and the only question at the moment is should I get tested. I am on medication because I have a lifelong companion called bipolar disorder. I live quite comfortably with my bipolar. The very early symptoms of Huntington's have a lot in common with the side effect profile of one of my meds.

My first thought was to ring the Blackrock Clinic and within 6 weeks I would know for sure. Surprisingly there is a very good support network for Huntington's here in Ireland. I have very good support. My partner can laugh and joke with me but also hold me tight and say nothing while the tears flow. These last 2 years have been the happiest of my whole life, nothing can change that and tomorrow and everyday after that is going to continue to be the happiest days of my life. Next Tuesday, I will talk to my psychiatrist and then will look at getting genetic counselling to decide on whether to get tested or not.

GoogleBot

My old friend from school capable to take control of Huntington and at this stage he almost forgot he has one.

Basically he completely stopped processed food along with cooking oils and high carbs foods and I believe nowadays its called Healthy Keto diet.

And as far as I know he only have one meal a day for the last 12 years.

corner of hells

https://www.boards.ie/discussion/2058229385/huntingtons-disease

Hi there , Huntingdons is present in my family too with an aunt and a couple of other relatives getting it. I've cousins whose mother had it but aren't showing it yet.

I really don't know what to say to you , but we were told if it is going to manifest symptoms will have appeared by about 40 years of age.

https://www.boards.ie/discussion/comment/118520161#Comment_118520161

It would seem it is late onset for my family. My father only developed symptoms in his early 60's, he is now 82 and is completely bedridden and unable to communicate. My sister developed symptoms at age 48. My sister has deteriorated quite a lot in the last 3 years but is still just about able to manage day to day activities. She is mid-fifties.

am_zarathustra

If it helps the above poster is right, you would be likely to show some symptoms much earlier. Huntingtons is an anticipatory disease so it manifests earlier in each generation. You would expect symptoms much younger than your Dad, as you can see with your sister.

The facts are one thing but the reality is another. I'm glad you have a good support network and I hope whether you get the test or not that it's skipped you. I can't imagine how tough it must be for your family at the moment.

blackbird86

It's simply not true that it manifests earlier with each generation or that symptoms begin by 40. While it often manifests earlier its by no means a guarantee, especially if the gene is inherited from a mother. It's more likely to happen when inherited from a father alright but still far from guaranteed. There's 3 confirmed cases in my family. Grandfather was in his 60s when symptoms started, his son was in his 40s but his daughter is late 60s, confirmed positive but still asymptomatic. So even in my family it varies widely.

Op, I can sympathise with your predicament. I only found out a few years ago that I was at risk & I decided last year I was ready to get tested. I ended up developing a couple of symptoms while waiting for genetic counselling, for which I was referred to a neurologist. I'm currently waiting for my test result, which even with skipping the counselling has taken months & months. The neurologist doesn't think my symptoms are related to huntingtons so I've no idea if I'll be positive or negative. It's not easy living in limbo! Very sorry about your sister & I hope you don't have the gene.

https://m.independent.ie/irish-news/health/how-people-diagnosed-with-rare-illnesses-including-huntingtons-disease-face-a-nightmare-ordeal-in-ireland-41391877.html

One of my sisters got tested privately. Consultant said she had no clinical symptoms when he saw her initially. Only took 3 weeks for the test result to come back. It's faster because they can use my oldest sisters test result to be very specific on what they need to test.

Some of my other siblings plan on being tested whereas 2 of us have decided not to get tested at this stage. The Neurologist has told us that although the average age of onset of symptoms is around 40 years, late onset is quite normal and when they do the test, they can tell from the result if you are more likely to have late onset of symptoms.

Turns out my father was tested and diagnosed several years ago but neither the Neurologist or the GP involved thought it necessary to inform the family, next of kin or indeed the Nursing Home he was staying in.

After 5 months deliberating, I rang the clinic last week and have an appointment tomorrow to get tested. Other members have been getting tested and coming back positive. No one has had a totally negative result. Even if they won't develop symptoms, their children are still at risk.

It's quite shocking and appalling the lack of any coordinated services for Huntington's there is in Ireland. Scotland which has a comparable population to Ireland has 5 specialized centres spread around the country.

My father died of complications from Huntington's today. I tested negative a couple of weeks ago and I am delighted for me but saddened for the family members who have it. The 4 weeks between getting tested and getting the call from the Neurologist is traumatic to say the least.

Watching my father's deterioration over the last 10 years has not been nice and thankfully none of the family have witnessed it. It's better not knowing. I am prepared to watch it again but I know I can be more supportive and aware of what is happening with my family members.

corner of hells

https://www.boards.ie/discussion/comment/119479012#Comment_119479012

I'm really sorry for your loss , like I said in a previous post Huntington's is present in my own family. It is a nasty disease , I do sympathise with what you experienced with your father and I know its difficult to find solace and comfort at times like this.

It hasn't manifested in my family again and hopefully won't.

Best of luck to you.