Last week our CEO, Kirsty Hoyle, spoke at the Manchester Rare Disease Showcase hosted by Beacon for Rare Diseases. Her talk centred on what it really means to live with a rare condition inside a system that was never designed with small, diverse patient populations in mind, and why organisations like ours must play an active role in reshaping that system. Her message was clear and powerful: change won’t happen unless organisations like ours step up and reshape the system from the inside out.

Kirsty began by reflecting on the unique vantage point we hold at Metabolic Support UK. With almost two thousand inherited metabolic conditions under our umbrella, we see the broadest possible picture: communities with long-established support structures alongside families who have nowhere else to turn.

As she put it:  “Our community is a microcosm of the wider rare disease landscape.”  

Because metabolic conditions vary so widely, in symptoms, life expectancy and treatment access they expose the unevenness of the system more clearly than most. This sets the scene for understanding where inequities come from, and why they persist. Kirsty highlighted that “inequity is not just a moral failure, but a scientific failure”. These inequities are structural and scientific, embedded in the way the system currently operates.

“People with rare diseases face disadvantages that simply wouldn’t exist if their conditions were more common.” 

She encouraged the audience to look beyond comparisons within the rare community and instead examine the larger systems that shape the experiences of all rare disease families.

• Regulation and access to information: Current frameworks can restrict what families are allowed to hear about treatment development, creating an information gap that patients must fill alone.“Families shouldn’t have to become full-time researchers just to access the basics.”
• NHS funding priorities: With most NHS funding focused on preventable conditions, rare diseases consistently receive fewer resources, slower progress and less visibility.
• Barriers to critiquing the NHS: The NHS is often treated as a ‘sacred cow’ and its’ structure, financing and operations outside of reasonable criticism, making open and honest conversations about rare disease care difficult, even when communities are struggling.
• Lack of rights awareness: Many newly diagnosed families don’t know what the Equality Act entitles them to and are reluctant to exercise their rights or demand more equitable access treatment and can, instead,operate on a gratitude model; feeling grateful that they have any service atall.  “We need to move away from a gratitude model, and towards empowerment.”
• Inequity within the patient organisation sector: Differences in funding, networks and capacity mean some conditions receive far more attention than others. The sector also leans heavily on unpaid parental labour, usually from mothers, creating further imbalance.
• Limited inclusion in national planning: Rare diseases are notably absent from the NHS Ten Year Plan. Genomics is progressing, but the everyday realities for rare communities remain largely unaddressed.