HD Australia

Hi everyone,

This is my 1st time posting on here - i have been on here reading over posts and information for several months.

I am at risk of HD, my fiancee and i would love to have a baby.
I have always said i would make sure my child did not have HD - knowing how it has been seeing my dad, my uncle, and two aunties all passing away from HD, and knowing my sister is gene positive and i will have to see her suffer plus i have another sister and brother at risk....

However, the cost of PGD is high. What is the success rate for PGD and IVF??
Also... can a fetus be tested for the HD gene in the early stage of pregnancy - with then the option to terminate??

It seems i am at a point where our decision is whether or not to risk it in regard to having a child or not....

I am aware of the progress being made in relation to HD but I also worry about juvenile HD - what are chances of this occurring if we did have a child naturally??

Thanks for reading....

Hi Eld - thanks for posting. Have you and your fiancee talked with a geneticist or genetic counsellor yet? Have you had predictive HD testing, if yes - what is your CAG? If no - maybe that would be a good place to start.
I'm not sure of the rates of success with PGD IVF - maybe some other forum members may be able to help with that information (I'm not sure if the IVF clinics would help you with statistics- but if you have been tested and are gene positive maybe you can contact them and ask - they have some information online - maybe you could email/phone them).
When my 2 children (late 20s) tested gene positive in 2006 - the genetic counsellor and geneticist suggested if they wanted to have children, that testing of the foetus at several weeks, and the option of termination if the results were gene positive, was possible (we live in NSW - not sure if that's changed since 2006 or if it's different in other states).
So far my children are not up to the stage of planning for a baby - but their initial reaction to the termination option was negative - the PGD IVF seemed the better way to go (at that stage they had no idea of the costs involved with PGD IVF, I'm not sure how much it costs for the testing of the foetus at several weeks).
I hope other members can help you with more information. But, as I said, I think talking to a genetic counsellor, if you haven't already, is the first thing you should do.
It's a hard road - as you already know from your family. We on the forum are here to help one another walk along that road.
If you have further questions, please ask. And please let us know how you are going and what you decide to do - we can all learn from one another's experiences, as well as support one another.
All the best,
sonnie

Hi Eld,

My husband and I are currently starting the process of PGD IVF. My husband is gene positive and we want to have a tleast 1 child if not more but don't want to pass on the gene. I also do think that if you don't know if your gene positive you should see a genetics doctor and get yourself tested first you may be stressing over something you do not have to, the main reason my husband and I found out is because we were at where you are. So some quick answers to your questions.

Yes testing is a option they do it at about 15 to 18 weeks and want to know that you would terminate if it is positive so you have to have your mind set that you would otherwise they say they really don't want to test.

As for IVF PGD statistics I would recommend that you book in to see a IVF doctor even for just 1 appointment to talk about your options and they will give you all the statistics. I will say the numbers are scary but if you talk about real numbers and people falling pregnant naturally first or second or third try the numbers are actually quite good. EVERY person and case is just so different that I really wouldn't want to put numbers out here on a forum as I believe that if you are really thinking about it take the time and do the first appointment and make a more informed decision after that point.

We have been though all our appointments had all the bloods done and in the next few weeks/months as we are ready will start all the drugs to get things really going. We wanted to give it a go sure it is expensive but it is such a personal choice and we couldn't live with the fact that we didn't give it a go. If we were to meet someone who chose differently we would NEVER judge them as we know how heart wrenching and how much soul searching we have had to do to get to this point and we would always support anyone in any of their choices no matter the path they take.

We have even had people judge us for going IVF PGD they think that we are wasting our time and money and should just take the chance and know that there will be a cure. Then we have had the opposite and had people saying that they cant believe we would consider it any other way. All we have come to is that we are happy and comfortable in our decision and want to be there to support others NO MATTER what they choose.

We wish you all the luck and send you support for all the decisions and choices you have to make. No matter the road it is bumpy but take it one day one decision at a time and it will be ok.

Daisy.

Hi guys, thanks for replying...

The decision to get tested myself is a good place to start (and makes the most sense, i could be worrying for nothing)...
i'm just unsure i'm ready to know (a positive) result yet....

At this stage i am information gathering so we can make the best decision for us.

Sonnie i think your suggestion of having a chat with a genetic counsellor is a good idea - can that be arranged through the HD association?

Such an emotional time but we will get there...

Goodluck Daisy with PGD hope it works out well for you and your husband.

Hi Eld,

Yes - gathering information before making a decision is a good place to start. But if you haven't been tested I think you might be putting the cart before the horse. Even if you don't want to be tested, if you went through PGD and the embryo tested positive for HD, that would mean that you carry the HD gene, so you would find out anyway. HD can't skip generations, and there's a 50/50 chance you don't carry the mutated gene. So, what I'm saying is, if you talk to a genetic counsellor just about getting tested and the implications of getting results - that would be the first step. As Daisy said - there's a 50/50 chance that you don't have to worry about PGD IVF.

I'm not sure where you live - so either talk to your GP and see if they know any genetic counsellors, or you can contact the HD Association for information on what's available in your area, then phone and make an appointment - and you're on your way to discovering whether you want to be tested or not, and go from there. It would be good if your fiancee could go with you to an appointment - they may want to talk to you more than once - it's a lot to take in and can be overwhelming with information overload (get them to write down key points so you can reflect on it later).

I don't think anyone is ever prepared to get their HD results - you just have to take the chance so that you can move on with your life whether the results are positive or negative.
And accept that once that genie is out of the bottle there's no putting it back.

So - good luck - we hope you let us know when you make the appointment and how that goes, and if you have more questions or have problems locating a genetic counsellor, please contact us again on the forum (and let us know which state/city you're in so we can advise on what's available in your area).
All the best,
sonnie

Dear ELD

Being tested is the hardest - after that, it all comes down to science - Its a decision of life - do you or dont you want to know= trust me its the hardest decision you will ever make in your life. I am not a HD affected person, but my wife is.
I only know to say to you is feel what your heart tells you - If you dont want to know, dont ask - If you do, be prepared for the worst. I am honest, but the truth hurts. I honestly hope your tests are negative - If not, we are here to talk.

May your life be full and your test be not

We will talk more

Your Friend

Macca

Hi Eld - if you haven't located a genetic counsellor yet I found a NSW HEALTH site online called Centre for Genetics Education (www.genetics.com.au). I had a quick look and it has information on Find a Genetic Service, and Genetic Counselling Services and contact details (which included places all around Australia, not just NSW), plus lots of other useful information including IVF etc. Just click on the sections you want to find out about. It also explains what happens at the counselling sessions and so on.

Good luck - hope you find a genetic counsellor at the website I've mentioned. The counsellors are trained to talk you through the issues, explain your options, answer your questions, offer support etc - at no time should there be any pressure for you to be tested - it's entirely your decision.

Even if you do decide to go ahead and be tested, you can choose not to know your results when they arrive - (in a sealed envelope that can only be opened in front of you, so even the doctor/counsellor doesn't know your results until you want to know them) - right up to the last minute you can say you don't want to know the results, in which case they keep the results sealed in the envelope, locked away in case you change your mind later.

Has your father been tested or was his diagnosis made through his symptoms? Do you know the CAG count of your father or sister?

As I said before - let us know how you get on, if you feel comfortable doing that.
All the best,
sonnie

Hi Eld,

Just want to wish you all the best on your journey through this process. I am so pleased you are aware of JHD, having lost both my young boys because no Dr or even the Huntington's counsellors knew about it, it's nice to know people are aware and fear it these days.

Keep us informed if you like of how you are travelling, you have some good advice and it seems you are going to take it.

Love

Debbie

Hi Eld,

Only you can know if you are ready to be tested. You can choose to have PGD without knowing your HD status. If you don't want to know your HD status, they will not tell you if any of the embros test positive. Instead they will only tell you if they have any viable HD negative embros to implant. That may be because they have selected HD negative embryos from the HD negative and HD positive embryos, or that all of the embryos were HD negative. If embryos are not implanted, it may be if they wree just not viable, or that they were HD positive. You would have no way of knowing.

This would enable you to go ahead with your plans to have children who are HD negative, and make your decision to be tested a separate issue if that is your wish. As already mentioned, a genetic counselor could help you sort through these issues.

May