Health

Tuesday 2 September 2014

'It's time to celebrate these babies for all the wonderful things they can accomplish'

Baby Eloise, with Roisin and their mum Aedin Collins from Galway. Photo: Andrew Downes
Roisin from Galway
Aedin Collins from Galway

As World Down Syndrome Day approaches, Aedin Collins, proud mum to Roisin, challenges how we view the condition

It is a cold, dreary evening in late November and the harsh, Galway rain has just started to pelt the windows of the hospital. I am warm and snug inside, basking in the glow of one who has just given birth to a healthy baby girl. My French mother-in-law looks aghast as she surveys the packed ward. I know she cannot believe that this is the norm for recovering mothers here in Ireland. In France, a private room with state-of-the-art facilities comes as standard. I am in the middle "cubicle" separated from the other new mums by the flimsiest of curtains. The middle one is the narrowest of the makeshift cubicles; there is barely enough room for any visitor to stand beside my bed and my newborn daughter's cot.

I am delighted to be in these cramped quarters. A nurse who has just started her shift comes by to check on me and offer her congratulations. I am thinking of the last time I was in this hospital, on a gloriously sunny St Patrick's Day two years previously, where I am alone with my newborn in a private room and instead of congratulations from the nurses, all I am receiving are mournful condolences when they come through my door and lay eyes on me and my little girl. I didn't ask for a private room but I've been given one anyway, in an effort to come to terms with the news that my daughter has been born with a chromosomal abnormality.

Getting pregnant was not really part of my life-plan but once the initial shock wore off, both my partner and myself were excited nonetheless when we found out we were expecting.

For me, it was an excitement laced with anxiety – what if something went wrong? My only sibling is profoundly deaf so I have experience of the stress and strife living with disability can bring and as such, I was suitably nervous of the chance of something going awry, but at our 20-week scan, everything is proclaimed to be "normal" and I am told to enjoy the rest of the pregnancy.

Except, everything isn't "normal". Moments after Roisin's birth, as I am gazing adoringly at what I believe to be the most perfect features ever seen on a newborn, a paediatrician is delivering the news to myself and my partner that she suspects Roisin has a genetic defect: Down syndrome to be precise.

Through the foggy haze of childbirth, where the greatest physical pain I have ever experienced has melted away into the greatest feeling of love I have ever felt towards another human being, I am racking my brain for any information I have of Down syndrome. Images of people who are shorter than average with distinct facial features – almond-shaped eyes, a flattened nose, pointed chin, float before me.

The theme tune from 'Life Goes On', an American series from the 80s, which focused on the life of Corky, a teenager with Down syndrome begins to circulate in my brain – the Beatles' 'Obla Di Obla Da'.

Flashes of the satirical cartoon 'South Park'. Another memory surfaces – wasn't there someone with Down syndrome who lived in my parents' estate? I used to see him sometimes on the bus into town. He was only in his late twenties, but he looked so much older. Wait, didn't he die really young?

As my shattered synapses try to fire and load some more information about Down syndrome, I realise I have not said anything for quite a while and an older midwife leans over and asks

"Do you understand?"

I brush off her query with a confident (or as much confidence as I muster at 2am after a pain relief-free labour,) "Yes, of course."

But I don't understand and clearly I know nothing of what this means for me, my partner or our newborn baby. I only know from society that it is a bad thing and this is confirmed by the looks on the faces of the midwives and doctors in the room and the way the paediatrician breaks the news.

She must be mistaken. I am only 29. Aren't babies with Down syndrome only born to older mothers? As it transpires, this is just another misconception I have about the condition – as it is a random genetic mutation, it can occur at any age.

While instances are statistically more likely to occur with an older mother, in fact more babies are born with Down syndrome to mothers who are in their 20s than in their 30s because more babies are born to younger women.

My partner thinks maybe they have made a mistake too. This just cannot have happened to us. So we agree not to tell anyone about Roisin until we receive medical confirmation. This can take a few weeks, as a blood sample must be sent to a testing centre in the UK to confirm the presence of the extra chromosome.

First we must undergo a nerve-racking ultrasound on her heart. Some 47pc of children born with Down syndrome have a congenital heart defect.

Thankfully, Roisin is not one of them. She is not feeding well, however, and that coupled with a bout of newborn jaundice means she must spend some time in an incubator with a feeding tube placed through her nose into her stomach. It means we can only hold her for a limited time every day.

I come to the neo-natal unit every four hours to pump breast milk and cuddle my baby. It is a strange sensation to leave the hospital every night without her. We are told she may be here for weeks. She surprises the hospital staff, however, by both acquiring the knack for feeding and shaking off the jaundice much quicker than they expected and six days later, she is released home to us.

In the outside world, as we wait for her test results, we begin to show off our daughter and gratefully accept messages of congratulations from friends and family, the goodwill feelings I believe I wholeheartedly deserve. I have carried her for nine months, gone through the agony of childbirth; I deserve to be able to show off what society dictates to be a perfect child.

Behind closed doors, I begin to do my research. Down syndrome occurs due to a random genetic mutation where an extra copy of the 21st chromosome is created, thus making 47 chromosomes in every cell, instead of the standard 46. Common health issues that arise as a result are congenital heart defects, low muscle tone, impaired cognitive ability and early onset Alzheimer's. It is impossible to know exactly how it will affect a newborn baby, as it affects every person differently. No two instances of the syndrome are the same. Years ago, those born with this condition were hidden from society. No hope existed for them.

Unfortunately right now it seems like every healthcare professional myself and my partner come in contact with is taking this negative stance in regards to the potential of our little girl. Nurses, midwives, doctors, social workers – they all come through the door to check on me and offer their condolences. Not many congratulate me and if they do, it is loaded with pity. I feel dejected, like my child is broken is some indescribable way and in those first few weeks while we wait for confirmation of her diagnosis, I resolve to try and "fix" her. I shower her with kisses and hugs, as if I can somehow love the extra chromosome out of each and every one of her cells, allowing her to lead a normal life.

For I am full of worry and fear for her future. Fear she will not live an independent life, fear she won't be able to understand her French cousins when we visit my partner's family in Brittany, fear that she won't have any friends, or form any lasting relationships in her life. Fear that she will be left sad and alone while her able-bodied peers live happy, exciting, enriching lives.

Then on my 30th birthday, three weeks after Roisin's birth, confirmation of her diagnosis arrives via a phone call from the paediatrician. I am distraught and cancelled any plans I had for the day. This was not a time for celebration of any type. The grief for the loss of my perfect child is overwhelming. I have never given much thought to the phrase heartache before, yet that is exactly how it feels. Right now it's as if someone has plunged a shard of glass deep into my heart. We now had to inform people that our little girl had Down syndrome and every time I say those words aloud, I feel the shard split my heart further in two.

Most respond with shock and sympathy. My partner is a lot more optimistic about the whole thing. He is constantly asking me if Roisin seems bothered by her diagnosis, and of course she doesn't. To her this is "normal", and she ploughs ahead, reaching some milestones such as lifting her head and rolling over ahead of schedule.

Yet still, I cannot see the glass as being half full. Then one day, a dear friend who had recently suffered the devastating loss of miscarriage responded to our news with this:

"I'm not going to say I'm sorry to you, because you have a beautiful, healthy baby girl."

And she was right.

'La La, La How the life goes on. . .'

Over the coming months, I begin to try and change my attitude and enjoy our baby. I begin to think that society may have once again got it wrong and nearly three years later, I realise that the perfect child I longed for has in fact been given to me.

Roisin is a child who is full of smiles and giggles and impromptu hugs that take your breath away with their force. She is polite and charming and lights up every room she enters. To me she is a typical toddler – boisterous, a ball of pure energy with big emotions and living life to the full

She is clever too. She loves to sing, dance, run and jump. Jigsaws are her latest craze and she will sit contentedly at her little red table and chair, completing puzzle after puzzle. Every morning is greeted with a huge smile and every evening bedtime is struggled against for fear she might be missing out on something. I cannot imagine life without her.

Now she is a loving big sister, proudly introducing her "baby" to everyone and giving her plenty of hugs and kisses.

She didn't walk until she was 21 months old and right now, as her peers are full of animated conversations about anything and everything to whoever will listen, we are concentrating on moving from the one-word phase to using two words together. She has about 40 words in English and the accompanying Irish sign language signs; fewer words in French but that will come. Like the way the walking, running and jumping came, all much longer than the "norm" but they came. It is development but on a different scale and not necessarily a bad one.

I'd be lying if I said that I didn't wish things were a little easier sometimes. The list of appointments we have to attend is daunting – physiotherapy, speech and language therapy, occupational therapy, hydrotherapy along with regular paediatric check-ups and blood and thyroid function examinations, but there is a fantastic team at the Early Intervention Centre here in Galway. Add to this the support we have received from our family and friends and the steely determination of our little girl, we feel there is nothing she cannot do.

So if a friend or relative of yours has broken the news to you that their son or daughter has Down syndrome, think twice before you respond with an apology. Be supportive but understand that Down syndrome is not the life sentence it was before. It's time we educate ourselves on the modern day reality of living with Down syndrome. No one fully understands it yet. Scientists, teachers, therapists, parents – we are all on a learning curve that ascends bit by bit, day after day.

And what we are learning is that with early intervention programmes, continued research and support, people with Down syndrome are living longer, fuller lives. They are teachers, models, public speakers, and entrepreneurs. They can continue to reach for the sky if you, me and society let them.

It's time we celebrate these babies for all the wonderful things they can accomplish with a little help from us, not commiserate for the milestones we have wrongly come to believe are outside their reach and remember that good things come to those who wait.

Friday March 21 is World Down Syndrome Day. Aedin's blog is at www.miniandmum.blogspot.ie

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