One the things my genetic counsellor seems really enthusiastic about, is the possibility that soon we might be able to tell people who get a + result not only that they carry the gene, but when they will develope the symptoms. I guess that's one of the things we can learn from the COHORT-type studies. But my question is: do we people really want to know this? Is there a thing as "too much information"?

I'm all for knowing as much as you can, I think is empowering. But knowing when you're onset is expected is too much for me. And the reason I know this is because last week I read something that really has thrown me back to 8 months ago when I first found out about HD. So, again, I have trouble sleeping, I don't eat much and I'm simply depressed: it turns out that that, apparently, the reason my MIL whith a result of 38/56 CAG repeats had such a late onset (after 50) is precisely because her second allele is also high. I always thought it was because of other genes or enviromental factors. Naively, I thought that even if my husband enherited the very high count allele, he could have enherited those others genes and that would give us some extra years. But it turns out that both allels interact to affect the severity and the progression of HD, as the extract here explains:

[www.ncbi.nlm.nih.gov]

So, even though we don't have the results yet, if my husband enherited the high count allele, his onset must be around the corner. And I have a feeling he did: those piano fingers when he's aspleep, his look when I ask him a simple question. He doesnt't answer me the first time and always tells me he was concentrated on something else, but I have the feeling he was just staring in the air.Yes, I know it sounds like symptom-hunting, but right now, I don't even have the luxury of a 50/50 % chance: I have the prospect of a quite normal life with a 38 count (if we are really lucky and there isn't an expansion) or an allele on the high 50s with an onset that should have already started.

I'm sorry guys, I wanted to seriously ask a question,if you thought being able to calculate onset would be good, but I finished talking about me again. I'm just having such a hard time this week...

Luz.

Luz, I am hoping he inherited the 38 allele. I know a family where grandpa lived to be 92 without symptoms with a 39 count. He was written up in the literature.

Luz, I hope he inherited the 38 allele, also. When do you get the test results? It seems like you've been waiting a long time.

I also think there are other modifiers of the disease in additon to the normal allele. So he could have other modifiers even if he inherits the higher allele.

The article is very interesting. I had no idea that the "normal" gene interacted with the abnormal one.

Paula: the reason we haven't got his results is because we decided to postpone the test until the insurance issue is resolved. Now it is, so we'll go through testing in early 2010. And to be honest with you, this has been a roller coster, and even though it's always been clear to us that we wanted to test, we also wanted to feel we had fully adjusted to the news of his at-risk status and his mother's results before testing. 8 months ago, I knew nothing about HD, so it hasn't been long at all.

Thank you for your wishes, Marsha and Paula. If he got the 38 allele, I think we would be the first people to get a positive result and be happy about it. The other scenario is so frightening to me that I've just started making plans for it. I think I will go back to my home country because I just can't imagine how I'm going to deal with all this without my family. I feel quite lonely up here...

Luz for as many times as you have posted I for the life of me I can't remember your husbands age or if you feel you see symptoms right now. I think I remember you are about 30? I try to remember what decade is of the people here... they age slower that way.. 56 is really high.. darn near close to the official jHD range. If he is 30 and you can't see symptoms... if he had the 56 cag count he is doing really really well. I haven't seen the mean age of onset for that count that I remember but I would have to guess the mean age of onset is a young one. Wish I could make you feel 100% better in the guessing game and of course I can't. Since you can't really properly brace for the worst and you don't seem the type who is unrealistic, I think it's ok to feel marginally better for this time period that 56 is a little less likely.

Hi Luz,

I really hope your husband has the 38 allele. A very interesting paper though, it says "In subjects with mutant CAG expansions in the low range, increasing size of the normal repeat correlated with more severe symptoms and pathology, whereas for those subjects with expansions in the high range, increasing size of the normal repeat correlated with less severe symptoms and pathology." so I am curious to know what the low range is classed as. Does anyone have a copy of the full paper? I would like to know a more accurate age of onset just because it would make me worry abit less. I have a feeling my 'normal' CAG count is low, maybe 13 so I I'd like to know if my CAG of 45 falls into the range where a lower 'normal' count would help.

I hope your week picks up

Justine

I thought about that possibility, Eric. My husband's about to be 33 and the average age of onset for that number of repetitions is about 25-26, but I don't think that means a lot because I saw that in many cases, even with such a high count, the onset is more on the late 30s. Regarding his personality, he's the same loving person he's always been. The only things that worry me are his movements when he sleeps (he's had those before we even knew about HD, but it's been getting worse latetly) and the fact that I have to ask him many questions more than once (his face looks just blank when this happens).

So, I guess I'm stuck with the feeling we're soon going to get really bad news...

But I do feel better by adressing how I've been feeling this week, so thank you everybody.

I got hold of the paper if anyone's interested in it. They have a good figure in the paper, it shows CAGs 43-45 are pretty much unaffected, CAGs less than 43 have a later age of onset with a lower 'normal' CAG count and CAGs higher than 45 have a later age of onset with a higher 'normal' CAG count. The difference in age of onset in the higher CAG range is about 10 years when you compare a 'normal' CAG of 10 to a 'normal' CAG of 30. These are based on averages though and there will still be alot of variability.

Sorry if this sounds confusing it's much easier to look at the graph!

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Edited 1 time(s). Last edit at 12/05/2009 08:22PM by dustyblues.

jayb, could you please tell me where you found this graph, I would be interested in looking at it. thanks.

Luz,

I don't have time right now to read into your history, so please let me know if I am speaking out of turn, but my first thought with you what said about your husband's movements during sleep and "blank" looks is the same thing I see in my husband currently.

My husband is not at risk...I am...he's just stressed due to the amount of hd talk in our house. Being at risk is very, very internally stressful for both of us. Even on the good days, its there.

You said : "And to be honest with you, this has been a roller coster, and even though it's always been clear to us that we wanted to test, we also wanted to feel we had fully adjusted to the news of his at-risk status and his mother's results before testing".

That DOES sound stressful. And you do sound like you are symptom hunting.

Jayb, could you send me a copy of the paper? I haven't been able to get it.

Our son shared a hotel room with his father recently and he came home talking about how amazed he was to watch Tony sleep. Tony does not move much when he sleeps, and when he does it is normal movement, not chorea. You may be seeing stress. If I were trying to judge if Tony had HD based on his movements during sleep, I would say no.

TracieT:

I know what you mean by stress and symptom hunting BUT my husband moved even BEFORE we knew a thing about HD. And believe me, before he was not the kind of person who would stressed out.

The only big sign of stress that I see (he didn't have this before) is that he has trouble sleeping.

Anyway, don't think that just because I brought this topic up I think about it all day long or I'm constatly analysing everything he does, because I don't. This week has been hard on me because before reading the article I was reluctant to accept that he might get HD pretty soon and now I've realised that's a big possibility.

Maggie:

His movements in his sleep doesn't seem normal to me at all: they're like little electro-shocks and then he moves his fingers like he's playing the piano. But I don't know, that might be normal, too?

Anyway, thank you both! Now I'm slowly going back to normal (for the circumstances) which is trying to take one step at the time (like in this hilarious movie where a psychiatrist tells his patients to take "baby steps" )



Edited 1 time(s). Last edit at 12/02/2009 08:03AM by Luz.

There are many stories in the HDAC library dealing with all sorts of issues. Talking about stress always reminds me of my son's story. Here it is if you'd like to read about his stress.

[www.hdac.org]

Thank you, Maggie. I had read your post before and have just reread it. I'm really happy for your son.
I really know it could be stress, but as I said before, he started moving long before we knew anything at all about HD. Actually, when we found out about his mother, the first thing that came to my mind was exactly how he moved when he was aspleep. So, maybe stress it's making it worse, but it started at a time when he was a very happy person with no real worries in his mind.

BTW, I love your food section! Specially your article about beating the snack machine: what an achievement! I told that story to my mom (she doesn't read english very well) and she loved it because she's a great cook, too and a great believer in home made healthy food. It's one of my favorites sections on this site. My husband and I also love cooking and eating healthy (maybe because we were lucky enough to grow up in a place where there were no fast food restaurants and homemade food with local products was all we experienced).

Thank you. We had the company that put in the soft drink machine come and get that vending machine, too. We didn?t request it; they said we didn?t buy enough cokes (at $1.25 to pay for their having it there) So now?poor us ?we only get fruit juice, coffee and tea. Anyone who can?t live without a coke can bring his own from home and keep them in the fridge.

I hafta say that the ad on TV, complaining about the taxing of soft drinks being anti-family to be totally unconvincing!

My immediate thought is, "Feeding your family that crap is anti-family!"

jl

I'm trying to make sense of this...I admit I had a difficult time understanding the abstract (didn't see the paper or graph). According to jayb's explanation, this paper is really refering to those who had a higher CAG repeat and if their second allele was also high then they had a later onset...is that right? So Luz is saying her MIL had a late onset because one allele was 38 and the other was 56 and they were both high. ANd this paper is saying it is not advantageous to have a second low count allele: for example if Luz's MIL had a 20 and 56 then she would have had an earlier onset? Do I understand this correctly? It seems the opposite of what one would think.
And do I understand that if a person's diagnosed with a CAG of less than 43 they will have a later onset regardless of what their other "normal" allele is? So for example someone has the test results of 2 alleles of 20 and a CAG of about 40 then they would still be late onset because their other number is low? I really am not sure I even understand the genetic terms.
Plus, what number would be considered "low"?
I want to understand this, so if anyone wants to help, please chime in!



Edited 1 time(s). Last edit at 12/04/2009 08:15AM by eve.

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Edited 1 time(s). Last edit at 12/05/2009 08:23PM by dustyblues.