I’m on holiday with my hubby, mum and dad in Spain, the last time we came here 13 months ago my hubby collapsed in front of us all with a suspected stroke. Upon getting home he had all the scans and was diagnosed with HHT (hereditary haemorrhagic telangestasia) and a rare case of 2 brain AVMs, needing surgery as he was high risk for a devastating brain bleed, and he had two surgeries in May and August. We are waiting for the final scan to know that he is safe from risk of bleeds and that the surgeries were a success.
it’s been a strange holiday in some ways, we went for a meal in the same restaurant where he collapsed last year, sort of as a bit of closure for him.
Anyway, that was just me explaining how we found out, and HHT is a dominant genetic condition which means 50% chance our children will have it, and can be life threatening. His dad and both his brother and sister have it, so for them it has been 100% pass on rate.
It’s only been on this holiday as we have started to feel like we are closing the door on the horrible risks my husband has faced, that we now realise we are probably entitled to IVF with PGD. It was my mum that realised and brought it up.
We are still going to use our remaining embryos, but will definitely look into it. Does anyone know what we do to see about whether we are eligible? Like who do we approach? Is it just GP referral?
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Orla9298
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Perhaps your local CCG would be able to help? They’ll probably want a referral letter from a gp or specialist of some kind. Good luck with pressing forward. I hope you’re managing to enjoy your holiday despite the memories xx
He’s been under a specialist at a London hospital so we can ask her I guess. Still having a nice time, hubby has wanted to go back to the same place for ages for some reason. He has no recollection of it happening at all, but for all of us it was horrendous at the time. Just happy that he was ok and hoping that the scans show it’s all been a success!xx
Yeah... I’m not sure how I would feel even if we met the criteria - after paying for 3 rounds to try more on the nhs would seem good, but we get so few eggs that I’m not sure it would be worth doing it and losing half of them. Worth finding out more though! I guess my low amh might rule me out.
I’m glad your hubby is now on the mend, what a scary thing to happen for you all!
I have just started 3rd round of ivf and am having egg removal 31st Oct. we are then getting pgs I’m not sure if that’s the same as you are asking about?
It lowers the risk of miscarriage and it massively increases your chances of a live borthodox 🙏🙏🙏🤞🤞🤞🤞
PGS looks at the embryo properly, for any disorders I think, but PGD only looks for the gene that causes the condition you are testing for, so in our case it would test for the HHT gene.
I had PGD this year due to a serious genetic condition I had 50% chance of passing on. I had to see my specialist (who supports me with the condition) have a discussion with them and they wrote a referral letter for me. The whole process is very similar to normal IVF but before you begin they have to find the gene or variant that causes the condition and create a test at the lab. Then once they have collected and fetalised they eggs, they biopsy the embryos and send off the biopsies to be tested at the lab (ours was in America). The embryos are then frozen while you await the results. They also usually test them for chromosome abnormalities while they are at it (PGS).
I hope you enjoy your holiday and find some closure xx
Yes you will almost certainly be eligible as long as you are within the age parameters, (the upper age limit is different in different Uk countries), correct bmi and are non smokers.
Go and tell your gp to do an urgent referral to your local genetics service. It needs to be urgent as you are actively trying for a child. You can look up the waiting times for the genetic service online usually, but we asked to be considered for cancellations and also were referred as urgent so we didn’t wait as long as it said we would online- only 8 weeks or so.
You should then be offered an appointment with a genetic counsellor and this is the person who can refer you for the funding and treatment.
Guys in London is the main place that does it but you may also be able to have some of your treatment at a satellite clinic locally, or you may be able to take your funding at a private clinic depending whether the clinic can provide the appropriate tests for your embryo. It may all take some time as the hfea have to approve each genetic condition that is tested for and if no-one has had the exact same condition as you on the funding previously then they have to start from scratch. However it may be that your condition is already approved for testing.
The funding is national and it doesn’t matter if you have already had free rounds through your Ccg, you should still be eligible for three rounds of ivf with pgd which will include transfer of all normal Frosties until you get a live birth. You won’t be allowed to transfer any Frosties which are tested as abnormal in anyway.
Ps I’m so sorry that you and your husband have been through this. I should have said that first... I just got carried away wanting to share the info about ivf pgd which is funding I accessed myself. X
Awww thank you so much for all that info, and don’t worry about the order of your messages 😊 I think you have inspired me to push for it as I was wondering if it might all take too long!
Do you know if AMH or FSh also come into it? It doesn’t seem to say so on the guidelines, just age and smoking like you say!
No, they didn’t seem bothered about that. It’s totally different funding and it’s not like the ccgs where they are trying anything they can to have to treat fewer people. This funding is basically there because the nhs doesn’t want to have to deal with sick/disabled babies further down the line, so they’re keen for you to do the ivf and have your embryos tested. I know that sounds harsh but it’s true.
There is a closed Facebook group called guys pgd if you wanted to take a look at that, but I do recommend the use of a private clinic if that option is open to you as, from being in that group, it seems like communication can be difficult with guys compared to how good the service is with private clinics (my clinic always rings back the same day, guys don’t!).
Definitely pursue it, the funding is worth thousands, and in my case it’s given me my 33 week miracle pregnancy!
That’s amazing that the treatment has got you to 33 weeks, you must be so excited that it’s so soon to meet little one.
Do you know how I find which private clinics offer PGD? The thought of being at a big clinic that isn’t quick to get back to you etc just scares me, a smaller clinic would suit me much better.
You can do a filtered search on the hfea website I believe but you’d probably then have to ring the individual clinics to check if they do pgd for your type of condition.
Meant to say as well that it’s your hubbie’s gp who will need to do the referral (if you have different gps) as the referral to genetics will go in his name as it’s his genetic condition. A letter from his specialist might help the gp understand why it’s helpful-if you’re met with any resistance!
Just written my letter to my GP and included all the nhs guideline documents and hfea approval list showing HHT is on there. And asked for urgent referral! 😊 thank you for your advice, I’ll see what I hear back!
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