Warwick family share their story of waiting four years to get son's diagnosis for Jeans for Genes appeal

A family in Warwick have shared their story of waiting for four years to get a diagnosis for their son's rare genetic disorder for the Jeans for Genes appeal.

The Maclellan family have featured in The Courier many times over the last few years, from telling the story of their son Ethan to taking on challenges and events to help raise money for essential equipment he needs.

Now James and Laura have shared the story of how they finally got a diagnosis for Ethan.

Five-year-old Ethan, who is six in September, and his family are helping to raise awareness of children’s genetic disorders with the children's charity Genetic Disorders UK and their annual fundraising day, Jeans for Genes Day.

The campaign runs from Monday September 14 to Sunday September 20 and invites everyone to wear jeans to work or school in return for a donation. It raises money for charities including Zoe’s Place in Coventry, where Ethan goes once a month.

Ethan has now been diagnosed with Lesch Nyhan syndrome, a rare genetic disorder that almost exclusively affects males. It typically causes problems with the nervous system, behavioural disturbances and kidney and bladder stones.

The disorder, was detected by the 100,000 Genomes Project in March 2020,

Ethan has always needed round the clock care. He cannot walk, talk and is at risk of choking. He has dystonia - a movement disorder in which muscles contract uncontrollably and painfully. He bites his hands extensively, which is all linked to the disorder.

A defining marker for Lesch Nyhan syndrome is the high levels of uric acid, which started causing painful kidney stones for Ethan in October 2019.

Laura, said: “Ethan joined the 100,000 Genomes Project in 2016, undergoing tests to see if they could find the genetic disorder.

"When we got the news that he has Lesch Nyhan syndrome I was shaken up.

"The diagnosis is a hard one to get your head around.

"It is life-limiting, it is a spectrum and all children are different.

"It is hard to think for us nothing practically has changed, when you feel everything you know has changed."

Ethan was born in September 2014 after a normal pregnancy and problem free delivery.

However, Laura had to wake him to feed and it took two and a half hours to feed him a bottle of milk.

At four months old he was diagnosed with reflux, and with an allergy to cow’s milk he switched to prescription milk.

By Christmas, Laura and James, were worried that Ethan still could not support his own head.

Their health visitor recommended he spend more time on his tummy to strengthen his neck muscles.

Laura said: “In January I spoke about it to the consultant paediatrician, who Ethan was seeing for digestive problems and was reassured.

"Then Ethan was back in hospital again with digestion problems and one doctor noticed he had poor head control.

"By March he had an MRI scan, which showed he had an underdeveloped corpus collosum – the section that joins two halves of the brain.

"He was referred to Birmingham Children’s Hospital and it turned out that was a misdiagnosis.

"The neurologist said babies’ brains aren’t developed until they are two years old and his brain scan was normal.”

But despite the reassuring news from the brain scan, Ethan wasn’t meeting developmental milestones. By May his feeding was so poor he was fed through a naso-gastric tube.

In 2015 Ethan had surgery to fit a feeding tube into his stomach to enable the family to feed him first prescription milk before switching onto a blended diet last year.

“After the gastrostomy operation he was very sick,” Laura, who also has a nine-year-old son Tristan, recalls. “He also suffered from kidney stones, which were very painful to pass out naturally.

"He was referred to the urology team, where tests showed he had high uric acid levels.

"We were told this could be a marker for a genetic disorder.

"It took four years to get the answer and that it is inherited from me.”

Despite his complex needs Ethan is very alert and can communicate with his parents through a PODD book, which displays symbols and pictures.

At school he has started using eye gaze to communicate. Ethan goes to a special needs school and particularly enjoys time in the pool and rebound therapy, a form of trampolining soft play.

Laura says: “We use a stander every day to help Ethan’s posture and he sits in a bean pod.

"We take him out in an adapted wheelchair. We try to encourage him to lift his head.

"The dystonia can be very painful as his body goes stiff. He takes medication for it but sometimes the levels of meds are too high and he becomes floppy.

“His immune system is low and he’s had chest infections. I am worried about Ethan getting coronavirus because he has so many complex needs.”

Laura added: “It is early days for us. Doctors have said his hand biting will get worse and he has to wear gloves. The dystonia may get worse.

"We are waiting for a plan from the paediatricians and Ethan has been put on different medications for his dystonia and high uric acid.

"We have support - Ethan has physiotherapy, speech and language therapy, occupational therapy, he sees a paediatrician and the community nursing team.”

Once a month Ethan stays overnight for respite care at Zoe’s Place hospice in Coventry.

Laura says: “Ethan really enjoys going to Zoe’s Place.

"We know he is so well looked after there, and it makes such a difference to our family. It takes up a lot of time looking after Ethan, it is constant. Tristan never moans about it but it is hard for him.

“It is a shame Ethan won’t be able to enjoy things that able-bodied children can do. He is a joy. I wouldn’t change him for the world. I would change the condition for him, but not for us.”

For more information go to: www.jeansforgenesday.org