“I’ve never heard of that condition before.” In this blog, Hugh explores what it means to live with a rare disease and why organisations must ensure that inclusion does not depend on how easily someone fits the form.
When I was assessed for Personal Independence Payment, the first thing the assessor said to me after reading my application was, “I’ve never heard of that condition before.”
I did not take offence. Rare diseases are rare. But that sentence has stayed with me because it neatly captures what it feels like to live with one.
Living with the Unpredictable
Limb-girdle muscular dystrophy (LGMD) is complex and, at times, counterintuitive. I can walk for 20 minutes more comfortably than I can stand still for five. I can ride a power-assisted bike but struggle to hold a phone to my ear for more than a minute. On a good day, I can get out of a chair without support, something clinically I shouldn’t really be able to do.
PIP is rightly assessed on the basis of impact rather than diagnosis. I agree with that principle. The difficulty is that impact does not always present in neat, predictable ways. Explaining fluctuating, contradictory or poorly understood symptoms in a form designed for clarity and consistency is not straightforward.
When I go in for my annual check-up, even specialists cannot always give definitive answers. LGMD has many different genetic causes, each potentially requiring a different treatment pathway. Promising gene therapies are often discussed, but timelines are uncertain. Where funding is tight, the smaller the patient population, the harder it can be to secure sustained research investment. Living with a rare disease often means living with ambiguity.
When Systems Meet Complexity
This is why I advocate so strongly for proactive and individualised approaches to disability inclusion in the workplace. Not only because some of us have conditions you may never have encountered before, but because even within the same diagnosis, experiences differ significantly. Two people can share a condition and require entirely different adjustments.
Diagnosis is not a shortcut to understanding someone’s needs. Policy is not the same as support. And black-and-white processes can struggle to accommodate the reality that disabled lives, including my own, are complex and nuanced.
On Rare Disease Day on 28 February, I do not expect anyone to become an expert in LGMD. I do hope, however, that organisations reflect on whether their systems are flexible enough to respond to individuality. Who might be poorly served by rigid criteria? Whose needs are harder to articulate? Who may be quietly deprioritised because their condition affects fewer people?
Rare should not mean marginal. And inclusion should not depend on how easily someone’s body fits the form.
This blog was written by Hugh O’Keeffe, Inclusion Lead at Onvero, and posted on 20 February 2026.