Leighton Buzzard mum smashes 249,000 step charity challenge for daughter, 4

Louise Desouza has raised more than £3,000 for the charity so far, inspired by her four-year-old daughter Deedee, who was diagnosed with nemaline myopathy in January this year.

The 37-year-old explained: “We knew that something wasn’t right from the get-go. In most aspects, Deedee was almost classed as a ‘normal’ baby, and you wouldn’t have suspected anything.

“Deedee’s first year was spent in and out of hospital for different reasons, as we tried to get to the root of the problem. Numerous conflicting conditions were suggested, which was frustrating. It was a difficult and rocky start as we juggled family life.

“It’s been a long, ongoing battle for a diagnosis since Deedee was born. After three and half years and further testing, we got our long-awaited answers and a confirmed diagnosis of nemaline myopathy, through an amazing team I had contacted at Boston Children’s Hospital, in America.”

She is on a mission to raise money and awareness for the charity, which supports more than 110,000 children and adults in the UK living with one of over 60 muscle wasting and weakening conditions. It also gave the family a £2,500 equpiment grant to buy arm supports for Deedee’s specialist chair and standing fraim, which Louise says has made “such a difference”.

Louise added: “Deedee’s condition affects all of her muscles. She needs support with breathing, swallowing, coughing, feeding and movement. Living with nemaline myopathy, even something as common as a cold can become life-threatening. She’s experienced more medical interventions and procedures in her first four years than most people would experience across a lifetime. Despite everything she faces every single day, she’s the strongest, most determined little girl—and without a doubt, the bravest person I know.

“When you have a life like this, you realise how much you change. You don’t just settle for the first thing someone says to you when it comes to your child. As a mother you do everything you can to advocate for your child. And when they have a life-limiting condition, that voice gets even louder. We’re constantly fighting to ensure that Deedee gets the best treatment.

“You never want your child to get diagnosed with a serious health condition. But after discovering what we’re finally dealing with, it gave us a bit of relief. Almost happiness that we finally got answers. It gives you hope, that should there be trials in the future, or treatments available, that she can now be involved.”

Louise tackled the challenge throughout the month of May, averaging around 9,000 steps a day.

She explained: “The number of steps in my challenge has a special meaning, as Deedee has a mutation on the NEB gene that has never been seen before. The goal of 249,000 steps reflects the 249 kilobases of the NEB gene.”

And she was joined along the way by daughter Deedee and son Nathaniel.

Proud mum Louise added: “Having the kids by my side on some of the walks was everything. Deedee’s big brother, Nathaniel, is her biggest supporter. Even when she does the tiniest of things he champions her. It’s been a real family affair.”

You can donate to Louise’s fundraiser online here.