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What can rare disease services learn from oncology services? A personal reflection

By Michelle Conway, freelance health policy consultant and rare disease specialist at CRD Consulting Ltd

Receiving a diagnosis of any life-limiting or potentially life-threatening condition creates a sense of fear, shock and even disbelief. The fear for what the future will hold and the journey that lies ahead, the shock of the diagnosis and what that means for you and your loved ones and the disbelief that this is happening to you. These are just some of the feelings our family have experienced recently on receiving the news that our mum had received a diagnosis of cancer. However, I understand these feelings are not unique to me and my family or indeed to those diagnosed with cancer.

In this article, I am going to reflect on my mum’s very positive journey from diagnosis to treatment so far and consider how and if we can take learnings from these established services to improve the approach to managing rare disease.

The terms rare disease and cancer are both umbrella terms to describe a huge number of different conditions. Rare disease is the term used to describe any condition affecting less than a defined number of people, and cancer is a term used to describe any condition where there is abnormal and uncontrolled growth of cells in any part of the body. Several cancers are also defined as rare diseases, due to the very small numbers of people affected.

It is interesting that both terms are used to describe what are essentially a collection of different conditions and yet cancer is a term we are all too familiar with in society, whereas rare disease is somewhat unknown to many people outside the rare disease community.

Perhaps this familiarity is what sets the two umbrella terms apart in how they are diagnosed, managed and supported.

Table 1. Comparisons between rare disease statistics and cancer statistics

Rare diseaseCancer
A condition affecting <200,000 Americans1 or 1 in 2,000 individuals in Europe2A condition where cells in any part of the body grow and reproduce uncontrollably3
>3.5 million people living in the UK with a rare condition*43 million people in the UK living with cancer5
~7000 different rare conditions4>200 different types of cancer3
80% of rare diseases are genetic in origin4Between 5–10% of cancers are a result of inherited faulty genes6
1 in 17 people are affected by a rare disease in their lifetime41 in 2 people are affected by cancer in their lifetime3
People with rare diseases are often reliant on searching online for information about their diagnosis and treatment unless there is a dedicated patient organisation for their condition7Everyone diagnosed with cancer can access the Macmillan Cancer Support Line in the UK for advice and support on all aspects of their diagnosis and treatment8

*this will likely include rare cancers

“You’ve got cancer”

Hearing those words is something that everyone fears: we all know someone who has had cancer or who has died from cancer. Ultimately cancer is something that as a society we are all too familiar with. We are all aware of statistics such as those from the World Health Organization, attributing cancer as a leading cause of death around the world9.

However, in our experience, this fear was rapidly followed by information, referrals, appointments, treatment and an overwhelming amount of love and support from those around us. Organisations like Macmillan Cancer Support, Cancer Research UK and Marie Curie, to name but a few, are all on hand with advice lines, information and support services, and we knew where to turn for help in understanding the diagnosis.

Within two days of being given the news, my mum had a named oncology specialist nurse allocated, whom she could contact at any time with questions and concerns; a diary of appointments across her multi-disciplinary oncology team, all coordinated by her oncology nurse; an appointment at the local Maggie’s Centre, where advice and support about all aspects of her upcoming treatment was available, and she had been provided with a clear plan for her upcoming treatment and surgery.

I could not help but reflect on the stark contrasts between this experience and the stories I have heard so many times throughout my time working in rare disease, where a diagnosis leaves people lost and uncertain. What does the diagnosis mean, what is my prognosis, how will it affect our lives? These are questions that unfortunately may not be so readily answered.

Instead of information overload, often people are left trawling the Internet; sometimes they are lucky to find a patient support group but frequently they are left navigating their own way through. Family and friends may never have heard of the condition and feel they do not know how to help or what to say. This lack of information and support can lead to feelings of isolation alongside the stress of having to chase down appointments and coordinate care across all the various healthcare professionals who often know less about the condition. The worry already existing at such a difficult time must be hugely exacerbated.

Policy learning

While reflecting on the different experiences, I started to question whether there are ways to take learnings from the cancer care model? Undoubtedly I am not the first person to have thought about this, and in fact I previously held the position of interim CEO of the Rare Disease Nurse Network, an organisation that has the ambition to be the Macmillan of rare disease. Its founder, Kay Parkinson, could see how this model of coordinated care and support could enhance the care and support for people living with a rare disease.

However, like with many of the services and support organisations in rare disease, funding continues to be a challenge. The financial climate over recent years has certainly not helped and with services facing budget cuts and the need to deliver policy intent at zero cost to the system, streamlined and coordinated care in rare diseases may be a challenge.

It is clear that the policy intent to improve rare disease care and outcomes exists. If we want to deliver against this intent within the current fiscal environment, perhaps we need to draw on learnings from other disease areas and other governments around the world. Policymakers and service providers need to look at what already exists, what they can learn and how they can partner with the right stakeholders to deliver improved outcomes. In my previous columns, I have shared examples of great work from the Rare Care Centre in Western Australia and the work of the SWAN Clinic in Wales.

So, what do we need to learn from these services to make them attractive to policymakers and ensure they become part of routine service provision for our community? I firmly believe that we need to understand the cost-benefit to the NHS of providing services like these. Every policymaker wants to know what something is going to cost. It is not enough to say we think something will save money in the mid to longer term, we need to be able to prove it. We must however be cognisant of the fact that providing such data may also highlight additional costs to the system as well as showing opportunities for cost savings.

Similar work has been completed in the past for cancer care. The Department of Health published “The likely impact of earlier diagnosis of cancer on costs and benefits to the NHS” in 2011.10 This work highlighted that, overall, a strategy that drives earlier diagnosis and treatment can increase NHS costs but improves outcomes and is cost-effective.

Cancers and rare diseases have an impact beyond cost to health. They impact on people’s social life, employment status, social care support needs and requirement for state support. We need to measure the cost benefits of existing services that consider all these aspects of a person’s needs and use these learnings to push for the sort of upfront investment now that has the ability to save money for society in the longer term.

Let’s look at the cost benefits of providing adequate care and support, similar to that experienced by my mum on her cancer journey for rare diseases. Let’s show that these services can improve the experiences of our community, the outcomes they achieve and the longer term costs to our society.

We need to learn from existing policies and services and take a whole of government approach to rare disease policy, considering the cost benefit to improving healthcare on all other services our communities rely upon.

About Michelle

Michelle Conway trained as a nurse, before moving from the NHS to the pharmaceutical industry, where she held multiple roles from nurse specialist to regional market access manager. Michelle discovered a passion for rare disease when working with a biotech organisation to launch a product for an ultra-rare disease. She then supported the company with the launch of several ultra-orphan medicines before setting up as a freelance consultant.

With experience across multiple roles in the biotech and pharmaceutical industries, Michelle has expertise in market access and policy work. Michelle supports projects requiring strategic guidance, expertise and knowledge relating to the policy surrounding improved outcomes in rare diseases and market access for medicines for rare cancers and orphan medicine launch-planning.


  1. List of Rare Diseases | A-Z Database | NORD
  2. What is a rare disease? | EURORDIS
  3. What is cancer? | Cancer Research UK
  4. Facts and figures | Genetic Alliance
  5. Cancer prevalence | Macmillan Cancer Support
  6. Inherited genes and cancer types | Cancer Research UK
  7. Rare Disease UK Good Diagnosis Report 2022 | Genetic Alliance
  8. Cancer Information Nurse Specialist | Macmillan Cancer Support
  9. Cancer fact sheet | WHO
  10. The likely impact of earlier diagnosis of cancer on costs and benefits to the NHS | Department of Health

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