Genetic and Rare DiseaseS in Ireland – an interview with Anne Lawlor
Lade Adeusi UCD School of Medicine and Medical Science, University College Dublin, Belfield, Dublin 4, Ireland
The Genetic and Rare Disorders Organisation (GRDO) acts as a national alliance for voluntary groups representing the views and concerns of people affected by, or at risk of developing, genetic or other rare disorders.
ANNE LAWLOR is the Information & Development Officer at the GRDO, as well as the founder of ‘22q11 Ireland’. The GRDO often works closely with Irish medical schools including UCD, and have given presentations as part of the Rare Diseases module in the School of Medicine. This interview outlines some of the great work that GRDO and 22q11 Ireland are doing for patients with rare and genetic diseases.
→ What is your role at GRDO?
I am the information and development office, so essentially I share information. As much as I can to as many people as I can. I am particularly interested in parents and families and what happens to them when they have a child diagnosed with a rare condition.
→ How did you start working with GRDO?
I have an adult daughter who is now 32 years old. She was diagnosed with 22q deletion syndrome when she was 15. I quickly realized that 22q11 was a relatively rare condition. To find help for it would mean to go out and talk to other people who had some experience in the area of genetic and rare disorders, so I joined the GRDO itself and actually sat on the board for a while. There was no staff at all at that time.
I think the level of genetic awareness in Ireland is very low amongst the general population and amongst a lot of healthcare providers.
The board was made up of interested parties in the field of rare diseases who were all working in their own separate areas but who wanted to bring the awareness of rare conditions more to the forefront and to develop policies. In 2011, GRDO got a small amount of funding for the community and voluntary government department, enough to employ a part time information officer. Two years ago the post became vacant and I resigned from the board to take up the position. So that’s what I do. I’m also the chairperson of the 22q11 support group in Ireland.
→ Is the area of genetics and rare diseases always something you wanted to work in?
No! I knew nothing about it and I have subsequently become totally immersed in and fascinated with the whole area. I don’t think we realize how important our genetics and family history are in terms of our own lifestyles, its an extraordinary area. I have become wholly fascinated with it both through my personal experience with my daughter, and with the work that I do for GRDO.
→ What types of legislation are you working on that would help people with rare diseases in Ireland?
Well one thing that we’re proud of is the Rare Disease Task Force. It is a combination of people and representatives of various different organizations; Cystic Fibrosis, cancer, Alpha 1, Huntington’s, Debra Ireland, lots of different organizations who came together to develop policies in the area. The other thing that we’re very proud of is that the Ireland Rare disease plan was published in 2014. Our focus now would be on the implementation of that plan.
→ What do you think is the largest challenge facing patient advocacy groups as they try and help patients navigate the healthcare system?
The largest challenge I think is the lack of awareness of genetics. I think the level of genetic awareness in Ireland is very low amongst the general population and amongst a lot of healthcare providers. We don’t have what we would consider a robust genetic service. In fact, we have a genetic service that currently has one of the worst staffing quotients in Europe. So there are lots of things, I don’t think I could give the biggest challenges, there lots of challenges. There is lack of awareness, lack of resources, lack of understanding that genetics are actually a pivotal part of healthcare.
→ What would you say the biggest issue is that people with genetic and other rare disorders face in Ireland?
Again, I would say the lack of awareness. My own personal experience is that once you are diagnosed with a genetic or rare condition you are mostly on your own. There are so many of them, there are over 8,000, so no clinician is going to know all of them, its not possible. Generally, it falls to the patient or the patient’s family to go out and get the information for themselves. Very often we find that patients and parents are actually educating the healthcare providers about their specific condition.
→ How has being a parent of a child with a genetic disorder changed your perspective?
Well I wouldn’t have had a perspective really because I would have been like most people. Genetic and rare disorders are an alien term unless we bring them into the general language, and unless we use them in the daily discourse. I think unless you’re particularly in those fields, you’re not going to be too concerned about genetic and rare disorders. It’s like everything else, its not until something that comes onto your own doorstep and into your line of vision that you take an active interest in it.
→ Please tell me a little bit about your work with 22q11 Ireland.
22q11 Ireland came about when I got my daughter Aine’s diagnosis of DiGeorge syndrome. I was told it was because of this deletion on her 22nd chromosome. The doctors did some basic checks on her and that was it. There was no follow up, there was no support. There was very little in the way of information and this was pre ‘Dr. Google’. It took me quite some years to get information that related to living on a day-to-day basis with a genetic condition. It was easier to get medical and clinical information.
It’s a very isolating place to be when you get a diagnosis like that. For many years after her diagnosis, maybe 7 years, there was nowhere for me to go and I remember going to my first international conference on 22q11. I was totally taken aback at the complex nature of this condition. It is so variable, it reaches into every aspect of a person’s life; physical, mental, social. There are a couple of things that stand out from that first conference, and one was that I met only one other Irish person out of 400 attendees. He was a psychiatrist with a particular interest in schizophrenia. If you are born with a 22q deletion you have a 30% higher chance of developing schizophrenia than a person in the general population, on top of the many other medical issues that go with the condition.
I think that if they have a better understanding of the complex nature of genetic conditions now, [medical students] will be much better at interacting with these patients throughout their career.
I came back home to Ireland and then I went to a conference closer to home in the UK and they had quite a substantial following over there for their support group and they were quite well established. I met an Irish couple there from Cork and I asked them if they would think about setting up a support group in Ireland. We set one up in 2007 with three families and that same psychiatrist, Professor Kieran Murphy. In 2015 we have 140 families in the support group with children of all ages.
Every year I hold a national conference, and we have had the international conference here in 2013. In 2017 we will be hosting the second European 22q conference. We are quite excited about that. We have also gotten involved in research and our latest collaboration is with Trinity College in the School of Education. Children with 22q have quite significant learning disabilities.
I think perhaps the greatest challenge for me as the person running the support group is that 22q is an ‘invisible condition’. You won’t necessary know straight away that a person has 22q, so its quite challenging, both for me as the chairperson and as a parent personally with my daughter. I do a lot of work, I speak to medical students both in UCD and Trinity College and I’ve co-authored some publications on 22q. I am also not only interested in the deletion, but there is also a 22q duplication. I now have a broader interest in chromosomal conditions.
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