Back in 2017, I was gifted the opportunity of a lifetime to enter Parliament as an MP and represent the people of Blaydon. I knew what I was going down to fight for. In the North East, we often see common issues arise that must be addressed if we are to better the lives of all.
However, my work in parliament so far has allowed me to engage with a much broader and more complex range of issues than I could have imagined.
One such issue is rare diseases. Today, we acknowledge Rare Disease Day, a unique opportunity to highlight the impact that rare diseases have on so many.
In truth, rare diseases are not so rare. Collectively, there are 6,000 rare conditions affecting over 3.5 million people in the UK – that’s 1 in 17 people. What’s more, these communities face a range of common yet complex issues in managing their conditions. This includes waiting many years for a proper diagnosis and once diagnosed, difficulties in accessing treatment and support. I am currently working with the All Party Parliamentary Group on Muscular Dystrophy to make progress on newborn screening and faster diagnoses.
I was first introduced to the rare disease community when my constituent, Barbara, got in touch to discuss the difficulties she was having in accessing treatment for her son, who has Phenylketonuria (PKU).
People with PKU cannot break down the amino acid phenylanine, which is found in proteins. They must live on strict low-protein diets in order to avoid brain damage.
A drug, then known as Kuvan, was licensed to treat PKU. However, when Barbara came to me, it was not yet available on the NHS.
We set up the All Party Parliamentary Group on PKU to press the Government to make the drug available. It is one of my proudest achievements as an MP that, in 2021, people with PKU were finally given access to this drug on the NHS. I have heard from many affected families about the lifechanging effects that this has had on them.
Still, this drug is not a silver bullet. Kuvan does not work for all people with PKU. This is why research into treatments for rare diseases is so important, to allow everyone affected to pursue healthier and more fulfilling lives. I now chair the All Party Parliamentary Group on Rare Diseases, who work together tackle the collective issues faced by the whole rare disease community.
Of course, the issue is quite often funding.
In November last year I visited the Welcome Centre for Mitochondrial Research based in Newcastle University. I was blown away by the incredible and inspiring work they are doing.
Mitochondrial disease, or ‘mito’,’ is the term for a group of medical disorders caused by ‘faulty’ mitochondria, which generate about 90% of the energy that we need to live. These disorders can be very serious or even fatal. Furthermore, faults in mitochondria are the root cause of hundreds of other conditions including cancer, Parkinson’s, epilepsy, dementia and strokes.
One in 200 people in the UK carry a faulty mitochondrial gene. Currently, there is no cure.
Newcastle’s Mito Research team are internationally recognised, world leaders in their fields. They are also fully committed to patient care, with strong links to clinical practice. Through these researchers, our region is leading the fight against mitochondrial disease and dysfunction across the globe.
But investing in the research is critical to the success of the whole operation. Researchers like the Mito team in Newcastle often rely on short-term grants, making it difficult to build the long term projects that would deliver the seismic change needed.
I urge the Government to extend their role within this field and work to place funding for rare disease research on a secure footing.
This research is not only vital for the 1 in 17 people affected by a rare disease in the UK, but for the millions of others dealing with conditions as common as cancer who stand to benefit from medical advances. That’s why this Rare Disease Day, I am working to shed light on this important issue.
