The mum of an active teenage boy who loves the outdoors has recalled the “terrifying” moment doctors told her he could have a heart attack at any time.
Reuben Mottershead, 16, from Cheshire, had always loved playing football and cycling, and took every opportunity possible to get active.
“He was always very active and very energetic. He loved golf, snooker and horses,” his mum Emma told The Mirror.
Despite being full of beans most of the time, Emma says Reuben started to “burn out” more quickly than usual when he reached the age of about seven.
“He’d always play football in break-time at school and he’d struggle a bit with the muscles in his legs,” Emma recalled.
However, knowing how easily kids can tire themselves out, she and her husband Jason thought little of it.
But in March last year during lockdown, when the family took a cycling day out, Reuben started to complain he was exhausted - which was very out of character.
“We’d done quite a big ride the weekend before - about 18 miles - and Reuben had really struggled,” Emma said.
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“He complained his shoulder was hurting and said, ‘I can’t do this’.”
But the following weekend Reuben seemed keen to get back on the bike - so the family took another trip out.
Once again Reuben complained about his shoulder - and Emma realised her son’s collarbone looked very swollen.
The mum booked her son in for an osteopath appointment, but after examining him, the professional was reluctant to treat the teen and referred him to the GP instead.
Reuben had an x-ray and a blood test at the GP surgery, but Emma recalls “not thinking much of it” as her son was still his same old self.
However, just a few days later, Emma received a chilling phone call from the doctor.
“She asked where Reuben was and how he was feeling,” the mum recalled.
“I told her he was just upstairs gaming like he often did and he seemed fine.”
Then the doctor told Emma and Jason to take their son straight to A&E because the blood test results revealed very low levels of potassium.
Emma and Jason did as they were told and rushed their teen to hospital. When they arrived, doctors seemed concerned.
“We were admitted to a children’s ward and then we were told Reuben’s potassium level was critically low and he was at risk of cardiac arrest,” she said.
“It was terrifying.”
Emma added that, despite doctors saying their son was dangerously close to a medical emergency, he still seemed like his usual self and didn’t look unwell at all.
Reuben spent the following week in hospital while doctors stabilised his potassium level, but he still didn’t have an official diagnosis.
Although mystery surrounded the teen’s condition, he was given treatment for his symptoms - which included taking 50 tablets every single day.
Months later, genetic testing confirmed Reuben has Gitelman syndrome, an incredibly rare kidney disorder that causes an imbalance of charged atoms in the body.
It can affect magnesium, calcium and potassium levels. Currently, there is very little research into the condition, which affects 1 in 40,000 people, but it’s thought Gitelman syndrome can cause dangerous abnormal heart rhythms.
The condition is caused by gene mutations that some parents carry - and is inherited when both parents carry one mutation.
Even before Reuben’s diagnosis, his life, and the lives of his parents, changed in an instant.
“All of a sudden it felt like everything was so delicate,” Emma said.
“We didn’t dare leave the house because we had to give Reuben his medicine. We had alarms going off throughout the day to remind us.
“He’s now on even more than 50 tablets a day. It’s been a difficult time and it’s taken a lot for us all to get our heads around it.”
She added Reuben had to give up sport and avoid hot weather, because if his body was allowed to sweat he could be at risk of losing vital ions he needs to survive.
“He doesn’t drink plain water. He has to drink water with powder in it which is full of ions, or coconut way,” Emma said.
Every day Reuben has to take his more than 50 tablets at scheduled times and he has to plan his life around his medication.
“If we’re going out as a family the first thing we think about is packing Reuben’s medicine,” Emma said, adding they can’t ever “just pop over” to anyone’s house without thinking about the pills.
Recently, Emma found a way to get Reuben back in the fresh air and doing what he loves after bagging him a free electric bike.
She discovered a Free Ride to Recovery scheme from a company called Avaris, which donates revamped e-bikes to people with illnesses or injuries that would otherwise stop them from being active.
Using a bike with pedal-assisted power means Reuben can keep up with his family even when he’s tired - and Emma says it’s worked wonders for him.
“It’s so good to see him in the fresh air again - it’s good for his physical health and his mental health,” she said.
The mum added that while the family is getting to grips with Reuben’s condition, she worries as he grows up and eventually moves out.
She said: “We’re still adjusting to managing his condition, but eventually I’ll have to pass the responsibility on to Reuben as he becomes an adult.
“It’s not necessarily a life limiting condition, but it is certainly life changing.”
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