EURORDIS invited to a membership meeting in Stockholm and promised an event that «will provide an engaging and lively discussion on the road towards a holistic approach to addressing the needs of people living with a rare disease and ensuring their full inclusion in society». Mental health was also a hot topic in the conference.

Two parallel workshops were offered during the first day of the event. The first one focused on digital safety and literacy related to healthcare digitalisation, while the other workshop aimed to enhance mental wellbeing in the rare disease community.

I chose the digitalisation workshop and it started with a walk-through of the suggested EU legislation on European Health Data Space (EHDS) by a lawyer working for the EU Commission. He started by pointing out the short comings of today’s health care system:

• individuals have difficulties accessing and controlling their health data
• HPCs, policy makers and regulators have difficulties accessing health data
• Limited research and innovation takes place on the basis of health data

The suggested legislation aims to solved these problems. This is all based on the digitalisation of all EU citizens’ health data based on a common standard, infrastructure and governance framework. The primary use of the health data will be by the individuals. Each person will have access to their own health data in a digital format on an app. This is referred to as MyHealth@EU. Since the standard is common throughout EU, the data can be access by, for instance, doctors and pharmacies in other countries when a person is travelling. (Translation services might even be provided.)

The data might also be accessed on a secondary basis. This concept is referred to as HealthData@EU. Researchers, policy makers, regulators, etc might access anonymised data of all the citizens. This could, in theory, lead to better research and development of new medication, large cost savings, better diagnosis and treatment, etc.

The lawyer from the EU Commission hoped that the legislation would be adopted before the elections in 2025. Implementation in the different EU countries will probably take years.

Next, a computer expert talked about data security and how to reduce the risks when using apps while being online on Internet. He gave examples of what kind of data that, for instance, social media companies collect from theirs users. It is far more invasive than most people know. The consumer data is then sold to other companies that use this information to, for instance, target specialised and individualised adds.

The expert also gave an introduction to the General Data Protection Regulation (GDPR). He showed, for instance, how we as patient associations are restricted by GDPR when storing member data (e.g. email addresses). His advise was simple: «Personal data is a legal liability for any organisation. Collect as little as possible for your purpose and get rid of it as quickly as you can.»

The first half of the next day was dedicated the following topic: Lifelong holistic approach and full inclusion in society. Presentations were given and we heard from several rare disease patients and carers about their understanding and definition of holistic care. The one that resonated best with me was the mother who talked about caring for her son with a rare disease. Her main focus had been on his illness – i.e. that he took his medication when he was suppose to, that he was careful and not exposed to anything that could worsen his condition, etc. Eventually a good friend told her that this probably was not to the best for the child. For the child, the life quality was, of course, also important. So the mother’s care was too narrow since she was only focusing on making sure that her son survived the disease. She needed to expand the care and also let her boy live a full life as a child and in this way give a more holistic care.

Much focus was also given to mental health. Living with a rare disease is not always easy. A teenager who was severely disabled and sitting in his wheelchair, impressed all by his wisdom and positive attitude. He expressed the following wise words: «It is ok to have ups and downs, because if it is just a straight line, it means you’re not alive…»

During the second half of the day, the participants had four workshop options: Living with a rare disease as

1. a child
2. an adolescence
3. an adult
4. an elderly

The workshops were repeated the next day, so each participant could participate in two workshops in total. I chose living with a rare disease as an adult and as an elderly.

The workshops made me realise how diverse the rare disease community is. There are more than 6000 rare diseases and many diseases were, of course, represented by the approx. 300 participants that attended this EURORDIS event. However, it seemed like many of the diseases were heritable and that most had been born with their rare disease. Many were severely disabled which made it difficult for them to go through life without some assistance. And as the medication gets better and the patients live longer lives and get old, comorbidities make life even more difficult. And many of the rare diseases also come with intellectual disabilities making it even more difficult for patients to take care of themselves. Furthermore, the longer one lives with a rare disease, the bigger the chances are that mental problems set in. These were some of the topics discussed during the workshops. The participants were not shy to participate and share their personal experiences which made the workshops very lively and interesting.

PHA Europe turned out to be well represented at the conference with delegates from both Norway, Latvia, Ukraine and Romania. We experienced an interesting conference, learned a lot about other rare diseases and holistic care, and we all also expanded our networks.

Hall Skåra
Egersund 27th of May, 2023