Carina’s story: 'Having the test was not a decision we made lightly'

Carina McNally's third child was diagnosed with Down syndrome when she was 13 weeks pregnant, here is her story. 

We found out that Caoimhe had Down syndrome (DS) around 13 weeks into my pregnancy. Our midwife noticed some excess fluid on a scan and we were told she either had DS, Edwards syndrome or Patyu Syndrome. 

Neither Edwards syndrome or Patyu syndrome are compatible with life so we were praying for a DS diagnosis if she had to have one of them. 

We opted to have the CVS screening test done so as to prepare ourselves for what we were going to have to deal with and also to prepare our children, Daniel and Aisling (who were four and two at the time). Having the test was not a decision we made lightly but, as we knew this was not going to be a straightforward pregnancy, we took the decision that it was best for our family

Initially we were devastated; this sort of thing happened to other people, we had two healthy children and I wasn't in any of the 'at risk' categories. Neither of us knew anyone with DS so we were completely at sea about the whole thing. It wasn't fair and we didn't want it for our baby, for us or for Daniel and Aisling. We slowly got our heads around the diagnosis only to be hit a few weeks later with the news that our baby would need open heart surgery within the first couple of months. It was a very stressful time for us as a couple but, with two little children to look after, life had to go on as normal as possible for them. 

Caoimhe’s birth was the loveliest experience – it was almost as if she knew that we needed to meet her as soon as possible! I had an intense 45 minute labour and, after one minute in the delivery room, she was born. Our little girl started crying almost immediately which, after a very uncertain pregnancy, was the sweetest sound we ever heard.

From the moment we got Caoimhe’s diagnosis we had told close friends and family. Everyone was shocked and devastated for us and her because – like us – they didn’t know much about DS. We all had a certain idea about what DS was but, looking back, knew hardly nothing.

The first few months of Caoimhe’s life were a rollercoaster of emotions like I’d never known before. There was the high of her finally being here and the relief that she had taken that first breath when she was born, but there was so much uncertainty about her heart. There were so many hospital appointments and admissions that we could barely catch our breath. She was born on the 17th of December and spent her first Christmas in Holles Street which was heart-breaking, even though the staff tried to make it as easy as possible. There is nothing as devastating as having to leave your tiny helpless little newborn baby in hospital on her own.

Daniel had just started primary school and Aisling had started playschool a few months before she was born so they were still adjusting to a major change in their own lives when they suddenly had to deal with hospital visits and their parents frequently having to be away.

As a result of her heart issues, Caoimhe was in and out of hospital until she had open heart surgery in May 2015. She was tube fed, which was hard for me to learn how to do and hard to explain to a two-and four-year-old. We relied a lot on family and friends to keep life as normal as possible for them while we tried to get Caoimhe to the right weight for surgery and keep her healthy at the same time.

I can’t even begin to explain what Caoimhe has brought to our family. She is an amazing little girl with a strength and determination that I have never seen before (and diamonds in her eyes, according to her brother!). Daniel and Aisling adore their little sister, as do her grandparents, aunts, uncles, cousins and friends. She has everyone in the palm of her hand with a captivating smile and a great sense of fun! She has completed our little family unit. She brought with her a lot of uncertainty and a fair amount of worry if I’m honest, but that fades whenever she hits a new milestone, overcomes a new challenge, or gives you a cheeky smile and a beautiful hug!

She has taught us that we can handle a lot more than we thought we could. She does things in her own time, when she’s ready. Milestones have to be worked hard to achieve and things that come easy for other children are huge accomplishments for her. She has taught us to appreciate the small things like her first smile and her first magical hug. We have developed a great deal of patience which is needed when raising any child, but particularly one with additional needs. I have also learnt how to fight like a warrior for her; for her services, for her medication, for equipment that she needs, and also for acceptance for her as a person. 

The Down Syndrome Centre has been a lifeline for us. We started in the parent and baby class, Team 21 Tots when she was ten months old and it instantly gave us a sense of belonging. As I said, we knew no one with DS so it was a massive lift when other parents in the centre understood completely what we were going through and there was no judgement. Finally we had found a support network that came with understanding and a wealth of knowledge and experiences. We're all on the same road and we help each other out. Caoimhe now attends SKIP which is a mixture of therapies with the aim of preparing her to thrive in pre-school. She also attends Speech and Language Therapy sessions the centre’s therapist, Claire.

My hopes for Caoimhe’s is that she will achieve her fullest potential, whatever that may be. And, simply, that she will be happy, healthy and accepted. That she will be seen as Caoimhe first before people see the Down syndrome and that people will see what an amazing person she is and how much she is going to bring to the world. 

I’m delighted to be one of the team leaders for The Down Syndrome Centre’s Mini Marathon team. I’ve taken part for the past few years and it’s always a fantastic day out which raises approximately €40k each year for the centre. This year we’d love to raise €50k and we could do it with you on board! To find out about joining our team visit www.downsyndromecentre.ie/mini-marathon-2018/ or contact Aileen on aileen@downsyndromecentre.ie.

Whatever life throws at Caoimhe she will tackle it head on with the support of me, her dad, Daniel, Aisling and all of her family and friends cheering her.