In celebration of MPS Awareness Week and Fabry Awareness Month, we hosted a special evening in London focused on the future for those living with MPS, Fabry and related conditions.
The event highlighted recent breakthroughs in research and innovation while looking ahead at how collaboration can turn progress into meaningful and lasting change.
It was wonderful to bring together patients, families, clinicians, researchers, volunteers and supporters, all connected by a shared commitment to help families live a rare life better.
Hosted by Sophie Thomas, Senior Head of Patient Services and Clinical Liaisons, the event featured an expert panel comprising:
Prof Simon Jones, Consultant in Paediatric Inherited Metabolic Diseases
Prof Derralynn Hughes, Professor of Experimental Haematology at the University College London, Director of Research and Innovation at the Royal Free London
Dr Fiona Stewart, retired Consultant in Clinical Genetics
Bethanie Pentecost, Head of Support, MPS Society
Sheela Upadhaya, Consultant to the Life Sciences Industry
Toni Mathieson, CEO Nieman Pick UK
Together, they shared their insights on the significant advances being made in research, treatment and innovation, while also reflecting on the challenges that still lie ahead.
Here, we have collated some of the core statements from the evening:
The bone marrow transplant was a really big milestone, but also having a patient organisation. The ability to disseminate information to families, so they didn't have to accept what someone told them. I think those two go hand in hand. And we should also add enzyme replacement therapy.
Dr Fiona Stewart on milestones in rare disease research so far.
There's also the difficulty in clinical science having the capacity to undertake rare disease clinical trials, which are often very complex and there are often very slow processes in setting up trials, which means families wait too long. We want trials to be available quicker and also to be available to everyone.
Toni Mathieson explains some of the difficulties of accessing clinical trials.
Another challenge is that actually everybody's different. So people may have the same diagnosis, but they are very different. Therefore, trying to do things in a standardised way in a clinical trial is really challenging.
Prof Derralynn Hughes describes the barriers of clinical trials.
Random chance diagnoses that we've all had to live with, that's not good enough. And actually, they're all too late because the disease has advanced and caused irreversible problems.
Professor Simon Jones stresses the devastating impact of late diagnoses.
The research landscape, it's really active and it's fantastic. But in order for that research to then translate into real practice and be available, regulators need to be able to licence those therapies and licence them quickly.
Sheela Upadhaya demystifies the role of regulatory bodies.
Participation in life is crucial for quality of life, for well-being, for feelings of self worth and self confidence. We're not seeing people as a condition and a diagnosis.
Bethanie Pentecost highlights one of the key drivers in supportive care.
There is progress, but we are not moving fast enough yet. We know earlier diagnosis changes lives, we know research is advancing and we know collaboration works. But too often, the systems around all of this are still catching up.
Summarising statement by Sophie Thomas.
The evening was also shaped by members of our community. Liz closed the panel discussion reminding us of the power of collaboration which drives breakthroughs, improves care and ensures that no one faces a rare condition alone.
We were also delighted to catch-up with Sam and his wife Leah who commented:
We loved being in the same room as so many inspiring people. It felt like one big family and I learnt so much. We both love the vision and how hard everyone fights for people affected. Through all the struggles we face, we know there’s help out there and it’s amazing.
The evening was organised by our brilliant fundraising team. Anna, Head of Fundraising, reflects:
The event felt like a genuine reflection of the progress we’ve made and the determination that’s still driving us to do better. Thank you again to everyone who attended and contributed to such an inspiring evening. Your support truly makes a difference.
