THE BLOG

My Son's Smile Belies a Troubled Heart

01/03/2016 09:52 GMT | Updated 01/03/2017 10:12 GMT

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Yesterday was Rare Disease Day. You wouldn't think it affects many people but in fact it does. Up to 30 million people may be affected by one of over 6000 rare diseases. My five year-old son Dexter is one of them.

When you're going to have another baby, you think this time you'll be on top of it. You'll know how to nurse, you won't mind so much waking up at night, you'll know how to comfort - you will have been there. Second scan. It's a boy. 'The King's Choice', people tell you. You've got a girl, and a boy. The perfect nuclear family. It's perfect.

After a year, you expect him to sit. He can hold his head, he can smile, so why does it take him so long to sit? Finally, he sits. One morning, you are making your bed, and bang. The second before, he was sitting, and now he's lying. What happened? A first shiver goes down your spine.

Suddenly, you land in hospitals and development centres. "Hello darling. Wake up, your child cannot walk, your child cannot speak, your child's behavior is abnormal." Bang.

"It's probably genetic." Bang.

Genetic? Have you ever actually thought of anything genetic? That is, apart from the colour of your eyes? You were told you had good genes, young skin, and all - what does that mean to you now, this idea? Your guts are turning, your period's suddenly flooding in, you rush to the loo.

It's now 2 years since Dexter was diagnosed with AS, a rare genetic condition which causes delayed development, language and speech impairment, movement and balance problems, and epileptic seizures.

Children with AS are very smiley. They have something angelic about them, so the name is fitting.

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Every day I see my son create bonds with people on the street, I see people's faces light up, just by his smile. Although his smile belies a troubled heart. It's so easy to believe that everything's okay.

When I'm asked about the syndrome, I advise people to read about Colin Farrell (his son has AS). In his words, I find a helpful mixture of harsh realism and a way forward to transcending the pain of it all. In essence, he says, 'This is f**cking hard, but there is amazing beauty in it all.' I know some people resent hearing all the time that people with additional needs are inspiring - but it's true. To see how hard my son's working everyday to do simple things, like bringing a spoon to his mouth or walking without falling, casts a different light on my little problems.

Then I find out that I am a carrier of the gene which causes the condition.

It's extremely hard to come to terms with this piece of news. It is much harder to share. The first thing people say is, 'I hope you don't feel guilty, it would be silly, it's not your fault'. Well, I do feel guilty. How can you not?

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I look back now and realise some signs were there very early on. His body jerked around in a very tiny way, almost unnoticeable to a stranger's eye, but as a mum I couldn't miss it. It was triggered by loud noises like sirens. I understand now that it was epilepsy.

He was also an eerily calm baby for a long time. At the beginning, it felt lovely. I remember someone saying he was the king of babies because he was so happy all the time. But then you start thinking: 'why is he so happy?' 'Why is he so placid?'

When you read a description of AS on Wikipedia it's very scary. You just want to run away, you do not want to think about the future. I was very scared when I saw pictures of older children with Angelman's.

Your world expands - I saw more people in a year than in my whole life practically, because of my son. It's crazy. I never suspected it could be like that. The amount of paperwork is enormous. You become your child's personal assistant - you become everything - you don't have much left for yourself.

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It's a fight to keep your life going, especially if you have another child without a disability- it's one foot in the disability world and one foot in the typical world. You keep jumping from one to the other. You're exhausted.

Luckily I found Face 2 Face, a free befriending service run by the disability charity Scope, that connects parents with disabled children. Suddenly I could actually talk to someone who understands. It's so important to have someone who reaches out and brings you back from your worries, because you can so easily close, like an oyster, and withdraw. I almost did.

Over the last two years, I have learnt to see by myself 'the beauty of it all'. Everything about my son is different, and I've chosen to stand up and to be proud of his singularity.

Today, I am celebrating everything that is rare and precious about him.

This week the disability charity Scope is raising awareness of rare diseases and conditions on their online community. Join Ceri Hughes from Same but Different to discuss how to raise awareness and change attitudes on rare diseases and impairments.