What is being done to help those suffering from rare conditions?


The last day of February every year is Rare Disease Day, but what is being done to help people suffering from these rare conditions?

In the UK, one in 17 people will be affected by a rare disease at some point in their life. Collectively, rare diseases are actually not uncommon.

A rare disease is defined by the European Union as one that affects less than 5 in 10,000 of the general population.

According to the charity Rare Disease UK, there are between 6000 and 8000 known rare diseases and around five new rare diseases are described in medical literature every week.

In the UK, a single rare disease may affect up to 30,000 people. Some diseases will affect only a handful of people, or a single person in an entire country.

Rare diseases are often chronic and life-threatening, and can be single gene, multifactorial, chromosomal or non-genetic. They include rare cancers such as childhood cancers, and conditions such as cystic fibrosis, Huntington’s disease, Duchenne muscular dystrophy and acute myeloid leukaemia.

Rare diseases represent such a large and complex group of conditions, and affect a small proportion of the population, therefore substantial investment by pharma in developing new treatments has always been a barrier to innovation in this area.

Rare diseases actually affect 3.5 million in the UK, and a total of 27-36 million people in the EU have a rare disease. In the UK, one in 17 people will be affected by a rare disease at some point in their life.

This represents a big opportunity for pharma to meet considerable unmet clinical needs in a market with very limited treatment options, and demonstrates a need to support integration and networking among EU research, patient and healthcare organisations.

Research from the University of Liverpool in 2016 found that companies which market ‘orphan’ drugs for rare diseases are five times more profitable and have up to 15% higher market value than other drug companies.

What is an orphan drug designation?

Regulatory authorities such as the European Medicines Agency can grant ‘orphan drug status’ to a potential rare disease treatment.

In the EU, this is applied where the potential medicine is for the diagnosis, prevention or treatment of a life-threatening or chronically debilitating condition that affects not more than five in 10,000 people in the European Union, or where the medicine is unlikely to generate sufficient profit to justify research and development costs. Once authorised, the medicine is given 10 years of market exclusivity.

Accessing treatment

A 2016 report from Rare Disease UK, ‘The Rare Reality – an insight into the patient and family experience of rare disease’ surveyed 1203 UK people affected by rare diseases, representing over 450 different rare conditions. The report found that among those surveyed:

•           For many patients the day-to-day challenges of managing their condition are made worse by the absence of an effective treatment

•           In the absence of effective licensed medicines, unlicensed or off label medicines are an important route of access to treatment for rare disease patients

•           Where a treatment has been licensed for a rare condition, patients may struggle to access it due to the complexities of appraisal and commissioning processes

•           Most patients would participate in research if given the opportunity.

Reality check

The UK Strategy for Rare Diseases sets out ‘a shared six-year vision for improving the lives of all those with rare diseases in the UK by 2020’, incorporating 51 commitments that must be achieved by that year. Each UK country is tasked with taking action and developing plans to implement the strategy that best meet their own health and care systems, but will work together where required. There are discrepancies from country to country however.

For example, Ehlers Danlos Syndrome (EDS), a multi-systemic inherited connective tissue disorder, has no specialists in Scotland, but a number in England. Professor Rodney Grahame, one of the world’s leading experts in EDS, said: “No other condition in the history of modern medicine has been neglected in such a way as Ehlers-Danlos Syndrome”.

Rebecca Holmes has EDS and campaigns on behalf of sufferers. “There are several different types of EDS and, irrespective of the type, symptoms range from being life-changing, to life-limiting, to-life threatening,” she explains.

Rebecca is the Edinburgh Area Coordinator for Ehlers Danlos Support UK, and runs local support groups for those affected by the disease. She also works as part of an action group to lobby for greater awareness of EDS and increased care provision for those who suffer from EDS.

“There is a huge lack of awareness of EDS in Scotland, and perhaps even worse, a massive amount of misinformation. There are currently no specialists in the condition in Scotland. Parents whose children are awaiting diagnosis are being accused of abuse or of having Munchausen’s by proxy syndrome,” she says. “Patients are being misdiagnosed or dismissed entirely; and many are made to believe they are hypochondriacs, or that they suffer from a mental health disorder.”

Rebecca has called for MSPs to take action by getting involved in the Cross Party Group for Rare, Genetic and Undiagnosed Conditions. “We urgently need a patient care pathway for EDS. This would give medical staff the knowledge to put adequate management in place, and improve quality of life and prevent complications. Those with rare diseases are not the majority, but we do exist. And we’re really, really hurting.”

Personal story:

Zoe Gale, 24, on living with Cushing’s Disease.

Considerable weight gain, disruptive menstrual cycle, hair loss, a ‘buffalo hump’, ‘moon face’, stretch marks, a body covered in bruising, loss of muscle mass, insomnia. All of these come together to form the pretty collection of symptoms caused by the rare disease, Cushing’s disease.

At 20 I was relatively healthy and finishing my study abroad year in Madrid. Then symptoms started to surface. As I returned to university for my final year I made an effort to work out, however, this didn’t deter the weight gain. When I went to the doctor I was told, “You’re just stressed out from your final year of university”. I knew this wasn’t the case.

During my final year, trips to the doctor increased with blood tests after blood tests. Still no answers. I returned home where things didn’t get much better. The doctors had no idea what was going on.

A friend mentioned Cushing’s disease, something I’d never heard of, and told me to investigate this with my doctor. I Googled it straight away. It was a rare disease caused by a brain tumour. Surely this wasn’t happening; I was only 22.

My doctor told me I didn’t look like someone who had this disease. I showed him a picture of me before my symptoms started. That was when he referred me to a specialist in endocrinology. On my first appointment he was 99% sure I had Cushing’s disease and that this was caused by a brain tumour. There were more blood tests and an MRI scan to confirm it.

After two years of numerous trips to see five different doctors I finally had a diagnosis. I should have been scared. But just knowing what was actually wrong made me feel much better, and the fact that it was treatable – even if it was through brain surgery – was a huge relief.

It can take decades for an accurate rare disease diagnosis, so what seemed like a long road was maybe a short and lucky street compared to what other people have to go through.

Once diagnosed, I was treated within three months, at St George’s Hospital in London. The surgeon, nurses and staff looked after me with great care on the HDU – they really were incredible.

After two months my life returned to some normality. I went back to work, went out with my friends and started to feel like my life was back to how it should be.

18 months after my operation my health has improved dramatically. I still have to take steroids every day, which could be a lifelong thing, but that’s a small price to pay.

You don’t know how strong you are until you’re faced with a challenge. This would not have been as easy without my family and friends and for that I am truly grateful.

I have moved jobs and now work in the marketing department of an events company that focuses on highlighting the importance of genomics to help patients with cancer and rare diseases. I probably would not have gone for the job interview if I had not been through my experience.

Go to https://www.rarediseaseday.org/