IVF/PGD - process starts

We've finally had our first appointment at the IVF/PGD clinic to talk through the process. I guess they were checking us out as much as we were - suitable candidates to be parents??! I am not looking forward to starting IVF, as I hate needles and the thought of injecting myself with hormones. I was still hoping we'd get there eventually naturally, but so far it hasn't happened, and given what has happened to us, I guess there's not much alternative. They will send us the forms to get everything started, and then they'll start developing the Fluorescent In Situ Hybradisation (FISH) probes they will use to analyse any embryos we manage to get for the unbalanced translocation. This shouldn't take more than three months, and then we will be able to start the treatment.

A week sailing

I did something a little bit brave, and signed myself up for a week-long sailing course - 5 nights on a sailing boat, staying in a different marina every night. Now this would be ideal in the middle of the British Summer but it was end November/beginning of December, and we actually had gale-force winds for the first three days! Plus it was very cold, and there's no heating on a wooden boat, so you're relying on plug-in heaters, which of course aren't on when you first wake up in the morning! Brrr.

From what I've been through, this week was good for two reasons: one, my days were spent thinking about how to survive the next wave/avoid being washed overboard/not getting whacked on the head by the boom, instead of torturing myself about dead babies and about others having seemly perfect pregnancies with perfectly healthy babies at the end (mainly the SIL). And second, I was so exhausted by the end of the day that i went to sleep as soon as my head hit the pillow, even though I was in a minute, cramped space in the bow of the boat. These days I find it very hard to sleep as my head is swimming with unpleasant thoughts, or once I'm asleep, I wake between 3am-5am, again with these poisonous thoughts swimming around, and as a result I'm always very tired.

Anyway, here are some of my favourite photos from that week:



Moving On

This is likely to be my last post in a while. The cemetery rang to let us know that our plaque, to our two boys, was ready. We went to visit it, and it’s perfect. Granite with gold lettering, it shows their names, dates of birth, and how old they were when they were born. The time was right to scatter our second son’s ashes, which we did on the lawn in front of the memorial plaque. Now they are both together, and it feels like we’ve come to the end of this particular chapter in our lives.   

I want to move on now. I know I can’t speed things up, but I also know I don’t want to feel like this my whole life. My major remaining issue, which is really going to ruin my life if it doesn’t resolve soon, is the bitterness, jealousy and, I’m sorry to say this, the utter rage I feel towards family and friends who’ve had babies since we’ve been trying. The way I feel about my two boys, when I’m on my own or with adults, is an aching sadness. But when I’m confronted with the children of friends and family, as I’ve mentioned in the past, then the pain becomes poleaxing.

But I don’t want to always feel this way. I want to be a favourite, spoiling auntie, if only I can get over these feelings. When – if – I get to that point I’ll post again, as it will be interesting to know how long it takes.

Before I sign off, I wanted to make a note of a few things that I hadn’t mentioned in past posts. Firstly, it took me a whole year before I even showed my mother the photos of our first baby. And only after we had counselling for our infertility issues and I couldn’t hold back on my sorrow any longer.  But even then I couldn’t be completely honest with them. It took the arrival of our second baby and to be confronted with organising a funeral service for both of them for me to admit to my parents that we’d named our first son. That communication was terrible, and it’s my fault; I don’t know why it was so difficult, but it was.

Secondly, I’m still not back at work. I had our last baby end May, and it’s now almost November. I will go back to work though, scaling up my hours and days until I’m back full time. I’m not on anti-depressants, anti-anxiety medication or sleeping pills, but I would be if I hadn’t had this time off to digest what has happened to us. And also, I have had a lot of skilled counselling, which has proved invaluable and a big reason why I seem to have preserved a semblance of sanity.  There is a dearth of experienced professional psychological help in this area, but if you can find it, I recommend it to anyone.

                                                     

Time for reflection

I'd been feeling ok until last week, when my husband forwarded me an invite to his cousin's daughters two-year birthday party. I fell into a deep depression again, not helped by another email soon after which was putting a date in the diary for all my husband's family to get together before Christmas, since not everyone will be there on the day. That means three babies/toddlers will be there, and at the moment I see them as the 'ghosts' of the babies we thought we were having but never did. The pain is quite extraordinary. I told my husband that I really didn't want to go and he was ok with that, which relieved me. I hope I change my mind closer to the time, since I do realise I'm dividing him, not least the rest of the family, and it's not like I can make those children 'unexist'.

However, at the weekend, I read about the controversy that Ricky Gervais set off when he referred to 'mongs' - i.e. an insult to those with Down's Syndrome. He had a run-in with a lady called Nicola Clark, who is the mother of two girls with autism, who rightly took issue with his use of language. I'm now very alert to the lives of people with multiple children with disabilities, firstly because frankly, until my experiences, I didn't realise it could happen more than once. I started reading her columns in the Guardian Newspaper, and was drawn to one column where she discusses how she is reluctantly considering asking for one of her daughters, 14, to be taken into care, as neither she nor her husband can take much more of her violence and aggression. I started to read all the comments below her article, many of which are from people also facing a very tough time with their mentally disabled, but physically able, children.

Here, I reproduce one of the comments, which in my view is unbelievably harrowing:

``Let me tell you what we have spent this morning doing so far. We have put up 3 enormous pads, with attractive owls, animals and numbers on them (wipe down tough plastic) on the walls of my son's bedroom because his headbutting has smashed and cracked the plaster right through to the lathes.

So we are constructing what is basically a semi-padded cell.

The endless round of biting, headbutting, kicking, scratching, slapping, punching screaming, and utter destruction of our house has just become normal.

Imprisonment in the house has become normal too, only going out for food. Supermaket trips can be a bit hit and miss with our dear little 'Destructinator'.

He's doubly incontinent, doesn't speak, but at last he's in Special School which is great, because the insanity of life stops for just a few hours a day during the week. School holidays become terrifying, and already I'm getting upset over the 6 week Summer holiday.

Nicola, you are not alone in your family struggle to live with this. People who live daily with this can really understand how it gets to a point where you sadly have to realise you can no longer go on, you are breaking, after finally living at breaking point for years.

I suggest you try residential care as an assessment placement for a few months. See how everyone gets on, so that you can keep your options open.

I'm so sorry that it's come to this for you, but I understand totally how it is, and understand how it's become impossible to carry on.''

I suppose I'm trying to get my heart to accept that our boys, if they'd turned out physically like their father, would have become 6ft4 and 14st of mentally disabled adult male, and that's not a great situation to be in.

 If you have time, do read her article and the comments below - the link is here: 

http://www.guardian.co.uk/commentisfree/2011/mar/31/daughter-care-vulnerable-disabled-people

So, what now?

So now the enemy has a name: an unbalanced chromosomal translocation. So what can be done? We have the following options: First up, `try again' and *hope* nature will be kinder this time and create a baby with either normal or balanced chromosomes. Because they know what the problem is, we can be given a CVS from 11wks, when they can check the chromosomes. However, and I'm sure you're ahead of me on this one, this means that if the test comes back and the chromosomes are unbalanced, we have the choice of letting nature take its course or bringing things to a premature end. Again. Right now, the thought of ending a pregnancy a third time is almost too much to bear. Because this thing can keep happening over and over, I could be faced with taking this decision countless times. Argh!!!

Already, I have to look in the mirror in the morning, and the person who looks back at me is a Woman Who Has Had Two Abortions. Who is she? I never thought in a million years I would say that about myself. I thought that as long as I was careful and in a stable relationship, then surely I would have minimised my chances of having an 'accident' and being faced with a choice I'd rather not make. But envisage what has actually happened to us over the past three years? Never, never, never.

It has to be said that trying again naturally is the hospital's preferred choice if we do want a family. I get the impression that as long as we get a diagnosis before 14 weeks, then I should be pleased because I can have an op and that's the end of it. Personally, the fact that it's an operation rather than labour & delivery gives me no comfort whatsoever. In fact I preferred to give birth to them both. At least we got to see them and to cuddle them. In fact I would go so far as to say I preferred having my last boy later, precisely because he had got to the stage where he had layed down some fat and looked a bit more like a baby. Our first baby was still very young gestationally and had quite delicate, transparent red skin. Anyway, I digress. Back to options. So to recap, we have `try again & test at 11wks'. On a glass half-full view, because it's chromosomal, we have a 50/50 chance of it not happening again, so yes, maybe nature will be kinder and give us an unaffected baby.

Secondly, we can try IVF with so-called pre-implantation genetic diagnosis (PGD). This is where they do standard IVF, but before they pop any embryos back inside you, they take a cell and test it for your particular genetic or chromosomal condition. Only embryos free of your particular genetic or chromosomal condition are put back, and hopefully the embryo will take and turn into a live, healthy baby. Cursory research indicates that while it can and does work, there are no guarantees. There are all the usual problems associated with IVF, and in some cases ALL of the embryos they manage to create are found to be affected, leaving none to transfer. Another factor is the cost. IVF with PGD in the UK costs around £10,000. Yes, 10k. And no, you don't get your money back if it doesn't work. Some people are able to get NHS funding for between one to three cycles, but not everyone is. And in these days of budget cuts, the NHS is slashing spending, right, left and centre, so I'm not positive we'd get funding for this one.

Thirdly, we can adopt.

We can also call it a day and give up, otherwise known as getting on with our lives. Finally. I do favour this one at the moment, I have to say. The past three years have been so exhausting and traumatic that to risk it continuing seems to be bordering on madness. If we go the natural route, I don't want to be faced with making a decision a third time. Just writing the sentence makes me want to vomit. It just seems like a really irresponsible thing to risk.

If we go the IVF route, I keep thinking of the worst-case scenario: don't want to reach 40, or whenever I hit the menopause, and to look on back on my life and realise that 1) we've done nothing but IVF for the past X years 2) we are now broke 3) we are barely talking to each other, 4) and to top it all we are still childless.

Oh well, I better hope that the worst-case scenario doesn't happen, as we've discussed it and we want to go down the IVF route. I'll keep you posted.

Finally, a reason WHY

The chromosome test DID come up with something. It’s a new test, called array CGH, and it turned out that both boys had something called an unbalanced translocation of chromosome 6 & 9. The geneticist rang to let me know. I was SO relieved. We finally had a reason for our three-year nightmare.


So what is an unbalanced translocation? We each have 23 pairs of chromosomes, one set from our mother and one set from our father. In our babies’ cases, bits of chromosomes 6 and 9 had broken off and swapped places. But one boy ended up getting too much of chromosome 6 and not enough of chromosome 9, and the other boy had the opposite problem, too much of chromosome 9 and not enough of chromosome 6. They found the problem first in our second baby, and they then tested tissue they had kept from our first baby’s 2009 post mortem, and this showed the same issue. Because that both boys had the same issue, this meant that either myself or my husband had a balanced translocation of chromosomes 6 and 9.


And we have just found out that it is me.

Aftermath

Our boy’s post mortem confirmed severe ventriculomegaly, and a narrow acqueduct in the midbrain, and 'neuronal heterotopias in one dentate nucleus in the cerebellum' which we were told meant that certain brain neurons had not moved to the right part of the brain as they should have done by that stage, another sign that his brain was not well.

Our geneticist ordered a test of the L1CAM gene, mutations of which could explain our babies’ symptoms. There was a condition, x-linked hydrocephalus, which could explain both babies’ symptoms. This was a genetic condition which is passed by the mother and affects only boys. However, this gene turned out to be fine. We were told that that was it, there was nothing else they could do. There was one more chromosome test they were going to run, but they didn’t hold out much hope. All they could say was try again and hope that it didn’t happen again. By this time we were both totally put off ‘trying’. Yes, let’s conceive a baby we’re going to have to consider killing – wow, what a turn on.

Head vs Heart

Getting these diagnoses is all very well, and perhaps the medical profession thinks we should be jumping for joy at having averted such a terrible life with a disabled child, but the reality is not as neat as that. The reality is that in ending the life of a baby you want and love, a part of you dies for ever. It may be ‘for the best’, it may well be the case that you are saving him or her from a life of suffering, but what’s right on paper is not necessarily what’s right in your heart.

Today, I still torture myself that I should have carried him to term. At least I would have something to do, something to focus on, instead of the utter emptiness and pointlessness I feel in my life currently. But then, if he’d suffered as we’d feared, then that would be quite selfish.

What this sort of experience does is utterly destroy your relationships with others who’ve managed to have children with apparent ease. Between our first baby and our second, my sister in law announced she was pregnant. My rage was extreme. I just thought, HOW DARE SHE!!!!! Why doesn’t she get to sit in a bath while it fills up with her own blood? Why doesn’t she get told that her baby’s brain is f***ed up???? Why does he get to live???? While most of my rage has been aimed at her and the baby, it now extends to all friends and family who have had a baby. We are being left behind, and there is nothing anyone can do about it. I do everything I can to have as little to do with them as possible. The pain is too great.

When you’ve taken the decision that we have done with our baby, then outsiders are obviously going to think the following: that the baby was unloved, unwanted, an inconvenience. When in fact, the opposite was true. Both our babies were loved, both were wanted, neither were an inconvenience. Yes, I am angry. With life. With fate. With myself.  I miss them and wish I’d kept them. I wish both had been ok. But they were not and we thought it best for them, *not for us*, that they not suffer. Someone once asked me why I wanted a perfect baby. I hadn’t realised I wanted a perfect baby. But on reflection, a baby within the ‘normal’ range? Yes. Until our experiences it hadn’t occurred to me that any other outcome was possible.

The Funeral

This time, no-one was going to stop me having a funeral. The ceremony was for both of them and was carried out by the chaplain who'd written to me after the cremation of our first boy, and who'd seen us in the hospital after I gave birth to our second boy. I'm not at all religious, but he was a really nice person, and just what we needed for this ceremony.


I wanted our families to be in no doubt how much pain we were in. Again, it was this issue of because you've taken this decision, that you love your child less than anyone else, or that you feel less wretched than anyone else who has lost a baby. It was a lovely ceremony, and I hope we did them both proud.

                                      

We meet at last – I love you!!

This time, there was no hanging around waiting for a room. We now found out that the hospital had a suite set aside for situations such as ourselves, and my husband could at least stay with me as there was a sofa for him to sleep on. Also, there was no hanging around in inducing me, and despite that it was almost 11pm, I was induced almost immediately. Thankfully, my body responded quickly to the medication, and the contractions started fairly swiftly. I was again hooked up to a morphine pump, and at 6am, thanks to a wonderful midwife, I had our little boy. I know this should have been the saddest moment, but instead I was elated. I was so relieved to finally meet him at last, the love I felt for him was overwhelming. He weighed just shy of 4lbs, but to me he was huge. How do women do it when babies are 9lbs?!!! He looked perfect in every way. He even had dark hair like me, but the rest of him was all daddy – the arms, the feet. But I knew when I held the back of his head that it felt like a water-filled balloon. The horrifying thought occurred to me, thankfully for only a brief moment,that perhaps his head would burst if we weren’t careful. Thankfully that didn’t happen.  We dressed him in a little babygrow and hat I’d bought in Mothercare the day before and we cuddled him. And my initial elation turned into sheer sobbing desolation.

My parents came to see him and so did my sister. My husband’s parents also came to see him. I didn’t want him to be thought of as a pregnancy that didn’t work out. He was a little baby, a real human being, even if his brain was in a very bad way, and I needed them to realise that he existed and that he wasn’t a figment of our imagination.

The hospital chaplain came to see us, even though it was his day off, and I realised that he was the same chaplain who’d written me that kind note two years previously for our other baby. We both knew that we were going to have a funeral, and that it would be for both boys, and he would be the one to conduct it.

We spent the rest of the day cuddling our boy and taking pictures. But we knew we’d have to leave him with the hospital. We kissed him for the last time and returned home.

The Endgame

By now, I hadn’t been sleeping well for weeks. I’d been waking up almost every night between 3am and 5am, tossing and turning, finally getting up to pace round the house, eventually going back to sleep again until the alarm went off at 6.30am and I headed back to work.

I was exhausted, and my memory and concentration were suffering. We wondered over and over what could possibly be causing this. There was nothing we could find in either of our family trees which pointed to cases of congenital mental or physical disabilities. Was it in my environment? Was it mobile phones, wifi, pollution, that piece of soft cheese? What had we done to deserve this nightmare?

A final MRI, carried out at 28wks, showed that the brain's mantle was thinner than it should be at that stage of gestation. This, we were told, was a sign that aside from the ventricles squashing his brain, the brain wasn’t developing properly regardless, and even if they could drain the fluid after he was born, he was going to have brain damage.

Overall, our to-ing and fro-ing went on for 9 weeks before we made a decision. We again decided, extremely reluctantly, to end the pregnancy on the basis that our baby would likely have a very poor quality of life, compounded by the fact that he was probably being afflicted by some sort of genetic condition which would put him at the ‘severe’ end of the disabilities scale.

I knew what was coming. I knew in going down the road I was about to go down I was choosing insanity – a just punishment for taking this abhorrent decision. I was once again given a little pot with a pill inside and a glass of water. I took it. We returned to the hospital two days later and once again I lay down in the ultrasound room. I knew that once the consultant put that needle into my stomach and into my baby that my soul would die with him, and there would be no coming back. We asked the consultant to take one last look at his brain, but the black mass had again grown since we’d seen it last, and there was little brain visible on the screen. He put the needle into my stomach, through to our baby, and put him to sleep forever.

‘I think you should terminate, the brain’s f***ed up’

We went round and round in circles in our thinking. We just didn’t want this to be happening. Perhaps our baby would be ok really? As with our first baby, while my head knew the truth, my heart was not having it. I was now 27 weeks pregnant and we needed a second opinion. So I spoke to a few people about who else, apart from our own consultant, would be good to see. We got a couple of recommendations for the same consultant, a professor with years of experience. We were warned his clinic sometimes overran by 5 hours, but we didn’t care, I just needed another view. Could things really be that grim? As it turned out, instead of seeing him at 4.30pm, we saw him at 9.30pm, so the five-hour overrun warning was correct.  But if we’d hoped for a different view, or even an ounce of sympathy, we were to be sorely disappointed.

He scanned me very briefly and announced, `` I think you should terminate, the brain’s fucked up.’’ Yes, that’s verbatim, I am NOT paraphrasing. To say we were shocked at how he was talking to us was an understatement. We had NOT seen this coming at all. If my jaw hadn’t been on the floor, I would have punched the horrible little *******. In fact I really wish I HAD punched the guy. He continued his consultation with phrases such as ‘when the brain’s this screwed up...’ etc etc. I thought how can you speak about my baby like that?! He may be in a bad way, but he hasn’t done anyone any harm, please be nice to him!!! We paid the bill (yes, we did pay him for his advice), and went out onto the pavement and sobbed into each others’ arms.

Rage, frustration and no-one to blame.

I suppose I am angry that there is no apparent 'culture' of carrying to term a sick baby in the UK. There is no encouragement from the medical establishment to keep a baby with abnormalities. The strength to do that has to come from within yourself , with or without the support and encouragement of your partner and family. But my family didn’t want me to have a life looking after a mentally and physically disabled child, who would turn into a mentally and physically disabled adult. And I felt powerless to keep him regardless of everyone’s views. I know this sounds horribly weak, and it is. I was weak.

It was around this time that the BBC’s Panorama programme was aired which showed adults with mental disabilities being abused by their carers. I couldn’t bring myself to ever watch the program; the headlines in the papers were enough. I didn’t want that fate for our child.

http://www.bbc.co.uk/news/uk-13611089

And there was another story about how a woman killed her own son, who had autism. Reading this, the old me would have thought ‘how can a mother do that do her own child,’ but now I saw it through different eyes. She wasn’t evil, just utterly at the end of ther rope looking after her severely disabled boy. As much as I wanted to romanticise things and think that maybe we’d cope ok, and that ‘god doesn’t give you what you can’t handle’ (I saw that written on lots of the US pro-life sites), the reality of it was that not everyone is able to cope. 

http://www.guardian.co.uk/uk/2011/may/09/mother-killed-autistic-son-trial

Staring down the barrel of a gun

We pretty much had a scan every week from then on. The ventricles did nothing but grow at each and every scan. Even at only the second scan, the week after, the ventricles were now 17mm, in the ‘severe’ zone.  

What had initially been, to our untrained eyes, a couple of barely-noticeable black lines, rapidly turned into a black mass obliterating the brain. Here's a link to a lady who found herself in a similar situation with her baby. Our scans pictures were very similar. http://sociallyinappropriatemom.blogspot.com/2011/10/expectations.html 


An MRI indicated that it was probably caused by acqueductal stenosis, where the tube allowing the drainage of the cerebrospinal fluid is blocked. We were told that once the fluid ran out of space in the head, the skull would start to expand and then his condition would be termed ‘hydrocephalus’.

I didn’t want an amniocentesis. I wanted to keep our baby whatever. But again I caved in and had the amnio. It proved negative, but from our last experience, I knew this was no reassurance.

Within weeks, it got to the stage when they said our baby, again a boy, would be severely disabled. We were told that if we kept him, he would have brain surgery within days or weeks of his birth to have a shunt (a drain) inserted into his head and connected to his abdomen to get rid of the excess fluid. This would not be a temporary drain, but something he’d have for the rest of his life.

We just couldn’t believe it we were in this situation again. We were utterly bewildered. I couldn’t bear the thought of ending a pregnancy again and was furious with myself for having agreed to these tests, because if you don’t know, then there’s nothing to be worried about, and no pressure to do ‘something about it.’

I just kept wondering how on earth could a person go through it again and not end up suicidal or in a psychiatric ward? It felt like we were staring down the barrel of a gun. Why were we going through this? Why are we being persecuted? I am not religious at all, but even I began to ask, ‘what god have we upset?.’

All I knew that I was going to get this baby over 24 weeks whatever. At least that way he would get a birth certificate, proof that he did exist and did matter, and I would qualify for maternity leave, because I thought if I was going to have a nervous breakdown, at least I could have it under the guise of a maternity leave with a year to try to sort myself out mentally.

Coincidence?

I went straight home and googled ‘ventriculomegaly’. Here’s what it said on Wikipedia:

``Ventriculomegaly is a brain condition that occurs when the lateral ventricles become dilated. The most common definition uses a width of the atrium of the lateral ventricle of greater than 10 mm. This occurs in around 1% of pregnancies. When this measurement is between 10 and 15 mm, the ventriculomegaly may be described as mild to moderate. When the measurement is greater than 15mm, the ventriculomegaly may be classified as more severe. Enlargement of the ventricles may occur for a number of reasons, such as loss of brain volume (perhaps due to infection or infarction), or impaired outflow or absorption of cerebrospinal fluid from the ventricles. Often, however, there is no identifiable cause.

Associations

Ventriculomegaly is also known to be associated with other malformations such as agenesis of the corpus callosum, spina bifida, and heart defects. Fetuses with both isolated ventriculomegaly and with other anomalies have an increased risk of having a chromosomal abnormality, including that of Down Syndrome. Many conditions associated with ventriculomegaly can be defined prior to birth, but the possibility remains of other anomalies (either structural, chromosomal or genetic) only being identified later in pregnancy or after birth. Ventriculomegaly associated with abnormal findings and other structural malformations, often has an adverse prognosis, which ranges from disability (often mild) to death. However, in cases of mild isolated ventriculomegaly, there is around a 90% chance of a normal outcome.’’

I read this, and the thing that leapt out at me was that ventriculomegaly is apparently associated with agenesis of the corpus callosum, what our first baby had. But this baby has his corpus callosum, I had asked the ultrasound technician specifically. But what is going on, surely this cannot be a coincidence??

The Scream

From now on, my state of mind can best be described as:

                                               

The Sum of All Fears

At the 21 week scan, the ultrasound technician asked that we see the consultant again. I thought nothing of it as I thought this was a formality, but afterwards my husband said he could tell that the expression on her face had changed.

We moved to the next room where the consultant scanned me again. He told us that the ventricles in the baby’s brain were slightly enlarged (11mm), something known as ventriculomegaly. As long as they didn’t grow any more, most babies were fine. Our hearts dropped off a cliff. I thought this is it, this is going to get worse, we are not getting out of this one. And indeed that is what happened.