My opinion, love Isabel xxx

Dear Doctors,

I know that you have the quality of life debate with many parents and parents-to-be, so I thought it important to let you know what I think on the subject. You see, I know you just see these happy photos of me with my family, enjoying life, going on holidays, but its time you knew the truth and some of the real problems I have in my life.

First of all there’s school. I know it looks like I love my school, and I do, but they close at the weekends and in the holidays. I am NOT happy about that. AND although we have a lot of fun they do make me work hard. They make me work on my standing, my sitting, my balance and stuff – they even make me sign for things like “more” instead of just letting me have it.

And then there’s my brother. Yes I know it looks like he adores me, and I think he does, but when I demand his lego he only gives me the stuff he isn’t playing with. He KNOWS what I really want is the lego models he’s made – what fun I could have bashing them on the table, taking them to bits and exploring all the interesting pieces. But NO, he refuses to let me do that.

But that isn’t the half of it. You see, then there’s my parents. First of all they make me brush my teeth and my hair EVERY day even when I tell them quite clearly that I don’t like it. And, like the other day we were in a cafe and they KNEW I wanted an ice cream but they made me eat my dinner first. And look at tonight. I was happy, just playing in my bath and they said no, its time for bed. They set this ridiculously early bedtime at 7.15 these days when really a girl like me wants to party until at least 11 or 12. And I can’t even do the slightest thing without the whole getting-excited-look-what-Isabels-doing-now-let’s take-ANOTHER-photo malarky. Honestly a girl can’t even go to the LOO in peace.

And then there’s the holidays. Yes, I love them, but really last year I was TOTALLY shortchanged as I only went away for three holidays. Quality of life bah, what IS going on?!

I know you tell some parents that their children will be like vegetables. Honestly, I don’t even LIKE vegetables – which is another thing – they sneak them into my food trying to tell me they are GOOD for me.

So, please, when you are discussing quality of life and all that, make sure my point of view is made loud and clear. As you can see my complaints are TOTALLY different to any other 6 year old, and obviously justify having these long debates about whether to save children like me. Obviously I absolutely know who is boss around here, but I think my mum and dad might be getting a teensy bit frustrated that they keep having to let the medical world know all this stuff, like there’s something special going on.

So if you can just fix that so other people don’t have to fight to let their children live perhaps we can all get together and sort out my ISSUES!!!

In hope always, Isabel 🙂 xx

Ps the photos are just so you know how hard done by I am actually.

What is life all about?

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Ok, so quite a profound question. But how often do we truly think about it? Well, in the last 4 years we have thought about it quite a lot.

Firstly there is the “quality of life” question. We have thought a lot about this, because various medical professionals use it as the basis for making a decision, or suggesting a course of action. Not nowadays, but in the early days, there was definitely a thought that Isabel may not have a good “quality of life”. In the early admissions who can blame a doctor for thinking this, seeing this floppy, poorly child, certainly not seeing the “normal” Isabel in her home situation.

But how do you judge the quality of a life? You might see someone in the street looking miserable, or crying. But it could be that they have just won the lottery and are torn about how to share their winnings. You may hear someone screaming in agony… shortly before they hold their new baby for the first time in a moment of profound joy. So, in that snapshot how do you make a judgment about quality of life that can be deemed anything like accurate? Yet, somehow it is OK for a doctor to see a patient and have that view (even if they don’t share it) without seeing the context of their life. Even if you do know the entirety of someone’s life, its easy to make judgments based on what you think they are missing, especially if thats something that’s really important to you, whether a material possession, an aspect of their health or relationships. We might think “oh, if I couldn’t talk or walk my life would be miserable”, but that’s putting our own take on it, from where we are now.

Isabel doesn’t think like that. She lives in the moment, and enjoys that moment. She knows joy, love and supreme happiness. She has the most beautific smile that illuminates the room. She recognises the important people in her life, and communicates pretty well without ever saying a word. Now that is a real talent.

Before we had Isabel I always felt a strong sense of purpose, that my life had to be of value. But I defined that value about what I did, how I helped people through education, and the values I held. It was all about doing. When I thought about other people’s purpose it was about doing too, whether advancing lives through pioneering research, or generating prosperity, or helping others to overcome their barriers. Now I can see how much Isabel achieves in just being. If that sounds odd, let me sum up some of her achievements:

1. She has been an inspiration to others to keep going, and to stay strong in their own health battles.

2. She has shown that you don’t need to be the biggest, the fastest or the most academic in order to be completely loved. A great lesson for her 8 year old brother and his friends too.

3. She lives in the moment, and has taught us how to live in the moment too. Having such an uncertain future puts the focus on now, this second. If today is good then today is good – lets not value its goodness only in comparison to yesterday or tomorrow.

4. She has pure and uncomplicated love for the important people in her life, particularly her immediate family and close friends.

5. She helps us all to see the miracle in life and in our lives.

Some of these achievements are aspirations for the greatest world philosophers, so don’t tell me my daughter’s life doesn’t have meaning or purpose. And please don’t assume she has a poor quality of life – she probably smiles a lot more each day than most people do in a week.

So, next time you think about someone’s quality of life, maybe the only person who can really answer that is the person themselves or those genuinely speaking on their behalf. IMG_1516

open letter to parents

Our happy little girl

Dear parent, or parent to be,

We guess that if you are reading this it is because you have been told that your baby may have Edward’s syndrome which has been discovered either before or after their birth. If this is the case, our heartfelt empathy goes out to you; just over four years ago that was us and we can still clearly remember just how desperately painful it is to receive such devastating news.

We are writing this, however, not to dwell on the bad parts of this but to let you know about our experience in the hope that this provides some balance and maybe even a little hope.

Just over four years our daughter Isabel was born. It had been a really easy pregnancy for most of the time, with nothing untoward picked up in any scans. There had been a query about whether the baby’s oesophagus was fully formed as Alison had high levels of fluid, but no suspicion of anything else wrong. In many ways we were lucky as we didn’t have any difficult decisions to think about, but it also meant it was a huge shock as Isabel was clearly quite poorly when she was born. As she was small and quite floppy the medical team felt she ought to be tested genetically, but we were not aware until much later what she was being tested for. We were transferred up to the regional neonatal intensive care unit nearly 2 hours away as this is where we needed to go for the surgery she needed.

At three days old we received the dreadful news that she had Edward’s syndrome, and that she would survive for days or weeks at best. We were given the choice about whether to proceed with life saving surgery. We totally loved her even at this early point, and it was clear that she was alert and not in any great pain – she was also breathing without help, and we knew immediately that we had to give this tough little girl every chance to have a life, however short it might be.

Fast forward four years and Isabel is very much enjoying that life, and is a loving, happy, beautiful and loved little girl with a shining personality. She clearly knows and loves her family, and can communicate pretty well all her wishes even though she can’t yet talk. We have learned to focus so much more on what Isabel can do than what she can’t. She is very smiley, and laughs out loud, and has the cheekiest coy look when she knows she is getting your full attention. Her smile lights up her face, and the whole room. She studies everyone carefully with her big blue eyes, and clearly recognises her mummy, daddy and older brother – she views anyone else with suspicion until she gets to know them. She is very definitely a Daddy’s girl, and also adores her big brother, and either of them will cheer her up just by arriving. She is very cuddly, and loves a cuddle most of the time, though will make it clear when she wants to be put down again.

She has 3 bottle feeds a day and 3 meals, all orally fed. She has distinct preferences for sweet food, so we get through a lot of custard, and she will refuse to eat anything of the wrong taste. We tend to mix baby rice/cereal with her food to get her used to lumpy food, which she manages pretty well. She particularly loves ice cream, and you can never get away with eating one in front of her and not giving her some! She drinks from a standard baby beaker but would prefer juice, thank you very much, so don’t think you can sneak any water in!

Isabel has delayed development, but it is delayed not stopped – she is making progress at her own pace. We have started doing a programme organised through the Brainwave centre, which is a series of daily exercises and Isabel is doing really well – she can sit unsupported for a minute or so which gives us great hope that one day she will be able to sit unsupported. She now has good head control, and we do standing exercises with her most days to develop her strength.

We are very lucky in that Isabel doesn’t need any specialist care – if you can look after a 6-12 month old baby then you can look after Isabel. She is generally a good sleeper at night, but is a pickle about going to bed. She usually manages a crafty nap either during the school run or around tea time and that is enough to keep her going until 10pm or later. Once asleep she sleeps soundly and usually has to be woken up in time to have her bottle before the school run – we always say she has a teenage sleep pattern, as she will then have a good nap in the morning.

In many ways we have a normal life punctuated by hospital trips. We both work (Alison part time) thanks to a wonderful childminder and some great friends and family who have stepped in if we need a plan B. We have been away – to Guernsey (several times) and Menorca (every year), as well as to Legoland and to visit friends and relatives, and when Isabel was one and a half we had an amazing and magical holiday in Disneyland Paris. So amazing in fact that we have been again twice!

We are so lucky that Isabel has been in great health for all our holidays – it’s almost as if she knows. We are obviously careful about taking her out if it’s really cold, and we tend to avoid anyone with a known heavy cold, but apart from that try and live our life as normally as possible most of the time.

It’s not been easy or plain sailing. We have had some very scary moments where we thought we might lose her, and there have been times when we see a “normal” child of her age and can’t help feeling a little wistful. We have also had to fight Isabel’s corner at times, and on at least two occasions our actions have saved her life – that’s a huge responsibility. There have been times we have worried about what Isabel will and won’t be able to do as she gets older, and what the future will be like, but there is so much that is unknown that in the end we just keep trucking on taking each day as it comes.

Isabel has brought profound joy and love into our lives, and she has touched so many people in so many ways. She is a delight and a joy to have in our lives, and what we have come to realise is that whilst we don’t know what the future holds, we never really did anyway. Besides, she has done so much more than anyone led us to ever believe that we never say never in our house now.

When we were given Isabel’s diagnosis we were given no hope at all. Nobody told us that a very small number of children do better than expected and live much longer than anyone thought they would. We have found anecdotal stories of children in their teens, and a few who have lived into their twenties and thirties. We know that these are the rare exception, but knowing that just now and then there is a rare exception is a hugely different situation to being given no hope at all.

We hope that this letter provides a small glimmer of hope that enables you to keep going through the dark days. We know that our story doesn’t guarantee how things will work out for anyone else at all, but we also know that you will have been told all the bad things and probably not about stories like Isabel’s.

The other thing that we have discovered is that we are much stronger than we ever thought possible, and we have coped with far more than we would ever believed we could before Isabel came into our lives. This strength wasn’t all there at the start – it has come day by day. If we had known about Isabel before she was born we would probably have thought that we couldn’t cope, and that we wouldn’t want a child with difficulties in our family. Now we can’t imagine not having our lovely girl in our lives with her cheeky grin and knowing eyes.

When we were discharged from the regional NICU the only conversations were about palliative care, and we were given the number of the children’s hospice. We had no idea what the future would hold, and were trying to cling desperately to any tiny bits of hope that we could find. Whilst we were up there we received lots of new baby cards, one of which just happened to have a passage on the back that resonated completely with what we needed to hear. It is a clever argument as to why it is perfectly logical to believe in miracles despite what anyone might say, and it gave us the strength to keep going and to keep hoping for a miracle, and that pretty well feels like what has happened so far.

From The Water Babies by Charles Kingsley

“But there are no such things as water babies”

 How do you know that?

Have you ever been there to see?

And if you had been there to see, and had seen none, that would not prove that there was none…

 And no one has a right to say no water babies exist til they have seen no water babies existing; which is quite a different thing, mind, from not seeing water babies;

And a thing which nobody ever did, or perhaps will ever do.

We wish you every bit of luck and strength for whatever you may have to deal with, and hope that you too have a water baby to love in your life.

From Isabel’s lucky parents,

Alison and Bill

How it all started

Photo0042I had a generally very easy pregnancy. I felt more sick this time, and tired, and everyone was convinced I was carrying a girl, but apart from that pretty much like my first pregnancy four years earlier. I had great scans, which all looked fine, and my early blood test came back as low risk for Downs and for Edwards and Pattaus- I know that they test for both at our local hospital as by a bizarre coincidence I was told I had a higher risk from my results with my son (which turned out to be a false alarm thankfully). As a result however, I had heard of the conditions having googled them (and scared myself silly) 4 years earlier. A routine scan fairly late on showed that my fluid levels were a little high, so they called me back a month later to scan again. When they had increased a bit the consultant was pretty sure there was nothing to worry about, although a blood test had showed that I had antibodies for CMV (a serious virus if you have it when pregnant) so we were a little bit concerned about that. At about 37 weeks with high fluid levels and a baby who was in an unstable lie I was admitted to hospital with a c-section planned for just over 38 weeks if baby didn’t move into the head down position. When Isabel was born by c-section, she was obviously very small, pale and looked quite floppy. They immediately rushed her to the back of the room and discovered that she had oesophageal atresia – her oesophagus hadn’t joined up with her stomach, which was the cause of the high fluid levels. They whisked her away to the neonatal unit in an incubator, having not been able to hold her or even see her properly. It was a pretty rough day, which is not one to re-live in detail, but they planned to send us up to the regional NICU to operate the following day. They identified that she had a tracheal oesophageal fistula (TOF) which could be surgically repaired. They were also really worried that she might have a heart condition that would cause a problem once the duct between her lungs and her heart had closed which could be a few days after birth. They did mention about genetic testing – I remember two consultants saying they were sure she didn’t have Downs, as if that was the worst that it could have been. The next day we were transferred up to the NICU. I was discharged 24 hours after my c-section so I could travel up with Bill (my husband) behind the ambulance. Fortunately my mum and dad had come up to look after our son while I had gone into hospital and stayed with him so that he didn’t need to come up to the neonatal unit which was nearly 2 hours away. At the regional NICU we didn’t have a great experience especially at first. The nursing staff were great, but it was virtually impossible to get a consultant to talk to us – it was like they weren’t at all interested until the genetic testing was done. One surgical registrar talked about her “dysmorphic features” – our beautiful little girl, who even then was bright eyed and interested in the world. On the evening of Friday November 5th, 2010, when Isabel was only 3 days old, we were told the earth shattering news that Isabel had Edward’s syndrome. I can still hear the sound of my own screams. It was surreal in many ways, fireworks going off all round us and never had we felt so disconnected to the world. They explained that it meant she had an extra chromosome, and that she was unlikely to live more than a few days or weeks at best. I was so shocked as having looked it up when we had the scare with our son it didn’t fit with the lovely bright eyed little girl in the next room. We were given the choice about whether to operate or not – a choice which still horrifies me – it was like they were saying she didn’t have a right to have every chance of a life. We had no doubt at all about what the right thing to do was, and fortunately a wonderful surgeon was on that weekend who was really positive. We were so worried about our son too- what was he thinking about it all, his world had been turned upside down. What would we tell him? How would he cope if the worst happened? We told all our family and friends that we had really bad news that Isabel had a serious underlying condition – text is a great thing at times like this as the thought of actually speaking to everyone was just too much. It was hard enough just telling our parents. We didn’t tell most people what the name of her condition was – I think in part because we didn’t want everyone looking it up and finding really grim stories, and I think in part we felt a bit guilty and ashamed that we hadn’t been able to have the “normal” healthy baby that everyone expects when they are expecting a baby. Those emotions don’t seem at all logical now, but that’s the thing with emotions and feelings. Isabel’s operation went really well although of course we were on tenterhooks, and afterwards she was kept on morphine and a ventilator as a standard part of the procedure. Only a few days later, when she was recovering really well, the consultant we had been allocated asked to meet us, and basically told us that if Isabel were to have a problem “it would not be appropriate to resuscitate her”. We were furious about this – no consultation, no attempt to involve us, just his decision that he would withhold treatment. To make it worse, the registrar also at the meeting, sensing that it was not going too well, leant across and said that what our consultant was trying to say was that if anything happened it was “Isabel’s way of telling us that she wanted to die”. Well, we already knew our little fighter was trying to do everything NOT to die – we still cannot believe we were dealt with so insensitively and inappropriately. Suffice to say a strongly worded letter later and by the next day it was all a “misunderstanding” and no more was said on the matter. The consultant remained very dismissive of our attempts to feed Isabel and told us she was unlikely to be able to co-ordinate her sucking and swallowing, and that it would wear her out. Meanwhile the nurses were treating her like any other TOF repair baby, gradually increasing her feeds and encouraging us to feed her by bottle and top up with the nasogastric tube. One even encouraged me to try breastfeeding and Isabel did quite well, but I just don’t think I had the confidence to ride through the difficult learning stage at the start. To be honest, once she really got going with a bottle she just got cross about trying to breastfeed, so I compromised and expressed milk to feed her (no mean feat!). And we were so cross about the consultant’s dismissive treatment of her and us that we were quite determined to feed her, even when it was slow at first. The nurses were also great in getting us to change her nappies, and to give her a bath, and to normalise things as much as possible. When Isabel was 2 weeks old she was well enough to be transferred back to our local hospital, which was such a relief – it had been so hard in many ways to be in the NICU, especially to be so far away from our son. My mum and dad had been brilliant and had looked after him to keep his life as normal as possible, but we missed him awfully, and also felt terribly guilty about being away. Sometimes I look back on it all and wonder how I didn’t end up with post-natal depression, although it did seem like I was on the edge of it at times. It is definitely an area where more could be done to support new parents in neonatal units – our midwife didn’t even ring us, and nobody from the local post natal ward made contact whilst we were away, although our lovely GP did ring to check how we all were and offer his support. We had a bit of a scare on our way back as Isabel had had a de-sat towards the end of her ambulance journey, but the next 2 weeks went pretty smoothly, and suddenly we were at Isabel’s discharge planning meeting. It was such a transition – having had a number of medical staff telling us how she had days or weeks at best, and each with their own version of how she was going to die, suddenly we had a whole posse of people talking about the future like there was one. When we took Isabel home for the first time we were so nervous. We had an apnoea monitor permanently attached to her tummy, and were terrified even about the journey home. We came home on 2nd December, and I remember thinking “please don’t die on Harry’s birthday” (just before Christmas) and “please don’t die at Christmas”. Every day in those early days I was scared it would happen that day.

The girl they said would live for days is 4 years old

IMG_2219Well this is my first entry. I felt the need to share our story with the wider world to hopefully give some hope that things can turn out a lot happier than you think.

When our daughter Isabel was a few days old she was diagnosed with Edward’s syndrome, a rare genetic condition. If you google it you will find grim reading.

She is now 4 years old. Its not all been plain sailing. There have been some scary and some difficult times. She has significantly delayed development, and can’t yet walk or talk. But she is a loved, happy little girl with a feisty character and we wouldn’t be without her.

So, our first message is that the textbooks and the doctors don’t always get it right.

We are hoping to share a bit of our story, mainly to help anyone going through any similar sort of time. And of course to tell another side of her syndrome to the one you will hear from other places.