Carole and her son playing in the bath

What it’s like when your child is diagnosed with a rare disease

Today is Rare Disease Day. You might not think it, but up to 30 million people may be affected by one of over 6000 rare diseases. Carole Villiers’ 5 year-old son Dexter is one of them. Here, she shares the story of his Angelman Syndrome diagnosis and how it changed her family’s life. 

For 40 years, February never had any particular significance for me. No birthday, no special event. But on 10 February two years ago, my world turned upside down.

That day, I have an assignment in London.

When I leave the studio, I switch my phone on. There is a message. It’s an unknown number. It’s raining heavily. If I don’t run to the station, I’m going to miss my train. I race in the rain, listening to the message. It’s my son’s paediatrician. “I will call you back”. That’s all she says.

From that moment, my heart starts pounding. I dash across Victoria Station, catch my train last minute.

Suddenly, it’s quiet. I take a seat in a set of four, next to children chatting. I have a feeling that I need to be protected. I breathe.

I look at the time. It’s 2.48pm. I call the paediatrician. It’s immediate. “He has Angelman Syndrome.

The only thing I can say is “Oh my God”.

I have a silly thought: “Why are you saying that, is that all you can say, really, ‘Oh my God’?”

She asks me where I am. “On a train”. I can hear her guilt, the horror that this has fallen to her, to give me this news. I quickly wonder if she has been trained to do this, if there is a right way?

“Thanks for letting me know”. I hang up.

It will never be the same again

Dexer running himself a bath

Nothing’s changed on the train. But my life has stopped. It will never be the same again. Everything feels white, and diluted. I can feel contractions, almost childbirth contractions, in my stomach. I am giving birth to this new child, the one with a syndrome.

For five minutes, I’m the only one who knows. My child has Angelman Syndrome, AS, and it’s forever. My child won’t talk. What will happen to him when I’m not there? I breathe again. I’m ready to tell my husband. I call him. He picks up. I have to hurt him, I have to tell him this thing about his son. I tell him straight away. As softly as possible. I’m alone, on this train. He’s alone, somewhere in Brighton. Do I cry? I don’t think I do. I’m stunned. The train pulls in the next station, and I’m sitting on it, petrified.

Diagnosis is devastating, but I wonder if waiting to find out what’s wrong is not worse. Something is happening to you that you never thought would happen. You don’t know what it is that’s happening, you’re filled with fear.

It all begins to add up: the fascination with water, the enormous laugh, the flapping arms… every singularity of his behaviour matches the description of this rare genetic condition.

I can feel my heart sink to my shoes as I read about the delayed development, the language and speech impairment, the movement and balance problems, and the epileptic seizures.

I also read that only around 1 in 16,000 people have it. So it’s pretty rare.

“I hope you don’t feel guilty”

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?

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

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

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

When I’m asked about the syndrome, I tell 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.

He says, “This is f**cking hard, but there is amazing beauty in it all.” And I know some people resent this – ‘stop saying 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.

Suddenly I could actually talk to someone who understood

Carole and her family sat on the sofa together
Carole and her family

Two years ago, I was sitting on that train, stunned by the life-changing news I had finally been given. Since then I found Face 2 Face, a free befriending service run by Scope, which connects parents who have disabled children. Suddenly I could actually talk to someone who understood. 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.

Now February has two significant days in my life: International Angelman Day and Rare Diseases Day.

I embrace them wholeheartedly.

It’s painful, because it’s a reminder that my son is different. But it’s also an occasion to celebrate him, and everyone out there who has a rare disease.

He who is called Dexter and has no obvious dexterity, also has a kind of dexterity that no one else has. He who cannot walk, can climb faster than me. He who cannot memorise words, can remind his dad to not forget his phone when he leaves. He, with his skin of eerie softness, his pure mind, and streaks in his hair which look like traces of god’s fingers, can embrace the two of us, and make us look at each other. In that, he’s meant to be here.

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

Would you like to talk to another parent who understands what you are going through and can offer emotional and practical support?

Face 2 Face schemes operate across the UK. Any parent of a disabled child may use their local scheme, even if their child hasn’t been diagnosed.

You can also chat to Ceri on our Rare Diseases community discussion. She’s a parent of a child with a rare condition, who manages the Rare Project – raising awareness of rare diseases through the arts. 

2 thoughts on “What it’s like when your child is diagnosed with a rare disease”

  1. Thank you Carole, I feel similar about my son. Alexander, a relative once said I hope he lives up to his greatness. He is great at being his individual Autistic self, he is passionate about what he does. He watches and listens to the same thing over and over year in year out. He has a rare condition Glycerol Kinase Deficiency, it means he has problems digesting fats and needs IV glucose if he don’t eat or is unwell. I am a fellow Paperweight I’m sure you recognise my story.

    1. Thanks Christine – and of course I recognise your story, how could I ever forget it? You are much further down the line than me, and I look up to you. Take care.

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