07377 091552 info@raccuk.com

Rachel Rimmer

Founder and Chair​ | Patient - Diagnosis in 2003 with HIDS/ MKD with heterozygote N205D/ T114 frameshift

Welcome to RACC- UK. 

My name is Rachel and I am the Founder of the organisation.

In 2003, I was diagnosed with Mevalonate Kinase Deficiency (MKD). This is a rare Autoinflammatory condition that affects approximately 300 people worldwide. I have had symptoms from birth and doctors spent 16 years considering other possible diagnoses such as Rheumatoid Arthritis, Crohn’s Disease etc. before considering genetic testing for MKD. Due to its rarity and complexity, it’s very difficult to manage. There is little knowledge and understanding of these conditions here in the UK, so I require specialist care from the Fever Clinic at the National Amyloidosis Centre in London.

Receiving my diagnosis was a rollercoaster ride really due to its complexity. As a result I have spent most of my life feeling isolated, and not being able to share my frustrations with other patients. After coming across other UK patients, it was evident that there were some specific UK issues regarding genetic testing, reaching a diagnosis and accessing treatments. In 2019, RACC – UK was awarded Charitable status to bring people together and improve the lives of UK patients with these rare conditions.

My advocacy began around 2009 when I was invited for an interview with Professor Woo at Great Ormond Street, London. Here, we discussed my diagnosis and it’s overall impact on my life, the stresses and strains on family members as well as social events and friendships.

In 2014, I graduated from Oxford Brookes University with a Batchelor of Arts, Upper Second Class Honours Degree, in Early Childcare Studies. Following my degree, I was elected by  former Vice President in a Students’ Union. There, I gained experience of advocating on a large scale, influencing and implementing policy as well as creating and delivering a Mental Health based campaign. Throughout my former role, I was also a trustee of the organisation. I know that my skills in my previous role will enable us to develop this organisation effectively and accurately.

[The EURORDIS Leadership School launched in March 2019 to provide ePAG (European Patient Advocacy Group) advocates with the knowledge and expert skills needed to be valued partners in European Reference Networks (ERNs).]

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