When Down Syndrome Should Have Been the Least of Our Worries…

Diagnostic Overshadowing: Izzy’s story

A few days after giving birth, I was told my baby girl Isobel had Down syndrome. I thought it was the worst news I could ever receive. Little did I know…

The psychologist said that ever since Isobel had been born, my life had been going unexpectedly in a direction I hadn’t accounted for… that this constant changing of the rules, of the journey I thought I was on had made me feel off kilter.

But I’ve jumped into the middle of our story. This conversation was in March 2019, and Isobel was born sixteen months earlier. At 4:28pm, on 18 October 2017.

Within minutes of Izzy being born, we heard the words “features” and “syndrome”. Within hours we heard, “I’m 99 per cent sure your daughter has Down syndrome.” And within days that 99 per cent became 100.

This is the start of the journey. This is how I ended up writing these words. This is how I ended up speaking to that psychologist sixteen months later.

Finding out Isobel had Down syndrome was certainly difficult. It exposed me. It exposed my ignorance. It stripped me bare of how I viewed myself. I was not the inclusive, tolerant person I thought I was. I was not someone who could love unconditionally. After all, I had a condition to loving my daughter. That she be “normal”, disability-free, and would follow the predetermined and typical path of the child I envisioned I would have.

It took time to enjoy my new baby girl. For the tears to stop. To love her. For the self-pity to fade.

By the time Izzy’s first birthday arrived, I was somewhat comfortable on the new path I was on. I had returned to work. Izzy was in the much-coveted mainstream nursery, and life felt relatively normal.

It was just after Isobel’s first birthday that things shifted gears and that new path veered off in a new direction. It took my legs from under me.

 

At the end of October 2018, I went to the GP with Izzy because of persistent nappy rash, but whilst there, I asked the doctor to check on Izzy’s breathing. I wasn’t comfortable with it.

That was the first time we were admitted to hospital with a respiratory infection. I now refer to the months that followed as the “Winter of Discontent”. We would rack up over fifty days in hospital in the four months that followed. Some admissions were short, just an overnight. Others lasted weeks.

No one tells you when you have a child with Down syndrome that your child might get really ill. That they will be hooked up to oxygen to help them breathe. That you will become familiar with the names and faces of all the doctors and nurses on a particular ward because you have bounced back in and out so many times. That part is left out.

It was exhausting.

I was always on edge. Izzy just could not cope with any cough or cold. I missed life as it had been. I feared the pull of the hospital walls, drawing us back in and making me face how much life had changed and how ill my daughter was.

And I felt I wasn’t doing any part of my life justice. Having to explain to my employer that I would have to miss work again because we were back in hospital with a poorly child. Missing my elder daughter, Tilly, terribly. It was tough.

And then there was light at the end of the tunnel. We arrived at our local hospital on Wednesday, 6 March 2019, for surgery to correct a heart condition that we had known about since Izzy was four days old.

Open heart surgery would patch the three holes in Izzy’s heart and repair the valve. It was the great white hope. And whilst it was terrifying, it was exciting. That surgery was going to improve Izzy’s health. It would lead us back to normality and allow us to function outside of the walls of the hospital and get on with family life without the ever-present threat of illness.

This was going to change everything for the better.

When I write those words now, I am floored by my own naivety and trust in the system.

The surgery went ahead as planned on Thursday, 7 March 2019. It went well, really well. Izzy required a temporary pacemaker to support her post-op, but that aside she was smashing it. She made it out of PICU and onto the cardiac ward less than forty-eight hours after her surgery was completed. It was Saturday, 9 March 2019.

That evening, things began to change. Izzy was unsettled, she was knocking her head on the bars of the cot, and so a nurse and I padded it with pillows to prevent her hurting herself. As the nurse walked away and I picked up my phone to give my husband, Stuart, an update, I heard this strange noise. I looked into the cot, and the first thing I noticed was Izzy’s funny colour, and her eyes were wide with panic. I looked at Isobel’s monitor, and the heartbeat line was flatlined… her heart rate number was plummeting towards zero… I shouted for help.

The nurse appeared in front of me on the other side of the cot and began performing chest compressions… Izzy’s numbers on the monitor returned to normal, her colour improved, and the nurse sat her up. I kissed her head. I looked around and noticed for the first time how many people were surrounding her bed. One of the new faces picked up a lead. It was the lead to the temporary pacemaker, and it was not where it should have been. The lead was quickly put back in place. I backed away from the bed until I was stopped by the wall… and then I cried.

In all my life, I have never been so frightened. To see your child panicking for their very breath. To watch them flatline and to have it cross your mind that they will die is horrendous. In the post-incident discussions, it was concluded that Izzy had kicked the lead out of the temporary pacing box. At that point, I recalled thinking that was the worst thing I’d ever experienced in my life.

But there was more to come.

The following day, day five of our hospital stay, I headed home and had some time with Tilly. Isobel was still unsettled, and her temperature required monitoring, but the nurses and doctors were keeping an eye on her, treating Izzy as she was experiencing post-operative pain. Her dad was there with her. There was absolutely no reason to worry…

Late the next morning, Stuart called. Izzy’s temperature was 40.5 degrees. Blood work had been taken to check for infection.

A couple of hours later, Stuart called again. There was a shift in the tone of his voice. Izzy’s temperature was now 42.8 degrees, and she was struggling to breathe. They were rushing her into PICU. I needed to get to the hospital straight away.

It’s hard to rush to hospital when you have a six-year-old who you do not want to panic with you. Tilly was expecting to see her baby sister that afternoon and for Daddy to be home with her that evening. I discreetly called my mum and asked her to once again step into the breach and have Tilly overnight. I had to literally manhandle a distressed Tilly into the car and head to my mum’s. Tilly screamed all the way to my mum’s house. She did not want me to go; she did not want her baby sister to be in hospital. She wrapped herself around me and refused to let me leave; she kept repeating how she wanted us all to be back together at home. It was heart breaking. Despite the fact I knew I had to get to the hospital… fast, I also knew I could not walk away. Between me and my mum, we managed to calm Tilly slightly, and then I made my escape.

I drove the few miles to the hospital way too fast. My progress was impeded by the occasional red light, and it seemed like every learner driver was on my route. I am not a suspicious person but whilst waiting behind one car loudly displaying its L-plates, a black cat crossed the road in front of the car. I thought this meant Izzy would be dead when I reached the hospital.

She wasn’t dead, but she was incredibly ill. The PICU doctor explained that Izzy had a very high temperature, her breathing was erratic, and she was back on the ventilator. It’s strange how the same four walls, the same machines, can feel so incredibly different to how they had four days earlier. Post heart surgery, there was an element of control. We had known what to expect – it was planned. This time there was a sense of panic; Izzy was very poorly. All I could see were the tubes and wires. They had wrapped her in a cooling jacket, and this was bringing her temperature down. She looked so small, so vulnerable.

The doctor said they did not really know what had happened. He said,

“Earlier today, Isobel was ahead of us, and we were racing to catch up. Now we are ahead of her, and we are slowing her down.”

We knew Izzy was in the right place.

 

In the days that followed we became obsessed with a new set of numbers… gone was the era of the SATs (so important during the many respiratory infections), and the epoch of the temperature and BPM reigned supreme.

On day nine, Izzy was taken off the ventilator, and we waited for her to wake up. Following her heart surgery, she could focus on us and was sitting up within twelve hours. However, things were different this time. Izzy was lying down and was quite floppy; she appeared to not have the strength to sit up and she could barely move her arms and legs. Her eyes were crossed, looking up at the ceiling.

Day ten arrived and, as usual, Stuart and I were straining our ears to hear the doctors during their PICU rounds. That’s when we heard a new word enter the vocabulary of the discussion… neurology. When they spoke to us they said Izzy’s current state could be a normal reaction to coming out of sedation. They would “keep the neurology concerns in the background if things didn’t improve”.

And there it was… the seed was planted. That seed grew into an almighty tree of concern by the end of the day… with each passing hour that Izzy didn’t respond properly, the branches of that tree tangled around me and my sense of panic waged war inside of me. I was imagining the worst, the worst being that Izzy had suffered some sort of brain damage.

Izzy began to have unusual “episodes”. She became very stiff, her back would arch, and her beautiful face would crumple into a twisted knot of pain. This was accompanied by a cry so horrendous I thought my heart would break for her. After the fourth such episode, a neurologist appeared out of nowhere and clapped in Izzy’s face… I was tottering on the edge, and this exercise (to see her reaction to stimulus) reduced me to a mess of snot and tears. What was happening to my baby?

An EEG showed no sign of seizures. The neurologist reviewed Izzy’s notes. The conclusion was that what we were seeing was typical of a child who had had lots of sedation and morphine and was effectively in withdrawal. Our minds were at ease… well, sort of. After all, who wants their child to be going through withdrawal. But at least withdrawal would pass… right?

On day eleven, the “episodes” were increasing in frequency. Every couple of minutes, Izzy would ball her fists, straighten her arms, roll her eyes back and then her rate of breathing would increase. A CT scan was required to find out what was going on. The team needed Izzy still for this to happen, so she was reintubated and put back on the ventilator.

The doctor approached us with the results. The CT scan showed evidence that Isobel’s brain had been starved of oxygen. There was a brain injury, brain damage. They didn’t know when this happened, and they didn’t know the extent of the damage.

Stuart and I cried… the nurses pulled the long blue curtains around Izzy’s bay. When you are in PICU, you see that happening, and it either means personal treatment for the patient or privacy for a family who have experienced bad news… you never want to be the latter… but here we were. Stuart informs me that my legs gave way beneath me. I was crouched on the floor, gripping the bars of the cot and emitting a sound I don’t think I have ever made… crying, groaning… Stuart and a nurse got me to a seat, and the nurse talked to me.

“You don’t know what this is yet. You don’t know how this will look. Children’s brains are very good at rewiring themselves.”

I needed fresh air. What do you do when you have been told your child has a brain injury? That there is brain damage… you walk, even though it is raining, you cry, even though you thought you had no more tears, you smoke, even though you shouldn’t, and you throw up (in a bush opposite the car park entrance).

What goes through your head when you are told that your child has brain damage? You see one of the last pictures you can remember taking of her before surgery, as clear as day… she is beaming into the camera wearing the blue-and-yellow crown knitted for her by a friend’s mum.

And you already miss that smile because you think you won’t ever see it again. And you curse yourself. Because you wasted far too long worrying about Down syndrome and not enjoying her. Because you allowed yourself to indulge in “woe is me” instead of appreciating every day you had… because you believe, in that moment, that you won’t get back the little girl you have come to adore and love…

Day eleven of our hospital stay became day twelve, then day twenty. It was on day twenty-one that I spoke to the psychologist and let out sixteen months’ worth of anger and frustration. I raged against Down syndrome, and I was devastated for a little girl who didn’t ask for any of this drama. She just wanted to be loved.

We left hospital on day eighty-five. Izzy had been diagnosed as having had a stroke in the occipital lobe of her brain, the area responsible for visual processing. The “episodes” became known to us as a neurological condition called dystonia. And later we would learn Izzy had had a global hypoxic incident.

In the eighty-five days we spent in hospital with Izzy, we witnessed our child endure unimaginable pain; dystonia is a very painful condition. We saw her very character stripped from her; she did not smile for a long time. We grieved the loss of all the ability she had before that fatal day when she became so poorly.

It’s been two and a half years since we walked out of hospital and back to a life that was barely recognisable from the one we had had three months earlier. Izzy’s brain damage has had a profound impact on every aspect of her physically. She is yet to regain the skills she had previously. But every day I am grateful my daughter is still with us. And every day I balance the hope of her recovery with the reality of what the future might hold.

 

There are still many unknowns, and I know the path I am on may change again, but I hope that if it does, I can navigate it at a slower rate, probably dictated by Isobel’s own pace.

By Sarah Mayes, UK, mum of 2, blogger at Feeling Upside Down

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