Meet the Metabolic Advisory Council (MAC)

Meet the MAC

Metabolic Support UK has an expert group of people with experience of Inherited Metabolic Disorders. This group inputs on our work to ensure we’re truly reflecting the needs of the people we work to support.

This isn’t our full MAC…we’re just waiting on people’s lovely pictures and bios so check back soon for our full membership.

Keen to improve the experience of patients with rare diseases...

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. 

Life is short and you gotta make the best of a bad situation...

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 these I never thought I would since the diagnosis. 

Using the experience of caring for my daughter to support the MSUK team...

I am Ali and I have a 10 year old daughter called Poppy who was diagnosed with the urea cycle disorder Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH syndrome) in 2015 when she was 2 years old.

As a result of her condition Poppy is on a protein restricted diet and takes medication three times per day. We have faced many battles and struggles with Poppy’s condition including getting an initial diagnosis. 

Raising awareness amongst the public and medical professionals...

Hi! I’m Ruby and I’m interested in rare genetics, particularly urea cycle disorders as it sadly caused my sister’s death. I am very passionate about raising awareness both in public and to medical professionals, as it really is life saving work! 

I hope my involvement will offer help and support to other families...

Hi, I’m Emma, mummy 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.

I use my lived experience to support MSUK...

My name is Maria. I was born in Malta and have lived in Scotland for the past 46 years.

I am a carrier for GM1 gangliosidosis and have lost 2 sons in 1982 and 1984 to the metabolic disorder. My 2 biological daughters are both carriers of the condition. Hence my interest in MSUK. 

I am a retired GP and grandmother to 4 fit and healthy wee ones.

Meet the team

Interested in learning more about the team at Metabolic Support UK?

Click the button below to navigate to our “Meet the team” section of the website!

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