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One in a million

Updated: Feb 19, 2021

My daughter, Lily, was born on November 4th 2019 by emergency c-section. I like to say she was too comfy in there to come out. Although my body had decided it was time, she remained firmly wedged with her legs under my ribs. I still remember the first time my husband and I saw her over the top of the sheets draped across me, it felt like coming home. After they checked her over, I held her for a minute, gazing at this amazing human being I'd grown for 9 months. And then she was whisked away to the neo-natal unit due to issues with her breathing. Lily and I spent six days in the hospital, her mostly in an incubator, me discharging myself as soon as possible from the labour ward, moving into a shared room set up for mums to be close to their newborns. My husband, Luis, visited every day and was the rock that kept me upright and moving forward.. But those six days felt like an eternity and out of everything that would come next, they still feel like the longest days of my life. She started squeaking when sleeping when she was about two weeks old. She honestly sounded like a little mouse. We were worried constantly and in and out of A&E and the children's ward of the hospital over the course of the next four weeks. First they said she had a cold, then she had a floppy larynx (lots of late night Googling for me as I'd never heard of this "super common" issue) and then it was both. At the same time, she started refluxing, bringing up more and more milk after feeds. When we went for our six week check ups in December, the young GP looked completely panicked by her breathing noise, which by now had become louder and happened even when she was awake. He did the usual checks and was worried that she wasn't putting weight on fast enough (that horrible phrase "failure to thrive" was used). So he shipped us off to A&E without even bothering to do my checks. Lily and I spent the next three weeks in hospital. Her floppy larynx was confirmed (something that she would "grow out of" apparently) but she had a bad cold which meant she needed oxygen. They gave her a feeding tube down her nose to try to help with the "failure to thrive". Luis and I had to learn to give her milk (a mix of my expressed breast milk and high energy formula) down this tube in three hourly intervals. After a few weeks of wobbles (blood pressure spikes, difficulty breathing and lots of scans), we went home in early January, having spent Christmas and New Year's Eve in hospital. We were exhausted from the production that was feeding Lily. While Luis went back to work, I spent most of the day tied to either the breast pump or holding a syringe above Lily to let gravity deliver the milk direct to her stomach. Within days, Lily's reflux had worsened and she was now bringing back up every feed almost as soon as it finished. And so, just over a week after being discharged, Lily was back in hospital. She had caught another cold and was working too hard to breath, her whole body moving with the effort of it. Eventually her breathing got so bad they decided to intubate her and in the middle of the night in early February we were transferred to the intensive care unit. That was the first night I had to leave her alone in hospital and I cried myself to sleep. Lily was in hospital for another three months. A routine scan revealed that her bowel wasn't in the right place and, in early March, she had an operation to fix it. Her reflux was so much better after this, although she was still on a feeding tube and needed to gain back the ground she had lost since birth. But the news that brought both relief and devastation came in mid-March. Lily had all her problems because she had something called Pallister-Killian Syndrome (PKS). A rare duplication of her 12th chromosome in some of her cells, which is associated with developmental delays and learning difficulties. It is similar to Down's Syndrome in many ways but much less common. It was a relief to know that all of her problems were connected, but I was devastated. There is nothing that can prepare you for hearing this kind of news, whether you find out whilst still pregnant, when your baby first arrives in the world, or later in life. It is possible that Lily will not be able to live independently, attend school in the way that other children do or have a career or a family of her own. Of course, so much is unknown. PKS is estimated to occur in 1 in 25,000 babies but fewer than 200 cases have been studied and most of these were before genetic testing was sensitive enough to pick up the issue so are the more extreme cases. The extent of many of the difficulties that Lily could potentially face won't be known until she is older. She is already developmentally delayed - at the age of 14 months, she is still unable to sit unsupported for more than a few seconds. We were able to take Lily home from hospital shortly after she turned six months old and, so far, have defied expectations and managed to stay at home, with only regular visits to the GP, health visitor, physio and all her various specialists. Lily's feeding tube came out when she was eight months old and holding her while she greedily guzzles a bottle of milk still brings me so much joy. I am back at work now, but only two days a week. I spend a lot of time on the phone with doctors and other specialists, making sure Lily gets the tests, follow ups and help she needs. It is exhausting but a "lovely Lily smile" can clear it all away, fill me with happiness and make me forget of all the hard work. I'm still processing the implications of having a daughter with a "disability" and have days when I can only see how wonderful and special my daughter is and (fewer) days when I mourn the loss of the life I had planned for her. I love my daughter and try to focus on the things she is achieving, rather than the comparison to how other children are progressing. I try to stay positive and hope for her to have the best life possible, whatever that looks like. In a way, I have lost a child whilst she is still right here. I have lost the life I imagined for both of us. My dreams of holding her hand whilst I walk her to school, of teaching her to read and love books the way I do, of listening to her talk; all those may now never happen. I believe I am still in mourning for those lost dreams. Life is full of surprises, and Luis and I certainly weren’t prepared for Lily’s issues, but we take life day-by-day and try to remain hopeful for her future. Looking back at where we were this time last year makes me proud of what Lily and our family have accomplished. She has made so much progress and I truly believe that I am a better mother and a stronger person because of everything we’ve been through. I have realised that you are stronger than you think and, just when you think you’ve reached your limits, you’ll find a tiny bit more strength to keep going. My GP told me that she believes that babies with issues come to parents who they know are strong enough to help them and I often think of that when I feel like I'm overwhelmed. I wouldn't wish Lily's diagnosis away. It is part of what makes her so special and unique. What I do wish that the challenges she currently faces, and will face in the future, were not there. I think we all want an easy, carefree life for our children and Lily's will be anything but easy. But I can only be grateful that she is here and is loved and is special, not just to me and my family, but because she is one in a million (or twenty five thousand).

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