Thomas is aged 5 from the Midlands. He was born apparently healthy at full term. He passed all of his newborn tests with flying colours. However, at 3 months it became apparent that all was not well. He was, in turn, either lethargic or screaming in pain, with some tiny seizure-type movements just starting to show themselves.

At 4 months, all hell broke loose and life would never be the same again. Following admission to hospital with developmental concerns, his seizures ramped up overnight to hundreds every day.

Our one stroke of "luck" was that, almost by chance, we were given a rapid diagnosis of his condition. Thomas has an ultra-rare and untreatable metabolic condition: a Congenital Disorder of Glycosylation (CDG-RFT1). One in a million? Actually, more like one in 250 million.

His doctors were shockingly bleak about his outlook. They doubted he would walk, they questioned whether he would have any cognition or awareness, and they declared him to be life limited. Or, in the words of his neurologist at the time: “when we talk about developmental delay in relation to Thomas, we don't actually mean delay, we mean, never going to get there”.

I listened for a while, then I stopped listening.

And so, Thomas has led the way, and I have unashamedly become "that parent". I cannot even begin to describe the shortfalls in support, the almost total lack of signposting, the absence of specialist training among NHS paediatric physiotherapists, occupational therapists and speech and language therapists. And also, I am sad to say, the ever increasing tendency to gaslight parents into believing that we are being unreasonable in requesting better support for our children.

Thomas has profound physical disabilities. He has almost no functional use of his hands and arms. He is non-verbal. He is visually impaired. His seizure disorder will always be with us. His gut struggles to function. He can not walk, crawl, or stand. Yet.

He is, however, the brightest of little buttons. He is funny, kind, loving, and ridiculously hardworking. He communicates by eye pointing; keeping his teachers in check with his cheeky comments. He is a passionate and talented budding musician, already able to read music at the age of 5. He is screwing up the rule book in all respects.

It is not possible for me to be any prouder of Thomas. This is a child who will take any opportunity we are able to offer him and make it grow wings.

So that is where you come in… Thomas needs consistent and intensive therapeutic interventions to support his physical and speech development. Thomas has worked really hard during blocks of physical therapy at the Footsteps Centre in Oxfordshire, at Very Special Children in Staffordshire, and in his conductive education sessions at NICE in Birmingham.

But we need more. Thomas is currently 5 years old. At the age of around 8, bright children with complex physical disabilities are often observed to rather give up on their motor skills, instead turning inwards to enjoy their (considerable) cognitive resources. We have a window where we can make a serious difference to Thomas' life outcomes. But we need to do it now.

I am therefore fundraising for Just4Children over the next three years, in order to do a lot more of what we are already doing, but also to visit cPotential and NAPA (both in London), where we can add in further specialist interventions, including speech support.

Without wanting to sound impossibly cheesy, Thomas is truly a gift. He lights up any space and draws everyone in. I firmly believe he can and will change the world in his own small way.

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