By Scott Thompson
THIS NEW mum was terrified when a day after taking her baby home from hospital he STOPPED BREATHING and TURNED BLUE but after doctors failed to diagnose his condition she took matters into her own hands and self-diagnosed her son with a condition that was later confirmed and causes EXCESSIVE LAUGHTER and breathing difficulties – that she says make him sound like DARTH VADER.
Nuclear engineer Emma Goodson (37) and Andrew Goodson (38) from Colchester, UK lost their first child in September 2015 due to a miscarriage so when she found out she was pregnant for the second time at Christmas 2016 she really wanted a successful pregnancy and birth.
Emma’s second pregnancy was not without its difficulties as she was hospitalised in the first trimester with pneumonia, asthma and had several stays on the maternity ward due to bleeding, but Emma thankfully gave birth to their son William on 26 August 2016.
Within just six hours of being born William had problems breathing and was struggling to feed due to an unusually short frenulum which is the strip that connects the underside of the tongue to the bottom of the mouth. He also rarely slept and screamed.
William was admitted to Colchester General Hospital when he was just two and a half weeks old and during just ten days there he was diagnosed with paronychia which is infection around the nails, urine infection, severe oral and rectal thrush, gastro-oesophageal reflux disease (GORD) which causes acid in the stomach to leak into the gullet, laryngomalacia (a floppy larynx) and sleep apnoea.
After ten days he was taken home for the first time and the next day he stopped breathing, his skin turned blue and he returned to the hospital. By three months old, William started to develop a squint, was still sleeping abnormally, had odd body movements and was unusually happy and laughing.
On April 23, 2017 at seven and a half months old, William went into a convulsive seizure which lasted for three and a half hours. At the hospital he had an MRI, CT scan and a lumber puncture and didn’t cry once.
Emma was doing some of her own research when William was sent home for the weekend and came across Angelman syndrome.
Angelman syndrome is 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. Although life expectancy is almost normal without the epilepsy.
Emma took William back to the hospital on the Monday for readmission and requested that Angelman Syndrome be added to the list of genetic tests, and after being told she was doing her son a disservice, he was tested for Angelman syndrome and a few months later when he was in intensive care for seizures, they finally got the diagnosis they so badly needed.
“Because I’d lost my first child during pregnancy in September 2015, 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.
“He was sent home that weekend and I was doing some research in medical journals when I came across Angelman syndrome. 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.
“On Monday I took William back to the hospital and asked him to be checked for Angelman’s 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.”
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 put him on a ketogenic diet in February 2019 which is a high fat low carb diet and has the potential to reduce the amount of seizures by as much as half.
“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.”
To follow their journey please visit their Instagram.