Mothering an Angel

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Now this is a story all about how,

My life got flipped-turned upside down,

And I’d like to take a minute,

Just sit right there,

I’ll tell you how I became a… mother of an Angel.

So, here’s the story. 

The story I thought I was in was actually rubbed out and is being written all over again. I wrote the story while I was pregnant with Rufus and had pretty much got the final draft of the final chapter finished before I’d even given birth. I’d pictured his first steps, first word, first sentence, which school he and his sister would go to, how they’d play together, how she’d teach him things, how they’d argue, the holidays we’d have together, watching them learn to ride bikes together, hang out, be teenagers together etc etc etc. Everyone told me that having two children just over a year and a half apart in age means only two things: they’ll be really close or they’ll argue constantly. Of course, I’d assumed the best and hoped they’d be really close. Everyone told me how hard it would be initially having them so close together but how it’d pay off in the long run and we’d get all our child-rearing out of the way and have two lovely children who would entertain one another. Of course everyone who looked at my pregnant belly (including myself) only ever believed there was a completely healthy baby inside. Why would I ever believe anything different? How could I look at my perfectly healthy, bright, thriving, incredible daughter and imagine a baby any different to her? I can still remember at the 20 week scan we were told we had a ‘textbook baby’. What is that anyway? Perfect of course. Everything as it should be, where it should be, complete and perfect.

Except it wasn’t. It isn’t. 

Something is missing inside our beautiful baby boy’s body. 

My pregnancy with Rufus was normal, lovely, in fact there were days I forgot I was pregnant! We were thrilled to discover at 20 weeks we had a boy on the way. A girl and boy. We had the complete package. He was born 10 days early and his birth was quick, natural and pretty straightforward. I was in and out of hospital within half a day and back home. He breastfed well for 6 months until it was clear that my attention could never quite be on his feeds for long enough as I had a demanding toddler to keep occupied as well so we switched to formula. He gained weight well even though he was a fairly sicky baby and amazingly never seemed to cry for milk. He never seemed to cry for much come to think of it, just as happy playing on the floor as he was in someone’s arms. 

He slept pretty well for the first 3 months and I prided myself on the fact that my two children had synchronised naps but when he hit 4 months I knew we’d reached a sleep regression… at least that’s what I thought it was. Wakeful for hours at a time, unable to settle himself. Out came the baby books, along came the sleep training and I bored myself with mind numbing conversations with other mums about baby sleep. Yawn. We’ve all been there. We did sleep training 3 times. It didn’t work. Something didn’t click.

Around the 6 month mark we attempted food. As my friends with babies of similar ages were enjoying baby led weaning, preparing pureed food and seeing their babies become more and more keen and more independent in the high chair, Rufus developed a serious aversion to food. He gagged, he thrust his tongue out, he pushed his head as far away from the spoon as physically possible. The boy was having none of it. So we left it for a while and tried again a few months later. Still not keen but the food went in and stayed in. 

Around the 8 month mark there was this tiny, nagging feeling that something just wasn’t right. Rufus was an incredibly happy baby but just didn’t seem to do much. If he was put down on his  back he stayed on his back. If he was put on his tummy he face planted the carpet, cried and stayed on his tummy. If he was put in a sitting position he stayed in a sitting position until he toppled backwards. He just didn’t seem to want to get anywhere or do anything. Whenever I mentioned it to people I was told ‘they all get there in their own time’, ‘every baby is different’, ‘boys are lazy’, ‘enjoy your maternity leave and don’t spend it worrying’. I was being silly, I’d read too many baby books and was doing too much comparing with my daughter. Still I mentioned it to a health visitor who watched him sit up and play with toys and said he was fine and to wait for the 9 month check and he’ll surely have progressed by then. The dreaded 9 month check tick sheet came in the post and my heart sank. I knew straight away that my boy would fail his first life test. He could only just do the most basic things that a 9 month old was expected to do. The majority of the tick sheet just didn’t apply to him. Something wasn’t right. I could hear every bit of advice in my head and tried to tell myself not to worry and that they all ‘get there’. 

The 9 month check came and went and letters began to arrive in the post. First an appointment to see an orthoptist and secondly to see a paediatrician. Things were beginning to get medical now. Maybe Rufus wasn’t playing with toys and eating independently because there was a problem with his vision. Maybe if we got his eyes fixed then everything would fall into place. Hopefully the paediatrician will tell us he’s fine, just a bit behind and will catch up. 

They all do. 

They all get there. 

Boys are lazy. 

Every baby is different. 

But that’s not what the paediatrician said. The paediatrician said words like ‘developmental delay’, ‘diagnosis’, ‘disorder’, ‘syndrome’, ‘blood tests’. The paediatrician said that his squint might have something to do with his lack of hand eye coordination but it didn’t explain why our boy was still and silent. 

What if our boy doesn’t get there?

What if he isn’t just lazy?

What if he’s different? And I mean REALLY different?

Strangely, our appointments with the orthoptist and paediatrician were back to back and they both mentioned how happy, blonde and blue eyed he was. Why would medical people talk about his appearance and demeanour? Like all parents, we lean on Google for answers and Google brought us to an answer that changed our lives instantly. 

When we arrived home from the appointment with the paediatrician, our lives were flipped-turned upside down. We came across a website that described Rufus perfectly. 

Blonde hair, blue eyes, fair skin, squint, flat back of head, jerky movements, developmental delay, no babbling, feeding problems, sleep problems… the list went on and we discovered that this list came under a heading of a rare syndrome. We then began looking at photographs of children who shared this syndrome and for the first time felt as though we were looking at Rufus’s siblings. We watched videos of these children on YouTube and our hearts sank as we realised the future we were looking at for Rufus. We began to grieve for the boy we thought we had and knew his future would be a whole lot more complex and difficult than we had ever imagined. 

Surely this couldn’t be it? Surely we must be wrong. Silly Google leading us to believe all this. So we put that syndrome away in a box in the backs of our heads and waited patiently for his blood tests and results. In theory. We told only close family and friends our suspicions and tried to stay away from Google searching and learning more. The more we read and watched, the more we were convinced. The blood tests came and went and the paediatrician arrived with the results.

We had waited two whole months for the results. I had been signed off work with stress and in the mean time had reached the conclusion that my boy would need me to be 100% focused on him so work could wait a few years. Family comes first. In our heads we had the results already. We were prepared for what the paediatrician was going to say. 

You see, the paediatrician sent off a small sample of our boy’s blood to be looked at by geneticists and they found that something indeed was missing from inside his body. Rufus is missing a small part of the 15th chromosome. It’s the maternal copy that isn’t there. It. Just. Isn’t. There. It got deleted when he was being made. We don’t know why. His brain can’t access the paternal copy either because that got rubbed out. So there’s vital information that our boy doesn’t have. It’s so rare that only approximately 1 in 20,000 children are affected. but it has a name. Angelman Syndrome. 

So that’s the story so far. Never in a million years would I have imagined that story when I thought of myself as a mum, when I became a mum to Betsy and when I was pregnant with Rufus. The story I had imagined was actually a pretty dull one. Easier, but maybe not as colourful. You see, I think the new story is going to be a lot better. The pages might be a bit damp with tear drops but they will be full of little victories, milestones met at the most unexpected times, tales of friendships made with people we would never dream of meeting, cuddles and sloppy kisses from the most loving boy in the whole world, an unbreakable bond with the most protective sister, blessings beyond our wildest dreams and yes all of the things I had dreamed of before. 

There will be a first word. 

There will be first steps. 

We will wait and we will celebrate. 

And we will love him. 

And we will love him. 

And we will love him. 

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8 thoughts on “Mothering an Angel

  1. Dear Dan and Lucy..there are no appropriate words . But we will pray for all of you..daily…and ask that in and through this you will experience the intimacy and comfort of His embrace.. A very special hug to both your darling children. With our love. John and Barbara

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  2. This post was just perfect. It brought back strong memories about our angel Hadley who was diagnosed this September. We are thinking of your family

    Becky

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  3. Hi Lucy, what a lovely post. Brought back so many memories for me. My own gorgeous chap will be 25 on Monday, 18th May. We didn’t have google to find out about angelmans then and were given a bleak prognosis and found further information through horrid medical dictionaries that failed to mention the joy he would bring us all. He’s great. He’s no ‘Angel’ (spent years trying to lose the labels medical professionals and others gave him without giving him another) but he’s who he was alway meant to be, and is a much loved son, brother, grandson, nephew, cousin and friend of many. He did a lot of things we were toId he’d never do when we were given his diagnosis back in 1991. I blog too, about Guy and other things. my blog is called abitmissing.wordpress.com
    Wishing you well and thanks for sharing Rufus with us x

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  4. This was like reading my story with my daughter, Ayla, especially the part about thinking things were OK and then realizing that she wasn’t meeting her milestones. The realization occurred about the same time they did for you, with Rufus. “Every baby develops at its own pace” also brought back memories. That was me, since Ayla has an older brother, I wasn’t going to compare them.

    I have to say that a bright spot is that my daughter has taught me what unconditional love is. I don’t think I have ever experienced it so perfectly as I have with her. She is now 31, will always be my baby and will always be my “Angel”.

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  5. Our guy is 18 years old and we continue to learn from him every minute of every day, and night!!! Your story is beautifully expressed and of course the beginning of many amazing chapters!!! Still get the best and smiles hugs ever

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