Professor Laurent Servais of the MDUK Oxford Neuromuscular Centre tells us how these special types of gifts have the power to change the story for future generations.
Working in this field over the last ten years has been an incredible chance. We can see many things that have changed the life of patients.
My name is Professor Laurent Servais, I’m Professor of Pediatric Neuromuscular Disease at the MDUK Oxford Neuromuscular Centre. My research is mainly focused about accelerating clinical trials and how we can make clinical trials that go faster and use less patients.
Spinal muscular atrophy (SMA) type 1 is a devastating condition, in which people present with a regression in muscle function. Muscles die before the age of two years.
The very first time I delivered a diagnosis of SMA, I was a very young intern in paediatrics and at that time we had no treatments. When we delivered a diagnosis it was a death sentence for many patients.
Now things have changed. Clinical trials demonstrated the safety and efficacy of new drugs. Patients who were previously dying are now progressing.
If I had to look back over the last 20 years probably the most impactful aspect was the newborn screening of spinal muscular atrophy. The patients who were identified six years ago by newborn screening are now six years old. They should be dead or wheelchair bound but they are walking, running and cycling around. This makes me extremely happy.
For this campaign, you need to understand how impactful you are. Not only for one neuromuscular condition but for a large group of conditions that effect hundreds and thousands of people in this country and millions around the world.
We are efficient, but there is still a huge unmet need. A key point for SMA is being able to diagnose and treat as soon as possible. If we can treat these patients at birth, before the symptoms occur then we are much much more efficient.
We can see some patients nowadays who are completely asymptomatic because they had the chance to be treated in the very early days of life.
A diagnosis of a muscle wasting or weakening condition shouldn’t define anyone’s story.
That’s why we’re funding groundbreaking research that will make long term treatments – and even cures – a reality.
For over 60 years, we’ve helped people to stay independent, grow careers and start families. We’ve come a long way, but it’s not enough.
Together, we can change the story for good. Leave a gift in your Will.
