My Dad's HD test results came out last Tuesday. CAG 41. My sister insisted on a repeat test. Is it unusual to repeat the test? Anyone else had a test repeated with a different result? It is my understanding that chances of a false positive are extremely slim. She has decided to put off thinking about it until the next test "confirms" the diagnosis. Not me. I plan to talk to my kids this evening, and called the lab this morning to set up genetic testing for myself.

Sorry about your dad. I haven't heard of many people doing a confirmation test but if it'll make her feel "better" about it there's no harm.

We did a repeat test on my sib since there was no history of the illness in our family before my sib was diagnosed.

There *was* a difference in cag count between the two labs. in our case the difference was pronounced, but the genetic counselor I spoke with said that there are occasional differences of a few cag counts in either direction.

Before you rush to get tested, please consider investigating various insurance coverages, as well as the psychological impact the results may have on you. I am also in the process of being tested, but im still at the stage where i need to make sure i have the basic insurances in place should the result come back positive for Huntington's.

Thanks for the response Hope. I feel like it is doing some harm, in that now I am seen as over-reactive and jumping the gun because I have contacted my local support person, researched our family medical history (no movement disorders but heavy with psychiatric symptoms and "dementia"?), started reading books and researching online, and have contacted the lab to start the process to get tested myself. I can't talk to anyone in my family about it because they are all just assuming it was a false-positive test.
It's all so frustrating. I can't concentrate on anything, and called out of work today (I am a psychiatric nurse). It's hard to explain... I just feel like knowing everything there is to know yesterday. Also, my husband in talking to me about this has been very supportive, but also all the conversations have some element of "wait and see the results of the second test".
Also, it is obvious to my kids that something is going on with me, and I plan to talk to them about it this evening when my husband gets home from work. To add to my frustration, when I contacted their pediatricians office they told me flat out NOT to talk to them about it at all until I know if I am positive or negative, which I'm sorry, but I think they are dead wrong on that one.
All of this together makes me seem irrational and over-reactive. I am so frustrated with all this!

Everyone deals with these things in such different ways - some people push it down and don't want to go there - some people need to learn everything and be as proactive as possible. I say research away if that is what you are driven to do - if there is a false positive all that has happened is that you have learned about HD.
How old are your kids? I think a parent has to go with their gut but I would think about it and all of its ramifications - the waiting period, how that will affect them... and do some research about telling the kids... there are books and info on it which might be helpful to you. Good luck!

Also, one thing I have learned on this forum - you never know until you are tested. many folks have thought they were positive and tested negative. The mind plays incredible tricks.

One thing to think about before being tested is to get insurance in place that may be impossible to get if your results are positive. Such as disability, long term care possibly life insurance etc.
I think it would be unusual to have a false positive, so I think you're right to deal with these results as you feel you need to. I am like you and want to educate myself. But I am not like you in that I haven't discussed this with our child yet and I plan to wait until he's older. There are a lot of things to consider when disclosing such information to kids. We also haven't told anyone in our family yet. Everyone has different ideas about these issues.
I read that it's common to have a little testing difference in CAG's but usually only by 1 or 2 numbers...I guess Noreaster had a big difference in CAG's, but I'd never heard of that before I read of her situation...unless it's juvenile HD and then I guess it can be common for the testing results to be messed up.

My kids are 14 and 17. I also have an 8 year old who I don't plan to talk to about it yet because even though he is 8, he is a young 8 with learning disabilities and I know he would not understand. I have never been the type of mom to keep things from my kids. I think it would come across as very alarmist to them if they were to find out later that I was keeping something from them. It would make it seem like a really bad thing, and it would scare them to know that. Not only that, but I can't imagine waiting until I took the test myself and if it were positive then sitting them down and saying, well here is this thing I have that we've never discussed before... you know what I am saying? Plus, they're home for the summer, and will wonder why I am going to Boston, etc...

As far as the insurance piece goes, I talked to my PCP who says that the state of Maine is a relatively safe one as far as pre-existing conditions go. I currently have very good insurance BC/BS through the state university, but I agree with all of you that I need to research this further before I go ahead with the test. Any suggestions as to where to start with all that? Do I contact my insurance company directly and just ask them?

Since finding out about this last Tuesday I have poured myself into reading everything I can and researching every question that pops into my head. What sucks is I feel out of control with it and can't seem to stop. Last night, and another night a few days ago I started feeling completely overwhelmed, confused, couldn't stop shaking, couldn't concentrate on anything, pacing around the house. On both of these occasions I ended up drinking way more than is good for anyone, which works to stop that brain-pain for a while, but of course it's back in the morning. Right now I am focusing on trying to find the balance... where I can just sit with the knowledge I have and digest it, without self-medicating my feelings of being overwhelmed. This is hard.

Thank you all for your support.

You don't need to contact the insurance agency anytime. You have to have a doctor run the blood test. You are a nurse after all, ask around the best way to run a "generic" genetic test and see what's up.

You can even pay for the test on your own, and ask that the record not be put in your permanent record. We can do that you know.

I asked my Consultant if test cold be false positive. Im afraid the answer is no.

However it would appear that the machines used to examine the DNA differ. Im not sure whether they are the same hardwear but he software set up is/can be different or whether there are different physical machines. Anyway because of this difference the CAG count can vary.

My blood was tested in Bristol and I had a CAG of 41. IT been taken again at UCLA London (i go back there in Oct for another appt) and they expect it will be 1 or 2 repeats less. This has been the "norm" when compared to the Bristol machine results.

You seem to be in a total panic. Dont you think your symptoms are of adrenaline etc causing you to be suffering anxiety etc.

Did you know there was a family history of HD before your Dad was tested? Had you just presumed he did not have it so you werent prepared mantally for a pos result?

Its bloody awful isnt it? I have 2 teenagers they know about if cos my Mum is end stage and had severe symptoms for years.... but I have not told them my results... so they are technically 25% risk rather than 50%. I like to leave them with thet lower risk. I feel like im a barrier for them so they can have some fun whilst they are young ansd not be stressed and freaked out.

Its only another disease. There are so many horrible ones its not to be demonised beyond where it should sit. Try to remain calm it is not a death certificate just a test result. Your Dad can now start on alll of the usfull suppliments and poss Memantine if his GP will agree to off label use. There is much that can be done to help.

Lorraine

I've never before heard about CAG counts varying from test to test.

But even if that is possible, it totally sounds like your other family members have their heads in the sand. Unfortunately that is not uncommon. My mom, who has HD, also has an entire family of medical professionals including doctors, and they're all in denial about her condition, even though they should seriously recognize the symptoms from her/their mother.

I was like you, when I figured it out almost 2 years ago now. I needed to know EVERYTHING asap. Both for her sake and of course I also began obscessing about my own risk, and soon tested (positive, CAG 43).

I actually tested anonymously and am so glad that I was able to do it that way. It cost about $1000, but in the time it took to save that & wait for my appt, it was enough to tell me that obscessing about it was not something I was going to get over.

You should get all the Life Insurance, Disability Insurance, & Long-term care insurance you could ever need, in order ahead of time. These are NOT protected by GINA, so they can easily deny you if you are positive. In fact, you'll have a very hard time getting insurance with a parent who's been diagnosed, but it may still be possible if you do some shopping. You don't have to offer info that's not asked, but you have to answer anything that is asked by insurance companies honestly or you could be denied benefits even after paying premiums. You can always cancel the insurance if you are negative.

You mention you are trying not to self-medicate too much. I relied on wine to fall asleep for a long time surrounding my own testing, but really hope you can find something better to take, preferably with a doctor's supervision. But yes, you need to FEEL things to some extent to get THROUGH the feelings, but you also need to sleep. And you also need to go through the motions of life as best you can (with allowable exceptions here & there).

As far as telling your kids, everyone has different approaches, and there are some links in post with that topic on the first page of the forum right now. I THINK I appreciated hearing as a kid, about the 25% chance of getting HD when I was "much older", rather than a 50% chance suddenly smacking me in the face two years ago even more than it did anyway. You know your own kids best of course. But whenever you do have your conversation (perhaps as soon as this evening), you might add that there are probably about a dozen things in the treatment pipeline that could seriously change what it means to have HD, some drugs in clinical trials now that could be available in 1-2 years; and 2-3 variations of a virtual cure that could modify the messages sent by the defective DNA, in as little as 5-7 years.

As these things do progress, I believe it will also get less & less diffficult to receive the HD diagnosis, gene results, or realize your own at-risk status.

This is why some people who CAN go about life and not obscess, but are unsure whether they/their loved ones could handle results/news right now, are trying to wait (either for testing themselves, or for telling kids). But waiting was not for me.

Good luck coming to grips with all this, and with your upcoming decisions.



Edited 1 time(s). Last edit at 06/21/2011 02:23PM by smiling sara.

How are you doing?? Any news? Thinking of you.

I agree with you on every point EXCEPT telling your kids when there is nothing to tell them yet about yourself. Why make them worry that not only their parent is going to die a horrible death but that they may too! Wait until you have your test results. If you are negative (there is a 50% chance you are which are decent odds!) they at least won't have any fears about you or themselves having it.

My test is scheduled for November. I guess I am just sort of waiting it out. We did talk to the kids, and I'm glad we did.