Chloe’s story
In late September 2019, my wife and I found out we were expecting our second child. Our daughter Ella (4 at the time) was delighted to find out she was going to be a big sister!
Impatient as ever and spurred on by Ella's need to know whether she was to have a baby sister or brother, we booked a private gender scan at around 16 weeks. Ella was able to be with us for the scan, and when the sonographer told us we were expecting another little girl, Ella could not contain her excitement.
There was however, more news. The sonographer began to tell us she was struggling to find all the bones she expected to see! She was under the impression our baby was missing, or possibly had a very small radius bone in her left arm. Upset and confused, as we left the scan we immediately booked another elsewhere to get a second opinion. The second sonographer confirmed everything the first had told us.
Lianne got in touch with the hospital and explained what had happened. We were booked for an NHS scan to hopefully get some more information. After a thorough scan, during which they checked our baby for any other signs that there could be more to her missing bone, including specifically the heart, we were told it was an isolated abnormality , not related to or caused by anything else. It was difficult to process, but we were happy our baby was healthy and could begin to look forward to her arrival. We were put on an increased scan plan just to monitor her but the remainder of the pregnancy was pretty unremarkable with no other concerns other than due to her missing radius bone, it was possible that she may be missing a digit or two on the hand.
That was until a scan around 34 weeks. By this point I was no longer able to attend with Lianne as we were in the midst of Covid Lockdown. At this scan it was observed that our baby had very little/no growth since the previous scan (around 2 weeks prior), and it was arranged that Lianne would be booked in to be induced 2 days later, 01/05/2020. We made arrangements with work and prepared to welcome Ella’s little sister into the world.
During the induction, things did not go to plan. We were already used to this as Ella’s birth had also not been straightforward. I was only able to attend the hospital once Lianne was in established labour, and this did not happen until early morning the next day. Very quickly after I arrived concerns were being raised about the baby’s heart rate slowing and before we knew it we were being whisked to theatre for an emergency C-section. We were terrified, but all of the operating and nursing team were brilliant and before we knew it we heard her cry out. It felt like an age but eventually they brought her over to us and we were able to hold her and get a few pictures. She was so tiny and delicate looking, born 02/05/2020 at 09:02am and weighing in at 3lb 3oz.
She already had a name that had been agreed with Ella in the weeks prior: Chloe.
We were allowed a short time with her before the nurses explained she would have to be taken to the NICU unit, but it was nothing to worry about and purely because she was premature and that we would be able to go and see her as soon as Lianne was fit to do so. I accompanied Lianne back to her ward, and was allowed an hour or so with her before I had to leave again.
Once Lianne had been checked over and cleared to leave the ward, I was able to meet her at Neonatal and we went through to see Chloe. She looked so peaceful, as we peered under the sheet covering her incubator and saw two little eyes peering back at us.
We were able to see her properly now, her little arm with missing thumb on the left hand. She also had a smaller right ear than her left one, just another of the things that made her individual we thought.
We were told it was likely she would be on the ward a while. She would have to be a minimum of 5lb before they would consider her leaving. It’s hard to remember exactly when, but at some point during our stay we learned that Chloe had been found to have a heart defect - both ASD (atrial septal defect) and VSD (ventricular septal defect). We were also told it was likely she would be tube fed and need oxygen and they were not sure for how long. Although this was partly true, Chloe had very different plans. We began bottle feeding after a week, and having had very little atmospheric oxygen throughout her stay she was able to move to a cot from her incubator after 2 weeks. It was already clear at this point that Chloe was going to be special and that she would make her own path regardless of the obstacles in front of her.
Around 2 and a half weeks after her birth, we received a phone call from the hospital asking us to go in and speak to Chloe’s doctor. Although a little out of the ordinary we didn’t think much of it. When we arrived we were taken to a side room by the doctor and a nurse. As soon as we sat down I knew something was wrong. I can’t remember the exact conversation but I do remember how awfully handled it was. Up until this point, all of the doctors who had come to see Chloe, and especially the Neonatal nurses, had been fantastic. Nothing was ever too much for them and many of them had taken a shine to Chloe.
I think the first thing that was said was something along the lines of: ‘What do you think of the diagnosis for Chloe? You know what this means?’ What diagnosis? We hadn’t been told anything! We asked. It was at this point he told us, trisomy 18 - Edwards Syndrome. We couldn’t take in what we were hearing, he must have it wrong. He continued, initially telling us about the 3 types of trisomy and that Chloe was full trisomy 18 meaning every cell contained the extra chromosome. Then he began to talk about the ‘likely prognosis’, reeling off statistics about survival rates that felt like he’d printed out the NHS fact sheet before entering the room. I’d only heard of trisomy 18 maybe days before. By chance I had read some leaflets about a Charity supporting trisomy diagnoses in the waiting room a couple of doors down from where we sat. Lianne and I sat crying in disbelief, as the doctor and nurse got up before saying we’ll let you have some time to yourselves.
We left the hospital and sat in the car, still crying, and trying to work out what we were supposed to tell Ella. She had been so excited to be a big sister, and the closest she had got so far was video calls from the hospital. After speaking with our parents and having gone back to see Chloe, we decided that we weren’t going to spend a minute longer in hospital than we needed to. We told the nurses we were taking her home as soon as possible. They spoke with the doctors and provisionally planned for us to leave with her a couple of days later - we had no idea of the plan going forward but knew we needed to be at home as a family. By this point Chloe was fully bottle fed and had no oxygen support. She was also steadily gaining weight. All things we were told were unlikely to happen. As planned, a few days later, and having passed the ‘car seat challenge’; we were allowed home. Chloe weighed around 4lbs at this time.
It was amazing to finally be able to properly introduce Ella to Chloe, and she took to being a big sister so brilliantly. She would sit with her positioned on her knees holding hands as she watched television, and constantly fuss over her and make sure Mum and Dad had all the help they could need. Work had been fantastic with me and given the circumstances allowed me to take more time off to be at home with Lianne.
Those first few weeks were filled with a range of emotions. On one hand we were so grateful to be at home and be a family while on the other it felt as though we were always waiting on something dreadful happening. It was so hard to ignore the fact that Chloe seemed to be doing so well, and start to believe that she could be an exception to the rule. Everything we had been told up to this point had been negative, why would we think we could be any different.
As weeks turned to months, 2020 flew by filled with visits from various healthcare teams/ professionals as well as what seemed like weekly visits to the hospital for checks on her heart, eyes, ears and so on. With each appointment it was apparent that that each of the doctors and nurses we saw could not believe the little girl in front of them was the same one written about in the notes on their screens. ‘Are you sure she’s got Edwards?’; we were asked on more than one occasion. ‘She’s doing so well’. It was apparent there was so little expectation of her but Chloe had already decided she wouldn’t follow the template for a baby with Edwards and she was amazing every one that she met along the way. Before we knew it we were celebrating her first birthday, an all too rare milestone for a lot of t18 children as we were well aware. It was a special day but also any milestone we passed was a reminder that it could all change so quickly.
A couple of months prior to Chloe’s first birthday, Lianne and I had also found out we were expecting again. This was an especially difficult period as there was so much uncertainty about what to expect - could it happen to us again. We had opted to have genetic testing after Chloe’s diagnosis but Covid had put a stop to this. When we got in touch with the hospital regarding the new pregnancy we again asked about the genetic testing and it was arranged as a priority. The results came back that neither Lianne nor I had any reason to believe we were at an increased risk. At this time the Geneticists were also keen to do further tests on Chloe including skin biopsies to try and get a better understanding of her particular trisomy as they believed it may come back with different results to what we had previously been told. We declined as we didn’t see the benefit for Chloe or us. Nothing was going to change other than a bit of writing on a piece of paper. Chloe was going to write her own future and the first step was becoming a big sister herself, later finding out we were expecting - yet another! - baby girl. What were we letting ourselves in for!
We once again opted for the combined screening and received a low probability - it should be mentioned that we had been given similarly low risks when pregnant with Chloe.
Chloe continued to grow and learn new skills, as she waited for her baby sister. Learning to walk, initially supported by the sofa or whatever she could get hold of, but by 18 months old she was walking independently if not a little shakily! She was also beginning to learn new words all the time. By this point she was attending nursery a couple of days a week and was hitting all her key milestones albeit sometimes slightly later than others in her setting.
Our third daughter, Millie, was born in November 2021, and although initially very jealous of her, Chloe welcomed her into to the family in much the same fashion as Ella had done with Chloe 18 months earlier, doting on her and making sure she was always looked after. Ella revelled in her new found role as the head of the trio.
Fast forward another year and a bit and here we are, Chloe turns 3 this May and has just been accepted for a pre-school place starting in September at the same primary school Ella attends. It certainly isn’t what we expected life to be like when we were sat in that room at the hospital, but we are thankful every day for how it turned out.
Chloe has learnt so much in her short time, overcoming with ease any difficulties we thought she would face. She has learnt to hold pens and draw, hold cutlery and feed herself, to express and say what she needs and have everyone running round after her.
She has been on 2 family holidays to Majorca, and absolutely loves the water - same goes for bath time! She is the least fussiest baby we’ve ever known when it comes to food, and would eat forever given the chance - although she always prefers it off someone else’s plate.
She loves to play Barbies with her sisters, climb on absolutely everything, and cuddle on the sofa watching a film. She can be grumpy, and does not always share well but she is also so caring and loving, especially with both her sisters. She makes us so proud every single day. Even on the hard days she always manages a smile. She is learning new words all the time, a current favourite being ‘baddy’, whenever Mummy, Daddy, Ella or Millie are being naughty!
There’s still a long road ahead of her, and us, but we know she will steamroll through any barriers put in front of her. She has a tendency to suffer with colds and coughs whenever there is a bug being passed around, but considering we were given an open pass to the children’s ward at our hospital and advised she would be brought in as a priority should it be necessary, she has yet to use it!
We still attend clinics at Alder Hey. She has a specialist team looking at a plan for an operation on her right hand as she has little use of her thumb on that hand due to hypoplasia. Although at this moment in time she has her own way of working things and we are in no immediate rush to proceed. She also has yearly heart check ups, a far cry from the monthly check ups we had at the beginning! Chloe’s VSD has shrunk to an immeasurable point, but the ASD continues to stay relative in size to her heart - the thought is that this will require an operation at some point in the future should it cause any concern.
It is hard for us to give a message to any parents going through a trisomy diagnosis, as our story is not the same as most. Having only found out after Chloe was born, we cannot imagine what people are going through having found out during their pregnancy. For us it was a blessing, as there were no discussions to be had or decisions to make prior to her birth. We just wanted to share her story and show exactly what Edwards Syndrome means for Chloe, and us as a family, and that it does not always necessarily tally up with the statistics. Chloe’s story may be a miracle, but fortunately for us she’s our miracle.