BEYOND THE LEAP: EXPLORING RARE DISEASE

February 29th — that rarest of dates, steeped in traditions and superstition going back to Roman times. For the past 16 years, it’s also a day marking something very real indeed — it’s Rare Disease Day.

Rare Disease Day is a global initiative to raise awareness and generate support for people with Rare Diseases and was first launched by EURORDIS (the European Organisation for Rare Diseases) in 2008. Since then, it has grown into a global movement — «a collective voice championing the cause of the 300 million people living with rare diseases,» as it describes itself on rarediseaseday.org.

In a nutshell, The EU defines a disease or condition as ‘rare’ if it affects fewer than 1 in 2000 people within the general population. 1 in 17 people will be affected at some point in their lives by uncommon diseases for which there is no current cure. Some of the more familiar names include Ehlers-Danlos Syndrome, Sickle Cell Anaemia and Cystic Fibrosis but in truth, there are over 7,000 Rare Diseases according to the National Institutes of Health. The statistics relating to Rare Diseases are stark — 300 million people worldwide suffer from them, 250 new ones are described annually, 72% are genetic and 70% are paediatric.

There are many diseases, about which knowledge is rare, research limited and care offerings inadequate. The diseases are debilitating and the quality of life for both patients and caregivers suffers drastically. Rare disease patients are the orphans of health systems, hence, they’re also known as Orphan Diseases.

A Rare disease may affect only a handful of patients worldwide. The road to diagnosis can be long, with many false steps along the way — most doctors simply don’t recognise Rare diseases, taking a patient along a ‘diagnostic odyssey’ to try to identify their problems. Because these diseases affect such a small number of people, research funding and other resources may be limited — as can interest in researching a treatment, much less the methods for testing potential drugs.

Expense is another huge factor to be considered — R&D and production of treatments is resource intensive, sometimes taking years and years, requiring specialised techniques, sophisticated equipment, new technology, international red tape and frustrating trial and error. R&D expenses from orphan drugs must be recouped from a sometimes tiny pool of patients, resulting in prohibitively high drug treatment costs per person.

It’s clear that in order to make any headway for patients suffering with these rare diseases, that help is required when it comes to affordability.

Recent progress of interest comes with the approval of Libmeldy, a treatment for the most severe cases of a rare genetic nerve cell disorder called metachromatic leukodystrophy (MLD). At €2.5 million per dose, it has been called the most expensive drug to receive official endorsement in European countries. Patients in Ireland, Belgium and the Netherlands, however, will benefit from a lower price negotiated directly with manufacturer Orchard Therapies under the Beneluxa Initiative. According to Irish state broadcaster, RTÉ, the final price reduction estimates vary from 25 per cent up to around 65 per cent in some cases.

MLD affects between one in 40,000 and one in 100,000 people in Europe and North America, with a poor prognostic outcome for patients diagnosed. According to the EMA, Libmeldy is used in children with the infantile to juvenile forms of the disease, modifying stem cells to express the correct gene, and reintroducing them into the patient’s blood stream in a one-time dosage that aims to provide a permanent solution.

It’s a real example in action of how cooperation can give hope to patients who perhaps felt they had none, a sentiment reinforced by Frank Vandenbroucke, Belgian Minister of Health and Social Affairs who released a statement saying; «By working together across national borders, we can make vital medicines available to patients. To improve their lives, to save their lives.»

This Rare Disease Day, we can all play a part in starting a conversation and raising awareness of orphan diseases and their impact on sufferers, carers and society as a whole. 106 countries worldwide are part of the initiative, hosting over 600 events worldwide. www.rarediseaseday.org contains valuable resources and also a specially-commissioned video, Voices From Around The World, showcasing the diverse experiences of the rare disease community.