PGD

This is a post I wrote many years ago when hoping to conceive our second child.  We have gone on to have two children thanks to PGD.

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''

Happy birthday squeaker, and other summer fun.

Things have been pretty sweet recently. Kids are all well, woohoo! Our baby girl turned two (how did that happen?). Our middle kiddle and her friends spend their school break times singing Frozen songs with dramatic hand gestures which she later performs for us at home. I went to an art exhibition with my lovely friend S, where the artist performed with film, guitar, lyrics, and smearing clay and gold over a board, dressed barefoot with blobs of foil over his forehead. When he made up a song consisting only of the lyrics 1, 2, 3 and 4 on a loop, I could have laughed, but really I found it quite beautiful. And our boy is away on cub camp for the first time. It very nearly broke my heart when they invited all the cubs away, and he looked round for me with eyes cast down, a knowing look on his face, thinking he wouldn't be able to. He is such a worrier. When he asked me, I said 'OF COURSE! WHY NOT! Daddy or I will just have to come as a parent helper, and while we're there, we'll get your physio, nebs and meds done. Easy as pie!'. Only they only wanted parent helpers that are actually good at things like putting up tents and making rafts out of a matchbox and a pair of old pants. And so the hubby's gone, and the girls and I are having a wonderfully dry girly weekend.... Oh, and it's raining out.... Oops. Have fun my gorgeous boys, I know you will x

PS: Another thing exciting me, our next fundraiser is planned! More on that soon.

CF regrets - line torture

He was 8 weeks old when he first went in for IV's (intravenous antibiotics) meaning antibiotics which are fed directly into his bloodstream through a line into a vein, where they open a can-of-whoop-arse on bacterial infections - they are what my husband would say, the 'booyaka' of treatment options (I have no idea if I am spelling booyaka right). IV's are regularly used in CF treatment.

He had bronchiolitus and likely secondary bacterial infections and was a very poorly and tiny boy. He had only been diagnosed 5 weeks before, and had yet to gain any real weight. He needed a PICC line to deliver these much needed drugs into his blood stream, a tiny tube threaded up his vein from his elbow right up to his chest cavity where the veins are stronger and less likely to be damaged. He needed IVs for two weeks, or more if he didn't improve, the hope was that this line would last the whole course. But it didn't. For reasons not entirely clear to me, lines get blocked, or veins collapse. So they start again. Two weeks later he came out having had lines in both hands, elbows, and ankles.

At 8 months old he had bronchiolitus again, as well as some ongoing chest infections. IV's time again. He was bigger now, and as before he needed a PICC line. His Dad and I took turns in taking him into the dreaded treatment room for these. For the first, I sobbed through the whole thing, holding him down hard so he couldn't move and cause himself more pain, while they tried to thread the damn thing up his tiny veins. For the second, his Dad held him while I sobbed outside the room, nurses trying to drag me away. Our tiny boy screamed and struggled, not understanding why we were holding him down to put him through this pain. This time took longer. The doctor was a trainee and tried first his elbows, then his ankles. After an hour and four long, failed attempts they called a consultant. He got a line in first time.

We knew that he needed the IV's, and that to do them, he needed a line. But seeing your child in pain is just incredibly hard. Did I tell you that to keep the lines fixed in place they SEW it into his skin? Yep, that's an actual stitch on each side of the clip that holds the line in place. Did I also mention that on babies this small, on this ward at least, they use NO ANAESTHETIC? Sedation or GA on poorly babies is obviously not a great idea, but magic cream or cold spray to numb the skin maybe? No, the junior doctor tells me that EMLA cream make veins shrink away from the skin, making it harder to find them. Besides, babies don't feel pain. HANG ON, WTF? Don't feel pain? Don't remember it later, maybe, don't feel it? No way.

The consultant came to see us later. He calmly sat us down (me still shaking a little, husband in shock), and calmly and very kindly told us in no uncertain terms to never let a junior doctor loose on our boys veins again, and to ask for him personally next time. He explained that yes, it is a teaching hospital, and yes, junior doctors need to learn. But let them learn on healthy kids who may have one course of IVs in a lifetime. Not on our kids who will have them often and where a needle phobia will seriously debilitate their treatment.

We've since seen that consultant on documentaries on the BBC. We love him!

We learnt that we are his champions. And whilst we hold our amazing CF team in a huge amount of respect, and are often asking our consultant 'if it was your kid, what would you do?' meaning, we really trust their opinions, we have also learnt to question things; make informed decisions; ask for second opinions; ask how many times they have performed a procedure; and most so all, never let anyone practice potentially painful procedures on our child.

Fortunately these days cannulas are much less of a problem, and thank god he has suffered no needle phobia as a result of all the procedures he had early on. He has the scars on his skin, we have the scars on our souls.

That is the advice I give new CF parents if they ask me. Be your child's champion too. Have a great day x

We dance, we laugh.

I started this blog to raise awareness of CF, organ donation, and our fundraising, as well as using it as a way to update our friends and family on our own life with CF.

Like everyone, I can't be positive all the time, and if I'm honest, I do have the odd wobble. But things have got easier, and I certainly have less wobbles now (I say wobbles, but it's more like falling into a crushingly black empty hole of despair and pain... Sorry, have I said too much?). But I also want to tell you that when you might ask me how he is, my standard response of 'oh he's great, he'll be fiiiinnnne' is an honest response. I honestly think he will be fine, and yes, maybe part of that is that I can't think of a future where he's not, but mostly it is because we are hugely optimistic.

We laugh, we dance. And no one could ever say that we don't make the most of our lives. We fill his life with fun, and love, and that is always our priority. I am quite a dancer, and when I say that, I don't mean it in a 'I can dance' kind of way, in fact I'm quite sure anyone who has seen me after a glass or five would be able to tell you, it probably isn't great! But we do. We are those rubbish kind of parents who completely ignored the well intentioned advice given to us about babies 'let them teach themselves to fall asleep in their own beds' and instead ended up rocking our babies to sleep, and we're still doing it with our nearly two year old at times. But rock we do, and to any kind of music in my head. We dance around the kitchen table all the time, fill our lives with friends and family, and we are so so happy.

There is not a day that goes past without us laughing. My husband who never stops singing (the most god damn awful eighties songs). My boy who makes me so proud I could burst. My beautiful girly girl who wears her heart on her sleeve. My feisty baby girl, who really isn't such a baby anymore. They wow me. So you see, CF is very much in the background, and only one small part of our lives, and certainly will never be what makes him, him, or us, us x

Another baby....

No, not again! Our family is beautifully complete, but these were the decisions we were facing 7 years ago. The desire to have another child is no small thing. As I have said previously, we chose to go down the route of IVF with pre implantation genetic diagnosis (PGD) to try to conceive. Going through IVF was very humbling, and I am eternally grateful for my own fertility, I know many others who were not so lucky and how this has affected and continues to affect their lives. We waited over two years more for funding and treatment for PGD after deciding to try. I don't go into this post without fully relating to that need and desire for a child.... 

Partly due to the cross infections issues with CF (cannot mix without the risk of passing on infections) and partly because it's just the world we live in now, there is a large and wonderfully active CF community online. This community of people with CF and parents of kids with CF, has been a life saver to me at times when no one else could fully understand what I was going through. I have come to know many who I now count as friends... and just as many who are no longer with us. 

But within this great online community there is one debate which comes up quite regularly, and this is of having more children when you knowingly carry the faulty CF gene. Like most, we didn't know we were carriers when we had our firstborn, but we do now. 

The comments which always sadden me are the ones from numerous parents who say 'WE could cope with another child with CF' 

- but it's not about US is it? It's about THAT CHILD, who would no doubt rather not be born with CF. It's their life, we just get to share those first years with them, love and guide them into being (hopefully) decent human beans. 

The other is 'I love my child with CF, so why would I not want another?'. 

- We all love our children! That is never in doubt. Just because I went out of my way to NOT have another child with CF, doesn't mean I love the one I have any less (rather, I wanted to protect him from potential cross infections risks should his new brother or sister have CF too). 

Another is 'I think the cure is just round the corner, so I'm going to risk it and have another child'. 

- God, I hope you're right, and whilst we are massively positive about our boys future, we are still mindful that they thought the cure was round the corner in 1989 when they discovered the faulty gene. Besides, he's had enough painful procedures in his short life already which I wouldn't wish on any child. Hopefully treatments will get better, but he will already have endured too much. 

Finally is the 'I like the idea of PGD, but think IVF will be too much of a roller coaster for me'. 

- I get this, I've done it twice. My ovaries went from the size of plums to grapefruits and I was hospitalised for 10 days in agony, had to measure my wee for weeks and inject daily into my belly for 13 months as a result of weird side effects to IVF.... BUT, a cycle is 6 weeks. It's not forever. CF is. How can people compare a few weeks of their own lives, to a lifetime with CF? I know the odds are against you, but is it not worth a shot? Maybe just try for funding and go from there? 

Only 5% of CF parents try PGD....this amazes me. We were beating down their door to try. For us it was absolutely the right decision and we are proof that it can work. 

A hugely emotive subject, and no right answers. I just hope that other parents might try and think less about what they want, and more about the child that they might be bringing into the world. And how that affects the other members of the family too. 

Truly no offence intended. To all those friends facing these hard decisions - good luck. Have a great day x 

Ahhhh, I'm bald!!!!

Hey, did I tell you about the time I shaved all my hair off? If it moves you enough to dig deep, you can still sponsor me by clicking Here ... It was a few months ago now, but I am still living with the repercussions. My hair is naturally bouffant, so it's a battle every day. If it was the 1980's I'd be laughing with all this frizz. Here are some before and after pictures to prove it... Have a great day x 

CF myths and truths - part 2

Follow on from This post, covering other questions I've been asked about CF.

Does CF only affect boys? No. CF is not linked to gender at all. It is a genetic condition caused by a mutation on chromosome 7. In the UK, 1 in 25 of the population carries the faulty CF gene, usually unknowingly. Carriers are completely healthy but if two carriers have a baby, that baby has a 1 in 4 chance of having CF (and a 1 in 4 chance of carrying no CF gene, and a 2 in 4 chance of being a healthy carrier of the CF gene). The same odds apply to every pregnancy. We know families where 1 in 3 of their children have CF, and others where all 3 children have CF. It's a genetic lottery. When a CF diagnosis is given, like us, most families are surprised and imagine that CF would only occur with a long family history of the condition, but this is rarely the case. Usually the diagnosis comes out of the blue.

Do our girls have CF? No. We made the choice very early on that we would not risk having another child with CF (emotive topic - which I will post on separately). When he was born in 2005, our only option was to conceive naturally and have a test called a CVS at 11 weeks gestation, and abort if the child had CF. Agonising, but an option we considered as we so desperately wanted to grow our family. However by 2007 they had developed a test that would detect the type of (fairly rare) mutation that he has, that we could use in conjunction with IVF to conceive. We were very keen to try this option, although the odds of success were just 1 in 5 when we started out. We also had to apply to our PCT to fund one cycle of PGD (pre-implantation genetic diagnosis) which cost about £8000. We had to wait over a year for this funding (not all applications are successful) and then longer for treatment. I will post about our PGD cycle separately (in case any CF parents are reading this and hoping to try the same) but the happy ending is our two beautiful girls - non identical twins born 4 years apart (if you can get your head round that one!). They are amazing and we feel so very lucky.

Does CF affect only the lungs? No, sadly not. The other major problem is digestion - which as I've explained before, he has to take a lot of medication for. This helps him digest fats and proteins, but not as effectively as we do. His digestions problems are caused by the duct between his pancreas and his guts, which never formed properly. In turn the problems with his pancreas may lead to him developing diabetes (CFRD). He is also at higher risk of liver disease and osteoporosis. The underlying problem with CF is the faulty movement of water and salt across cells, and in CF, this means stickier mucous. This affects all of his organs in some way, also affecting fertility.

More cheerful stuff soon. Have a great day x