A Mother’s march covering 249,000 steps in May

Mother-of-two Louise Desouza set herself a challenge of covering 249,000 steps across the month of May, inspired by her four-year-old-daughter Deedee, who was diagnosed with nemaline myopathy earlier this year. Louise shares their story.

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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.

The first year of life

My pregnancy with Deedee was normal, the only difference from my first pregnancy was that she moved slightly less. As I’m diabetic, I had quite a lot of scans, but no issues were flagged with her movements or growth.

Deedee was born through a planned c-section on 15 February 2022. On her delivery, she was quite floppy and needed some support with her breathing. I remember her having such a weak cry. We spent the first nine days of her life in the neonatal intensive care unit (NICU) as they tested her for an array of things.

Day-by-day she improved and we finally took her home. It was here, we noticed she had difficulties feeding from both the bottle and breast. Around six-weeks-old, she had a choking episode. We stayed in hospital and everything started to unravel, as we tried to get to the root of the problem.

Deedee’s first year was spent in and out of hospital for different reasons, including the respiratory syncytial virus (RSV) and Rhinovirus, which is just a common cold. She was intubated twice in intensive care to support her breathing and placed in an induced coma. It was a difficult and rocky start, and we were constantly juggling things as we also had our three-year-old son at home.

Deedee’s diagnosis

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. Numerous conflicting conditions were suggested which was really frustrating.

We were lucky as our hospital listened to us from the start. We worked with the healthcare professionals to get answers together, rather than being fobbed off or told we were ‘over-reacting’.

It’s been a long ongoing battle for a diagnosis since Deedee was born until January this year. When she was in the intensive care unit at around three months old, they tested for everything and all results came back as ‘normal’. However, as the condition was so rare, it wasn’t even showing up.

When she was a few months old, the consultant dropped ‘nemaline myopathy’ into conversation at a multidisciplinary team meeting, but no-one ever took the time to explain. I had to google it afterwards to understand if it was the condition Deedee had.

Whilst nemaline myopathy was suspected following an earlier muscle biopsy, all Deedee’s blood tests and genetic testing showed negative results. Her case went back and forth between different teams across Europe, including a research team at Southampton, and Helsinki, Finland.

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.

Day-to-day life with Deedee

Despite working full-time both me and my husband care for Deedee together in our own little bubble. We know her so well – what she does and doesn’t like – what to do if there is an emergency. We just don’t feel comfortable leaving her with anyone else, as we’ve had some very close calls previously.

When you have a life like this, you realise how much you change. I used to be someone who never really stood my ground or argued with anyone. But 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.

Receiving support

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.

The research that Muscular Dystrophy UK funds is really important. But also, the support they can offer to people like Deedee. Like the £2,500 equipment grant we received, which helped purchase arm supports for her specialist chair and standing frame. This made such a difference and we are so grateful for their help.

Giving something back with the 249,000 step challenge

I decided I wanted to raise money to help fund research into Deedee’s condition so set myself a challenge to do 249,000 steps in one month. I’m almost at the end of the challenge now, averaging around 9,000 steps a day during May, through runs or walks with family and friends.

Every step I took was to support vital research into nemaline myopathy.

Muscular Dystrophy UK is funding the Nemaline Myopathy Natural History Study at Oxford University, contributing to research that is essential for understanding how the condition progresses and laying the groundwork for future treatments and therapies.

The number 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 this gave every single step a powerful connection to the research it supports.

Having the kids by my side on some of the walks wearing their charity t-shirts was everything. Deedee’s big brother, Nathaniel, 7, is her biggest supporter. Even when she does the tiniest of things he champions her. It’s been a real family affair.