The importance of ERNs: ‘Families quickly become isolated'

Louise James, parent:

I AM a parent to three children, one of whom has an incredibly rare disease, so rare that all testing has failed to diagnose him.

All we have is a variant of unknown significance and a list of symptoms of which some are serious and potentially life-limiting because so far, no treatment has been successful.

The NHS has been amazing in caring for Scott, we have spent long periods of time in hospital and taken part in pioneering research studies, such as Deciphering Developmental Disorders, which is whole exome sequencing. We are currently on the 100,000 Genomes Project, which is whole genome sequencing.

Scott’s data from these projects is of massive importance, likewise with other data from children all over Europe. What if this data carried the key to finding a drug to stop Scott’s seizures, or finds another patient with similar mutations meaning we have comparisons? It means more understanding.

What happens if we don’t have access to this information? If these networks breakdown? What good is all this amazing research if it doesn’t get shared? You see, the thing is, when something is so rare, knowledge is limited, meaning research is limited. There are probably only a few people who have any knowledge about your rare disease. Families quickly become isolated and miss out on vital treatments and care, having a detrimental effect on their health and quality of life, our life.

Thomas Smith, Rare Diseases Advocate:

WHILE the European Commission created the governance frameworks for the European Reference Networks, it is down to the co-operation of national healthcare authorities and healthcare providers to make use of them. It is the trust and interdependence of these organisations and that crucial transfer of ownership that makes them useful entities of enormous human value.

Of the 508 million citizens located within the EU, around 30m suffer with rare disease and, due to the obvious low prevalence of these kinds of illnesses, treatment can happen in relative isolation. European Reference Networks offer a unique opportunity to continue to progress healthcare on an unprecedented scale and transform the lives of those currently living with disease via collaboration. What we don’t want to happen is to create more barriers between patients and their families and diagnosis or a better health outcome. To be clear these exist currently even with ERNs and fragmenting the network through which knowledge is shared will only labour these difficulties further.

While the NHS is currently a leading healthcare provider in Europe, withdrawing our participation from ERNs will negatively affect the standard of care it is able to provide to patients with rare diseases.

Professor Faisal Ahmed, Office for Rare Conditions, Royal Hospital for Children, Glasgow:

IN Glasgow we participate in three ERNs – Rare Bone Disorders, Rare Endocrine Conditions, and Rare and Complex Epilepsies.

We, in Scotland, have been leaders in delivering care through clinical networks and it is so sad to think that in years to come we will not be in the premier league.

The central tenet to ERNs is centres of excellence delivering care through sharing of expertise as close to the patient as possible.

EU funding provides many benefits, but it is not all about money, it is about the professional clinical and academic networks that had a common vision around the care of the person with a rare condition.

We can have these networks in Scotland, but they will never be able to replace what we can currently do across Europe.

Genetic Alliance UK's Protect European Reference Networks campaign can be found via the following link: https://www.geneticalliance.org.uk/our-work/healthcare-and-delivery/protect-european-reference-networks/