Hi everyone,

Have never posted before, however have always found this forum very helpful.

My husband is gene positive for HD, his CAG is 38, so reduced penetrance. His father also has a CAG of 38, he is 68 years old with no symptoms. My husband's uncle is symptomatic and in his final stages of HD, with a count in the 40s, I think 45.

If it weren't for my husband's uncle being symptomatic, we'd so far never have known about HD running in the family. It is beleieved that my husbands grandfather would have also had a count of possibly 38, however died of old age, with no symptoms. His grandmother was tested, and doesn't have HD. So it was through process of elimination that we can assume it was his grandfather that had CAG 38 too.

So, back to why I am here! I am currently 10 weeks pregnant, with our first baby. We are so over the moon, but also scared and worried for our little bub. We have discussed with my husbands neurologist, and genetic coucellor possible options for us and this pregnancy.

We have made the decision to have CVS testing, however have decided to only be told if the CAG has expanded from my husbands count of 38. We are ok with the risk of passing on a reduced penetrance gene, as so far people in our family have lived a long life with a CAG of 38. We realise this might not necessarily be the same for everyone with a count in the grey area, but it's a decision we can live with. We are not going to be told what the results are, just that the count is 38 or under, and our child can find out for themselves when they are older.

If it is higher than 38, we will be told what the result is and go from there.

We have had many sleepless nights, with so much concern for our baby. We are so in love with it already, but have seen first hand how devastating HD has been for my husbands uncle, and don't want that for our child.

I would like to hear from anyone with a similar experience, or anyone with some knowledge in this area.
Does anyone know the likelyhood of a CAG count of 38, expanding into the 40s or more when passed on to the next generation? Has this happened to anyone before? I have read that reduced penetrance genes are generally stable, but can expand, however it's rare?

Thank you for reading. Look forward to hearing from someone soon.

Although I am not in your same situation I have also read that gene expansion is rare. There might not be a lot of information to go on as of yet with this testing being relatively new to the medical community. Best of luck and congratulations!! Hoping all is well for your littel one!

Thank you for your reply, it's nice to read that others have heard that it's rare too!

All is going well with our bub, heard the heart beat the other day which was very sweet.

I had the CVS about 11 days ago now and still waiting on the results. Will probably have them in 3-4 days time. The wait is the worst part, as it has given us too much time to re-think things, and also make us doubt that we're doing the right thing.

I just hope that if our baby inherits my husbands 38 cag, that we aren't one of the rare cases where the gene expands into the 40s. I'll be sure to update on here as to what happens. I have a good feeling we'll be ok.

On Wednesday night my husband and I received the saddest news we could imagine. Our beautiful baby has inherited an expanded copy of my husbands grey area cag, therefore they have a full penetrance gene, with 100% chance of being symptomatic in their lifetime. It's sad for so many reasons, and just proves to me, even more, how cruel this disease is.

The chance of this happening is rare, and we're just very unlucky.
I'm sad for the baby I've now been carrying for almost 15 weeks. I'm in love with it, but the implications of raising a child, when we know their gene status and trying to ensure they have a completely normal upbringing, is too much for us to comprehend.

I have my own health issues, and waiting for better treatment or a cure is something I'm all too familiar with. While the current research into HD looks very promising, I don't want to have a life longing for it for the sake of my child's life. There are enough things to worry about as a parent, HD isn't one of the things we want to add to the list.

We are booked in for a termination and are devastated. There is no right or wrong decision in this, both are difficult and both are unfair.

We thought we were doing the best thing for us and our baby by only being told if the gene had expanded into the 40s as we knew the chance was low of that happening. But it outsmarted us.

We will have our baby one day, and I'm hopeful for the other options available, in the future. We said all along that we would try naturally once, and if it didn't work out we'd look into PDG.

I can't go through this process again. Falling pregnant after 5 months of trying, the 12 week wait for the CVS, the 2 week wait for results. And in between that the dating scan, and 12 week scan that make you fall utterly in love with that little growing baby, who is made up entirely of you and the man you love.

I'm so sorry to hear that, and will be thinking of you with much love

I have tears in my eyes for all of you.

Will

I am so sorry to hear of your sad situation.

If I can share a little for what it's worth.

I am the first in our family with a cag of 36. Became symptomatic in my early 50's. That was about 5 years ago.

My oldest son and his wife knew there were risk before his wife became pregnant. During this time they were referred for genetic counselling and got a better understanding and according to them they will probably test before attempting again.
When asked about it my son said having more knowledge would not change their decision to have the baby.

Adam is 15 months now, sweet, happy and growing fast. Due to the distance I don't get to see him a lot but hopefully that will change. Personally I worry about him having an expanded gene. I worry about my 2 sons as well. Perhaps there is hope on the horizon and an effective treatment.

Your post was the first time I encountered that the gene is stable and not likely to expand when in the reduced penetrance range.

I wish you and your husband the best in your decision. Thoughts and prayers to you all.

Mike

My heart breaks for you and your husband. Hugs to you both

We haven't heard from you in a while. Your post brought tears to my eyes. I hope you and your family are keeping well.

Hi Kathleen,

I was just on here by chance, checking in to see if anyone had posted recently on pregnancy etc, and saw your post. Thanks for checking in

It's been 4 months since we lost our little bub and currently I am doing well. It was a long and hard grieving process, and it's only recently that I've started to feel better, and I think that's because I've had some postive distractions.

We started IVF with PGD back in November. And I am now preparing for my frozen embryo transfer, scheduled for early in the new year.
We are very lucky to have 3 HD-free embryos. We had 5 biopsied in total, and 2 were postive for HD (unsure of CAG).
I'm finding the IVF process to be exciting and enjoyable so far?mostly because everything is going so well.

I just hope and pray that all 3 of those embryos become our future babies and that I don't have to do another IVF cycle again.

In some ways we wish we tried PGD from the beginning and never took the risk that we did, but we're still very thankful for the love that our little HD bub brought to our lives.

Also for those interested in grey area CAGs: We have been informed by our wonderful geneticist of the grey area expansion odds (from a very small study): there is a 50/50 chance of our child having a CAG of 38, if they do inherit the affected gene, there is a 20% chance that gene will expand into the full penetrance range of 40 and above. Unlikely it will be high 40s.
So overall, there is a 10% chance of children inheriting full penetrance genes from a parent with a grey area CAG. So we were quite unlucky.

He also mentioned that expansion into the 40s is more common for those who pass on a CAG of 38-39, and not so common for those with a CAG of 36-37.

I hope this info helps anyone in a similar situation.

Good to hear from you. So sorry for your situation.

The information you posted is new to me and welcome in my situation. Sorry it didn't work out for you and you husband. I'm glad you checked back in. We all learn something new everyday.

Take care,

Mike