Hi everyone

I feel like this is one of the biggest decisions I will ever make and I am not sure what to do. I posted in an earlier thread about issues similar to this. I am 26 and have been married for two years. I am seriously thinking about getting tested next year (in the process of getting all the insurances taken care of). I am trying to plan for the worst and hope for the best. I was wondering if anyone out there could give me insight on testing positive and then going through CVS. I am scared that if I decided to go this route I may feel extremely guilty about having an abortion if the baby were gene positive. I just want to make sure I am weighing all my options. I know about PGD and IVF and would love to go that route, however I would really have to advocate for my insurance to pay for it. I also know adoption is another option. I just can't figure out whats best for me. My husband is pretty open to any decision. Any insight would be appreciated. Thanks!

I'm not sure my opinions will be of help to you, but here goes. My wife had already tested positive, and we knew onset would happen before we got married. That aside, as far as children are concerned, we talked about having children (although it was unlikely and unrealistic at our age). Yes, having a child immediately gave him or her a 50/50 chance of carrying the gene, plus there would be the obvious problem of raising the child when my wife was already developing onset for HD. But although we did not/could not have a child, I was in favor of trying if possible (as was my wife). Why? Well, the best explanation was that I was willing to handle a new life, whether he or she had the gene, because a life is precious! Just as I would not abandon my wife because she had HD, I would not abandon or give up on thinking about having a child for the same reason. Granted, there are many pros and cons. You are in a different position right now, with lots of decisions to make. Hopefully, telling you of the ones my wife and I decided on might add some insight to you as you begin your decsion making process.

I doubt if this helps you very much, but at least it's a perspective. I've gained much from hearing of other's perspectives on matters, so I want to return the favor.

One more matter, which may or may not relate to your future. Even after my wife developed onset, and was diagnosed by our neurologist, we were able to get life insurance, but hers having a 2 year waiting period. Now, 4 years later.

Also, if we had decided and were able to have a child, I can see that taking care of our child (who would be 4 years old now) would be a huge task. Obviously, my wife would be completely unable to take care of the child, and it takes everything I have (plus outside help) to take care of my wife). Your situation is different, but you can see that in my last 4 years, a desire, plus concern, can be both realistic and unrealistic. Good luck on your situation, your decisions, and may God bless you and yours.

Hi there,

I was in a similar situation a year or so ago. The decision about having children was the final push I needed to get tested.

My wife and I were undecided about children and our insurances would only pay for IVF if one of us were found to be infertile. The rough estimate of the cost was a lot of money for us and it was hard to justfy that spend on only a what-if.

My at-risk status really made it difficult for us (and me in particular) to make any sort of decision. Hence, as we are considerably older than you, it was time to get tested. Even if it was just to say no we don't want kids. We never really felt a huge drive to have them but didn't know if being at-risk was the reason. We just couldn't say definitely no.

If PGD and IVF are not financially available to you, and you are thinking about CVS then I would suggest getting tested as a postive CVS will reveal your own status anyway.

Re-reading your post it seems you know that anyway so pardon my waffling. I think that once you test and know your status other decisions become clearer, if not easier.

So concentrate on your decision about testing first. If you decide to test wait until you get the results before worrying about other options that, hopefully, may not even be necessary.

Generally, I am not an advocate for testing unless you yourself really want to know, and at that stage in my life I felt that I was.

Strangely once I may the decison to test, the knowledge that I could make informed decisions, good or bad, and move on in some way with my life, sustained me through that difficult time. It felt absolutely right, scarey, but right.



Edited 2 time(s). Last edit at 09/10/2008 11:20AM by BigMac.

Hey welcome I'm really glad to hear, that as scary as it is, that you are deciding to test. That really is a great choice you are making, so you can make some good, well thought out, intelligent decisions, as a result of your testing. I think that no matter the results, you will be glad you tested, so that you then have the knowledge you need to make these decisions. You have choices today that werent available before, people have prayed for many years that there would be a genetic test, so that they can make wise decisions, and spare their children. I personally am finding all this blessing blessing blessing talk getting a bit nauseating, because it is also about knowledge, the brains we were given, to use our brains. I give you a lot of credit for the questions you are asking, and the decisions you are trying to make.

Thank you all for your insight. I find it to be very valuable to my situation and am so happy I have all of you in my life.

Hi and welcome....
I must first say i am fairly new hear well two years new but I don't post that often.....my husband is postive and we have two children however my situation was different we did not find out there was even HD in the family until three years ago therefore we did not have the options that are available to you. regardless, whatever decsion you make it has to be right for you and your husband first. would I change anything if I had known prior?, when I look at my children now...I say no they keep me going on days when I don't think I have anything left to give...but that is hindsight. I think your doing the right thing take your time really think it through, gather all your info and then do whats right for yourself and your husband...in the end it is what is in your heart......Just know that no matter what your decision your will no doubt have lots of support here! good luck to you

I agree with FranJ. I've already posted my opinion earlier, but here's one more peice of information.

My wife's father and sister have both since passed away from HD. But my wife's sister had 2 children, and they are now in their 20's. Both have chosen not to be tested. One, just had twins with his wife.

Although I don't exactly know why or why not anyone might choose to be tested, the fact that my wife's nephew just had twins brought a new thought to mind. When those twins grow up, what if one or both of them decide to be tested, and one or both does test positive? That would sort of undermine the parent's choice not to be tested, and would of course immediately have made the test for him. It's complex, and when other lives are involved, sooner or later, everything comes into play.

For now, your situation is one you should enjoy, make the best of, and know that any decision you make will be out of love and will be right for you.

HD seems to have unfairly run in my wife's family, and I am sure that it will appear again in the future either in my wife's nephews, or their children. To me, I'm concerned with just my wife, and walking her all the way home through this disease, and it's a far more personal walk than any other future HD incidents that will probably happen in her family in future years.

This may be old school thinking...but, i was under the impression that a person couldn't be tested (unless they were symptomatic) unless a parent had tested positive....for the very reason that Stephen talks about above. again, don't really know where i got this, may have dreamed it.

This may be old school thinking...but, i was under the impression that a person couldn't be tested (unless they were symptomatic) unless a parent had tested positive....for the very reason that Stephen talks about above. again, don't really know where i got this, may have dreamed it.

Hello there
I can kinda relate to your situation...even though I'm kinda on the other side of the tracks. I'm 19 yrs old. Once, I found out that my dad had HD, there was NO doubt in my mind about getting tested...so I got tested and found out that I was in fact also HD positive. It honestly, took me 2 years for my results to really hit me...I don't know if this is because I can clearly see the symptoms slowly get worse in my father.

If you are thinking about having children, in my opinion, you absolutely must be tested! Me and my sister both feel that we would have rather my mom have an abortion rather than have us have to live with HD. If, for example, your repeat count is high, then you'll need to take into consideration, who's going to take care of you & the emotional effects on not only you and your husband, but also your children, if you so choose to have them.

Even, though I strongly recommend getting tested, I don't recommend getting tested if you aren't going to get counseling. When I got tested, I thought it wasn't going to affect me...but after a couple years, I am struggling emotionally.




"This may be old school thinking...but, i was under the impression that a person couldn't be tested (unless they were symptomatic) unless a parent had tested positive....for the very reason that Stephen talks about above. again, don't really know where i got this"

That is what the doctors told me too. Because it was suspected in my grandma, we were then given the permission and arranged to get tested.

xgold,

You said, "...Me and my sister both feel that we would have rather my mom have an abortion rather than have us have to live with HD." Correct me if I misinterpreted your comment, but are you saying that you wish you and your sister had never been born? If a person lived 30 or 40 good years before starting HD symptoms, is that person's life not worth living?

My husband decided to get tested because he did not want his children to hate him for giving them HD. His mother did not know she had it when she had him and therefore he does not hold it against her, but felt he would if she had known. I'm not saying I agree with xgold, but after talking to my husband I understand.

The other side of the story is, when using CVS (at least in Canada), you must be between 14-16 weeks pregnant. At this point, people can certainly tell you are pregnant and you can feel the baby moving around. Are you sure you would be able to abort? I couldn't...that is why we did not use CVS.



Edited 1 time(s). Last edit at 09/12/2008 05:53AM by Sally.

I think that is why I want to get as much input as possible. According to some information presented at the convention, CVS can ususally be performed during the 10-12th weeks of pregnancy.Not saying that is much of a difference, but it would be terribly hard to abort if I could feel the baby. My mom got pregnant right after she had me and because my dad was so sure he had HD (Before the test was available) he did not want to have a second child. He also wanted her to have an abortion because she was a bit older and had high blood pressure. So, I am an only child. These are all very difficult decisions to make because your playing the what if game. Thanks for your comments-

I think Dave has a valid point. Life is precious. Nobody can say you're wrong, no matter what your decision is, but a life is precious no matter what disease or misfortune comes upon the child.

There are valid points also about the emotional toll, and physical, in taking care of an HD person. I certainly know that first hand. However I would never regret having married my wife, and I know she never regrets being born. The difficulties that come with HD, both for the patient and caregiver, can be dealt with. I have seen one miracle after another during our battle, along with the blessings of so many supportive people. It's not easy, and often seems impossible.

You are in a unique position, having not yet made decisions that will affect the rest of your life. Many of us are, and are having to deal with HD no matter what. So, I see and respect your frustration and concern, and I believe the replies out here so far have been of some benefit to you.

I think that since you plan to be tested and don't plan on pregnancy beforehand that I wouldn't over think the situation. Think but don't over think. You could be saving right now for PGD and if you test neg you have a college fund instead. I would gladly pay $15,000 per child that I have to never have them or me worry about HD for them. Unfortunately now, no amount of money can save them from it if they have the gene. $15,000 seems so little. People gladly plunk down that much for a car if not more. I might prioritize my thinking as to what your future child's health is worth to you and not worry about whether insurance pays for it or not. If you come to that decision then abortion and guilt of that would never be an issue.

I agree 100% with you Eric. If we ever decide to have children that is the route we will go.

"xgold, You said, "...Me and my sister both feel that we would have rather my mom have an abortion rather than have us have to live with HD." Correct me if I misinterpreted your comment, but are you saying that you wish you and your sister had never been born? If a person lived 30 or 40 good years before starting HD symptoms, is that person's life not worth living?"


Yes, that is exactly what I am saying, that my sister and I both wish we were never born because we have to live with HD and see our parent and relatives struggle with it. I never said anywhere that abortion is right for everyone or that one's life is not worth living, so please don't misread my personal opinion of my situation. I feel that it's an incredibly difficult decision to choose whether or not to have children knowing not only if they will or will not have HD, but also, not knowing how early and if their symptoms will be severe. Obviously, each person's decision is completely their own, I just wish that in my case, a different decision was made.

I would recommend talking to a child (obviously a teenager or someone in their twenties) that inherited HD. It's one thing for an adult to have HD and have to live their life. But it feels like a completely different situation, having HD being so young and not even having a say. Most of the younger adults I have conversed with feel the same as I do. It's extremely difficult not being able to discuss what's wrong with your friends, or not knowing what your future holds, and even watching your parents/relatives be effected. It is completely terrifying. Perhaps many young people feel this way because a test for HD was aroung when they were born. When my sis was born, there was no test, but when I was born, there was a test...and I would say that I do resent my parents more than my sister because a test was not given to me even though it was an option. Again, if you decide to have the test, please strongly consider counseling.

I have to admit that much of this is way over my head, but I was researching PGD and found this....perhaps Remig or Marsha would understand this best for us, but it sounds to me like pgd for genetic disorders like hd is not a guarantee of outcome either. Here is what I read ( from UptoDate 2007)
"Pitfalls ? Even in experienced hands, nested primer PCR is not always successful, with failure rates approaching 5 to 10 percent. Failure of PCR can be related to the loss of nuclear material prior to the process, the failure of primers to properly anneal to the relevant sequence, or the cell being monosomic for the chromosome on which a sequence is being evaluated. This final aspect is known as allele drop-out (ADO), and can result from the high rate of chromosome abnormalities in early embryos or technical considerations that lead to the loss of the allelic sequence in question. Steps can be taken to minimize the technical aspects of PCR that lead to ADO; however, in many cases, especially those characterized by compound heterozygosity, ADO remains a relatively common and unavoidable technical problem for ART programs .

ADO is also an important concern in single cell PCR analyses for nucleotide repeat disorders such as Huntington disease, myotonic dystrophy, and Fragile X syndrome. In such cases, amplification across repeat nucleotide sequences is less reliable than when applied to unique sequences for specific mutations. In many cases, PCR provides a shorter sequence than would be expected and thus can lead to diagnostic inaccuracies. This was illustrated in a study that showed a shorter and thus inaccurate outcome in approximately 30 percent of cases of PGD for myotonic dystrophy."

As HD is also a nucleotide repeat disorder like myotonic dystrophy, does this not mean that there could also be an inaccurate outcome in approximately 30 percent of cases of PGD as well? I didn't study genetics enough in university to fully understand this all, but I gather this is what is being said?

Eh???

I'll address an aspect of this issue that I know more about.

I've also been asked (when I've said that it doesn't bother me in the least, had my mother chosen to abort me), "Does that mean that you wish you hadn't been born?"

Well, not necessarily. Does it mean that I wish I had not been born into a body with a faulty huntingtin gene?

Well, yeah!!! Actually.

I consider the essence of my being to be my soul. Not my body.

If it's time for my soul to go "another round" in a physical body - then it will happen. If not THIS body - then another one.

It's no big deal.



Edited 1 time(s). Last edit at 09/12/2008 10:47PM by jl.

30% inaccurate. I wonder if that is relatively conclusive or not? That's not much improvement over natural and considering each set of parents is expecting HD free for their effort and expense...let alone their well being. 50/50 or 70/30.... I hope that is disputable or a lot of parents who thought they were in clear are going to be shocked.