3rd Round and already dealt a blow!

[Franco81]

Hi everyone

I haven’t been on here for a while since we took a break of about a year following two failed cycles of ICSI. We moved and renovated a house which took all our time which also led to me changing job (I worked at home) so it’s been a lot of changes recently which I haven’t always dealt very well with!

Finally I’m back to a point where I’m starting round 3, I’ve upped my exercise, lost a few pounds and have started having reflexology to finally look after me!

I was feeling really ready and started noresthisterone yesterday, Buserelin due to start tomorrow, but I’ve just been thrown a really unexpected curve ball!

My Dad came round to see me last night (I can’t believe the timing) and I could tell he was worried about something. My poor uncle (my Dads brother) has been diagnosed with Huntington’s disease. I’d love to hear if any of you have experience of this in the family as I’m just starting to look into it a bit more. Basically it’s a genetic condition and if one parent has it, you have a 50/50 risk of passing it on to a child - obviously one of my Dads parents had it for his brother to now have it. My Dad is waiting for the tests but apparently they take a few months and there’s no way of speeding it up. If he has it then I have a 50/50 chance of having it too then obviously there are concerns for my potential offspring.

My understanding is that it’s not very nice and from onset of symptoms you have a life expectancy of up to around 15 years. It usually comes on in your 30s to 50s but can be earlier or later and even rarely in children - juvenile Huntington’s.

I just don’t know what to do, whether to stop my cycle and wait for results or carry on and just hope for the best with the worst case scenario being pretty horrible. Apparently they can test embryos before implantation but will only do this if I’m diagnosed and there is of course a risk involved. I’m waiting for our fertility clinic to call me back but I just feel completely knocked back by this, I was so positive and focussed and now I’m really scared about a positive outcome!

I literally can’t believe the timing although I have thought, if we had conceived years ago when we were first trying we would not have known until it was too late anyway.

Any advice? Or any experience? I really don’t know how to process this at the moment, I’m feeling completely numb.

Anyway thanks for reading and lots of love and strength to you all

Sarah xxx

[DianeArnold Partner Nurse Fertility Network UK]

Hi Franco. I was so sorry to read this and can only give you my thoughts. Huntington’s Disease is not very nice, no need to go into detail as I’m sure you’ve done your research. If I’m honest, I would wait and see what your father’s result is before deciding what to do. Hopefully he is clear, then you can plan the cycle again. I do realise how hard you’ve worked in preparation and “stopping before you have started”, but hopefully it would mean just a few months delay. Obviously your clinic will give you good, honest advice. However, I wish you well with whatever is decided and I truly will be thinking of you both. Diane

[Franco81 in reply to DianeArnold]

Thank you Diane, it’s such a completely unforeseen complication and one that might affect everything.

Thank you for your response, the clinic have been great actually and have suggested a timescale in which to decide and offered to support us whatever we decide to do. Xx

[DianeArnold Partner Nurse Fertility Network UK in reply to Franco81]

Hi. That’s good to hear you’ve got that support. Diane xx

[Faith27]

Hi Sarah, apologies that I have no advice or experience to share but I just wanted to say that I'm sorry to hear about your Uncle and it's understandable that this news is having an effect on yourself and causing concerns. It sounds like you need some advice from the medical profession and hopefully you'll come to a decision with what to do shortly - it's horrible deliberating such a decision when there are so many ifs and buts to worry about. I just wanted to wish you well and all the best for the future xx

[Franco81 in reply to Faith27]

Thank you for your reply, it’s awful to see him suffering and is now a concern whether we are risking our potential future children going through the same pain. It feels so far off that we’d even get to that point at the moment but we are now having to think of all eventualities.

I am going to speak to the charity as soon as I can on Tuesday.

Thanks for your kind words, it really helps xx

[Faith27 in reply to Franco81]

I bet it's awful to see. You must be going around in circles right now trying to settle your mind with a plan and decision while trying to deal with the sad news about your Uncle and worrying about whether it's geneticly going to affect your future offspring.

I hope you are getting lots of support from your partner during this time but if you ever need to chat, feel free to private message me xx

[Franco81 in reply to Faith27]

Ah thank you so much. My partner is great but also very optimistic! Which is good a lot of the time but I feel like I’m just bringing a downer on everything when I’m the one having to talk about the very difficult ‘what if’s’!

Xx

[sarahharas]

Hi Sarah, I am really sorry to hear this. After all what you have been through, such news must be just devastating. I dont really have any advice, just wanted to give you a virtual hug. I think the onky thing you can do is to wait for your dad's results. What age was your uncle diagnosed at? Some of these cases are sporadic and not inherited and a very late onset might hint to a sporadic form. I can imagine how hard this is, first for such a horrible thing in your family and then the decision of having a baby.

I wish you all the strength you need to go through this.

Xx

[Franco81 in reply to sarahharas]

Thank you so much for your message. Feeling support really helps.

I do feel comforted in the fact my Dad is now 65 and it is most common for symptoms to appear in your 30s to 50s but there are exceptions so we won’t know for sure until we get his results.

We’re still just trying to decide whether to postpone this cycle. We have until Friday to make our decision.

Thanks again

Sarah x

[Lizzielizzielizzie]

If your dad does have it then I believe it is possible for you to have pgd on your embryos without being tested yourself if you don’t want to know. It’s called non disclosure testing and basically they test to see whether the embryos carry the gene which Huntington’s would be on, from your side or your partner’s side. You then discard any embryos which carry the gene from your side (which may or may not carry Huntington’s - you’d never know if you’d chosen not to know your own status).

I strongly recommend asking your gp to refer you to genetics now for genetic counselling, hopefully they’ll be willing to get you on the waiting list whilst you await your dad’s results xx

[Franco81 in reply to Lizzielizzielizzie]

Oh I see! I didn’t realise they could do that although I have been reading lots about getting tested and it seems most people don’t want to know. But that’s a great way to not have to put our potential children at risk.

Our clinic said they are unable to test but I think the Huntingtons charity offer some support with it so I’m sure it’s possible.

I’m going to get an appointment with my GP tomorrow then ring the charity for more advice on Tuesday before making a decision about this cycle. I’ll be gutted to cancel now but have to think about all possibilities.

Thank you for your message, it’s really helpful x

[Lizzielizzielizzie in reply to Franco81]

It’s definitely possible and you might end up finding you’re eligible for nhs pgd funding but again the access route for this is through nhs genetic counselling. Good luck. X

[Franco81 in reply to Lizzielizzielizzie]

Wow, thank you so much for this info. I’ll talk to them about it x

[Lizzielizzielizzie in reply to Franco81]

There are a couple of women on the “Guys PGD” private Facebook group who have gone down this route- if you join the group you could probably contact them to find out more- but they have an affected parent rather than uncle so it may be a bit down the line for you x