A young couple were told by doctors their son would never be able to sit up, hold his head up, crawl or walk – and he was only expected to live until his teenage years. But defying all odds Frankie Penfold took his first steps down the aisle at his mum’s wedding and there wasn’t “a dry eye in the house”.
Frankie, now 10, was born with SUCLA-2 mitochondrial depletion syndrome – an inherited disorder which affects the early development of the brain. His parents, Hannah and Tom, both 32, were told by doctors he wouldn’t live past his teenage years.
His symptoms include being mildly deaf, not being able to hold his head up, and not being able to walk. But he used machines with harnesses to help him strengthen his muscles by weight-bearing on them, alongside adults helping him to walk – and trained for five years to walk Hannah down the aisle on April 8, 2023.
Hannah, a fundraising assistant, from Weston-super-Mare, North Somerset, said: “There wasn’t a dry eye in the house – I’ll never forget that moment, for the rest of my life. It wasn’t just mine and Frankie’s dream, it was Tom’s, and my dad’s. People were smiling and crying and clapping the whole time. It felt like each of those clips were precious memories – the achievement of what Frankie was doing was so much.”
Frankie didn’t start showing signs of mitochondrial depletion syndrome until after he was born. Within his first month, he failed multiple hearing tests – leading Hannah and Tom, a senior operational manager, to think he was mildly deaf.
But by four months old, he wasn’t hitting any of his first milestones – like holding his head up or sitting up. Hannah said: “His hearing tests came back indicating he had mild hearing loss. We accepted it; we thought it was something we could cope with. But we slowly started noticing he wasn’t hitting his milestones.”
At five months, Hannah and Tom suspected Frankie had cerebral palsy – and began the lengthy diagnosis process. The tot had to undergo blood tests, occupational therapy and physiotherapy, and he eventually received a diagnosis just before his first birthday.
Hannah said: “I’d never heard of mitochondrial disease. I wasn’t prepared for it, and it felt like my world was coming crashing down. It was really heartbreaking, and something I’ll never get over.” Frankie was examined by a professor, who specified he had the SUCRA-2 type – which affects brain and muscle development from birth. After genetic testing, it was revealed Hannah and Tom were both affected by a faulty gene.
The couple have tried to include Frankie with his siblings, Penelope, six, and Teddy, four, as much as they can. This led Hannah to realising she wanted Frankie to walk her down the aisle – as his brother and sister would be too.
He began having sessions on different physiotherapy machines at Gympanzees – a support organisation based in Bristol. His favourite was a machine called the Upsy – which helps him stand upright, keep his head up and walk, aided by an adult.
Hannah said: “Going back to 2018, the founder of Gympanzees, Steph [Wheen], introduced us to the Upsy. A child in the device is able to weight-bear and feel the use of their legs with a harness attached. Frankie literally got in it, stood up for the first time – and his eyes just beamed.”
Frankie spent five years training on the Upsy – and on Hannah and Tom’s wedding day, he was able to walk his mum down the aisle, followed by Penelope and Teddy.
Hannah said: “He worked so hard, and on my wedding day in 2023, he managed to do it. Frankie wasn’t nervous – he’s such a people person. He was absolutely beaming in the background. I can’t put into words how much it went – all the struggle, all the love, all the joy.”
