Baby's excessive laughter was actually a sign he had a rare condition

When William Goodson was three months old, his parents noticed that he was unusually happy and was always laughing.

For most new parents, a happy baby would be something to enjoy – but something didn’t seem right for mum Emma and dad Andrew, from Colchester, Essex.

When their son suffered a seizure at seven months old, Emma started doing some research and came across a rare condition called Angelman syndrom – a complex neurological condition caused by the deletion of chromosome 15. It can cause movement disorder, difficulty swallowing, slow brain wave patterns, small flat head, epilepsy, low muscle tone and breathing problems.

Emma realised that William’s behaviour fitted many of the symptoms. She said: ‘My blood ran cold, he ticked every single box right down to loving water and being unusually happy. At that point I knew our lives would change forever.’

Doctors initially told her that he was just delayed because he was ill after he was born – but a few months later, he was diagnosed with the condition.

‘I’d lost my first child during pregnancy in September 2015 and our second child was very much wanted,’ Emma said.

‘Six hours after he was born, he presented with noisy breathing and weird breathing patterns which we were told was likely to do with the birth process.

‘Very quickly we noticed he struggled to eat due to having tongue tie which was cut at ten days old. Also, he wasn’t sleeping for 15 hours sometimes and was in pain all the time.

‘At two and a half years old at the Colchester General Hospital he was diagnosed with paronychia which is infection around the nails, urine infection, severe oral and rectal thrush, GORD which causes acid in the stomach to leak into the gullet and laryngomalacia which causes a floppy larynx that collapses into the windpipe which causes sleep apnoea.

‘He came home and a day later he stopped breathing and turned blue. That was our first ambulance trip. It was all quite the shock as you can imagine.

‘When he was just three months old, he developed a squint, had odd body movements, was always happy and laughing once the reflux was well controlled with medication, even when other kids cried, feeding him took hours, his breathing sounded like Darth Vader, he took no interest in his toys, but absolutely loved water and some plastics.

‘Oh, and he could go 15 hours with no sleep. When he did sleep, I was petrified he’d stop breathing permanently because of his apnoea.

‘April 23, 2017 when he was seven and a half months old, me and my husband were watching the London Marathon on the TV and William was napping upstairs. I could see him restless on the monitor so brought him downstairs with us. I had this sixth sense and we called an ambulance right away. Seconds later he went into a seizure that would last for three and half hours.

‘At the hospital he had an MRI, CT scan, EEG and lumber puncture and he didn’t even cry once. We were worried for a while as he didn’t laugh either, but then eventually the laughter came, and we were relieved.’

After researching Angelman syndrome days after William was released, Emma took William back to the hospital and asked for more tests, but because the condition is so rare, it was months before they got answers.

Emma said: ‘I asked him to be checked for Angelman syndrome. The doctor said I was doing our son a disservice and that he was behind just because he’d been so poorly, but the results came back two months later and we finally got a diagnosis.’

Now almost three, William has some challenging behaviours, he can’t walk yet, he doesn’t sleep and can’t talk but he still communicates with others.

He follows a ketogenic diet which means he no longer uses carbohydrates as an energy source but uses fat instead which can have a huge impact on seizures occurring.

The family have gained a lot of support from charity organisations, family and friends.

‘William sometimes bites, pulls hair and pinches. Yes, he can’t walk yet, yes, he doesn’t sleep, yes, he can’t talk but he still communicates. He understands much more than people think he does,’ Emma said.

‘He might never say ‘I love you’ but he grabs our head, kisses us and looks at us with such love. We know that’s his way of saying it.

‘William is a bubbly and cheeky child who is loveable and gives us the best cuddles and kisses ever. We love watching other people fall in love with him when they work with him.

‘His giggle is infectious and he’s an outrageous flirt.

‘We have received so much support from the children’s hospice and Angelman UK we can’t thank them enough.’

The family remind others that William’s diagnosis doesn’t define him.

‘I always tell families who are waiting for diagnosis, or just recently diagnosed, to remember that your child is not defined by their condition, so they are still the same child you loved yesterday,’ said Emma.

‘Ignore the text books, our children do so and we are continually surprised by them every single day.

‘Non-verbal doesn’t mean unable to communicate. A look, a hug, a kiss all means ‘I love you’.

‘It’s a scary time and whatever you feel is valid, it’s OK to not be OK and it’s normal to grieve for the future you thought you and your family might have had. But let them surprise you, you’ll learn so much.’

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