Louise James, SWAN UK Parent Representative

My name is Louise and I am a 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.

Stephen Twigg MP, Co-Chair of the All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions and Louise James

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.

The research, expertise and knowledge within European Reference Networks are the key to helping families just like mine, potentially reaching small pockets of people across the EU.

As I talk to you now, there is a little boy called Zach. He is seven and currently in Bristol Children’s Hospital. His gastric issues are so rare here in the UK they are struggling to treat him and he is becoming seriously unwell. There is, however, a doctor in Italy that has researched and treated children just like little Zach, and shortly he will be travelling there for surgery. The follow up care will be done here in the UK, but using the expert knowledge from that doctor in Italy.

There is also a little boy called Sam. He is three, blind and has seizures that so far medicine has failed to control. He is the only boy in the UK to be diagnosed with Grin1. However, there is a big study in Leipzig that is fast leading to potential treatments. Only by comparing that knowledge widely can we get a diagnosis and treatment for everyone. That means carrying on the good work across Europe, where these networks already in place, are adding great value to the quality of life of children like my Scotty, just like Sam and little Zach, along with adults all across Europe.

Louise James speaks to the All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions

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