Meet the Board: Kirsten Johnson & Anna Arellanesová
December 2022
Following the meeting of the EURORDIS Board on 25-26 November 2022, our latest Meet the Board interview series hears from each of our directors about their long histories of advocating for the rare disease community.
Each of our Directors tell us about how they hope to draw on their own unique experiences and skillsets in supporting our mission, and their vision for EURORDIS’ growth over the years to come.
In this edition, we talk to two of our Directors, Anna Arellanesová and Kirsten Johnson, about the importance of making sure societies are inclusive of people living with a rare disease and those close to them.
Interview with Anna Arellanesová
What first led to you becoming involved in advocating for people living with a rare disease?
When my daughter was born, I knew something was not right with her. I saw it in her eyes, and I was thinking she had a message for me, and we found out what that message was two years later when she was diagnosed with cystic fibrosis. That was a great shock not only to me, but to the whole family.
I am the kind of person who wants to be active in solving or making a difference in a situation, so I immediately started to be involved with the community related to cystic fibrosis, and I soon became involved on the Board of the Czech Cystic Fibrosis Association, then the President shortly thereafter.
You know, we say that a bad experience can also bring something good, and I’m very fortunate that I have met these wonderful families and people who are related through cystic fibrosis. Not only the families, but the experts, and the whole community. We’re all very tight.
What first led to you becoming involved in advocating for people living with a rare disease?
When my daughter was born, I knew something was not right with her. I saw it in her eyes, and I was thinking she had a message for me, and we found out what that message was two years later when she was diagnosed with cystic fibrosis. That was a great shock not only to me, but to the whole family.
I am the kind of person who wants to be active in solving or making a difference in a situation, so I immediately started to be involved with the community related to cystic fibrosis, and I soon became involved on the Board of the Czech Cystic Fibrosis Association, then the President shortly thereafter.
You know, we say that a bad experience can also bring something good, and I’m very fortunate that I have met these wonderful families and people who are related through cystic fibrosis. Not only the families, but the experts, and the whole community. We’re all very tight.
You have been serving as the Chair of Rare Diseases Czech Republic since 2014. How did you become the Chair of this organisation? And what opportunities do you believe are made available to rare disease charities when they work together?
Yes, from 2014. There’s a story connected to it.
I was travelling on behalf of the Czech Cystic Fibrosis Association, sometime after my daughter was diagnosed, to all these conferences related to cystic fibrosis, and there I met other people on an international level.
One time, we were literally in an elevator, and one of our experts, Professor Milan Macek, was like: ‘Hey, how about we form an umbrella organisation for rare diseases?’ I was looking at him like, ‘What’s this guy thinking? I’m here for cystic fibrosis only!’
But, you know, two years later, an umbrella organisation was actually founded, and the Czech Cystic Fibrosis Association was one of the founding members. I then became a chair after a year. I am very, very grateful, and I’m very, very humble and lucky to be the chair.
And now, to the question of opportunities, the opportunities are ginormous, because we are alone, but together we are very strong.
I really believe in that because, thanks to this – thanks to Rare Disease Czech Republic – we managed to achieve many changes that are systemic and bring benefits to all the patients with rare diseases in our country.
On an international level, look at the expert conference results, what we have done, and how much of an impact we had when we united our forces with EURORDIS during the Czech Presidency of the European Union. So, I think it is important to be connected and united – becoming part of one.
What changes has Rare Diseases Czech Republic helped bring about to improve the lives of people living with a rare disease?
When we started in 2012 with Rare Diseases Czech Republic, people barely knew what rare diseases meant. There was a lot of confusion, there was a lot of misunderstanding, and we decided to make a change to actually increase awareness about what a rare disease is.
We gradually worked on raising awareness about rare diseases and, in 2016, we made a systemic change when we implemented a change in the legislation concerning health care services, where the term ‘rare disease and orphan drugs’ were specifically mentioned to and actually defined.
So that was the first systemic change, or legislative change, because I knew from the very beginning that if it’s not written in black on a white paper, in a piece of legislation, we would not move forward.
We didn’t make a lot of changes, but we made significant ones that we could build on. That is what we realised was important to do as an umbrella organisation, because our member associations have their own activities, and they try to improve the quality of life of more specific groups of people with a certain diagnosis. That is very important, but an umbrella organisation should be helping smaller organisations do a more effective job, more easily. So that is what we essentially started doing.
How should the EU continue to make sure people living with a rare disease do not feel ignored by decision-making processes?
That’s a difficult question, because we are all fully aware of the subsidiarity clause in health-related policy areas.
We can have European regulations that impact national legislation – we certainly have had regulations related to orphan medicinal products, and now it’s time to actually look back and see what we can do to improve them.
However, it is a difficult thing to make a difference for people living with a rare disease from only the top in the EU. We need a combination of national-level and EU-level policy action. We need to support rare disease umbrella organisations in each country, to actually make European regulations impact the national level.
It is a difficult process, but it is doable. It requires, again, cooperation on both the national and international levels. But it is a challenge.
In what ways can regular citizens create a more inclusive society for people living with a rare disease?
I have two teenagers at home right now. I think that creating a world which is more inclusive of people living with a rare disease will be easier than I thought it would be because they are extremely sensitive to those with disabilities or differences.
I think younger generations are very respectful, so I have a great belief that future generations will have a better situation, and that the society will respect those that have some kind of rare condition.
We are a society. Everybody has a problem of some kind, and we need to respect that and not be ignorant. Maybe I’m just living in a bubble. I hope I’m not. But I can see that the young people do have this approach and I’m very happy about it.
As a member of the EURORDIS Board of Directors, what do you hope to see EURORDIS achieve over the months and years to come?
I think EURORDIS has done an amazing job and I’m so proud to be part of the organisation.
I think it’s just this constellation that EURORDIS has, and they’re lucky to choose the right people, the right employees, who really are involved and have a personal interest in making a difference. I think it’s amazing watching you guys do your job.
All these people are trying to make a difference, and they see that there is a need for change and need for help for people living with a rare disease, because we still have a long way to go, both at the European level and national levels.
Every day, I meet people with so much sorrow, so much pain. Many people with a rare disease are not understood because they don’t have a diagnosis, because there is no drug, because there are no social services. They’re left alone. They’re not accepted by their societies. So, we have a lot to do.
I think and feel that the future of EURORDIS is slowly but surely making a turn towards more social-related areas that need to be addressed.
In terms of the holistic approach to supporting people with a rare condition, we also need to be very active in improving their daily quality of life. This is the direction where I feel EURORDIS should be going.
Interview with Kirsten Johnson
What first led to you becoming involved in advocating for people living with a rare condition?
I knew absolutely nothing about the rare condition world and when my two girls were diagnosed with Fragile X syndrome it was a real learning curve.
Going through the diagnosis, and then trying to get care in place, and accessing services taught me so much. It was that learning that I wanted to pass on to other people who are facing similar challenges.
You are the Chair of the Fragile X Society in the UK, as well as Chair of Fragile X International. Over the years since your advocacy, what successes have we seen that have improved the lives of people living with Fragile X Syndrome?
One of the reasons I got involved as an advocate was because there wasn’t much research done on girls and women with Fragile X syndrome. Up to that point, much of the research had focused on men and boys. So, I wanted to encourage research and build awareness around how Fragile X syndrome can affect girls and women and, I’m happy to say that in recent years, that has improved.
There’s still lots of work to be done, and I’ll continue to push for more research in those areas, but we are now seeing more support being put in place for girls and women with Fragile X syndrome.
The other thing I have done recently, is earlier this year, I was involved in publishing an article calling for terminology to change. When the Fragile X gene was originally named over 30 years ago, it was called the ‘Fragile X mental retardation gene’, which is really offensive and led to a lot of stigma and discrimination. So, the Fragile X community got together, and we advocated for that name to be changed, and I’m happy to say it has since been changed. Over the summer, it was renamed the Fragile X messenger ribonucleoprotein 1 gene, and just that one change has resounded around the world.
I’ve had scientists, researchers, families, and advocates from so many countries emailing to say thank you. Because when you receive a diagnosis that has offensive terminology in it, from day one, you face an upward struggle trying to say “actually, this is about me and about a condition,” but you have a label attached. Having changed that label, so that it’s now positive and inclusive, has really changed the way Fragile X Syndrome is approached internationally.
The other thing I have been involved with recently is around carrier issues in the Fragile X world. So much focus had been on those who have Fragile X Syndrome, and not as much was done on those who carry the gene. But now we know that there are lots of Fragile X Premutation Associated Conditions, and there are lots of ways that that gene can affect the carrier. So, I’m working in that area now and, indeed, have published an article on that as well, trying to raise awareness around how we carriers are affected by this gene.
Over the course of your career, have you seen governments and societies become more inclusive of people living with a rare disease? If so, in what ways?
I think we have become more open in how we discuss rare conditions. I think there’s still a huge amount of work to be done to fight stigma and discrimination, so I will continue to advocate for inclusion, but I’m happier that we live in a world that is open to discussing disability and what it means to different people.
It’s wonderful we’re now having those conversations, but there’s still a long way to go.
How should the EU and European governments continue to make sure people living with a rare disease do not feel ignored by decision-making processes?
I’m really keen that people living with rare conditions are included at the outset of any formation of policy.
Sometimes, it feels like we’re a tick-box exercise that happens after the policy has been formulated. I really think that at the EU level, there needs to be inclusion from the very start of formulating any policy that might affect those living with a rare condition.
The other thing I’d like to see is that in developing the European Health Data space, which is currently being worked on, I’d like to see people living with rare conditions involved in how consent is managed and how their data is handled, used, and processed. I think those kinds of issues are core and we need to have people living with rare conditions involved in how we set those out. We want people to be put in control of their data, so that they are in control of who uses it and how it’s managed.
In what ways can regular citizens create a more inclusive society for people living with a rare disease?
For me, I’d like people not to make assumptions.
I’d like there to be conversations about ‘What is your rare condition?’ and more of an understanding about the rare conditions, rather than assuming that somebody is the way they are because they read something in a magazine about it.
Along with that, I’d like there to be more affirmation, and more equality so that anyone, no matter what rare condition they live with, is valued as an equal citizen and equal member of society.
As a member of the EURORDIS Board of Directors, what do you hope to see EURORDIS achieve over the months and years to come?
One of our goals is tackling the diagnostic odyssey.
I’ve experienced first-hand that it can take years to reach a diagnosis and we, as a Board, are working on that in Europe so that we can reduce that diagnostic odyssey.
I’m actually on the Newborn Screening Working Group, and I feel passionately that we need to expand the bloodspot screening programme across Europe. In some countries, only a few conditions are screened for, but in others, like Italy, over 40 are screened. And indeed, there’s a trial in Belgium for 120 conditions to be screened for.
So, we have the technology, and we have the models in place. We just need the political will to roll out a much more expanded newborn screening programme across Europe for every country so that we can have early diagnoses. Early diagnosis means that support can be put in place and lives are saved. Some of these conditions can actually lead to death very quickly if support isn’t put in place, so it’s really important to get that early diagnosis.
What values or priorities will be key to EURORDIS succeeding in its ambitions to create a better world for people living with a rare condition?
I think community is really important, that when living with a rare condition, one can feel very isolated. Indeed, with some rare conditions, there are very few people who have them, so it’s only by joining together that you can feel part of a bigger rare condition community and EURORDIS provides that.
We help people network and bring country organisations together so that people aren’t isolated, and they can access support. Even if there’s no specific support for their rare condition, they can access broader support from the rare disease community so that they aren’t alone.
I think EURORDIS working in that space, developing the community, bringing people together, and working across borders is really important.
Read more interviews from our Meet the Board interview series.