Tests, Waiting & Shitty Odds.

It was around 8 months after losing Ivy when we received a letter to tell us that unfortunately there was nothing more anyone could do that would tell us what happened to our daughter and why. There were no more tests available and no more DNA left to use. The conclusion was that if we were to get pregnant again, we’d have around a 50/50 chance of having a healthy baby.

Attempting to process that information has been utterly exhausting. This means that if we decide to try again for baby number two, hopefully they’d be absolutely fine, however the information given to us suggested that the odds of having a successful pregnancy could be exactly the same as potentially going through the loss of a baby all over again. There also isn’t any medical intervention available to us that could prevent it from happening.

As I write this entry, I still can’t really get my head around the conversations that have taken place over the last few months. Every medical professional I speak to, talk to me as if it’s all relatively ‘normal’ but for me, it’s so far from that. I continuously ask myself how it’s even possible that we’ve found ourselves in this situation in the first place and how we’ve ended up stuck with this ridiculously difficult ultimatum of what to do next. You honestly couldn’t write it. We’ve entered a world that we never knew existed – a world that revolves around science, the whirlwind of genetic testing and what seems to be, potentially one of the biggest gambles we could possibly ever take.

So this is where I attempt to share with you the long and daunting (yet short lived) journey of us trying to find out why Ivy was so unwell. There’s so much complexity surrounding all the investigations that I cannot possibly write everything down word for word in as much detail as I’d probably like – you’d still be reading this in a fortnight… so I’ll just try and explain everything as best as I can, being as brief as possible. I cannot promise any of this will make sense, mainly because most days I sit here thinking about it and it doesn’t make much sense to me either. Nor do I think it ever will…

All I’ll say is that the process of attempting to find out what went wrong has been frustratingly draining and honestly, we are no further forward with a confirmed explanation. Yes, I’d love to say what you may be thinking – that if they haven’t found an explanation yet, maybe there isn’t one to find? I somehow wish it was that easy… but I’ve spoken to far too many experts in the field who keep telling me the same thing over and over – that unfortunately it could all just happen again.

Are they all wrong? Who knows…

Just please take note that the situation we find ourselves in is ridiculously rare. Never read this and think just because it happened to us means that it’ll happen to you. I don’t want anyone to ever read this and spend any pregnancy in panic mode because you read a story on the internet which didn’t quite work out. The chance of this happening to you is ridiculously low – we just seem to be in that very small shitty percentage of people who get the arse side of life handed to them sometimes.

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After we were told about Ivy being so unwell, we met with a Genetic Counsellor. When you lose a baby due to a medical reason, especially so late on and so severely, you are offered a full post mortem which will more than likely include some elements of genetic testing – depending on what they think may have happened and the suspected condition. It is entirely up to you if you want to pursue this, you don’t have to, but we did because we wanted to know what happened, why it happened and whether it could ever happen again.

On the face of it, there was no obvious reason as to why we lost our baby. Nothing happened during my pregnancy that would have caused a concern and neither of us had any health problems. I’d been lucky enough that I’d never experienced fertility issues before so it all seemed really bizarre. Because of all this, it seemed obvious to professionals that there must have been something underlying that went seriously wrong.

If you ask me whether Ivy has been diagnosed with a specific illness, my answer would quite simply be ‘no not yet’.

This is the medical stuff we know so far…

Ivy’s stillborn certificate details her cause of death as Fetal Akinesia Sequence which isn’t a specific diagnosis… it’s a condition characterised by decreased movement. At some point during my pregnancy, a condition developed for whatever reason that stopped her from moving. This meant she developed severe joint contractures giving her a life limiting prognosis. They refer to these multiple joint contractures as arthrogryposis.

Arthrogryposis is an umbrella term for development issues with bones and joints and research shows there are several reasons why this can develop. If you suffer from this condition, it can vary massively. You might have club foot, overlapping toes or been born with hip dysplasia – all of which you can rectify quite easily if you needed to. But in more severe cases, it could limit your ability to walk or use your arms correctly… or like Ivy, it can become life threatening. Sometimes you might need medical intervention to help you but other times you could have something that doesn’t cause any issues and would never impact your day to day life. In fact, it seems you could have a variation of this condition and never actually know about it.

They say there are three main reasons as to why a baby may develop a type of arthrogryposis…

1) Something happened during pregnancy that impacted the development of baby but these things are classed as ‘one offs’ and have no specific underlying reason. An example of this could be hip dysplasia – if a baby has been in breech for a long time during pregnancy, it could just happen. There is absolutely no genetic reason why, it just does.

2) There could have been a genetic change which happened when sperm met egg. There is also no specific explanation as to why this faulty gene developed – this is when they would refer to the situation as a ‘fluke’.

But the final reason…

3) Baby could inherit a genetic condition from one or both parents. You may have heard of this before, especially with conditions such as Cystic Fibrosis, where the child is unwell due to both parents being carriers of a faulty gene despite it never actually impacting them personally. To be honest, it seems that sometimes people can be carriers of something and you’d never actually know about it until you experience issues when starting a family together. And thankfully, as I mentioned before, these situations are uncommon.

When me and James made the decision to start trying for a baby, the thought of genetics never even entered our minds because we’re both fine. Like many other families, there has been unexplained baby loss somewhere along the extended family tree but there was never a reason to suspect this was anything other than a ridiculously sad and unfortunate circumstance – and to this day, these things are unlikely to link to us.

The first Genetic Counsellor we met pretty much suspected Ivy’s condition was genetic straight away mainly because of how severe she was. Apparently in such cases, there is usually more of an underlying reason why something like that happened. It was very unlikely to be environmental as my pregnancy was pretty average. I remember the first question we were asked was ‘are you and James related at all?’ and I awkwardly laughed because I genuinely thought they were joking. This was actually a really serious question – and no, to my knowledge, we are not. We were asked to provide details of our family tree and draw them out, going into detail about anything that could potentially provide a link to this condition that would give the medical professionals some kind of starting point to investigate.

Let’s be honest, I think most people have their own quirks in some way. Who can actually say they are perfectly formed with no lumps, bumps or problems they’ve had to deal with growing up? Like everyone else, me and James both have our own weird and wonderful things. James has slightly shorter tendons in his hands and I’ve always been classed as hyper mobile because I can bend, crack and fold. Neither of these things ever impacted us growing up or limited us in any way, which is why we never even thought twice about them. To us, these quirks were no different to the fact I can roll my tongue in a funny way and James can eat like a pig and never put on weight. However, our Genetic Counsellor clung onto the potential theory that actually, both of these things COULD be classed as very very mild cases of arthrogryposis and thus explain why Ivy had something similar. Apparently there are cases where parents can have something ridiculously mild but pass it on severely. Apparently this situation was far too rare to just be a fluke – there had to be an underlying explanation.

To keep things simple – if both parents carry the same faulty gene they summarise that you have a 25% chance of passing this on to your baby – the remaining 75% is split between a 50% chance that your baby becomes a carrier like the parents or a 25% chance baby doesn’t inherit anything at all and is absolutely fine. If only one parent carries the faulty gene, it becomes 50/50. So the priority was attempting to find out what gene may have caused the problem and where it may have come from.

If you can identify the gene, there are more options available to you. You can have a special type of IVF which tests everything first so you only ever implant healthy embryos… or you can try naturally and they can test baby during your pregnancy at around 12-14 weeks to see whether they’ve inherited it or not. But to complicate our situation even further… this is a potential condition that varies a massive amount. Ivy seemed to be the extremely severe end of the scale but other babies could inherit something and be absolutely fine. This meant that in our circumstance, even if you could test for the gene early on to see if baby had it, it didn’t make that much of a difference and you may only understand the severity as you get into the second or even third trimester. The only perk of being able to test for the gene would mean you’d either be able to continue with your pregnancy knowing nothing is going to develop, or you’d know they are impacted but be constantly on the lookout for something to catch it as early as possible.

My first question was always, okay so if we potentially carry something, wouldn’t it have been passed down by our parents? Why would our siblings, aunts, uncles, cousins all be fine? But to add even more complexity, there are occasions that you could be the first ‘genetic fluke’ and then start passing things down to your children. Crackin’.

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So this is where all the testing began…

To be clear, I am being pretty negative about the testing process – mainly because I wanted answers straight away and I wasn’t getting any. This wasn’t their fault. They were doing everything they could to help us within the realms of what they had the ability to do. This is just my point of view as a patient about how frustrating the whole situation was.

I was ready to be a Mum. I was a Mum, I just didn’t have our baby at home. All I could think about was that I wanted my house to be filled with the love of a newborn. I was ready to take that break from work and focus on my family life. I was so unbelievably ready for that next chapter and I wanted it so badly. However, when you’re immediately told there is potentially a 50/50 chance of the same thing happening again, not only did it terrify me, but it felt like my whole life had been completely ripped apart. Everything was so unknown and losing Ivy was so raw. In reality, of course we were not ready to dive back in and try again for another baby, but we both wanted to know that one day we could. The decision to hold off on the idea of a family was a ridiculously difficult one, but at the same time an easy one to make. We wanted to know what our future potentially looked like and have as much information and support as possible.

Using Ivy’s DNA, the first test was to screen for common trisomies via a chromosome microarray. This looks at the quantity of genetic material to make sure the right amount had been transferred. It was frustrating because our Genetic Counsellor told us that this test is unlikely to provide a diagnosis but it was standard practice to complete first. It would take around 8-12 weeks and no further tests could be done in the meantime. We just had to wait.

I remember sitting there reading the letters they sent me and thinking, if a test is unlikely to give answers, why bother? What an unnecessary waste of time. I wanted to know as much as I could as soon as possible and 8-12 weeks felt like a lifetime. I was glued to my phone every hour of every day waiting for a call. It completely consumed me.

It was around 8 weeks later when I received the letter to tell me that as expected, the results were normal so they’d need to send off for further tests. They now wanted to look directly at several genes that were linked to the inherited type of arthrogryposis. However it also said that they could only look at the genes they actually knew about and apparently there are genes out there that can cause this condition but scientists don’t know enough about them to include them. Great.

I’m not really sure how long I thought these things would take, but you can probably imagine the lump in my throat when I read that this test takes around 4-5 months.

Now if you want a snippet of how confusing, frustrated and exhausted I became, this is what the letter said…

‘There are three possible results of this test. Firstly, the test may find a genetic change that provides an explanation. Secondly, the test may find a genetic change for which the laboratory is unsure of the significance. This happens as sometimes we can struggle to tell the difference between normal genetic variation and a genetic fault. Thirdly, the test may be negative but this result would not exclude an underlying genetic condition.’

What?

So basically, it might tell us what’s wrong, it might tell us what’s wrong but we can’t trust that it’s actually telling us what’s wrong or it could say nothing is wrong but something actually is wrong? Fantastic.

Very long story short, this test didn’t flag up anything and I received the call to tell me that despite not providing any answers, it was still suspected that Ivy had an underlying genetic condition – they just needed to keep going until they found out what it was.

Onto test number 3…

This is when we started to get into the more serious stuff – a test that could look at around 6,000 different genes to see if anything flagged as a concern. The scary part of this test was that due to the amount of genes they were looking at, there have been occasions they’ve found something they weren’t looking for but could still impact you. An example being they could find a cancer gene you knew nothing about which could mean you become ill in the future. If they found something, they’d be obliged to tell you about it. I suppose when you start peeling back the layers, you enter unknown territory and in reality, have absolutely no idea what you may find.

This test needed approval by a Departmental Committee and would take 6 MONTHS to see any results.

At this point, life felt very stale. 8 weeks here, 4 months there and now potentially another half year to wait. I lost count of how many times I just kept saying ‘maybe there just isn’t anything to find’ but no matter who I spoke to or how many times I spoke to them, they couldn’t agree with me. An answer was there waiting for us, we just had to find it…

Just over a month later, I hadn’t heard anything. I didn’t know whether the test had been approved or whether that process had even started. Not only that, but the word ‘Coronavirus’ had made an appearance and everyone was getting really unsettled. I started to worry that the strain on the NHS would place everything we were waiting for on hold so I phoned… again and again with no answer until finally someone picked up…

‘Let me just check your file. Ah yes, it was approved but it says they weren’t able to do the test because there isn’t enough DNA left. You’re on my list to write to but we can’t do anything else now. Your Genetic Counsellor is on maternity leave but they’ve added a note to request your file be looked at again mid to late 2020 to see if anything else has changed in the testing world that could mean we test you and your husband instead.’

Are you fucking kidding me?

I’ve spent lots of time with the NHS over the years and they’ve always been amazing. However, on this occasion I’d never felt so let down and disappointed. It might not have been their fault we were in this situation, but that phone conversation was nothing shy of shocking. I was basically just going to receive a letter saying ‘soz, game over’.

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I couldn’t just sit back and think, well that’s that. There was no explanation for our little girl. We’d waited months and months but achieved absolutely nothing. We felt completely abandoned. What did this even mean? I spent so many days sat there thinking this may have just been the Universe telling us to stop looking but I couldn’t shake the niggling feeling that kept telling me Ivy couldn’t just be a ‘fluke’ because no one had ever suggested that was an option. Nothing made sense so I took it upon myself to start reading online, researching tests and contacting private genetic testing companies abroad to see what they could do. I never really understood how you couldn’t test me and James because surly our DNA would flag something up if it was there? In other countries these tests were so readily available but not here in the UK. I didn’t even care about spending thousands, having a healthy baby would be priceless.

The reality was that there were no private avenues we could follow in the UK and to attempt to ship our bloods off to another country was a far too complex task. Our situation was so rare that I didn’t even know how to explain it properly to people. I could have spent a lot of money and been no further forward. I just didn’t understand this scientific world enough to know what needed to be done. I was defeated.

I did manage to find the contact details of a specialist within the NHS at the other end of the country who could complete a type of rapid testing on pregnant women who may have an unknown genetic condition, so I sent her a begging email. I asked for a second opinion, asked what my options were and despite not actually being pregnant, whether I could pay to have this test done instead. She responded, was sympathetic to our situation and spoke to somebody she had a connection with back in Manchester. Within days, another Genetic Counsellor gave me a call.

He was internationally recognised in the genetic field and suggested that from what he’d read in my file and experienced throughout his career, he agreed that he thought Ivy had a genetic condition due to the severity. But whether this would be a fluke or inherited, we were yet to find out. He questioned both of our quirks and said they could link and it would make sense if they did, but very rarely he has seen conditions in a parent and child that could be similar, but actually have no impact on each other whatsoever.

He gave us the following options:

1) As there was very little DNA left of Ivy, in-house tests couldn’t be completed. However, the NHS had been waiting sign-off for full genome testing which had been in the pipeline for the last 12-18 months and should have been authorised to go live for use a year ago but had been delayed for various reason. He said this test becoming available was likely our best option in ever finding out answers because it could look at pretty much everything. He suggested that we keep hold of Ivy’s remaining DNA for when we could use it. The downside was that this test had already been delayed, we were now in lockdown and NHS priorities were elsewhere and it was likely to be delayed a good while longer. It could be well over a year until this option is available to us.

2) If I became pregnant naturally, they would send mine, James’ and Ivy’s DNA across the country to his colleague to complete a whole exome sequencing test. It would map the three of us together to see if any changes flagged up. Unfortunately the option of paying for this test wasn’t there so I would have to be pregnant, but it was rapid response and would only take around 2-3 weeks for results. He did say that he thought it would be very unlikely that this test would give us any answers because it would look at the associated genes we’d already tested. However, it wouldn’t matter if we used up Ivy’s remaining DNA because the sad reality was that if I did become pregnant again and it didn’t work out, not only would we then know it’s highly likely to be genetic, but we’d have another baby’s DNA to use to find out more information.

Absolutely terrifying.

His recommendation was to wait until more testing became available but couldn’t tell us when that would be. He did say if I found myself pregnant again I could take some reassurance that I’d be under very strict monitoring and hopefully any concerns would be found much earlier than 28 weeks – when we lost Ivy. His suggestion however was that as we were now in a global pandemic, maybe it wouldn’t be the right time to take that leap of faith anyway. They didn’t know much about this new virus or how it could impact a pregnancy – let alone know whether the NHS would be available to support me as much as I’d need them, so he said maybe it was worth waiting anyway to see how things evolved. He said he’d request my file again in 6 months and see where we were up to and whether there was any development with this genome test. I knew deep down he wasn’t wrong and did I really want to jump into a pregnancy knowing it could all end again and that the support might not be there to help me? No, probably not.

He wrote to me a few days later summarising his conversation and reminded me that medical professionals still thought this was a genetic condition that has potentially been inherited somehow. Therefore it remained suspected that there was up to a 50% reoccurrence rate in any future pregnancy.

And that was pretty much that.

Katt x

3 thoughts on “Tests, Waiting & Shitty Odds.”

  1. So beautifully worded. You explain so well the complexities you have been through. Hoping COVID moves on quickly then you can get some answers and eventually your well wanted baby xx

    Like

  2. As always Katt I admire your writing skills. You have explained everything so clearly.
    Sending you both so much love. Xxx

    Like

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