Patient Insight Series – Patient Stories

We believe that sharing real life stories by real people is the most powerful way to connect with others and raise awareness about the issues facing those affected by Inherited Metabolic Disorders.

Our Patient Insight Series is a collection of personal experiences by patients and families of living or caring for someone with an IMD.  Covering important and often unseen experiences, such as coping with the diagnosis of a rare condition, to accessing specialist care services, taking part in clinical trials and much more.  Our aim is to empower patients and families by providing a platform for those affected to have their voice heard, by telling their story and sharing their personal experiences to help others facing similar challenges.

Read our patient stories here:

ALD: Michael’s Story

ALG1 CDG: Sabrina’s Story

ASA: Rory’s Story

CSID: Millie’s story

Cystinosis: Millie’s Story

GA1: Samantha’s Story

HHH: Alison’s Story

Homocystinuria: Arthur’s Story

HPP: Melanie’s Story

MCADD: Emma’s Story

MCADD: Florence’s Story

MCADD: Kate’s Story

MCADD: Rhiannon’s Story (Going to university)

MSUD: Cathy’s Story

Osteogenesis Imperfecta: Emma’s Story

OTC: Amelia’s Story

OTC: Phoebe’s Story

PA: Luca’s Story

PSP1A: Harriet’s Story

Undiagnosed: Dalila’s Story

Thank you to all our patients and families who have shared their stories.

Would you like to share your story?

By sharing your own personal experience of living with, or caring for someone with an IMD, you can make a difference by:
– Helping others facing a similar situation, to know that they are not alone
– Encouraging patients and families to get in touch with Metabolic Support UK; we are here to help
– Inspiring people to donate and fundraise for Metabolic Support UK, enabling us to continue providing our vital services.

If you’d like to get involved, we’d love to hear from you.  Please contact