This is for other CF parents thinking of having more children. I thought I'd re-post it here as I know others who are thinking of trying PGD too who are reading. If you are, very best of luck, and thank you for following the blog x
''I hope this might give a useful insight into Pre Implantation Genetic Diagnosis (PGD) should anyone be thinking of following the same route to conceive:
We started by asking our CF clinic to refer us to the genetic councillors at our own hospital. There, we discussed PGD and we felt that this was the right choice for us (as opposed to CVS). As we both carry rare CF mutations (neither DeltaF508) we knew that we would need PGH (Pre Implantation Genetic Halotyping) - a very new test which wasn't available until 2006, so we felt lucky that we could follow this PGD route at all.
We were referred to Guys (the only UK hospital offering PGH at this time). They discussed the same issues with us, and also gave us more information about the test / process. Over the next 3 months they carried out blood works (on samples from both us and our son). Only then could they confirm that the genetic markers they would be looking for in the embryo would be identifiable, and that they could indeed offer us PGD.
Guys then applied for funding for the treatment from our local Primary Care Trust (PCT) on our behalf. This took months. 1 cycle of PGH at Guys costs between £6000-£7000. We were told that in our position (we only had one child, and he had CF) that the chances of getting funding were about 50%. Fortunately for us, our PCT granted to the funding - for one shot.
We then waited for a second appointment with Guys, where we signed consent forms and learnt more about the treatment. I had a scan to check all was well with me, and partner had a sperm analysis to check for any other problems. We were told that at the beginning of a cycle we had about a 1 in 5 chance of success, but if we got to the stage of having healthy embryos to implant, the chance will have risen to 1 in 3. We then went away, and told to call Guys on the first day of my next cycle. There were more delays (at Guys end) which was very frustrating, but we were delighted to finally start in Jan 08.
The treatment begins on day 21 of your cycle (3 weeks after the first day of your period) with a down regulation medication (which stops you ovulating naturally, and so losing the eggs they want to collect themselves). For me, this was simply a nasal spray taken twice a day. About 2 weeks into this I had scan to check that this medication had worked (it had) so I was then able to start the stimulation phase (whilst still taking the down regulation med daily). This was once daily injection which I did myself (into my tummy). The self injecting is much easier than it sounds, you hardly feel a thing and get used to it very quickly. Apart from feeling a little bloated and ovaries feeling tender, my spirits lifted as we counted down the days.
About 10 days into this I had another scan, and they found that I had responded very well to the stimulation (a little too well) and had many follicles (the little sacs that they hope will contain an egg) and blood tests showed I had high Oestordial blood levels meaning I was at high risk of a side effect of IVF called Ovarian Hyper Stimulation Syndrome (OHSS). They warned me that to go ahead with the cycle at this stage could be risky (the OHSS could get worse) and so I was taken off the stimulation medication and had daily bloods and scans for a few days in the hope that the Oestodial levels would come down, and the cycle could go ahead. Fortunately they did.
The last medication taken is called a trigger shot which is a one off injection late at night. It has to be a specific time as the eggs need to be collected exactly 36 hours after this. This is like natural ovulation surge and helps mature the eggs ready for collection. We went back to Guys for the egg collection operation (they empty the follicles with a needle). I was sedated for this op and remember nothing, just feeling a little groggy and uncomfortable afterwards, but nothing too bad. The eggs are then injected with the sperm (called ICSI).
We were very happy to have got this far (because we had feared that the OHSS I had would mean the cycle would be cancelled) and knew that the next part was out of our hands - we could only now hope for good news. We had 27 eggs collected. This is an amazing amount (more typical if you have over stimulated). The following day we had a call to tell us 24 of these eggs had fertilized (again, very good). We then had to wait 2 more days to see how many of those embryos made it to the biopsy on day 3 (the PGD test). Of our 24, 14 made it to this point.
In typical IVF, embryos are transferred to the womb at 3 days old, but in PGD they can only test at this stage (they remove one cell from each embryo with a very fine needle). Whilst testing the removed cell, they hope to grow the embryos on to 5 days old, when they are called blastocyst. This has the advantage that those embryos that make it to blasto stage are probably the stronger ones, but the disadvantage that fewer make it to this stage (but if they didn't make it to this stage in the lab, the chances are they would never have made it anyway) so if you have few embryos to begin with, you could have none make it to blasto, and no transfer will take place. So to have as many embryos make it to this stage as we did was fantastic.
We waited until day 5 to hear how many of our 14 tested were healthy, and were relieved when we were told that only 4 were affected with CF. So on day 5 we had the strongest of the healthy 10 transferred (this is the easy part, much like a smear but also being scanned at the same time, and is quite moving as you get to see the embryo go in on screen). We were also told that as the embryo was classed excellent, they put our chance of success at about 50%, so we were delighted. 10 minutes later I was going home to take it easy and just wait and see.
On day 6 we had a call to say that of the 9 embryos we had left, 4 were suitable to freezing, so we now have 4 little snow babies (frosties :o) waiting for us on ice. A frozen embryo cycle (FET) is much cheaper (about £1000) than a complete fresh cycle, as the expensive part of PGD is in the tests and the egg collection op. So we hope to use these frozen embyros to grow our family in the future. We then had to wait 11 anxious days to do a home pregnancy test to find out the outcome of the whole cycle.
At this point our story goes slightly off track as the mild OHSS that I had been suffering with since the stimulation phase became worse. Up until then I had just felt mildly bloated and a little uncomfortable. But by day 16 my tummy was hard and distended and I went to my local hospital to get checked out. I ended up being admitted for 2 weeks, and looking about 6 months pregnant, I was so swollen (fluids were leaking into my abdomen and my ovaries were 3 times there normal size). The only silver lining at this point was that I had been warned that moderate/severe OHSS (which I now had) was associated with a positive pregnancy test, as the pregnancy hormones add to the problem.
Indeed blood tests confirmed that I was pregnant, yay!
The worst part of the treatment for me was the amount of time I spent away from home. At times I was travelling to London daily (door to door at least 5 hour round trip). The OHSS was obviously an unfortunate (and rare) side effect, and it was at times painful, and definitely frustrating (and ongoing, with blood tests every 3 days for the first 3 months of pregnancy, and I have to inject myself daily to thin blood, and this will continue for another 11 months). But when I compared this to the time our son has already spent in hospital in his 3 years, I would never complain. The chance to have another child out weighed any of these short-term down sides for us. Fortunately our son has been very well in this time, otherwise this would have been all the more difficult. Actually for me, the most negative times were not in the treatment itself, but in the waiting to start. I'm not the most patient of people, and it can feel like your whole life is on hold when you want something so much.
The best bits were that it was an exciting adventure. The science of it all amazes me, and I feel so lucky to have been given this chance at all. A cycle is generally just 6 weeks from start to finish, so whatever happens in that time, you can remind yourself that its is not forever, but a lovely baby is. I am now 8 weeks pregnant, and although it is early days, we are beginning to share our good news (hard not to when we have obviously been up to something for weeks so people are suspicious!). We feel very lucky and blessed, and we're glad that we chose this path (although I understand that it's a very personal decision, and we were very lucky that it was available to us). Had we not become pregnant, we would be attempting a frozen cycle as soon as we could. We've come this far, and we'd have no regrets for trying PGD. Good luck to anyone thinking of trying in future. One thing I would suggest to anyone even considering this is to get the ball rolling early. It took around 2 years from our first request for a referral to actually starting treatment, by which time our son was 3, a larger age gap than we had hoped for, so I do wish I'd asked when he was younger. You can always choose to delay start of treatment later x''
