“He has been through so much the past six years, but he’s carried on regardless. He is a true little soldier.”
Jacob Adams was just two years old when he was diagnosed with a rare genetic disorder named 16p11.2 microdeletion.
The news came after a lengthy battle to find out what was causing his numerous health problems.
It was a tough time for the Kitt Green family and now his mother Helen Ashworth has shared their experiences ahead of Jeans For Genes Day.
She wants to encourage people to wear jeans to work or school on Friday, September 21 and make a donation to children’s charity Genetic Disorders UK.
Jacob, now seven, was born with Pierre Robin sequence, a condition which causes jaw, tongue and cleft palate abnormalities and can lead to difficulty breathing and feeding.
Helen said: “For the first few weeks of his life Jacob was on the neonatal unit at Warrington hospital. He was fed through a nasogastric tube and had a tube in his airway for breathing.
“His jaw was really set back and he looked so fragile.
“Once home those first few months were hard and being a first-time mum was very scary. Jacob couldn’t lie on his back because it obstructed his airway, so he had to be permanently on his side until he had surgery.”
The tot had his first operation on his cleft palate at Alder Hey Children’s Hospital at nine months old.
He was diagnosed with epilepsy at 18 months and an MRI scan revealed he had a brain condition called Chiari malformation, where the brain pushes down into the spinal canal. He needed decompression surgery as soon as possible.
Helen, 44, said: “I was absolutely petrified.
“I was seven months pregnant with my youngest son Lewis and my two-year-old boy was about to have brain surgery.
“It was all a blur, we felt we lived at Alder Hey. Jacob had his surgery and amazed all the doctors with his quick recovery. He was even up out of his cot and playing the day after surgery.
“The doctors linked Pierre Robin with epilepsy and the brain disorder and Jacob was tested for a genetic condition. I was worried whether my baby would be affected too. It was a very stressful time.”
Tests showed Jacob had the rare genetic condition 16p11.2 microdeletion, where there is a tiny deletion of genes on chromosome 16p.
It occurs in around three in 10,000 people and can lead to developmental delays, learning and behavioural difficulties and health problems.
Helen, a health and social care trainer and assessor, and her partner Robert Adams, Jacob’s main carer and a special inspector with Cheshire police, tested negative for the condition, meaning it was a one-off mutation.
Helen said: “Emotionally it was very hard. We walked out of the geneticist’s room overwhelmed by the condition. The geneticist went through the details of what may happen in the future, but really we didn’t know what the future would hold for Jacob as the disorder can vary in severity.
“I had a caesarean with Lewis as I didn’t think I could cope emotionally with going through labour.”
Helen carried out research into the condition and contacted charity Unique, which receives a grant from money raised on Jeans For Genes Day.
They provided information and newsletters, as well as putting Helen in touch with other parents whose children have the condition.
“It means a lot to connect with other families and that wouldn’t have been possible without Unique,” she said.
Jacob’s development is currently two-and-a-half to three years behind. He has just learned to count to 20 and spell his own name, on a par with his four-year-old brother.
His speech is very unclear, compounded by conductive hearing loss, and it can be difficult for his family to understand what he is saying, leading to frustration, behavioural difficulties and meltdowns.
He cannot cope with a change of routine, gets anxious and is being assessed for autism.
However, Jacob is thriving at Hope Special School and he is learning Makaton sign language.
Helen said: “Lewis is now overtaking Jacob in his development and that is hard to see. Lewis shows his big brother how to do things.
“In his mobility, Jacob developed at a normal rate. He was walking at 13 months old, although he lost balance when he had the brain condition.
“He is now a very active little boy, but he does tire easily and he can’t be left on his own at all because he has no sense of danger.”
Jacob had another cleft palate surgery in February last year, followed by decompression surgery two months later.
He loves going on holiday to North Wales, spending time on the beach and riding his scooter and enjoyed a holiday to Disneyworld this summer.
Helen said: “He has been through so much the past six years, but he’s carried on regardless. He is a true little soldier and is loved by everyone who meets him. His world might be a little different, but he keeps on fighting.
“I do worry about the future. The older I get, I’m aware that time is ticking on and worry what will happen to Jacob if something happens to us. But he gets on amazingly well.”
To find out more about Jeans For Genes Day, go to www.jeansforgenesday.org.