Hi, I’m Emily, a trained as a musician and completed a BMus at the University of Birmingham followed by a Postgraduate Diploma in Performance at Trinity College of Music, London.

About a year after completing my studies, I became very unwell and had to move home to live with family. I spent the next seven years unable to work and searching for a diagnosis.

It was eventually discovered that I had an inherited metabolic disorder, Methylmalonic Acidemia (CblA type) which unusually didn’t present until adulthood. 

Once diagnosed and treated, my health improved to the point where she could work full time, live independently, and start a family. I now works for the Royal National Lifeboat Institution as a Data Governance Analyst. 

I am is passionate about the fact that no one should have to go through such a long journey to diagnosis and is keen to improve the experience of patients with rare diseases in any way that I can. I am is a member of the Metabolic Support UK Advisory Council and a Patient Ambassador at Medics4RareDiseases. 

My names Jake and I live with Hypophosphatasia, diagnosed almost 4 years ago. I like to be cheeky and have a laugh – after all life is short and you gotta make the best of a bad situation.  

Being proactive towards my condition and getting involved with MSUK has meant I’ve been able to achieve things I never thought I would since the diagnosis. 

Hi, I’m Emma, mum to Sebastian! Sebastian has Trifunctional Protein Deficiency (TFP) and after a very rocky start, he is currently doing great.

He attends mainstream school and is a happy little boy. Navigating your way through a complex diagnosis for your child and then learning to live with a very rare condition is a tough journey.

I hope my involvement with the MAC will offer help and support to other families who might be going through the same thing, and I hope to be able to offer valuable patient insight into potential new and developing treatments.

Hi I’m Laura Linford, ambassador working with MSUK and patient advocate for Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD). I have 3 children. My eldest son, Alex 14, has VLCADD and my second child, Jack 2yrs who sadly passed away during 2014 also had VLCADD. Scarlett 7, is not affected.   

I started my VLCADD journey when Alex was born in 2009. Since then I have made contacts around the world offering support and advice where I can as a parent. My aim is to continue to raise awareness and help others get through some tricky times. 

Hi! I’m Jay, a proud cat parent and a PKU patient currently studying for a PhD. My research explores bioethics and the medical humanities through lived experience and sociological perspectives. I believe that people living with rare conditions have invaluable knowledge to contribute, and that the best healthcare comes from genuine partnership between patients and professionals.

Living with a lifelong metabolic condition has shown me both the transformative power of medicine and the importance of being heard. Those experiences inspired me to pursue academic research and advocate for greater patient involvement in healthcare, ensuring that lived experience is valued alongside clinical expertise. I’m passionate about improving equity in healthcare and helping create a system where every patient has a meaningful voice in the decisions that affect their lives.