Reuben Mottershead, 16, was just an active teenager when he started complaining of extreme fatigue and his collarbone swelled up. When tests revealed he had an extremely rare disease, his life changed in an instant.
Reuben Mottershead is 16 years old and lives in Cheshire, England. As a “normal” teenager, he always liked to play football, ride a bike and take every opportunity to exercise in the outdoors.
His mum, Emma, recalled the “terrifying” moment when doctors told him he could have a heart attack at any moment…
“He was always very active and very energetic. He loved golf, billiards and horses,” his mother Emma told the Mirror newspaper, confident that Reuben had started to “burn out” faster than usual when he reached the age of around seven. . “He was always playing football during breaks at school and he had a bit of trouble with his leg muscles,” she recalled. However, knowing how easily children can tire, she and her husband Jason worried little. But, in March 2021, during lockdown, when the family went on a bike ride, Reuben started complaining of being exhausted, which was very unusual. “We had done quite a long drive the previous weekend – around 29 kilometers – and Reuben had really struggled,” said Emma. “He complained that his shoulder was hurting him and said, ‘I can’t do this’.
A vital emergency
However, the following weekend, the young lad was keen to get back on his bike ride. The little family then went on another trip during which, once again, Reuben complained about his shoulder. It was then that Emma realized that her son’s collarbone looked very swollen. Having made an appointment with an osteopath, the latter, after examination, preferred to refer him to a general practitioner. Reuben thus passed an x-ray and a blood test to which Emma pays little attention, her son still being himself. However, a few days later, Emma received a chilling phone call from the doctor. “She asked where Reuben was and how he was feeling,” she recalled. “I told him he was just playing upstairs like he often did and looked good.” The doctor asks Emma and Jason to take their son to the emergency room immediately after the blood test results showed very low potassium levels.When they arrived, the doctors seemed concerned.
Risk of cardiac arrest
“We were admitted to a children’s ward and then told that Reuben’s potassium level was extremely low and that he was at risk of cardiac arrest,” Emma explained. “It was terrifying.” Reuben spent the week next in hospital while doctors stabilized his potassium levels with a treatment that required taking 50 pills a day, but did not get an official diagnosis.Months later, genetic tests confirmed that Reuben was has Gitelman syndrome, an incredibly rare kidney disorder that causes an imbalance of charged atoms in the body and can affect levels of magnesium, calcium and potassium Currently, there is very little research on this condition affecting 1 in 1 people. 40,000, but it’s possible it could cause dangerous abnormal heart rhythms.
A drastic life change
Even before Reuben’s diagnosis, his life and that of his parents changed in an instant. “All of a sudden, I felt like everything was so delicate,” Emma noted, continuing, “We didn’t dare leave the house because we had to give Reuben his medicine. Alarms were going off all the time. day to remind us”. Even today, daily life is complex “He now takes more than 50 tablets a day. It was a difficult time and it took us all a long time to understand this” Reuben also has to give up sports and avoid high temperatures because if his body were made to sweat, he could lose vital ions he needed to survive.”He doesn’t drink plain water. He has to drink water with powder which is full of ions, or coconut,” she explained. “If we go out as a family, the first thing we think of is packing Reuben’s medicine,” noted her mom, adding that they can never “just drop by” at someone’s house. years thinking about pills. Recently, Emma found a way to get Reuben back into sports and doing what he loves after getting him an electric bike. “It’s not necessarily a life-limiting condition, but it certainly changes it,” she concluded.