When Down syndrome is what nearly got my son killed but ironically ended up saving his life…

 In Diagnostic Overshadowing, The DS Advocate

Medical professionals, we do love you, but please don’t be blinkered by Down syndrome when assessing our children!

I’m not saying you shouldn’t take it into account, of course not, but see it where it belongs and that’s in the background. I know. My 4-year old son was on the brink of death because of blinkers. And he’s not the only one. Please listen to us!

We see it time and time again, Down syndrome being the designated culprit of a symptom or of an unexpected outcome.

It is a concern that needs highlighting both for medical professionals and parents. Medical professionals, so they remain more vigilant and unbiased in their assessments and listen more to parents’ “gut feelings”. Parents, so they are more empowered, less intimidated, so they dare question doctors’ solutions when their gut feelings scream at them that something doesn’t tally up.

Evan’s case, although extreme, I grant you that, is the perfect illustration of how wrong things can get, how fast they can escalate and how even faster they can deteriorate  when an extra chromosome is thought to be the sole explanation.

Let me give you the full picture, let me tell you about that extraordinary medical ride our whole family wish they had never been on.

There are days when, no matter how hard I try not to, my brain gets sucked into the claws of that very unpleasant time of my life and plays it on a loop, and I can’t find the stop button. It’s been described as PTSD episodes, triggered and accentuated by our current way of life in lockdown.

It all started at the end of November 2018. Evan was 4y 1/2. He went into hospital to have his adenoids and tonsils removed, which meant he was off school for 3 weeks. Everything went well.

In January 2019, he went back in for a scheduled heart operation: a vascular ring around his oesophagus was causing him all sorts of issues such as respiratory problems, recurrent chest infections, aspirating episodes, etc. He was in for 11 days and off school for 4 weeks. Unfortunately, the operation itself was not a success as the damage to the oesophagus was greater than anticipated. Whether Evan will still have to undergo surgery to remedy this is under investigation.

Comes the fateful day: April 14th, 2019. Evan’s skin was motley and he had a high temperature that wouldn’t come down with Calpol. Not wanting to take any risks, I took him straight to the hospital where he has open access due to his heart issues. It looked like a nasty viral infection so they decided to keep him. The blood tests showed he also had a bacterial infection but they couldn’t tell where. And then, it all started going downhill over the next 4 days. An X-ray revealed a chest infection, so naturally they gave him antibiotics but there was no improvement, he was actually getting worse so they tried another, and another…

And here is where the pivotal mistake was made, pivotal because everything that went down from then on cascaded from it, where a lack of action created a life-long butterfly effect: a consultant told us

THE ANTIBIOTICS ARE TAKING LONGER TO WORK BECAUSE EVAN HAS DOWN SYNDROME.”

He was in fact…DYING.

My husband demanded they do something, NOW! They weren’t concerned at all but obliged and agreed to call a consultant from another hospital for advice. Lo and behold, when the consultant on the other end of the phone was given all he details, he sent for a retrieval team immediately. What a difference! They set to work straight away. He needed to be blue-lighted to the other hospital, but not until they could perform intensive physiotherapy on him, put him in an induced coma,  intubated him and  fitted him with a NG tube.

They told us he would have died within the next hour had they not intervened.

 

I still get the shakes when I remember the ambulance passing me by, siren full blast, with my 4-year-old son in it, in a coma, fighting for his life, his dad by his side. The trip seemed to take forever. How I was able to drive, I have no idea, I guess I was on auto-pilot while my brain was trying hard not to lose the plot. I had another 3 sons to think about. I needed to sort out logistics of some sort so we could focus entirely on Evan. We we were right in the middle of Easter break. We don’t have relatives who can help out so Owen, my 20-year-old son, ended up taking 2 weeks off from work so he could look after his 2 brothers: Sam, 11y, and Olly, non-verbal, 3-year-old with autism. I must have done something right in my life because he stepped up to the plate brilliantly and was thankfully able to work on reduced hours when school resumed until we brought Evan back home 4 weeks later… Don’t really know how we could have coped without him.

We eventually arrived at the hospital. And guess what? It wasn’t because he had Down syndrome that the antibiotics were taking longer to work. NOT AT ALL! Brace yourselves now: turns out he was admitted in their PICU with pneumonia in both lungs, LRTI (lower tract respiratory infection), ARDS (acute respiratory distress syndrome) with significant ventilatory requirement and hypoxia, to such a degree that ECMO (extra corporeal membrane oxygenation) was considered, he had to have a drain in his right side for parapneumonic effusion, he had pneumorax (collapsed lung) as a result, the list goes on…

As the fluid in his lungs had turned really hard, he needed intensive physiotherapy twice a day, during which he was taken off the ventilator each time. Those sessions were brutal. I had no idea how brutal.  I stayed in the room the first time they performed it, not expecting at all what looked like my son being beaten up. I never could put myself through attending another one, I left the room each time. And yet, those sessions were vital.

It took a nightmarish week to finally stabilise him, but they did it! At some point during that week, when he was touch and go, we were told to prepare ourselves for the worst, and I will always be haunted by the words uttered by one of the consultants:

“RIGHT NOW, EVAN’S TOES ARE AT THE EDGE OF A CLIFF”.

Another week went by during which he was steadily weaned off some of the medicines in anticipation of the next stage.

Then came the big day, the day we had been waiting for, the day we thought we could finally relax and go uphill again: they decided it was time to wake him up!

Well, Evan did wake up. We dared let out a tiny sigh of relief that quickly turned in a big sigh of worry: we noticed straight away that he wasn’t moving his left side and his eyes were fixed to the right. We voiced our concerns and he was taken straight away to have a CT-scan  which revealed he had suffered a significant stroke while he was in a coma. We were besides ourselves. After all he had been through, now this? The butterfly effect was still going strong…

The hospital was great in that they immediately put an extensive, daily, long-term physical therapy plan in place, starting that very day.

There’s more: that same day, he started having seizures and Dystonic movements for which he was given more medicine.

He was then taken for MRI scans, MRA scans of the head and neck to assess the damage of the stroke, while still intubated and for which they had to sedate him again.

2 days after waking him up from the coma, they decided to try and take him off the ventilator and check whether he could breathe by himself. This time, we were holding our own. And the little rascal did manage to breathe by himself! What a joy! A short-lived one… That butterfly again…

First, he suffered terrible post extubation stridor and had to be put on strong steroids for 2 days to take the inflammation down (not uncommon when you are taken off a ventilator).

Then, a few days later, as we were waiting to be moved to a ward, I noticed a spot on his head and mentioned it. Yep, you’ve guessed it: Chicken Pox!! So, on top of all his medication, he was given antiviral drugs to try and diminish the symptoms as he had enough on his plate to deal with. Evan being Evan was covered in no time from head to toe, there wasn’t a single space left for another spot! Needless to say, they quickly moved us to an isolated ward.

He was later moved to High Dependency Unit care for a few days, where due to his stroke he had to be monitored every 30mn!

And finally, he was moved to a regular ward where he was monitored “only” every 4 hours.

2 days later he had another MRI scan as there was a fear of another stroke. He went for a 3rd MRI in December to rule out Moya-Moya. The results have only just come in and they are negative. Phew!

They actually wanted Evan to stay for another 6 weeks to make sure he was being monitored properly and given all the right therapies but my husband had already taken 5 weeks off work by now and if he didn’t return to work, we would lose our house. My son also had to go back to work full time. So we made the decision that I would take over all the various therapies at home following a very strict schedule and programme set up by therapists:

Occupational therapy

Physiotherapy

Speech and Language Therapy: Primarily to retrain him on how to swallow again. The left area of his brain that was damaged by the stroke is the one that controls all the muscles in the mouth and throat. He had to be reintroduced to food again, soft melts, purées, things he wouldn’t choke on. It is also interesting to note that a mainstream 4y1/2 would have woken up without speech but as Evan was non-verbal we’ll never know the real impact on that front.

Before we could take him home, I was given training

to manage his NG tube: He needed a certain amount of fluid to keep his brain hydrated. In spite of my best efforts, Evan kept pulling it out and it was agreed it was better to remove it and that we should try and monitor his fluid intake (to this day). He’s never been a great drinker so that’s another daily worry.

to inject him twice a day (for which I had to overcome my phobia of needles!).

We had left the house on April 14th with a 4y 1/2 and a month later we brought home a baby.

It was scary. I had no idea how I was going to manage but I was determined. It seems you just get on with it when there are no other viable options.

I had to treat him like the new-born he used to be, teaching him everything from scratch again, celebrating every milestone a second time, torn between joy and bitterness, and slowly, he went from being able to lift his head, to eat, to walk. To think he was able to jump and ride a bike before that infection! The stroke took a heavy toll on his cognitive abilities too.

He will always have issues with his left arm and leg, and we are considering an operation on that leg to make it easier for him to walk.

A year down the line, we know we’ll permanently have to keep a close eye on him as he is likely to develop epilepsy, very common after a stroke. We’ve been told what to look for and what to do, should it occur. The stress of being constantly on the lookout, wondering if that jerk was normal or simply due to his hemiplegia, worrying you might have missed it, hoping it will never happen…

Not that you can tell by looking at him now, but this 6-year old is pretty much a walking miracle, with a limp, but a walking miracle nevertheless, with an incredible zest for life! 3 operations within a span of 7 months. On the brink of death a few times. How does our little hero keep defying the odds? How does he keep on soldiering on to this day? Well, this final quote might explain it, said to us by another consultant:

“IF EVAN DIDN’T HAVE DOWN SYNDROME, HE WOULDN’T HAVE MADE IT.  THERE’S NO QUESTION DOWN SYNDROME SAVED HIS LIFE. I DON’T KNOW WHAT IT IS ABOUT THIS EXTRA CHROMOSOME BUT IT MAKES INDIVIDUALS WHO HAVE IT A LOT MORE RESILIENT.”

So yes, the irony of it all: his congenital diagnosis nearly had him killed, but it is what saved his life in the end. Go figure!

The thing is, the impact of those 4 weeks in the hospital has left indelible stains in my mind. We were pretty much in a bubble there fighting for his life, and just when we were about to relax our paranoia, thinking he was out of trouble, Covid19 entered the scene with its associates Shielding and Lockdown, forcing us into another kind of bubble, this time to keep him alive. Somehow, it’s triggered PTSD-like episodes that pull me back into that first bubble. The butterfly effect has extended its scope, to me and to all the members of our family. All because of a lack of intervention brought upon by a lack of education, brought upon by text books, brought upon by etc, etc… (a butterfly effect in reverse…).

May it never happen to another family…

OUR FAMILY

You can follow Evan’s Journey here

https://www.facebook.com/profile.php?id=362653834322924&ref=br_rs

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