His Trisomy 21 Saved Him When Diagnostic Overshadowing Nearly Killed Him!
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 four-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 an unexpected outcome.
It is a concern that needs highlighting both for medical professionals and parents. Medical professionals, so that they remain vigilant and unbiased in their assessments and listen more to parents’ “gut feelings”. Parents, so that they are more empowered, less intimidated, so that they dare to 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 wishes we 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 Post-traumatic stress disorder (PTSD) episodes, triggered and accentuated by our current way of life in lockdown.
It all started at the end of November 2018. Evan was four and a half years old. He went into hospital to have his adenoids and tonsils removed, which meant he was off school for three weeks. Everything went well.
In January 2019, Evan went back to hospital 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. Evan was in the hospital for eleven days and off school for four weeks. Unfortunately, the operation itself was not a success, as the damage to his oesophagus was greater than anticipated. Whether Evan will still have to undergo surgery to remedy this is under investigation.
Comes the fateful day: April 14 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 the doctors decided to keep him in. The blood tests showed that Evan also had a bacterial infection, but they couldn’t tell where. And then it all started going downhill over the next four days. An X-ray revealed that Evan had a chest infection, so naturally, they gave him antibiotics, but there was no improvement. He was 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 the details, he sent for a retrieval team immediately. What a difference! They set to work straight away. Evan needed to be blue-lighted to the other hospital, but not until they had performed intensive physiotherapy on him. They put Evan in an induced coma, intubated him and fitted him with a nasogastric tube.
They told us Evan 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 four-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 autopilot while my brain was trying hard not to lose the plot. I had another three sons to think about. I needed to sort out logistics of some sort so that we could focus entirely on Evan. We were right in the middle of Easter break. We don’t have relatives who can help out so Owen, my twenty-year-old son, ended up taking two weeks off from work so that he could look after his two brothers: Sam, eleven, and Olly, our non-verbal, three-year-old with autism. I must have done something right in my life because Owen stepped up to the plate brilliantly, and he was thankfully able to work on reduced hours when school resumed, until we brought Evan back home five weeks later.
I don’t really know how we could have coped without him.
We eventually arrived at the hospital. And guess what? It wasn’t because Evan had Down syndrome that the antibiotics were taking longer to work. NOT AT ALL! Brace yourselves now: Turns out he was admitted into their Paediatric Intensive Care Unit with pneumonia in both lungs, Lower Respiratory Tract Infection, Acute Respiratory Distress Syndrome with significant ventilatory requirement and hypoxia to such a degree that Extra Corporeal Membrane Oxygenation (ECMO) was considered. He had to have a chest drain inserted into his right side for parapneumonic effusion, and he had a pneumothorax (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. 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 that it would look like my son was being beaten up. I left the room each time, convinced that I could never put myself through attending another one. And yet, those sessions were vital.
It took a nightmarish week to finally stabilise Evan, 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. 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 Evan 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 to 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 computerized tomography scan (CT scan) which revealed he had suffered a significant stroke while he was in a coma. We were beside ourselves.
After everything that Evan had been through, now this? The butterfly effect was still going strong…
The hospital was great. They immediately put an extensive, daily, long-term physical therapy plan in place, starting that very day.
There’s more — that same day, Evan started having seizures and dystonic movements for which he was given more medicine.
He was then taken for Magnetic Resonance Imaging (MRI) and Magnetic Resonance Angiography scans of his head and neck to assess the damage of the stroke, while still intubated, and for which they had to sedate him again. Two 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 two days to reduce the inflammation (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 chicken pox symptoms as he already 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 isolation 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 thirty minutes!
Finally, Evan was moved to a regular ward where he was monitored “only” every four hours.
Two days later, he had another MRI scan as there was a fear of another stroke. He went for a third MRI in December to rule out Moyamoya disease. The results have only just come in and they are negative. Phew!
The medical specialists wanted Evan to stay for another six weeks to make sure he was being monitored properly and that he was being given all of the necessary therapies, but my husband had already taken five weeks off from work 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:
* Speech and Language Therapy: Primarily to retrain Evan 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 four-and-a-half-year-old would have woken up without speech, but as Evan is non-verbal, we’ll never know the real impact of the stroke on that front. Before we could take Evan home, I was given training to manage his nasogastric tube; he needed to maintain a certain amount of fluid to keep his brain hydrated. Despite my best efforts, Evan kept pulling the tube out, and it was agreed that it would be better to remove it and try to monitor his fluid intake, which we continue 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 14 with a four-and-a-half-year-old, and around 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 Evan like the new-born he used to be, teaching him everything from scratch again. Celebrating every milestone a second time, we were torn between joy and bitterness. Slowly, he went from being able to lift his head, to eating, to walking. To think he was able to jump and ride a bike before that infection! The stroke took a heavy toll on Evan’s 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 have to permanently keep a close eye on Evan as he is likely to develop epilepsy which is 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 is constant, wondering if that sudden 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 six-year-old is pretty much a walking miracle, with a limp, but a walking miracle nevertheless, with an incredible zest for life! Three operations within seven months. On the brink of death a few times. How does our little hero keep defying the odds? How does he keep 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 had nearly had him killed, but it is this that saved his life in the end. Go figure!
The thing is, the impact of those five weeks in hospital has left indelible stains on my mind. We were pretty much in a bubble there fighting for Evan’s life, and just when we were about to relax our paranoia, thinking that he was out of trouble, Covid-19 entered the scene with its associates “Shielding” and “Lockdown”, forcing us into another kind of bubble, this time to keep him alive. Somehow, this has triggered PTSD-like episodes for me that pull me back into that first bubble. The butterfly effect has extended its scope to me and to all the members of my family. All because of a lack of intervention, brought upon by a lack of education, brought upon by textbooks, brought upon by etc., etc., … (the butterfly effect in reverse…).
May it never happen to another family…
Buy our magazines online; subscriptions and single copies available. Start your subscription straight away. We post WORLDWIDE.
‘Making Chromosomes Count‘ magazine is your guide through the Down syndrome community. MCC gives you all the flexibility you want when ordering your magazines. You can either go for a one-year subscription or buy one copy at a time. If you choose a magazine subscription, you’ll even be able to start with the current issue if it’s in stock. A magazine makes a great gift, whether it’s a subscription or just a copy or two of a high quality publication, why not treat your friends and family.
We stock all our magazines and send them out ourselves, directly to you; no delay.
We are always pleased to hear feedback, good or bad, as we keep developing our services. Email – MakingCCNews@gmail.com.
Request your free copy at MCCGrabYours@gmail.com if you are an expectant/expecting/new mum (0-1 year old). 100% of funds collected will go towards the continuation of the printing and distribution of the MCC magazine.