Rare diseases

Fighting Blindness – Working to address the unmet medical needs of those affected by rare and inherited disease

It is not rare to have a rare disease.

A rare disease is a condition that affects no more then 5 in 10,000 people. And while individually these conditions seem rare, collectively they are very significant. In fact, it is estimated that over 280,000 Irish people will be affected by a rare condition in their lifetimes.

As a patient-led medical research charity, our first priority was the advancement of research for an unmet need. As you will see in other articles, we have done much to advocate at national and international level to enable the advancement of research infrastructures that we hope will expedite the search for cures and treatments for sight loss. The benefits of a strong, focused medical research community are well documented: social benefits in better health outcomes from patient involvement in clinical trails, therapies emerging from research and the economic benefit through the contribution to the knowledge-based economy.

When Fighting Blindness was established in 1983, our membership was primarily made up of people affected by genetically-inherited conditions such as retinitis pigmentosa (RP), Usher syndrome, Stargardt disease and Leber congenital amourosis (LCA). These conditions are considered rare. As our research expanded, what our researchers learned through the development of research in rare retinal disease had an application to more common diseases such as age-related macular degeneration (AMD) and diabetic retinopathy.

What become clear to Fighting Blindness was that all of the work being done by our gifted and ground-breaking researchers, all of the funds raised by you our supporters and our members would mean little if access to emerging therapies was somehow denied. This issue remains uppermost in our minds and is the cornerstone of much of our advocacy work.

This issue has been tackled in part by the development of an orphan drug regulation in Europe in 2000. The regulation, based on the US and Japanese regulations of 1983, applies particularly to the area of rare conditions (what is an orphan drug – link missing here). This was to incentivise biotech companies to invest in the development of therapies for rare conditions where benefit may be derived for a small group of people and so under normal market conditions it would not be a worthwhile investment for industry. The orphan drug regulation has ensured that over 10,000 therapies for rare diseases are now approved by the European Medicines Agency and patients have access to life changing treatment.

The issue is becoming more pressing for us working in the area of retinal research development, particularly as we are in an era of significant advancement and are aware of potential therapies emerging. And so Fighting Blindness has worked nationally through GRDO, MRCG and IPPOSI and internationally with EURORDIS and EPPOSI to address the very particular issues of those affected by all rare diseases. A united voice has helped our cause, and we are developing a national plan for rare diseases.

Rare disease is an area of health that brings added value to the concept of the European Union. As there may be only pockets of people affected by a particular disease in some member states, collectively the numbers gain strength. We also work with groups from the United States, Canada and South America. The globalisation of the issues underlines how the issue of rare diseases brings people together like few other areas in the health sector.

In Europe we work with EURORDIS to provide a vital platform for active participation in advocacy for the many issues affecting those with rare diseases on a daily basis. Tools are provided to members to educate and encourage them to make their voices heard in what is by nature a complex debate. Fighting Blindness was the first Irish group to hold a position on its board of directors and currently we hold the vice presidency.

Through policy development and better communications we have seen much change in the perception, understanding and awareness of rare disease, and as a collective we have made huge progress. Rare diseases are now a public health priority, which in turn has enabled significant progress. The EU commission recommendation on rare disease states that all member states will have a national plan for rare diseases in place by 2013. Some countries are working on this, some already have a plan in place and some have enacted their second plan.

Through GRDO, Fighting Blindness was appointed by the Minister for Health at the time, Dr James Reilly, to a steering committee of stakeholders to develop criteria for an Irish national plan by the end of 2013. A coordinated approach to the treatment of rare diseases and care plans saves on money, time and resource, so implementing these plans is a sensible approach.

Despite the huge financial struggles of our times, there has been much innovation in the area of research and the development of therapies. Some therapies may be at an early stage but are going in the right direction, and the possibilities for deriving benefit are very real. This work needs to be supported, and so while state and EU funding becomes much harder to access, charities like Fighting Blindness must work harder to fund and support the furthering of such important work.

In so many cases now we know what these therapies will look like – we know how they will be administered and the supports that will be needed. The development of these therapies will not only change the lives of our members who so desperately need treatment, but will also change those of the behind the treatments and the millions throughout the EU who will share in the economic benefit that innovation brings.

Now is the time for us to enact the many policies that will ultimately allow access to emerging technologies for rare conditions. Yes, this will be challenging, but that is why we must work together now and speak with a collective voice.

In 2010, a conference in Dublin’s Farmleigh House attended by stakeholders including patients, clinicians, researchers, industry representatives and policy makers looked at what should be contained in a national strategy for rare diseases. A link to the Irish Europlan Report is here.

On July 3, 2014 the National Rare Disease Plan for Ireland was published, read about the launch of the plan here.