Do you know what Trisomy 21 is? (by Alison Press)

Written by Guest Writer

February 4, 2021

Almost 13 years ago, I was a couple of days shy of having our first child.  Much longed for and being the grand old age of 39 (in NHS terms an “elderly primigravida”), we were taking no chances and so opted to find out the sex of our longed-for baby so we could plan for the joy of his arrival.   Trivial   purchases of the requisite pale blue bedding, clothing and well pale blue everything paraphernalia were at the forefront of our minds … we were floating in a blissfully unaware bubble.

My pregnancy seemed to develop without drama save for one curious event.    Being considered an “older” mum, I had been encouraged to do a test for “down syndrome”.   A pamphlet foisted into our hands at an early NHS Check Up clearly listed the importance of testing for what was clearly quite a frightening eventuality … having that child that needed to be “tested for” … a baby with “Down Syndrome”.    The night before the next big 12-week scan and realizing that we had not really given more thought to the question of the tests, I sat scanning the pamphlet I had been given in bed next to my husband and realized my understanding of Down Syndrome was a big fat ZERO. 

I had never actually met anyone with Down Syndrome in my life … not even had a relative or friend with Down Syndrome. Where were these other children and adults with Down Syndrome? Who were they and why was their existence such a huge deal that it had to be tested for?  Where was that decree coming from?   Clearly someone omnipotent and all knowing I surmised …  Too exhausted to dwell on it much further, I concluded Down Syndrome must be something that just does not happen to many families and certainly wouldn’t happen to us.    I turned to my husband and muttered “It’s talking here a lot here about Down Syndrome … Why is that? What do you feel about Down Syndrome and what should we do?    “Don’t know”, he shrugged … “not really thought about it” … “Me neither” … I replied… “but” and then … “well … it won’t happen to us will it?” – “if we do have this early scan, apparently it is not definitive so still requires a further test (a CVS or “Chorionic Villus Sample”) to determine better accuracy.  The CVS is through a needle in the stomach so carries risk… I don’t want to chance that … not now”.   “No neither do I, he said”.   I rolled over and fell asleep.

With this thought firmly in our heads, we turned up for the 12-week scan at Kingston Hospital.  Asked about the Nuchal scan, we firmly said “no thank you … we don’t want that”.  A look of disbelief came over the face of the sonographer.  We reiterated that there wasn’t much point in having this test even though it wasn’t invasive as if positive we would not opt for the Chorionic Villus scan as too risky.  This could be our last chance and so we would go with the flow …  This clearly surprised the sonographer so much that she had to ask again “Are you sure?”.  “Yes” we were sure we said.

Jack Frederick Press was born on the 4th of February 2008.    He weighted a hefty 91bs 4 ounces and I find it hard to remember the exact time of birth but know it was evening… it felt like I had fallen into a parallel universe as two days of labour with what was deemed “failure to progress” and an emergency Caesarian had lobbed our carefully planned Birth Plans into the real much messier world.     Jack was born and looked like nothing I had ever imagined he would look like … a squashed, multi coloured and slightly floppy little man, he looked like he had gone 10 rounds in a Heavy weight boxing ring and just pulled through.  As relieved to see me as me him, when put on my chest for the first time surrounded by my husband, consultants and nurses, he touched my face with his pudgy finger and smiled … this was the moment.   It is still the moment now and will always be “the moment” that nothing else mattered.  But it did matter … his smile, my husbands joy, our love … ebbed away as panic and adrenalin began to surge through the operating theatre as his little face turned blue and he was taken away from us.   What’s happening I asked … just a few breathing problems … we were told … please don’t worry … we just need to take him to ICU to run some tests and give him some help.  The last words we heard for some time ….

We were taken into a dark ward filled with new mums and dads all sleeping fitfully with their newborns with them.  Except our newborn was not with us.  We did not know where exactly he was or what was happening but repeatedly asked to know and kept being told … “a consultant will come”.  We waited for what seemed like hours … and hours.  The consultant eventually came …

Mr and Mrs Press … many congratulations … your son has a hole in his heart and needs to be checked at the Royal Brompton tomorrow and oh also … do you know what Trisomy 21 is?  No, we said … Have you heard of Down Syndrome they asked?

Down Syndrome … Down Syndrome … Down Syndrome … the words repeated and repeated.    Yes we had …. Why we asked? Because … they said … there is a chance … tests… more tests need to be run … but yes we feel it could be Down Syndrome.  But don’t worry Mr and Mrs Press … Down Syndrome is not what it used to be … your son can have a good life … please don’t worry … try and sleep.   We slept … we cried … we slept and we filled with a dark fear of what might come.     After the relief of knowing Jack’s heart condition was not fatal the following day, we focused on his homecoming and the subject of Down Syndrome increasingly faded in and out of our minds until we sometimes forgot completely about the diagnosis.

The dark fear stayed though … intense in those early years.   People can be unthinking, unkind without intending to be and it felt sometimes that every day a new judgement was cast upon us (always unrequested) about our tiny son… “why didn’t we have the test” many asked us even when we held our son in our arms …  “did you know?” they asked?  “Is there a scale?” “Well, he doesn’t really look that “down syndrome” …  Our path such a different one to the other regular new mums and their minor anxieties about breast versus bottle or first milestone deadlines.   But as time rolled on something happened … we realized you Jack Press, well you were just “you”… that same you that reached out to touch my face in the first minute … that same you that smiled as soon as you could at every enquiring stranger … that same you that would never be defined by a medical journal or well- meaning stranger.  You were never Freddie the name we chose for you pre-Down Syndrome … that different boy Freddie … that predictably perfect boy with no edges … no you were JACK … with edges … imperfectly perfect … charismatic, kind, funny, surprising, wily, comedic, knowing, strong, sensitive, kind, pushy, determined, indefatigable, gorgeous …. JACK.  The Jack that when patronized, ignored or looked at in the wrong way will just move on… (as why bother?), the Jack who shoots basketball hoops like he was born to do so … the Jack who doesn’t care what you think or if you are embarrassed when he shouts “nice dress” at a random pretty lady over the road or “Good work mate “at the first builder he sees.   The Jack that every evening will wait for you to finish your supper and clear away the plates … who will take out the recycling and ask his Dad to go for a drive in Lockdown just so they can sing to the top of their voices with no one listening … The Jack who tells everyone in Tesco his mother is 52 and would you like to meet her? The Jack who loves Strictly with a passion … who hates animation but loves old fashioned musicals… the Jack who will never ever forget your name and will always ask you how you are.   The Jack that is our son and turns 13 today ……. our son with Down Syndrome … our son whose Down Syndrome makes him who he is and exactly how he should be … our son who learns in a different way … but so what?? Never ever change our precious boy… perfect as you are in every way and who you are meant to be in every way ….

 Mr and Mrs Press … Do you know what Trisomy 21 is?    Yes …we do … and it is GREAT.

Jack as a baby

Basketball player shaking Jack’s hand!

Jack and his younger sister, Ellaryn

Jack with his mum Alison


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