A mum from Cheshire says she was devastated after finding out her teenage son had a rare genetic disorder which will see him on medication for the rest of his life. Emma Mottershead, from Hunsterson, said son Reuben, 16, was diagnosed with Gitelman Syndrome in April last year.
It’s a life changing kidney disorder that causes muscle spasms and weakness, fatigue, nausea and vomiting - due to an imbalance in ions in the body, like potassium and calcium. The once active teen now takes almost 50 tablets a day to balance and maintain these ions, and had to give up his favourite hobby of cycling, after the physical effects of riding a pedal bike became too much.
Emma says the teen has been given ‘a new lease of life’ as he was gifted an electric bike with pedal-assisted power - so he no longer has to miss out on doing something he loves with friends. Reuben was able to get the bike due to the Free Ride to Recovery Initiative set up by electric bike retailer Avaris eBikes.
Emma, 45, said: “Finding out about Reuben’s diagnosis left us in complete shock and confusion. He was born with the condition, but we didn’t know, because it usually only becomes apparent in the second decade of life or later.
"We were told both myself and Reuben's dad Jason are carriers of the condition, but we had no idea. Reuben used to lead a very active life, he played football and saved up to buy himself a second-hand road bike.
"He was starting to rack up the miles and he loved cycling. But he kept having unexplained pain in his clavicle bone, and after a scan showed some swelling, he had a blood test done.
"It showed he had a critically low level of potassium, among other things, and was at risk of cardiac arrest. We were sent straight to A&E and ended up staying in hospital for a week while doctors figured out what was going on.
“Me and my husband were in complete disbelief at what was happening. Our once fit and healthy son was lying in a hospital bed with monitors and drips connected to him.”
Reuben underwent IV hydration at Royal Stoke University Hospital, where doctors re-hydrate a body with the fluids it’s lacking, like water and dissolved salts, called electrolytes. Gitelman Syndrome discards these electrolytes, and it’s at this point Reuben was given the shock diagnosis.
“Knowing about the symptoms the condition causes now explains a lot of things about Reuben’s childhood,” added Emma. “He had a lot of muscle cramps, tired legs and some dizziness.
“Just before the diagnosis Reuben started to get disheartened with cycling, he wasn’t able to keep up because his legs were getting unusually tired, his arms and shoulders were becoming sore and his friends were starting to comment on his poor performance. After we found out why, I started looking into electric bikes in the hope that buying one for Reuben would mean he’d be able to keep up with his friends and continue doing something he enjoyed.
“Exercise depletes everyone's electrolytes, but with the kidney defect Reuben has, the effects are worse and he can become really unwell as soon as he exerts himself, even when he’s taking medication.” It was at this point Emma came across Avaris eBikes’ Free Ride to Recovery Initiative, which sees refurbished electric bikes donated to people with conditions, injuries or other ailments, that stop them carrying out many forms of exercise, including regular cycling.
It’s a way for them to aid their rehabilitation, or so they can continue to enjoy a sense of independence and freedom that they might not otherwise have. Emma added: “I can’t explain how much it means to Reuben, and our family, to have received an electric bike from Avaris.
“As his parents we feel happy and reassured knowing he can still do something he loves, and that he has the assistance on the bike to fall back on, leaving him to enjoy every mile without anyone worrying. Reuben has been incredibly brave and mature all throughout all of this and we admire his determination not to let the condition stop him from living his life.”
Reuben’s health is being monitored by kidney specialists and for the rest of his life he’ll be monitored for any potential heart rhythm issues - as those who suffer from electrolyte issues can develop these.
Richard Heys, the founder of Avaris eBikes, said: “When we hear stories like Reuben’s, and the impact an electric bike is having on his life, we feel honoured as a business that we’re able to make a difference in some way. We’ve donated eBikes to heart condition sufferers, people with Chronic Fatigue Syndrome, those recovering from major operations and more.
“Our electric bike has varying levels of pedal assisted power which means users can control their rides and the level of effort they need to put in - it’s a wonderful way to aid rehabilitation and can help a person manage the effects of health conditions they have, while still being able to exercise.”
