What are rare diseases, and what impact could they have in your workplace? While many well-known illnesses are recognised and adjustments can be made, uncertainty often surrounds a rare disease. The diagnosis of a rare disease can have a huge impact on the person with that disease and their families. Inevitably, this has implications for employers, many of which may not be aware of what exactly a rare disease is.
This article seeks to help build a better awareness of the challenges surrounding a rare disease diagnosis – and is also written to support the annual Rare Disease Day, taking place on February 28th.
As we will explain, an adult employee might have a diagnosis, but often it’s the children of employees who have a disease and their families live with the impact. It’s something where better understanding from colleagues and employers can be a big help.
What is a rare disease?
A rare disease is individually uncommon (affecting fewer than 1 in 2,000 people) and requires special, combined efforts to enable patients to be treated effectively. There are over 7,000 different rare conditions, with 80% having a genetic origin, but as few as 200 of these diseases have effective treatments. Collectively, over 3.5 million people in the UK live with a rare disease, affecting about 1 in 17 individuals at some point in their lives. Some of the rarest of diseases may only affect one person in the UK at any one time. A significant proportion (around 70%) of rare diseases affect children, and sadly, over 30% of affected children die before age five.
The long route to diagnosis
For many, being diagnosed with a rare disease can be a long and frustrating search for answers that may last for years. In many cases, so little is known that individuals and parents are left to do their own research into their symptoms and then piece together the medical support they need. Research cited by Rare Disease UK has found that the average rare disease patient consults five doctors and waits four years before receiving a final diagnosis. Some diseases are so rare that symptoms are often not understood or wrongly attributed to another condition. When the diagnosis is incorrect, so is the treatment along with the wasted time.
When a correct diagnosis is finally made the patient, and their families, then move onto what happens next – which may mean treatment or coming to terms with the fact that nothing can be done. For anyone working while all of this is going on, whether they are the one with the disease, or a carer or parent of someone else, the experience can be all consuming and highly disruptive. It’s an emotional as well as a medical journey – but employers have the potential to make a much needed positive impact.
The workplace challenges of rare diseases
People often don’t know the condition they have; they may even struggle to describe their symptoms – they only know something is wrong. The employee will experience periods of absence, time off for medical appointments, reduction in productivity and the need for team members to often pick up additional work.
Employees who have children with a rare disease experience significant stress due to anxiety, lack of support, feelings of isolation and loneliness, stigmatisation and difficulty in receiving the appropriate healthcare – if at all. This can understandably create problems with productivity, mental health, absence and their effects in the workplace.
While much of this is going on, an employee may choose not to talk to their employer or colleagues. For them it can be a deeply personal and worrying time that they may feel they’d rather keep private. And some don’t feel they could talk to their employer even if they wanted to, perhaps for fear of job security. This can often mean that the employer is left in the dark, unable to help and possibly attributing any performance issues to other factors.
The difficulty in identifying the exact diagnosis creates uncertainty – which makes it hard to be sure that the employer is offering the most suitable adjustments and interventions. And even if a diagnosis is made, care may involve different consultants in different hospitals with all the disruption that comes with this.
Why employers need a rare disease strategy
It’s plain to see that those with rare diseases face significant challenges – as do those who care for someone with a rare disease. Despite the disruption a rare disease diagnosis causes, employment is not only a financial essential, it also offers a lifeline to a sense of fulfilment and normality and as such is beneficial to mental health.
What’s more, without employer support and understanding at work, employees may leave their role to stay at home full-time. That’s not only bad for their mental health and sense of self-worth, it also risks losing valuable skills and sends a poor message about a lack of inclusivity and support. There is also a legal requirement to support employees. Rare diseases need to be recognised, and staff supported as part of an organisation’s duties within the Equality Act 2010.
Setting a policy and approach to rare diseases
In the research for this article, we discovered the Rare Aware Charter. It’s a pledge by organisations to create inclusive, supportive environments for people with rare diseases, spearheaded by the UK based Same but Different charity, focusing on awareness, better understanding, and practical support in workplaces and communities.
We believe that the suggestions in the charter serve as a template to create a policy to address rare disease understanding – and the actions needed to put that into place. Here’s the outline of the charter:
Rare Aware Charter – Supporting those affected by rare diseases
“We understand that those who are affected by a rare disease or who care for a person with a rare disease need an inclusive working environment and more flexible working hours to: “
- Deal with a distressing diagnosis
- Attend various hospital appointments
- Care for a sick child or close relative
- Receive treatment
- Feel valued and reduce stress and anxiety
We agree to:
- Follow the ACAS best practice disability guidance, considering formal and informal flexible working patterns and offering paid or unpaid leave.
- Show support and understanding and ensure staff have a greater understanding of the impact of rare disease.
- Encourage awareness and educate colleagues by sharing information about rare diseases and by holding a Same but Different exhibition in the workplace (if possible).
- Remove barriers to discrimination and create a supportive workforce.
- Appoint a colleague as a Rare Aware Champion to liaise with Same but Different.
Conclusion
Rare diseases impact in the workplace is far from rare. With around 1 in 17 people affected at some point in their lives, most organisations will employ someone who is living with a rare condition or caring for someone who is, making empathy, flexibility and understanding essential. Line managers play a crucial role, as compassionate leadership and practical adjustments can make a significant difference to an employee navigating uncertainty and emotional strain. By taking a proactive approach, whether through a formal policy or by adopting principles such as those in the Rare Aware Charter, employers can support employee wellbeing, retain valuable skills, meet their legal responsibilities and foster a genuinely inclusive culture.
About Rare Disease Day
As Rare Disease Day on 28 February reminds us each year, by recognising the realities of rare diseases and responding with empathy, employers can build workplaces that are more humane, more inclusive and ultimately more sustainable for everyone. Find out more at: https://www.rarediseaseday.org/
