I'm wondering whether anyone knows the likelihood of expansion where the gene for the expanded repeat is inherited paternally--both expansion in general, and large expansion. Also, has anyone had an experience (or known of one) where there is a contraction where the gene is inherited paternally?

I'm so terrified. :-( For those who don't know my story, my little boy (just a few weeks old) is at risk. We found this out VERY recently (after he was born). My husband's mother has a CAG repeat of 42 (found out her status after our son was born). My husband's risk is thus 50/50, and our little boy's risk is 25%.

I can't eat or sleep. I cry all the time. My anxiety is absolutely through the roof, to the point where I feel like I'm constantly in crisis mode. It feels like how I felt when I was ascending the stairs to take the Bar Examination, except worse, and it's ALL THE TIME.

I do have an appointment to see a counselor this afternoon, and a psychiatrist on Friday. I'm trying to support my husband, love and care for our new little baby without transmitting my anxiety and fear to him (which I'm probably failing at--the poor little baby can probably sense my terror), and live life. Try as I might, I'm not doing so hot. I guess I can't bear the thought that we might have brought a new life into the world that will suffer, and have a shortened life expectancy (possibly VERY shortened), when this disease is nearly 100% preventable. If only we'd known. :-( I love that little baby so much it hurts. The thought of him suffering, of developing JHD, kills me inside. I've never known such heartache.

We now have an arrangement in place where I will not see my MIL (who swept the whole HD issue under the rug for decades, and STILL doesn't seem to think it's a big deal that my husband and I weren't educated regarding this before we conceived a child). She can come over and visit with the baby when I'm not around (I go for a walk or arrange to do something else if she's coming over). At this point, I can't see how I can ever accept and forgive her willful ignorance, irresponsibility and selfishness regarding this (she wanted a grandchild)--not when it has resulted in us having a precious, innocent child at risk. She purposefully withheld information from us. Argh! Honestly, I don't even want her anywhere near our son (but it's not just my decision, and I have to support and do my best not to upset or alienate my poor husband, who is also suffering).

I want honest answers regarding the likelihood of expansion, if anyone knows (even though I fear the truth will terrify me). Any stories of cases where there was a contraction where the gene was inherited paternally would provide some comfort, though!

Also, what do others think of the situation with MIL? Does the current arrangement sound . . . well, it's not "good" (none of this is) . . . but, does it seem like the best thing we can have in place, for now? Other suggestions?

I did find this article, which sheds some light . . .

[www.ncbi.nlm.nih.gov]

Looks as though, in this study, the average expansion where the gene was inherited paternally was +1.76. I was encouraged to read, also, that this research found no correlation between offspring gender or parental age and CAG repeat instability. (My husband is 35, and I have been worried that his age might raise concern regarding larger expansion if the gene were to be passed down to our son.)

Dear Bluegrasslady-

This is such a tough time- so similar to what I went through when i found out my sib had huntington's and I was 50% risk... Its a shock, and so easy to become very fatalistic about what life holds in store.

The reality is that in our family, the expansion was indeed kinda big. +8 points on one test and +10 on another for my sib. But that is not the norm, AND my sib is doing really really well in his mid-30s. With a law degree from a competitive college, and now in school for a masters to refine career options, the disease had made things more difficult, but really not impossible to achieve. I know this is not the norm, but im wondering if there is a broader spectrum of outcomes and factors than we can really yet understand.

In some ways, im kind of glad we didnt know, because our expectations for achievement have always been high, and I think that can sometimes be a good thing.

It must be devastating to realize that your newborn may have a very serious challenge, right out of the gate. But remember, the key word there is MIGHT.

There are 3-4 possible disease modifying treatments coming into clinical trial (or already there). if there is any way for you to hang in there, please do. things will become less painful, and more hopeful in the coming months.

Bluegrasslady,

You honestly have me a little worried. You are getting pretty upset over this, and I understand that. But really, is there anything you can do or say that will stop what has already happened?

Your post is filled with fear and rage. And you want answers to questions that are really hard for anybody to answer. And even if you have all of those answers, it won't matter to your son. You can't test him now. You won't know for 18 years at the very least.

As far as the JHD thing, there is just as much chance he won't have any problems!

I know you are mad at your MIL. Furious really. But I'm telling you as a parent of an at risk kid, If I could keep it a secret, I sure as hell would too. I don't think I would have let it get as far as she did, but I can understand her point of view.

You will be in her shoes too. When you look into the face of your son in a few years, you will understand what that will do to him. Look what it's done to you!

Right now you have a lot more real reasons to be concerned about things that are going on right now. Like making sure your son is well cared for. This fear and anger is understandable, but it isn't going to be productive in the long run.

Take some time with your psych, and I hope whatever that doctor does helps you. You have to be strong for ALL of you.

Thanks, Fred.

I was encouraged, during counseling today, that with time this wound will become a little less raw, and I will learn to cope better with our new "normal." Yes, I'm angry, and terrified, and grief-stricken, probably to a worrisome level. That's why I'm seeking counseling. I certainly need it. I appreciate your honest, thought-out response.

I also realize that, in fretting and expressing such sheer terror over the fact that my son and husband are at-risk (only at-risk!), and in acting as though this is the worst possible fate, a certain horrid death sentence, I'm likely alienating/annoying/shocking those people who already HAVE HD, or who know they are gene-positive. I don't mean to do that. But, nonetheless, here I've been, acting as though ours is the only difficult plight, as though we're the only ones suffering, as though we have it worse than anyone in the world! I'm truly sorry for that. I do see how offensive/worrisome it can be.

Obviously, there is much inspiration to be found on these boards, inspiration that people who are gene-positive/living with HD can have full, enjoyable, beautiful lives. I hope that my terrified ranting and anger has not made it sound too much like I'm minimizing others' plights, refusing to have optimism, or turning my back entirely on the fact that there are a great many HD-affected people here who are a great inspiration to us all. I certainly need to take a step back and gain some perspective, and, I suppose, learn to "tone it down" a bit!

I do hope (and believe) that with time and support I'll reach a place of acceptance and understanding. Thank you for the perspective.

Sincerely,

Bluegrass

Here is the link to the "Basic Research" page right here on HD Lighthouse Family. When you get there just type in "expansion" in the search box at the top/right of the page and several articles are available.

[www.hdlf.org]

Pete

BLUEGRASSLADY, I was in a SIMILAR situation tho not exactly the same situation. My inlaws did NOT know about HD but my Father in Law was diagnosed later in life ( in his late 60's ) and I KNEW my husband had the same thing. Our kids were in 5th and 8th grades at the time. My husband (sorry but ex now our marriage did not surivive, but we are sill friends) decided to test so the kids would know their status. He tested positive with a CAG of 42, and I never knew my FIL's CAG count. Joe, my ex, is in late stage at age 62 and in a NH. My boys are 30 and 27 and are not the least bit interested in testing but they do seem fine.

I CAN understand your anger towards your MIL.. I found it very hard to believe that my FIL was the ONLY one out of 8 children to test positive and often wondered if someone knew something and just kept it to themselves and just the very thought of that gave me murdereous thoughts! LOL. After you settle down after some time goes by I would expose myself to your MIL a bit at a time, you will have holidays to contend with and eventually your baby will be asking why you don't go see Grandma.

Also has your husband thought about testing? After all he could be negative and then you can have a HUGE celebration and LOTS of children! You will get through this! Pat

Bluegrasslady,

You aren't offending anyone, and you certainly are not alone. There are a whole range of emotions people naturally go through. You are human, you can't help it.

However, nothing is going to magically make this just go away. You can't go back home again.

Plus, this is hard news. It puts a new perspective only any plight you will ever have again. I've heard people rant about some "small" issue, like they lost their job or they wrecked their car. And they think that this is the worst thing that could ever happen to them.

This makes any other thing, including most cancers (and I am a cancer survivor), seem petty doesn't it?

It's a problem that isn't going to go away easily. There are lots of factors to consider, and lots decisions to make that are hard. You have found the right place. There are 100's of years of experience here for your disposal.

Try and relax. The world is still on it's axis. The sun will come up tomorrow. You and all your loved ones are still here for you to enjoy.

There is time, and there is hope.

I totally understand your feeling of terror, except that I know that my husband has HD and all 3 of my kids have a 50/50 chance. My kids were 16, 13 and 2 when we were blindsided. Both of my husbands parents have passed away so I will never know if they were aware of HD or not and believe me, I have spent a lot of time being angry. In my heart I think his Mom had HD and chose not to say anything.

When we first found out I also cried all the time and sought the help of a therapist. For me it was a total waste of time. She actually told me that I didn't need counseling even though I was the one who thought so, go figure! So....after months of crying and feeling terrified I decided to spend my time making a good life for my kids. I'm not saying that I don't have bad days and don't feel scared, but I have chosen to put that fear on the back burner and just enjoy being with them and making memories. Like someone said, you cannot change what might be so it's your choice to make the best of it or not. I am making it a point of living for today and letting my kids experience things that I may not have if HD were not an issue.

Although, I was beyond angry when we found out about HD and the possibility of his parents keeping it a secret, I also understand not wanting to tell my kids. I posted on here about whether or not tell my kids, how to do it and when. I waited until after my oldest graduated from high school, he handled it very well and was actually the one to bring it up first. my daughter refused to talk about it and ended up finding out last year in biology class and my youngest is only 5 so I will wait until he is older. I don't see the point in telling him yet and having him be afraid as opposed to living a carefree childhood, if that's possible. The difference is that I always intended to tell my kids so that they can make informed choices. I also have hope that there will be a cure or at the very least a treatment to slow progression. If my MIL were still alive I'm not sure I would have handled things. As long as it's not detrimental for your son to spend time with his grandma , I think that it's really important that he knows her. My 5 year old will never know his grandmother's and he is missing out on a lot. Sorry this is so long, I could go on forever...................Just know that you are not alone in your feelings and I have found great comfort in this forum. I would be lost without it!

As a mother I can empathize with your concerns. As a mother of a child with JHD and witness to paternal expansion (double) I experienced your fears first hand. I have spoken with other mothers whose children inherited the gene from the father and only became aware of HD due to children’s symptoms prior to the father’s diagnosis. So yes there is a possibility but it is extremely rare to present as JHD.

From your posts I can see how much you love your son otherwise you would not have such high range of emotions. As a parent we all want to protect our children, but have to rationalize that there are things way out of our control, not only this disease, but other illnesses, natural disasters, traumatic accidents, and mankind. Regardless of your husband’s status, your son is here and I am sure you treasure his life with every ounce of your being. Despite thinking the disease can be inherited, this is your son, you will never want to trade him in, but would like to be assured he will be healthy-unfortunately no child is born with a guarantee of such. Yes you may have done things differently if you knew the family history, but that would mean the little person you love so much would not be here… yes you may have had a guarantee of a child without HD, but it would not be this child. The smile would not be the smile you see, or the hand you hold or the little guy you snuggle would not be him. So His life is precious regardless of family history. Every day you wake up to a world of unknown and tackle it, so for now, add this to the possibility of the things that go wrong in the world, but know you can’t change..just as you couldn't prevent cancer, a tornado, etc. So basicly you are left with 2 choices: get lost in what can happen (but then you would have to look at all what if's-not just HD) be consumed with that and miss out on life... or move on with the knowledge, accept there are things out of your control, enjoy your time, and give your son the best life you can. Survival and quality of ones life is not soley affected by health...but rather what we make of the time.

Best wishes
Stacy



Edited 1 time(s). Last edit at 10/06/2011 03:03AM by stacyw.

I am inspired by so many forum members supportive and caring responses to Bluegrass Lady. I am proud to be part of this HD Forum.

Remember Bluegrass...this is a place where MANY of us have been and have made it through to enjoy life for the time we have it. You will make it through too.

Patty

Just wanted to provide another voice of support for what is obviously a difficult time for you. We learned my MIL was gene positive 4 years ago. She and my FIL told me and my husband a week after we had mentioned we were thinking about having children. Here we are, four years later, with no kids (yet?). I understand your rage. My husband's family is a bit unique. The geneticists believe it is a new mutation that started with his great-grandfather who died of other causes early in life, but passed the gene on to his two daughters (my MIL's mother and my MIL's aunt). My MIL's mother and aunt didn't develop symptoms until their late 70's. At first, everyone thought it was Parkinson's. I'm not sure what they knew and when they knew it, but I think they at least knew there was a possibility the grandmother had HD, even if she hadn't had the gene test, before we married.

For a long time, I was convinced my MIL didn't tell us before the wedding so that I wouldn't back out. I've never confronted my MIL about who knew what and when. And, for now, I try really hard to believe that whatever their reasons for sharing when they did, that they made the choice because they though it was the right thing to do. I don't know your MIL, but, I can tell you that while I am glad my husband and I have had the chance to contemplate having children who are gene-negative, it has been really difficult to spend the last 4 years desperately wanting children, and not having them. (My husband took a while to decide to test, but finally tested this spring. He has a repeat of 41. MIL is in her mid-60's, has no symptoms and has a repeat of 40.)

Maybe she didn't tell you because she selfishly wanted a grandchild. But, maybe she didn't tell you because she wanted you to live your life as normally as possible for as long as possible. I don't say that to upset you, but just to give you a different perspective. The story I tell myself, when I find myself angry with my MIL, is that she is the mother of my husband, she raised an amazing man, she loves him more than life, and, as a mother, she has always tried to do what she thought was best for him. It doesn't mean that she did do what was best, but just that she tries because she loves him.

I would add one last thing regarding testing, because I'm sure this is on your mind, too. My MIL wanted my husband to test right away. We went in, saw the neuro, saw the genetic counselor, and thought we were ready to test about 1 month after hearing the news. But, my husband waited 4 years to find out. And, as hard as it has been finding out he has the expanded repeat, I think it was worth waiting. It was really helpful for us to take some time to just sit with the news. To absorb it, and really come to terms with everything. So, take some time to grieve. I consider myself to have been in mourning for 4+ years for a life I'm never going to lead. That is a really hard thing to do- at least for me.

Thank you, all. I, too, am touched and inspired. So grateful for the kindness I have met on this forum.

One thing that you learn from reading posts on this board and living with HD in your family and your life is that you have to grab the joy where and when you find it. Right now you have a new baby - nothing is much more joyful than that. I COMPLETELY understand the terror/anger/fear/sadness etc that you are living with right now but what a shame if that wins out during this amazing time with your new baby.

Reading your post reminded me of all the emotions we went through when my husband began to suspect he had HD, then was diagnosed and along with that the realization that our 2 kids were at risk. that was 2 years ago and things are very different for us now. Life goes on - I have hope that if my kids have it there will be treatment by the time they would need treatment. We are working on keeping my husband as healthy as possible and he is doing well.

We don't know what the future will bring so try to get some joy from the amazing stage that you are in now with your new baby...

Bluegrass,
I, too, have an at-risk son (Joseph), who is 19. His dad (Raymond) passed away in April of HD. I remember when Ray was first diagnosed and Joseph was just a baby, how terrified I was, as well. I always thought if Joseph had it, he would have jHD, because Raymond was only in his 20s when he developed symptoms. I remember feeling so much like you, terrified, crying myself to sleep, cuddling next to Joey, praying desperately for God to spare him the same fate, for God to give me something horrible before Joseph would ever have to suffer with this disease. We have been so blessed and thankful that our Joey is now a healthy, vibrant 19 year old, who's off to college, making his own life and living out his dreams. We all still have that fear, but we've learned to live life and know that many things are beyond our control . . . so we just love each other and pray for all kinds of strength, wisdom and resilience to get through anything and everything that may come ahead . . . many thoughts and prayers for you and your family!

Michelle

You have no right to judge people who have had to deal with HD. We have lived with fear of the eugenics movement, of not getting educations, jobs or insurance. I prayed for a test so you could know whther you had HD or not before having kids. When I was having kids this test did not eixist. One of my sisters choose not to have kids and informed me that as the youngest child I was more likely to get HD and should not have kids. That is family abuse. When I got pregnant I did not tell my sister until the baby was born in case she started on getting rid of the baby. My other sister and I had genetic counselling from the same doctor and decided to have kids. We also decided not to tell the kids which ended up being funny because her daughter has a phd from harvard in lou ehrig disease. This was talked about by the adults in the family when kids were not around. I thinkHD was harddest for my sister who saw my mother as a normal person then the steady deteriiartiion whereas I only saw a phd for a mother plus. My sister spent her whole worrynng about whether she would get HD and when I got it it was more than she could stand.She died a horrible death from breat and bone cancer.

People who have HD need more money, better care, support groups and better legal protection. Your parents aand in laws will make great grandparents if yoou let them. I have myt kiuds in the swimming pool every friday and I did my daughter dishes for 18 months when she was nursing twins.and helped out with the second baby every day. None of these things would have happened if my daughter decided to not let me help.

you need to deal with HD and your mad at the loss of the perfect family, but most families are not perfect, and that is life.At lleaast you will probably have money as a lawyer and enough money helps.
Dusty

Dusty,

Are you suggesting that I am NOT a person who is dealing with HD? My infant son is at-risk! My husband is at-risk! As a potential caregiver, mother, wife, and daughter-in law, I am unquestionably affected by this.

I guess I disagree with you regarding whether it's appropriate or ethical not to tell one's children about the existence of HD in the family. I believe that those who are at-risk have a right to know, so that they can make informed decisions regarding whether to have children. Just because some pHDs or people who are at-risk choose to 'roll the dice' with regard to children does not mean everyone would want to. My husband and I were blinsided, and we would NOT have chosen to roll the dice with our child's health and life. He, too, is angry, that he was deprived of crucial information that would have enabled us to make informed choices regarding childbearing.

Your Mil has hd with a 42. Female transmission is often the same or better. My cag is 47 . Everyone lese with my CAG is dead or near. I am the first generation to be blessed with this test and I don't feel free to discuss my children anymore, but I can tell you that in a first rate testing centre people with CAGs of 39 in 2002 were told they did not have HD and nothing will budge those medical experts.

Before we carried on life, putting HD in a little film container and taking it out to think about it.My grandfather died of HD when he was 72, my mother ws age 63 but shee had her brain fried and never got better so she was i LTC. My sister burned out as a teacher, had a HD probable diagnosis from Dr. Andre Barbeau. Her name was Joan Morgan Gordon and she started the Interrnational Committee to combat HD with Dr. Barbeau, Ralph Walker and Marjorie Guthrie. Shae had no money, no pension and was either shot or killed herslf at age 42. As I get older I see the name change on who was there, Nancy Wexler has forgotten Dr. Barbeau but I will never forgt my sister or Dr. Barbeau because he knew more about HD than any other person on earth. He died in 1983 just before I got pregnant with the last kid. I took each baby for him to see him.
If my sister had hung on just a little longer she might have had more recognition of her work for HD.She was also the only person with HD on the committee.

The way HD was handled before the test was that yhou carried on with life. ie I have 4 kids, 2 degrees and I wrote a book and parented a deaf child, read Ontario edcaution law and undertook Human Rights for Education ofr my son which took 5 years but I won.

I was doing fine althoguh many menopause probelsms and it wasn't until I got pneumonia in Oct and March that I thought it might be HD. I expected a neuro at the bedside but HD is outpatient so I had to wait for neuro, and he decided I did not need to know whether I had HD./
I then went to the gentic clinic and was refused a diagnosis and had to wait another year. After that it was another 6 months to get the bllod tests back . II actually had a local shrink who said I was obsessive compulsive and making up the HD. His name first with my gentics test #$%^ DDr. XXX

have mentioned that I made the neuros sstudent who was named Dr. Huntington and who never heard of HD. THen the neuro took my driving license and told my husband I was to havee no stress.

The way HD worked in more simple world was you waited until you got it and if you didn't, then your children did not have to worry about it.

one of my kids read all the wrong books about HD and ended dropping out of university for a while. HD has become aa flamable disease because some people who want to travel and work cannot get jobs with mothers with HD. When my mother died we made sure her death papers said nothing about HD, sahee chocked and had a heart attack. It was easier to have dead mother than to be a living mother with HD. There are things I hoped for like the test and I think the cure will be found for people with low cags first.

I am also one of the people with a case for the special diet for OSDP and Welfare which has gone on sincee 2006. I really wish someone else would get off their bums and continue the work I do. Along with HD, I have glasses, hearing aids, arthritis, astthma cold ait asthma and bad teeth. For the past 4 months I had a severe headache from cervical distonia which means standng makes me fall. I hope to have botox in the neck and if that doesn't work then I'm going for winter walk

You are not allowed to know a childs status which is probably a good idea. JHD is very rare, never been a child with HD in my family.
some people want to know and others don't.

I losst my ability to write in1996 and that now seems a good point to be moving from early to mid stage.

I love babies. Enjoy yours.

.



Edited 2 time(s). Last edit at 10/22/2011 12:00PM by dustyblues.

Thanks, Dusty. I am enjoying our new son!