Geraldine Kelly – Determined to be a Strong Voice
Alpha-1 Foundation Ireland was founded in 2001 by Professor Gerry McElvaney a renowned respiratory consultant and world expert in Alpha-1 Antitrypsin Deficiency. The Foundation has a clear vision which is that every Alpha-1 individual in Ireland is diagnosed and receives specialist care and treatment in a timely fashion.
In 2004 a national screening programme was established and is funded by the Department of Health in Ireland. This targeted detection programme is the only national screening programme for Alpha-1 in the world. We follow World Health Organisation (WHO), American Thoracic Society (ATS), and European Respiratory Society (ERS) guidelines. The team is small consisting of myself as CEO of the Foundation, Chief Scientist, Tomás Carroll and a Research Assistant, Laura Fee. The science team manage the programme using the latest diagnostic methodology. They also perform research in the area of Alpha-1, coordinate clinical trials and run Consultant, GP and hospital workshops to raise awareness of the condition throughout Ireland. Importantly the team liaise with the Alpha-1 clinical team, as well as patients, GPs, hospital laboratory staff, and respiratory and liver specialists throughout Ireland in an effort to reduce the under diagnosis and misdiagnosis of Alpha-1. There is one initiative which would make a big difference to the detection of Alpha-1 and it is the implementation of national guidelines for COPD so that testing for Alpha-1 takes place automatically for every person diagnosed with COPD. It is one of the most common respiratory diseases in Ireland and affects people over the age of 35. Around 110,000 people in Ireland have been diagnosed with COPD, but it is thought that there are about 200,000 people living with the disease who have not been diagnosed.
I joined the Foundation as CEO in July 2017 having worked in the private sector for 35 years of which approximately fifteen years were spent in senior leadership roles. Unlike a number of the Alpha-1 Country Leaders I don’t have Alpha-1 and none of my family members have Alpha-1, so I don’t have the personal experience of this genetic condition to help me understand the fight and strength needed to survive many of the health challenges that it brings. I am confident that my experience will benefit the Foundation and I am determined to be strong in my representation of Irish Alpha’s. I was always interested in working for a charity and was overjoyed when this opportunity presented itself and I was successful in getting the job. I hope my experience, determination and commitment make me a valuable and successful contributor to the team.
My role has many dimensions from working with the team locally on the development of good operating standards for the patient registry and screening programme, to providing support and information to Alpha-1 patients and their families, to establishing and developing strong relationships with politicians, the media, government officials, statutory voluntary bodies and private organisations to advance the Foundation’s goals. To help raise the profile of Alpha-1 Foundation Ireland, I am a key member of the rare disease network in Ireland. I work closely with organisations such as the Medical Research Charities Group (MRCG) of which I am a Board member, the Irish Platform for Patient Organisations, Science and Industry (IPPOSI), the Irish Lung Health Alliance, the Rare Disease Taskforce, Irish Donor Network and COPD Support Ireland. I also work closely with the Alpha-1 patient action group which promotes understanding and awareness of the condition among patients and their families, as well as providing much needed peer-to-peer support for newly-diagnosed Alpha’s.
I was surprised at how quickly I became involved in the advocacy aspect of the role which gives me huge satisfaction. I replaced the previous CEO, Kitty O’Connor in July 2017 during a difficult campaign for access to treatment for Alpha-1 patients. Within my first two weeks in the role I presented to the Government Committee on Health on the issue of funding for Augmentation Therapy called Respreeza. It was certainly a baptism of fire, but there is no doubt it went a long way to preparing me for what was to come over the next one and half years. This is one aspect of the role which is proving challenging as there is no approved treatment for Alpha-1 in Ireland. It means our goal of providing effective treatment for Alpha-1 patients cannot be realised. Although Respreeza was approved by the European Medicines Agency in July 2015 it has yet to be approved for reimbursement by the Health Service Executive (HSE) in Ireland.
The story began in 2006 when 21 patients entered a clinical trial for Respreeza. When the trial ended in 2010 they remained on the treatment under a compassionate use programme set up by CSL Behring, while awaiting a decision to approve the reimbursement of the therapy. To date this has not been achieved. For the last year and a half huge effort has gone into a campaign by the Foundation and the patient action group lobbying politicians and working with national media and press in an effort to get the therapy reimbursed. During November 2018 an agreement was reached to continue to provide the therapy to those who were on the compassionate use programme but not the wider group of Alpha 1 patients. Although it is a relief for these particular patients who will now have access for the rest of their lives it is hugely disappointing for all other Alpha-1 patients. The topic of access to medicines is a highly emotive topic, not just for Alpha-1 patients but for all patients suffering from rare disease in Ireland as there is a very complex process for medicines approval which seriously needs to be improved.
An organisation called IPPOSI is currently leading the way supported by a number of rare disease patient groups, including Alpha-1 Foundation Ireland, to push for policy changes which will improve the process and thus increase access for patients who need treatment.
Over the coming 12 months I will continue to campaign for the full reimbursement of augmentation therapy. I will focus on opening up communication again with the National Centre for Pharmacoeconomics (NCPE), our Department of Health and the Health Service Executive to get full reimbursement approval for all Alpha-1 patients who need this treatment. Ireland is a small country with a population of almost 5 million so funding medicines is a real challenge for our Government. In June 2018 Ireland joined the BeNeLuxA initiative to negotiate more affordable access to medicines. It is important to close the gap between European and Irish patients by working to ensure that Ireland ranks “Better than Average” in terms of access to medicines in Western Europe. Working with many other rare disease organisations, our aim is to influence the European Parliament through our MEP’s to implement policy changes for a European wide solution and price structure for orphan drugs.
We hold a patient conference each year in October which is a great opportunity for our Alpha-1 patients to meet up with old friends and for new Alpha-1 patients to get to know about the Foundation and what we are all about. We choose a theme and invite guest speakers along to speak on relevant topics. We provide updates on research activities and Professor McElvaney is always happy to talk about new developments in the research and pharmaceutical world. It is a great day full of good information and informative discussions.
The Foundation has been very successful in the creation of a patient registry, which currently has over 500 participants. Developing a funding strategy to enable us to further expand our registry capability with the addition of a user interface will take the project to the next important stage. The registry data is already helping us with research projects and we know will be crucial in helping to identify suitable candidates for new clinical studies. We hope to capture greater socio-economic data through the user interface.
We all appreciate how critical research is and in our case how important it is to Alpha-1 patients, and so their involvement in research projects is a huge contributing factor
to success. The Foundation fully supports Public & Patient Involvement (PPI) in the project life cycle. The Foundation has been successful in receiving a research grant for a project which will be led by Dr. Emer Reeves, Royal College of Surgeons Ireland. The plan is to expand our Scientific Committee to include a number of patient representatives. Their input will make for a more solid and fruitful research project.
I am really enjoying my role and have made some great friends and developed strong bonds with many of our patients. It is easy to get out of bed every day knowing that your main aim is to help and support such a great group of people and work alongside a brilliant and professional team. I will be attending the 7th Global Alpha-1 Patient Congress next year in Dubrovnik and hope to meet many of you there where we can share our challenges and celebrate our many successes.