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What the Doctor Doesn’t Tell You About Angelman Syndrome

You can hardly hear what she’s saying. Your heart is beating so loudly that it’s drowning out her words. You’re quickly regretting opening the door to her. The pediatrician came to give you an update on the blood test results. Her words are now just a steady stream of medical jargon echoing around the room. You are in the room, but you’re not really there. Whether you like it or not, her words are being fired at you, one after the other. Another linguistic bullet hits. You have to pay attention but it’s too much. Your eyes fill with tears as you drift further and further into an imagined future. Surely someone else’s future. Not yours. Not his. You tentatively glance at the paperwork she gently places on the coffee table in front of you with the results. The proof. The evidence. No longer a possibility, a maybe, a probably not. Instead, a reality. The cup of tea going cold in front of you is no longer a welcome break, a sigh of relief, but instead a stark reminder of your old normality, the routine you once had, what once was but now will never be again. 

Her face is kind, compassionate and caring but there is no comfort in what she is saying. She says “developmentally delayed.” She says “will probably never talk.” She says “difficulty walking,” “sleeping problems” and “likelihood of epilepsy.” 

She says Angelman syndrome, a rare genetic disorder that affects the nervous system.

She leaves you with some photocopied information sheets and some links to websites. She reminds you of how beautiful your boy is, though, and how you are such good parents. You smile and thank her through red, puffy eyes and she’s on her way. 

But wait. She left something out. How could she have forgotten? Did she leave one of the photocopied sheets in her bag? The one that had “all the other stuff” written on it? If only you could turn back time and march her right back into that room and get her to retrieve the crumpled up piece of paper from the bottom of her bag and read it out to you. All. The. Other. Stuff. You need to hear this. You, who is now crying into your husband’s chest as you both sit, silently watching your beautiful boy playing on the floor, utterly unchanged from the moment he became The Boy With Angelman Syndrome.

What if you could turn back time? Imagine if you could get her to retrieve that forgotten piece of paper crumpled up at the bottom of her bag and read out to you all the other stuff she left out when she gave you the diagnosis. The piece of paper that says:

Additional Information About Your Child:

Your boy is still your boy. He is beautiful. He is perfectly made. He is exactly as he should be. He hasn’t changed. It may seem as though he is lacking in some things right now but just you wait and see what he can do. In a few weeks, in a few months, in a few years. Wait. He’ll blow your socks off. He really will. He’ll go at his own pace, as we all do, but he will make progress. Some things he may never learn to do by himself, but what he can’t do on his own, you’ll do together. But more about you later. 

Be prepared for the most wonderful hugs. If you already know what I’m talking about you need to know that the bigger and stronger he gets, the more intense they will become. They will heal your soul. They are full of love, if a little painful at times, but he will somehow manage to time them at exactly the point in the day when you’re feeling low, unloved and in need of a little oxytocin. 

He has the ability to profoundly affect other people just by being himself. For someone who will say few, if any, words at all, this is quite a remarkable thing. Just smiling at and reaching out to hold the hands of people he has never met before he will do something unexplainable to them. Wherever he goes, he will make people stop and think.

Your child will bring a huge amount of joy to your life. Where it says “happy demeanour” in the characteristics of Angelman syndrome, I want you to cross that out now and write “joyful demeanour.” Joy comes from a much deeper place than happiness and you’ll know what I mean when you see the pleasure he will take in the simplest, most beautiful things. It’s infectious. It will feel strange at first to feel what he’s feeling — such profound joy when your life has been turned upside down by the news of your child’s diagnosis. But you will feel it.

While your other children and your friends’ children grow up and grow out of wanting to be with their parents, your boy will always think you are the best thing since sliced bread. He will greet you every morning like it’s been months since he last saw you. He will always find you the funniest person in the room, even when your jokes are rubbish and you haven’t the energy to tickle him. He will seek you out over and above anything else. Even an iPad. Even food. Because you are the best thing in the world to him.

And at the bottom, in small print, barely legible but possibly the most important part of it all, would be a small section called: 

Additional Information About You:

This news will seem like it’s going to break you. And then it will make you. You have the choice to wallow in the struggles or to get up and fight. And your boy needs you to be a fighter. This world isn’t good enough for him so your job is to make it good enough. You are his advocate and you will become a force to be reckoned with. You have fight after fight ahead of you to get your boy what he needs. You will be a warrior on the outside but you should see how soft you will become on the inside. The empathy you will feel for other vulnerable people now that you know what it’s like to raise one, the injustices in this world that will anger you and reduce you to tears will be the making of a brand new, beautiful you. Yes, you will be exhausted beyond words (if you don’t drink coffee, today is the day to start) and some days it will all feel like too much. Be kind to yourself. He only has one of you. Be vulnerable. Pride is a thing of the past now. You need all hands on deck to raise your boy, so gather your villagers around you and tell them exactly what he needs. Exactly what you need. Remember what she said. He is still your beautiful boy. And you are such good parents.

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