As a parent you never want your child to be ill. And when they are, you want to help them in whatever way you can.
But what if you’re powerless to do anything? What if your child has a condition that will eventually leave them in a wheelchair – and the only medicine that could help is agonisingly out of reach?
My four-year-old daughter, Matilda, is gorgeous, happy and bubbly. She loves princesses, is excelling at school, and dreams of being a doctor when she grows up.
But I fear for her independence when she’s older. That’s because Matilda has a rare genetic condition called spinal muscular atrophy (SMA) Type 3, which means that – without treatment – she’ll ultimately lose the ability to walk.
Matilda sees other children at school doing things that she isn’t able to do and asks, ‘Why can’t I do that?’.
When other children run off in the playground and she can’t keep up with them, she wants to know why she has ‘wobbly legs’.
Recently, she even asked me whether her babies will have SMA. As a parent, it’s heartbreaking.
There is a glimmer of hope: a treatment, called Spinraza. It is available in 24 European countries, as well as the USA and Australia, and can help children like Matilda have a better quality of life.
But it’s not available in England, Wales or Northern Ireland, because it hasn’t been approved for use on the NHS.
It’s absolutely devastating that there is a drug out there that has shown to be effective, but is out of our grasp.
Can you imagine being able to walk one day, and then having that taken away from you?
Worse still, can you imagine being denied a treatment that could keep you mobile? That’s the situation we, and other families, find ourselves in.
Since she started school last year, Matilda has grown and her body has struggled to adapt to her new weight.
As a result, she is struggling more with mobility. But I believe that, if she had received treatment last year, she wouldn’t be having these difficulties now.
It would mean the world just to see Matilda feel confident with standing on her own feet for more than a minute-and-a-half without wobbling and falling.
Spinraza could help her have a normal childhood, but it could also give her more independence when she is older.
It would allow her to do things for herself as a teenager and as an adult.
We know she is always going to be disabled, but this is about her keeping her dignity.
Standing up from the toilet, climbing up some steps or picking something off the floor are small things that people take for granted. But for Matilda, it could make a huge difference.
Today – on Rare Disease Day – I want people to know that there is a treatment that can help my daughter and others with the same condition.
Above all, I want people to know that sufferers are being denied these treatment.
From April, Spinraza is due to be made available in Scotland for children like Matilda, and for adults with the condition, too. The same needs to happen here.
According to Rare Disease UK, one in 17 people will affected by a rare disease at some point in their life – but there is no cure for the majority of these.
And of the 7,000 rare diseases that have been identified, only 400 have a licensed treatment in Europe.
As a family, we won’t lose hope. We will continue to fight alongside charities like Muscular Dystrophy UK who have been campaigning for Spinraza to be approved by NICE – the body that assesses new treatments.
And we continue to fight for our daughter, because she deserves the best possible future.
What is Spinal Muscular Atrophy?
SMA is a genetic condition, which leads to muscle weakening and can cause the body to become less mobile.
Symptoms of SMA include:
Problems with moving
Difficulty breathing and swallowing
There are four types of SMA, depending on age, and these vary in severity.