Mr. Tony Heffernan:

I am Tony Heffernan and I am founder of the Saoirse Foundation. It a national charity which focuses on proactive advocacy, is an investor in Batten's disease and rare disease research and focuses on delivering positive practical supports for those affected by rare conditions.

The Saoirse Foundation is also actively involved in the development of Liam's Lodge which is a national respite and palliative care facility for children affected by rare, genetic and life limiting conditions. In addition, the foundation provides specialised transportation services for children via its BUMBLEance service which provides an ambulance that has been specifically designed for children. It is a service that is accessed weekly by children affected by rare and life limiting conditions.

During my time as the patient support and empowerment representative on the previous Minister for Health's national steering group for rare disease, I was also chairperson of the patient and support subgroup. The subgroup worked with the additional steering group and task force members on the development of our first plan which was launched in July 2014.

Personally, my wife Mary and I know the full impact a rare disorder can have on a family.

As the parents of two children, Saoirse and Liam, both of whom were diagnosed with Batten disease, an ultra-rare genetic neurological condition, we know only too well the challenges of going through the system with a rare disorder in the family. The costs to us, personally, have been immense and cannot be measured, as we laid Saoirse to rest in January 2011 at the age of five and our boy, Liam, joined his sister in May last year when he was also five.

The national rare disease plan for Ireland will only ever be as good as its implementation. Each year, we celebrate international rare disease day on the last day of February, and this day should and will also need to focus on the community affected here in Ireland and in bringing more public and more state awareness on rare disease. As has been mentioned, this affects between 6% and 8% of the population during their lifetime. Such a significant number of the population has not received the appropriate acknowledgement and focused attention it deserves within the health service, social care and education systems of this country. Individually each rare condition is, by definition, rare but, collectively, it is very common to have a rare condition.

As my colleagues from the rare disease task force will acknowledge, it is important to have a co-ordinated approach and strategy into developing research, technologies, therapies and collaboration for rare disorders. However, we must not forget the practical elements which need to improve and support those living with the conditions right now. Timely prevention and diagnosis of rare disorders is essential. Without accurate diagnosis, appropriate screening programmes and targeting of diagnostic tests, patients and families cannot access effective treatment and therapy or manage the condition and symptoms appropriately. That would give such people empowerment.

Even with the better-known conditions, there is a serious impact on the quality of life on the family unit, with increased stress, anxiety and financial burdens imposed just because a loved one has a rare disorder. This has serious implications for a person's life expectancy and quality of life and often results in an inefficient use of HSE resources. We need early diagnosis, with critical eyes from GPs and other care providers. We also need awareness of guidelines with regard to genetic conditions; more genetic counselling; empathetic diagnosis and follow-on support for the family unit that is currently lacking; automatic provision of information on conditions and symptoms, with specific referrals for rare disease support groups if available; access to information about treatments, research, therapy and third-party support, which may include clinical trials; and acknowledgement of the patient’s and carer’s expertise, which deserves respect and recognition from professionals.

The psychological issues encountered by those with a rare disorder range from the need for early assessment or educational assessment, as well as psychological interventions at different points in life. People and families with a rare condition can often feel isolated. Mental health issues can arise, affecting the patient, the family and carers. There are strong arguments to initiate an automatic procedure for access to a psychologist for the family and the person when a rare disorder is diagnosed. More effective use of the Internet is required, with the development of a credible source of information specifically needed. Online support groups or phone contacts can also be essential for those who experience social isolation due to lack of transport or carers, and for those who do not have a specific rare disorder support group. Our research with Trinity College, Dublin, indicates that the Internet offers people with the same rare disorder, for which there may not be a representative patient organisation, the possibility of accessing credible information and in establishing online support networks. However, this process needs to be managed correctly, with good oversight and governance.

Some ultra-rare conditions do not have access to any specialist centre or specific support group so the difficulties of lack of information, expertise and support are heightened. Overall, there is a lack of support for rare disorder patients with their medical and non-medical issues. Additionally, patient support services will need to have the ability to react urgently for some rare diseases, such as life-limiting, progressive degenerative and neurological conditions, which can cause drastic changes in the patient’s well-being and care needs. I witnessed this twice with my two children, and the system does not react fast enough. Specialised social and support services for many sectors of society affected by more common health conditions have proven to be very successful and beneficial in improving the quality of life for those affected. Within the rare disease community, the overall availability of such services is severely limited, with less than a handful of the more common rare conditions receiving a similar level service. Cystic fibrosis is an example.

The national rare disease plan identifies the need for the development of specialised social support services on a national and community level for those affected by rare conditions, which includes patients, family members and carers. However, the strategy on how to deliver these services is not known at present. Residential respite care facilities are currently limited in capacity and under enormous pressure, and there is a significant urgency in invest in new strategically located infrastructure across Ireland to provide respite care, appropriate long-term care and, where necessary, palliative care services. One of the most important and critical purposes of respite care services is to give family members time and temporary relief from the stress they experience while providing extra care for a family member affected by a rare disorder.

Therapeutic recreational programmes encourage social and personal development. In some instances the combination of a number of therapeutic programmes with respite programmes can bring added benefit for the patient and the family. Many rare disorders are life-limiting, as we have mentioned, and can lead to many young patients not making it to adulthood. Approximately 80% of all rare disorders are of a genetic nature, with 60% of those affected by rare disorders having a significantly reduced life expectancy. The majority of those affected by rare disorders are children, and 30% of children do not reach past the age of five years. When palliative care services are required for children, it is already and emotional time for the family and carers alike, and additional support services should be provided during this time. The development of procedures and policies, consistent with best practices, should be improved for children affected by rare disorders. I urge the committee, the Government and the State agencies to support the development of new initiatives, such as our own Liam's Lodge facility in Kerry, which will serve Munster and the mid-west, and be a national centre for respite.

For those affected by rare disorders, particularly those who have the possibility of longer life, social integration, including educational development, should seamlessly integrate into the patient’s daily life and support their psychological and educational development. The systems must revolve around the patient and not the other way around. Those diagnosed with a rare disorder, their parents, carers and relatives are very frequently left in difficult positions with regard to employment and financial security. This is primarily down to no legal framework protecting the rights of those individuals to maintain employment or benefits due to delays in access or availability of services and support from the State. Some social frameworks exist around educational and early intervention services but access to these services is severely limited for persons with rare disorders, and particularly within the educational system. I acknowledge that this is outside the primary focus of this committee but it is members' responsibility and that of their colleagues that proactive steps are taken, as the correct result will have a positive impact on the health of the patients and family members.

The first national plan for rare disease for Ireland is an important step in the right direction. The successful implementation of the plan will require a well-structured strategy and a set of integrated, comprehensive policy actions to be developed, so as to reach the objectives and 48 recommendations outlined. It will also require a clear focus on best practice guidelines when considering clearly defined policies and protocols; a well-declared timeframe, with declared objectives and goals; new and effective changes to legislation; defined stakeholders and responsibilities; and constant monitoring and evaluation of the implementation process. I suggest this should be supervised by an oversight committee. There should also be allocation of appropriate instruments and resources; identification of opportunities and appropriate European or international partners in development, collaboration and co-operation with respect to cross-border responses to some rare disorders; and the creation of centres of expertise.

A clearly defined management of change process is highly recommended and thorough analysis is also required to identify present resources and existing shortfalls. The services of the State should be benchmarked with our European counterparts. It is also of the utmost importance to ensure that those rare disorder patients currently receiving care, services and support are provided for during the transition from where we are now to where we must be before the second plan is published in 2019. As Dr. Devlin indicated, it is a five-year plan. The stakeholders of the oversight committee must include the previous members of the steering group at a minimum.