‘I’ll never hear William say he loves me’
- Credit: Archant
Fundraisers will be wearing jeans to work and school on September 21 to raise money and awareness of genetic disorders affecting children. Sheena Grant hears one family's story.
Proud parents Emma and Andrew Goodson were overjoyed when they welcomed their newborn son to the world in August 2016.
But by the time he was two weeks old William was struggling to breathe and feed and had to go back to hospital.
Just over a year ago he was diagnosed with Angelman Syndrome, a rare genetic condition which means he may never walk or talk.
Knowing they may never hear their son say 'mummy', 'daddy' or tell them he loves them has been devastating for the Emma and Andrew but they are determined to be positive.
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They and William are helping raise awareness of children's genetic disorders with the charity Genetic Disorders UK, whose annual fundraising day, Jeans for Genes, takes place on Friday, September 21, inviting people to wear jeans to work or school in return for a donation.
Angelman Syndrome affects one in 15-20,000 births and causes severe learning disabilities, though those with it are often apparently 'overly happy' and extremely sociable.
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Just hours after William's birth Emma, 36, noticed his breathing was laboured.
She said: 'We were told it was mucus from the birthing canal and sent home. But William also developed feeding difficulties, puffy-looking fingers, jaundice and severe nappy rash. He struggled to breathe. When he was two weeks old we went back to hospital.'
Tests revealed he had a floppy larynx, which made it hard to breathe, severe reflux and a urine infection. He was kept in hospital for two weeks, but two days after returning home he stopped breathing and was rushed back in by ambulance. Reflux medication helped, and his parents hoped William was on the mend.
Emma said: 'He started to smile, he was very happy. I didn't know it at the time, but a symptom of Angelman Syndrome is that children are often overly happy. Sometimes when we were feeding him, he would look off to the side as if he were in a different world. He wobbled all the time, like a jelly. His body had grown, but his head was still tiny.'
Then, in April 2017, William had a three-and-a-half hour seizure, which resulted in another hospital stay. Tests showed an unusually slow brainwave pattern. William's shaking hands and unusual body movements, known as ataxia and dyskinesia, were getting worse so Emma started her own research.
'I read about Angelman Syndrome and my blood ran cold. He had all the typical characteristics: fair hair, fair skin, a small head which was flat at the back, ataxia, a fascination with water and music and unusually happy. William even had a squint, which is also a symptom. What I read described my son perfectly,' she said.
Doctors agreed to test for a range of conditions, including Angelman Syndrome.
After further seizures William ended up on a ventilator in St Mary's Hospital, London, in June 2017. It was the same week as the Grenfell Tower disaster.
Emma said: 'We could see the tower from the hospital windows. There were kids in the hospital who had lost everything. I was devastated about William but it also gives you a healthy dose of perspective.'
It was during this stay that Emma and Andrew, who live in Colchester, were given William's test results.
Emma said: 'The doctor gave us details of ASSERT, a charity which supports those with Angelman Syndrome. I was given the number of the helpline and loads of details about the condition. I just remember thinking 'thank goodness'. There is someone out there who gets it.'
ASSERT is one of the charities that will receive money from this year's Jeans for Genes Day.
William still has regular life-threatening seizures as well as pseudomonas, a life-threatening lung infection. He needs daily physiotherapy and started crawling around 18 months, quite early for someone with Angelman Syndrome.
Emma said: 'I don't think I will ever hear him say 'Mummy', 'Daddy' or 'I love you'. But he does tug on my hair when he wants a kiss.
'Despite everything he is one of the loveliest, cheeky and most determined children you will ever meet. It is a spectrum condition but as certain as I was that he had Angelman, I know that my son is not severely intellectually impaired. He is so inquisitive.
'My dream would be to see him walking. When he was first diagnosed I never thought it possible. One of the most upsetting things for me was thinking he would never kick a football around the garden with his grandad. But maybe one day he will.'
Day-to-day life is difficult, but Emma, an engineer, and Andrew, 37, an insolvency practitioner, want to give him the best life they can, although they can't go on holiday and rarely leave their home county.
'Sometimes we have to remember that it's ok to be a normal family. It's easy to get caught up in the appointments,' said Emma. 'It's hard when you see other children grow up and do things William may never do. William will never get married. He won't do his GCSEs. He will never get a job, he will never leave home.'
To find out more or make a donation visit www.geneticdisordersuk.org. Money raised on Jeans for Genes Day funds the work of Genetic Disorders UK and provide grants to organisations such as ASSERT for projects that aim to transform the lives of children with genetic disorders.