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Original poster

Does anyone know much about Huntington's Disease?

73 replies

freerunner · 26/12/2007 23:20

I've just found out that my grandad has it and that it is hereditary. A bit scared really! Two uncles and an aunt on my dad's side also have it. Has anyone had the test and what does it involve? TIA!

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DaisyMoo · 30/12/2007 23:30

Hi freerunner, I'm so sorry you're having to go through this. I went through something similar myself earlier on this year when it was thought that I may have a genetic disease which causes cancer with an average life expectancy of around 50. Like HD it is autosomal dominant so the impact on my children and their futures was a very big worry. I had the genetic testing this spring and got the results about 5 months later (the results were back much sooner but I couldn't face getting the results before then). Thankfully I tested negative but the whole experience was extremely traumatic and upsetting. I would strongly urge you to insist on an urgent referral to a genetic counsellor - I didn't see them before I had the tests and I really wish I had as I needed someone to talk to. I'm not 100% certain of the ethics/legalities of whether they will test you without your father's permission but certainly in my case my parents did not have to give consent.
Keep talking to us - I really really hope you get a negative result, and quickly, the waiting is so hard. xxxx

Tamum · 31/12/2007 14:37

Daisymoo, that sounds awful- I'm so glad you got the all-clear. Can I just clarify, do you mean that you were allowed to have the test even though your parent didn't want to know their status? That's the issue here, rather than permission- if freerunner takes the test and is positive (god forbid, of course) then her father can't avoid the knowledge that he will also get HD. That's the problem with autosomal dominants really- tragic for all concerned.

Blandmum · 31/12/2007 14:40

I would have thought that there might be different ethical considerations with a genetic predisposition to Cancer, since closer monitoring of the affected individual could 'catch it early' and increase survival times / quality of life etc. Unlike HD

DaisyMoo · 31/12/2007 14:57

My parents didn't not want to know themselves, they were happy for me to take the test, but I wasn't asked about any of this at all, just given the test. I agree it was slightly different for me in that I was potentially the proband so a positive result wouldn't have 'sentenced' my parents in any way.

The whole consent/permission sounds a bit murkey - surely the only way any genetic counselling service could logically do it would be to require consent from parents or you would be penalising people who were honest enough to say that their parent did not want to be tested themselves?

Tamum · 31/12/2007 15:23

No, I guess the word permission is right, but I suppose I was thinking of it as consent (that they recognise the fact that they would de facto know their own status) rather than simply allowing it to go ahead. And yes, I don't imagine for a moment a counsellor would take the person's word for it, that a parent consented. I guess I really haven't understood your situation then, if you were at risk of something that is autosomal dominant but you were the proband- did they think you had got a spontaneous mutation? Clearly that would be completely different and there would be no issue of consent from anyone else, but I may have misunderstood.

Mb, yes, that's true- I was going by the life expectancy of 50 that Daisy mentions, but of course monitoring could help a lot.

DaisyMoo · 31/12/2007 15:51

They thought it may have been a spontaneous mutation, but because the penetrance can be variable and my parents are only in their 50s then could have come from one of them. TBH the endocrinologist who arranged the tests was a bit useless and didn't really seem very knowledgeable about genetic testing so it wouldn't surprise me at all if she had missed any ethical guidelines - eg I didn't get any counselling whatsoever and it left me in a complete state. I was tested for MEN-1 btw in case you're trying to piece it together!

Surely a woman of childbearing age should have the right to know her own status irrespective of her parent's wishes because of the impact on family planning/prenatal diagnosis? Are there any national guidelines on ethics wrt genetic testing?

Sorry, hope that all made sense, have children wittering in my ear!

fizzbuzz · 31/12/2007 16:05

Catsmother, what you say about symptoms being evident for years is very interesting.

My sister was presumed to have a "personality disorder" and was sectioned several times before it was identified.

This is what I meant when I said erlier in my post, that the symptoms can be evident from a very early age. She was 15 when she first started to show symptoms, but wasn't diagnosed until 28 years later.

Tamum · 31/12/2007 16:07

Ah, thanks Daisy- I think genetic knowledge is often lamentable in other specialities, it's awful that they didn't offer you counselling . You may well be right, that the wishes of a woman of childbearing age would supercede those of a parent, but I'd be interested to know. I know there was a case of identical twins in the US who were at risk of HD and one wanted to know and the other didn't. Neither of them was allowed to take the test as it was felt that the right to privacy was more important than the right to know. I have to say I would be absolutely shattered if dd ever wanted a test for LBD (not that one exists yet) and condemned me to knowing I would get it, however supportive I wanted to try and be.

fizzbuzz · 31/12/2007 16:11

I would also say, be aware that anger will kick in soonish. I would wait until that passes before you make a decision on a test.

Lots of sympathy to you. I know how shocking it is to suddenly find this is in your family, after years of not knowing.

Original poster

freerunner · 31/12/2007 17:53

Thank you all once again. I spoke to my dad again tonight and he has completely refused to be tested. Oh well...... I'm off to spend New Year with my best mate and a bottle of bubbly. Have a good night everyone!

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Eve34 · 31/12/2007 22:21

Enjoy your New year.

As for the testing. I know that in 1 area a lady you was PG was told by her father in law that HD was in the family neither he nor his son wanted to be tested. She felt that she had a right to know if you unborn baby had HD. First hospital would not test differnt hosptial would. So go and talk to them and ask for a second opinion.

Good luck and have a fab night out. x

Original poster

freerunner · 07/01/2008 18:18

Well, this morning I went back to see my GP and got no further forward so when I got home I rang the genetics department. The receptionist told me to call back on Friday.
Then, this afternoon, the genetics counsellor called me and offered me the next available appointment - Wednesday afternoon! I'm sooo nervous but at least things are moving in the right direction.

OP posts:

DaisyMoo · 07/01/2008 18:21

I'm so glad you've managed to get an appointment quickly, let us know how it goes (your GP sounds crap btw)

Original poster

freerunner · 09/01/2008 22:42

Hi! Yes, my GP is crap! Anyway, I had my first appointment with the genetics counsellor today. It has been decided that I only need one more appointment with the doctor at the genetics centre before taking the test! It was really good to have a lengthy chat about everything - apparently I am officially 50% 'at risk' although I think this is based on the assumption that my dad is showing symptoms that aren't just his alcoholism (not quite sure how that works TBH). The counsellor is going to book me the next available appointment with the doc so hopefully not too much longer to wait.

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Original poster

freerunner · 28/02/2008 22:55

I have finally got my appointment for my test - 20th March! 3 weeks to go.......

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mygirllollipop · 29/02/2008 10:37

Wishing you luck for the test, it can't come soon enough for you, and happy birthday for tomorrow.

Original poster

freerunner · 22/03/2008 21:31

Well, I was brave, I did the test! I get the results next month and it's going to be the longest 4 weeks of my life I think. I'm so glad I did it, because whatever the results are I don't think it can be as bad as not knowing.

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cazzybabs · 22/03/2008 21:41

I think you are very brave. Is your sister going to get tested?

Original poster

freerunner · 22/03/2008 21:53

Hi! My sister doesn't want to be tested. She won't even talk about it, although her husband really wants her to do the test so he knows the kids are ok. I'm hoping that she'll think about it once I get my results.

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hippipotami · 22/03/2008 22:16

Have only just found this thread. Freerunner you are incredibly brave and strong. I think if I was facing this, I would panic and not test, but spend every waking minute of my life wondering...

Good luck, I hope with every fibre of my being that your test is negative.

DloeufyDoo · 22/03/2008 22:18

Thinking of you freerunner.I have looked after a young boy with Huntingdon's.I hope your sister does have the test and her children.I think you are very brave and I know that I,like you,would rather know.

Original poster

freerunner · 22/03/2008 22:22

Thanks for your messages. I don't feel very brave, I am dreading results day but at least then I will know! The waiting is definitely the worst part, but I know you lot will help keep me sane

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Missarad · 28/02/2020 22:27

How did the test go x

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