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By working together we can improve the lives of people with rare diseases

By Christian Wieszner

Executive Director and General Manager, UK and Ireland

CSL Behring

 

Many people are surprised to learn that rare diseases are actually comparatively common. A rare disease is defined as one that affects fewer than one in 2,000 people and it is reckoned that 300 million people worldwide have one. More than 6,000 rare diseases have been identified and about 72% of those have a genetic origin.

Rare diseases can be severely disabling, life limiting and affect children from birth. Almost 30% of patients do not reach their fifth birthday. However, some rare diseases can be extremely uncommon. The bleeding disorder haemophilia A, for example, occurs in one 5,000 male births. Haemophilia B is five times rarer still, occurring in about one in 25,000 male births.

Rare Disease Day on February 28 brings an opportunity to focus on everyone living with a rare disease, reflect on their unique needs, and commit to doing all we can to improve their lives.

One of the symbols of rare diseases is the zebra. That’s a riposte to the medical adage: “When you hear hoofbeats, don’t expect to see a zebra”. Primary care is geared up to recognise the common (horses) before the rare and unusual (zebras).

This means patients can go through lengthy and tortuous periods of referrals, tests and uncertainty as common conditions are eliminated and health care professionals begin to distinguish “zebras” from the rest of the herd.

Sadly, that can sometimes mean sub-optimal outcomes as patients’ conditions remain undiagnosed, untreated or treated ineffectively. We still hear occasional tragic stories of patients whose condition is only definitively identified after death.

As we near the end of the first quarter of the 21st century, in one of the wealthiest nations on earth, that simply isn’t good enough.

We need to ensure that people showing signs and symptoms of rare diseases get the earliest possible access to the specialists who can make a definitive diagnosis and start them most appropriate and effective treatment.

That journey starts of course with the patient’s first conversation with their GP. It is critical that GPs are trained to be aware that, for instance, what looks at first like a common condition might actually be a rare genetic disorder requiring entirely different treatment.

Alongside this, patients need better access to holistic treatment for rare and complex conditions which can affect so many aspects of their lives from mobility to mental health. Medical specialities and services must be “joined-up” effectively and obstacles to accessing them minimised.

We must recognise that the NHS is facing more challenges than at probably any time in its history – post-COVID waiting lists, funding, and workforce issues to name just three – but the unique needs of patients with rare diseases demand focus and priority. Industry needs to continue to partner with the NHS to demonstrate the true value of innovative medicines and interventions along the treatment pathway.

When properly managed, many patients with rare diseases can lead fuller and active lives. CSL Behring’s Why Sit It Out campaign is aimed at supporting boys with haemophilia to try all types of indoor and outdoor activities from archery to football to rock climbing.

In days gone by, boys with haemophilia would have been discouraged from taking part in sport. They would miss out not just on the joy of the activity but also the social contact, fitness and wellbeing that go with it.

A survey showed that 100% of people who engaged with the Why Sit It Out campaign said it helped them overcome barriers to being active – double the target. The percentage of five to 17-year-old boys doing no activity outside of school fell from 45% to just 2%.

That’s just one example of the impact of collaboration – in this case between industry and patient group. By working more closely together all stakeholders can help to improve the lives of people with rare diseases.

 

 

https://rarediseases.org/rare-disease-day/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5072891/

https://rarediseases.org/rare-diseases/hemophilia-b/#:~:text=Hemophilia%20B%20occurs%20in%20approximately,1%20in%205%2C000%20male%20births.

 

GBR-CRP-0225 Prepared February 2022