Update on All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions

Hi, my name is Farhana and I am the Public Affairs Manager at Genetic Alliance UK. My work is primarily focused on running the Rare Disease UK (RDUK) campaign, which brings together people with an interest in rare diseases.

RDUK aims to improve the health and quality of life of those living with a rare condition including very rare and undiagnosed conditions.

In 2016 SWAN UK and RDUK worked closely together on a number of projects and the result has been fantastic! At the start of the year we published a patient experiences report which included the stories of a number of SWAN UK families. By identifying the common issues facing families affected by rare and undiagnosed conditions, we can push health services to address these issues to improve care and treatment.

SWAN UK member and Parent Rep for North Yorkshire, Lisa Beaton, who featured in the report, shared her experience of having a child with an undiagnosed condition at the RDUK AGM (undiagnosed.org.uk/news-events/news/lisa-talks-atrare-disease-uks-agm). This was a reminder to the rare disease community that some conditions are so rare that they may never be identified or receive a name.

In February the SWAN UK community was absolutely committed in its efforts to help establish the All Party Parliamentary Group (APPG) on Rare, Genetic and Undiagnosed Conditions. This resulted in a whopping 41 MPs joining the APPG! It was only right then, that the first project that the APPG would undertake, would be on undiagnosed conditions.

The APPG investigated the experiences of families who have received a diagnosis via genome sequencing. As genome sequencing becomes quicker and cheaper with every passing week, receiving a diagnosis through sequencing is a reality for many families. Once again, we worked with a number of SWAN UK families who took the time to share their experiences and come to Westminster to talk directly to MPs and Peers.
Once the investigations were completed, we worked with the APPG to produce a report that makes a number of recommendations to improve the experience of patients and families who have their genome sequenced. For example, the report calls for medical professionals to manage expectations when patients receive genome sequencing. Often families don’t know what to expect, or what the implications are when receiving a diagnosis from genomic studies such as Deciphering Developmental Disorders (DDD) and 100,000 Genomes Project or what results will mean – adding further confusion to an already difficult situation. We also called for more support for families who have been diagnosed through these studies.

In May 2016, the report was launched at an event in parliament, and the then minister in charge of rare diseases, George Freeman MP, received the report. SWAN UK member Sarah Oakes, mum to Joel, spoke about her experience of being affected by an undiagnosed condition. Sarah’s talk was vital in highlighting to MPs and other officials that we are talking about real people not politics. You can read Sarah’s speech here: undiagnosed.org.uk/news-events/news/joel

We’re really pleased to have had the support of SWAN UK families and we are especially grateful to all the families who have helped make these projects a success, we’re sorry we can’t name you all, but please know that you have made a huge difference. Thank you!

This year, there will be many opportunities for RDUK and SWAN UK to work together, and right now, you can help us to establish a Cross Party Group on Rare, Genetic and Undiagnosed Conditions in Scotland and Wales (like an APPG but the Scottish and Welsh equivalent). Just keep an eye out for the ways in which you can do this by reading the monthly SWAN UK E-News as well as visiting the SWAN UK Facebook page. This will help us to keep issues that are important to our community high on the political agenda.

If you want to know more about any of the above, or have any questions, please just drop me an email: [email protected]

You can also visit RDUK’s website: raredisease.org.uk

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