At the height of the pandemic, mum, Jen, was given the news at her 20-week scan that something wasn’t quite right with her baby’s development. With covid restrictions in place, Jen was alone when she was told that her baby’s femur was significantly shorter than expected.
This abnormality could have been an indicator of several possible outcomes, and Jen and her partner Jason were devastated to learn about the potentially life-changing conditions their baby could be faced with.
At their referral appointment, Jen and Jason were offered a termination for medical reasons, but the couple chose to continue with the pregnancy.
In September 2020, they welcomed baby Jonah via c-section. Jonah didn’t have an easy start, beginning his life in intensive care at the Jessops Wing of Sheffield Teaching Hospitals.
He was diagnosed with Osteogenesis Imperfecta, also known as brittle bone disease. Jonah was born with a broken arm, and scans showed that Jonah had already suffered fractures when he was in his mother’s womb.
Now four years old, Jonah is thriving under the care of the Paediatric Bone Disease Service at Sheffield Children’s.
Sheffield Children’s NHS Foundation Trust is a national and international centre for treatment and research of Osteogenesis Imperfecta, providing expert care for children like Jonah from across the UK and beyond.
Jonah has experienced much more than many toddlers, undergoing 20 bisphosphonate infusions to date, three rodding surgeries, countless blood tests, and hydrotherapy sessions, to name just a few of his treatments and tests. Jonah visits Sheffield Children’s every three months for his bisphosphonate infusions and routine appointments with specialists.
Bisphosphonates are a class of medications that slow down bone resorption, increasing bone density and reducing the risk of fracture.
Jen said: “It’s difficult to know how many fractures he has suffered from in his short life so far. It’s at least over 15 at this point, but it is a fact of life now, and Sheffield Children’s Hospital does an incredible job of making sure we can help prevent this as much as possible.
“There is no cure, just adaptations we can try and make to help Jonah live his life. Building up his muscle tone and strength is incredibly important. There was only so much weight he could put on his legs as they were bowed so much, but thanks to Sheffield Children’s, he has now had both his femur and tibia rodded, which has made him stronger and more stable on his feet. As a baby, he would sometimes have fractures that we weren’t even aware of. Navigating parenthood with a rare condition like this has been and still is, really testing.”
Jonah’s dad, Jason, said: “Jonah is such a lively boy with a cheeky personality. It’s been a tough few years, but he doesn’t know any different life; he is used to the endless appointments and pokes and prods, and he takes it all in his stride.
“Sheffield Children’s Hospital has been incredible in helping us adapt our approach to the daily realities of his life. From dieticians to physiotherapists, ear, nose and throat specialists, psychologists, physios, the Play Team, the wonderful nurses and the world-class Metabolic Bone team. Even the cafe staff know Jonah by name now.”
Thanks to the specialist care offered by Sheffield Children’s Paediatric Bone Disease Service, children and families travel from near and far for regular appointments.
Jen added: “We’ve made friends from across the country; Liverpool, Chester, Ireland and beyond. We have a special bond as a community of people that understand the impacts that brittle bone disease has not just on a child but on the whole family.”
Inspired by the care Jonah receives, Jen and Jason became dedicated fundraisers for The Children’s Hospital Charity.
Their efforts have seen them take on the Great North Run, a Tough Mudder, and the “hardest thing they have ever completed” - The Yorkshire Three Peaks. They have also found support through Jason’s workplace, Hy-Ram Engineering, who have taken part in the charity’s Christmas Jumper Day, and organised a team to take on the gruelling 25km Peak District challenge in Jonah’s honour. Together, Jonah’s fundraisers have raised over £5,000, and this wouldn’t have been possible without Hy-Ram Engineering’s support.
Jason said, “Jonah will never be able to do these sorts of challenges, and we are sadly reminded of that every day. But we can do it for him. We try to raise as much as possible to help him in the future, as well as other kids who live the same reality and restrictions that Osteogenesis Imperfecta brings.”
Jonah will continue to receive care at Sheffield Children’s throughout his childhood, with the expert team there to support him and his family every step of the way.
Jonah’s consultant, Mr Stephen Giles, said: “Jonah’s been an absolute star of a patient! He’s one of the youngest that we’ve ever performed rodding on at just around a year of age. This was in part due to his “can-do” attitude and determination to just get on with life, not letting anything get in his way or stop him growing and developing, not even a broken thigh bone. Once we had fixed and rodded it, in what seemed no time at all, he was back up on his feet, racing around and creating mayhem as usual!”
The fundraising in Jonah’s name continues, with a Wishbone Day Party. Wishbone Day takes place on the 6th May each year and aims to raise awareness of Osteogenesis Imperfecta. Jay and Jen have also signed up to represent The Children’s Hospital Charity for the National Three Peaks challenge from 21-23 August this year. They will join supporters from children’s hospital charities across the country, with the shared goal of raising money to change children’s lives.
The fundraising doesn’t stop there as a team from Hy-Ram Engineering is set to take on the Robin Hood Half Marathon in Nottingham on Sunday, 28th September. Dad, Jay, will be amongst the runners, continuing the family’s dedicated support for The Children’s Hospital Charity.
To support Team Jonah’s latest fundraising efforts, visit: https://www.justgiving.com/page/wishboneday25-tchc
To help children like Jonah receive the care they need when they need it most, visit tchc.org.uk and plan your own fundraiser.