Each year, Rare Disease Day takes place worldwide on the last day in February. The main objective of Rare Disease Day is to raise awareness amongst the general public, the healthcare industry and decision-makers about rare diseases and their impact on patients' lives.
Why is Rare Disease Day so important?
Estimates vary, but the number of rare diseases the medical community has identified might exceed 7,000! A rare disease is defined as affecting fewer than 1 in 2,000 people in Europe and fewer than 200,000 Americans at any given time.
It is common that primary care physicians either do not recognise specific symptoms or don’t make the link between common symptoms and a rare disease. As a result, the patient journey to an accurate diagnosis can be long and difficult. For people living with a rare disease, their quality of life is typically greatly affected by the chronic, progressive and frequently life-threatening nature of the disease.
Rare Disease Day raises awareness and encourages the healthcare industry and decision-makers to understand the needs of those living with rare diseases.
Treatment for rare diseases
Whilst there is generally no cure for a rare disease, there have been huge advances in treatment options.
The goal for first generation treatments was survival, but second generation treatments are now helping patients live a more ‘normal’ life and enjoy a better quality of living. And just last year, we saw landmark breakthroughs in advanced genetic therapies, such as viral mediated gene transfer and CAR-T therapies.
Today, thankfully, infants with rare diseases can often live much longer and grow up to enjoy the milestones of life through childhood, adolescence and adulthood.
Clearly treatment can be life-saving and life-changing. However, the lack of awareness around rare diseases, and the diagnosis challenge, still remains. And, as patients live longer, this creates whole new challenges to make sure they receive the level of care they need.
What are the challenges and how can they be addressed?
At Ashfield we are passionate about working with our pharmaceutical company clients to help address some of the key challenges of rare diseases.
40% of rare disease patients are misdiagnosed at least once*. The difficult journey to the right care increases stress for the family as well as medical and economic burdens. Rare Disease Day itself and disease-specific, multichannel awareness campaigns are key to addressing this challenge.
The objectives of these campaigns are to:
- Raise awareness of the symptoms with patients/families and encourage them visit to their primary care doctor and ask the right questions.
- Initiate faster referral from primary care doctors to experts in diagnosis and treatment.
Patients and their families need a lot of information and support to deal with the physical and psychological impact of their disease and treatment. To meet their needs, we need to:
- Make it relevant!
- Talk to patients to understand their experience and continue to get their feedback. Understand that their needs will change as they transition from early childhood, through to adolescence and adulthood.
- Work with writers who are expert in both the therapy area and writing for real people. The information is often complex, but it can be broken down and visualised to be easily understood.
- Work with health psychologists to help address issues such as fear, stress, a lack of confidence and treatment misconceptions.
- Tailor the format (e.g. video, brochure or website) and the message to the audience. For example, in haemophilia, treatment compliance is particularly challenging for teenagers, especially if they’ve taken preventive treatment from an early age and never experienced symptoms. Clearly, the best format and messages will be different to the parents of a young child recently diagnosed.
- Make it interactive. Whether it’s through an app, a questionnaire or a diary, look for opportunities to engage the reader and they’ll be much more likely to remember the message.
Hands-on intensive support
Patients often require more hands on support (around treatment, emotional impact and adherence) than healthcare providers can deliver.
A patient support programme can be designed to give each patient and their family the level of support they need and on the channels that work for them e.g. face-to-face visits, phone calls, text message and email.
Highly-trained, specialised nurses can make a huge difference to a patient’s experience and their outcomes of treatment by providing:
- Training on treatment administration
- Advice on managing side-effects
- Support using health psychology techniques shown to help patients cope
- Someone at the end of the phone to answer questions and talk through concerns.
Demonstrating cost-effectiveness and safety
With new therapies, lifetime cost of treatment is getting higher and it is difficult for payers to predict total costs. The bar for demonstrating cost-effectiveness and product safety is high – and if it isn’t met, patients won’t get access to new treatments.
Collecting, reporting and publishing real world data on the right things will help meet the evidence needs of payers, regulators, health technology assessment bodies (HTAs), healthcare providers and patient groups. For example, patient reported outcomes (PROs) will enhance a product’s value proposition by showing how the treatment impacts things such as quality of life, physical function and psychological impact.
It is also critical to collect information about a product‘s adverse events under everyday conditions and to understand any rare or yet not known potential side effects and interactions.
Collaboration between HCPs
With so few centres of excellence for rare diseases, and by their nature, much fewer patients it’s critical to enable knowledge sharing, networking and collaboration between HCPs across a country and worldwide:
- Develop expert-led medical education programmes in order to contribute to professional development with unbiased, trustworthy information and patient cases.
- Use a variety of formats (e.g. traditional classroom-based sessions and on-demand webcasts) so that doctors can fit learning programmes into their hectic schedules.
- Provide networking opportunities and an online communication platform so that doctors can easily share experiences and learnings. After all, there are always new situations faced by rare disease patients and their doctors. For example, with congenital coagulation factor XIII deficiency, FXIII is also required to maintain pregnancy; specialised management is now needed for women surviving to childbearing age and beyond.
Want to find out more?
If you’re interested in how Ashfield can help you improve the lives of people living with rare diseases, please contact Matt Brierley, VP Medical and Scientific Services or Nagore Fernandez, Head of Patient Services for EUCAN.