Ms Vicky McGrath:

My name is Vicky McGrath and I am interim CEO of Rare Diseases Ireland. We are the national alliance for voluntary patient-led organisations for people affected or at risk of developing rare diseases in Ireland. We are committed to the identification, treatment and cure of rare diseases. Today, I am joined by Mr. Philip Watt, chair of the Rare Disease Taskforce and the Medical Research Charities Group and CEO of Cystic Fibrosis and Dr. Derick Mitchell, CEO of the Irish Platform for Patients, Organisations, Science and Industry.

Orphan drugs are defined as medicines that prevent or treat rare diseases. There are an estimated 6,000 to 8,000 rare diseases that we know of with more being described. Collectively, rare diseases may affect up to 8% of the population. It is estimated that rare diseases affect 300,000 people in Ireland during their lifetime. Rare diseases have a significant impact on our citizens and an associated economic impact on our society. A recent survey across Europe revealed that more than 70% of people living with rare diseases have difficulties with daily activities, motor and sensorial functions and social interaction. A total of 30% of carers spend more than six hours per day on illness-related tasks. Over 95% of primary carers are family members with the vast majority being women. A total of 70% of patients and carers had to reduce or stop their professional activity due to the disease. There is a significant mental health burden with rare disease patients and carers being three times more likely to feel depressed compared to the general population.

Orphan drugs provide an opportunity to improve lives considerably or even cure disease. During 2017, the members of this committee met with two Irish rare disease patient organisations - the Alpha One Foundation and Muscular Dystrophy Ireland. During these meetings, members heard about the challenges facing these organisations' patient communities around access to novel and life-saving orphan drugs. These medicines have been found by regulators to be both safe and effective and have been approved for reimbursement by many of our peers across Europe yet they are still not available in this country. Over the intervening 12 months, the committee has, no doubt, encountered many other patients and patient groups with similar stories. Access to life-saving and curative therapies in this country is lagging behind that of our neighbours. This situation must change. The reimbursement system in Ireland continues to fail the patients it is supposed to serve. We must take an innovative approach to reimbursement and design a system that is fit for purpose - a system that is not only suited to so-called "common" diseases but also addresses the needs of rare disease patients. Such a system will ensure that all members of our society can contribute maximally.

There are no comparative therapies for most rare diseases. In most instances, the patient will not transition from one therapy to a better one. Orphan drugs constitute the only game in town and provide the best opportunity to slow disease progression and improved quality of life. As with cancer patients, we are seeking to avail of the best therapies today in the hope of being in a position to avail of new and better therapies in the future. Many rare disease patients are not being afforded this chance at a better and longer life. We must build a reimbursement system that provides that bridge to the next therapy. We must have a system that is robust enough to address challenging decisions. We know curative gene therapies are on their way. These transformative therapies will be expensive.

We all want value for money but how does one define value when one considers the ability of an individual to walk unaided rather than being wheelchair bound for decades or the child who will have have his or her vision restored and can thus integrate normally into classroom life? What type of society do we wish to have ten years hence? Today we are on the cusp of a step change when it comes to rare disease patient care. Access to the European reference networks as a result of the EU's cross-border directive will allow rare disease patients in Ireland access to the best clinical minds across Europe. Our care will be on a par with that of rare disease patients throughout Europe. Our care pathways will be best in class and we will be provided with opportunities to enrol in clinical trials. Innovation will be at the heart of our care. However, if the reimbursement system in Ireland does not change we will fail at the final hurdle and continue to be denied the therapies we need.

We acknowledge that progress has been made over the past 12 months, but it is very slow and just too late for many patients. In recent weeks the rare disease technology review committee began its work. Patients finally have the opportunity to provide real world experience of living with a condition and the impact that a particular drug may have on quality of life for both the patient and his or her carers. We are not there to give a sob story but as experts on our diseases. More significantly, patients are often members of the committee and we finally have a seat at the table as equals. We are no longer viewed simply as stakeholders. We are decision makers within the committee and have an equal say in the recommendations that the committee will provide to the HSE leadership, where the ultimate decision around reimbursement lies.

We understand that these are very early days for the technology review committee and we caution that more time is required to bed down the processes and learn from experience. Nonetheless it has finally been recognised that patients have a valuable contribution to make to the discourse and decision making process. To build on this we seek a seat at all stages of the process, be it horizon scanning, the pre-submission consultation or the HSE's decision making meetings. We have a growing cohort of educated patients who understand the process and the decisions involved. If we do not have a seat at the table, are we just on the menu? We have no interest in recommending treatments that do not work. We do not wish to take medicines that will not work and we do not want to waste money. We believe that innovative approaches to reimbursement decisions are required. Payments based upon defined clinical outcomes, so-called pay for performance, or guaranteed access to future improved therapies should be the norm, not the outlier.

Another development in recent months is Ireland joining the BeNeLuxA initiative, which aims to ensure timely access to, and affordability of, innovative medicines. Disappointingly, since the Minister for Health signed the agreement five months ago there has been no evidence that we have made any progress.

Finally, orphan drugs are at the cutting edge of medicine. We are moving into the realm of personalised or precision medicine. Orphan drugs should only be provided to those who will benefit from them. They are not designed for the wider community or even for every patient who might have a particular rare disease. A genetic diagnosis will be required for many orphan drugs that will come onto the market. Genetic services, by which I mean consultant geneticists, genetic counsellors and genetic testing facilities, fall far short of what we need in Ireland. Waiting lists are growing by the day. Current services are under-resourced and overwhelmed. We must address this basic building block of medicine in the 21st century if we are to have any hope in the future. Genetic diagnosis coupled with patient registries will ensure that only those who will benefit from the drug will be put on the drug. Registries will also allow for post-marketing data collection, enabling the pay for performance reimbursement model to be employed.

In summary, we have three messages to deliver today. First, we must develop an all-inclusive, transparent and accountable reimbursement system that will withstand the challenges that lie ahead. We must think creatively and innovatively. We must build a system that ensures that the needs of every patient in the country are addressed. Just because somebody is the only one with a particular rare disease does not mean we are indifferent to that person's needs.

Second, we must build genetic services capacity that meets the needs of not just the rare disease community today but those of the nation. Personalised or precision medicine is not just a dream. It is knocking on our door and the only way we can take part in this revolution is by ensuring that every patient has the opportunity to know more of his or her genetic composition.

Third, we are not just a voice or even stakeholders, we are decision makers and must be allowed to take on this role in the development of our health service. Of all the interested parties, patients have the most risk. It is our health that is at stake. There is a perception among patients that the health authorities fear our input. We are not to be feared. We are the experts on our diseases and we must be involved in all decisions involving our treatment. Revelations within the health service in Ireland over the last 12 months have shown that patients must be included in all decisions - nothing about us without us. I thank the committee for its time.