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No one left behind, no needs left unmet: Uniting at #EMM2023 for lifelong, holistic care

May 2023

The rare disease community faces major healthcare challenges, but by focusing on the purely medical side of life with a rare condition, we can easily forget one thing: when we speak of rare diseases, we speak of people – first and foremost.

At the EURORDIS Membership Meeting 2023 (#EMM2023), we learnt that even those who are affected by a rare disease can be understandably drawn toward viewing wellbeing through the incomplete prism of physical medicine.

“I solely focused on finding answers, finding better treatment options, and I started a whole patient organisation to figure out what was genetically wrong with them,” shared Danielle Drachmann, a patient advocate living in Denmark who is the mother of children with pathological idiopathic ketotic hypoglycaemia.

“Looking back, I can see pictures of my husband with my son and also my daughter, and I’m not there, because I was solely focusing on the disease and finding the answers to the disease. So, my view on holistic care is that we need a system to remind the parents [of children with a rare condition] that it’s about more than just survival.”

As such, questions on how we and the wider society can – and must – achieve the delivery of a truly holistic approach to living with a rare condition were the centre of discussion at #EMM2023.

Breaking down barriers to full participation in society

“It took over two years to enrol my son in a regular school,” saidys Veronica Popa, the mother of a seven-year-old with Allan-Herndon-Dudley syndrome, who is also our colleague from Romania.

Veronica had to escalate the matter to the highest level of the Romanian government, ultimately securing an intervention from the Minister of Health. Unfortunately, her experience is not anomalous. Across Europe, parents of children with rare diseases are often advised to place them in separate schools, impeding their development. Veronica inevitably faced discouragement, as mainstream schools frequently fail to accommodate children with disabilities, but she stresses the need for inclusion: “I’m not asking for my son more than what any other parent asks for theirs, which is an equal place in society.”

These barriers to full participation in society extend well beyond childhood, impacting adulthood and professional life. This was reflected in the experiences shared at #EMM2023, echoing the previous finding from our Rare Barometer survey that 76% of individuals living with a rare condition have faced limitations in their professional choices.

Listening to people and eliminating stigma

In the quest for full inclusion in society, it is crucial to combat inaccurate assumptions and stigma around individuals with rare diseases, while acknowledging, embracing, and addressing their specific needs.

“Of course, if you are visually affected by the disease, you can imagine you are a victim of bullying at school,” explains Class Röhl, the President of NF Kinder and the father of a daughter with Neurofibromatosis type 1 (NF1), a genetic disorder causing tumours to grow along nerves. “It’s hard to find a job in adulthood where people accept you the way you look. It’s hard to have social interactions, and easily you can feel like, okay, I’d rather isolate myself and stay at home, rather than endure rude comments when I ride on the subway.” Addressing stigma is crucial to eradicating the unacceptable experiences Claas reported as faced by people with NF1.

However, combatting stigma alone is not sufficiently empowering for people living with a rare condition. Equally vital is actively listening to individuals and understanding the nuances of their unique needs. “People responsible for helping those with a rare disease and a disability should be aware that the best way to help, and the first step to take, is to ask,” explains Alexandre Méjat, a EURORDIS Board Member who lives with Bethlem myopathy, a condition that primarily affects skeletal muscles.

While Alexandre doesn’t face challenges with walking or sitting, he requires assistance when standing up, but when travelling by plane, he often encounters staff who meet his request with bemusement and uncertainty. This is because he falls outside airports’ rigid and reductionist categorisations on the needs of passengers with reduced mobility. Across all areas of day-to-day life, Alexandre rightly encourages people “to not consider that people can be placed in a category for which they already know the best way to help. Everyone is different.”

Addressing the unique strains on mental wellbeing

In addition to the burdens of social exclusion and stigma, the incomplete medical approach within healthcare systems places significant strains on the mental wellbeing of individuals living with rare diseases. Prolonged diagnostic odysseys, uncertain prognoses, encounters with dismissive healthcare professionals, and limited knowledge and treatments contribute to significant psychological turmoil.

Speaking at #EMM2023, Adéla Odrihocká, an advocate living with Ehlers Danlos syndrome from Rare Diseases Czech Republic, reported that many with her condition literally “have physical manifestations when they have to call the doctor’s office”, due to past traumas with healthcare journeys.

Adéla’s powerful illustration of the mental health repercussions faced by individuals with Ehlers Danlos syndrome struck a chord with fellow attendees at the Meeting, who could relate from their own experiences with different rare conditions. We know full well the impact that have a rare disease can have on one’s mental health. Our previous Rare Barometer survey already revealed that 37% of people affected by a rare condition suffer from unhappiness and depression – a proportion three times higher than the general population.

While encouraging progress has been made in addressing mental health at a social and political level, current public policies across Europe still fall short, particularly for those living with a rare condition. For this reason, many of our members showcased their own remarkable initiatives to alleviate the emotional toll experienced by those living with rare diseases, advocating for change and filling the gaps that currently exist.

Coming together for a truly holistic approach

We are well aware of the desperate need for advancements in rare disease medicine, with only 6% of rare conditions having dedicated therapies. But clinical interventions are not the sole route to a healthier, better and more fulfilling life. We need to begin fully valuing the social determinants of one’s wellbeing.

“I would love to have told my younger self that it’s about living and not solely about surviving,” said Danielle Drachmann at the #EMM2023 Plenary. “And that after surviving, there will be living, with amazing people and amazing communities, and sometimes you just have to find your tribe. I found it here in Stockholm today.”

The insights she shared about the need for a lifelong, holistic approach to rare diseases resonated with – and were restated by – the hundreds of other inspiring contributors attending #EMM2023.

By coming together as the strong and united community that we already are, we can build a Europe that meets the needs of every person living with a rare disease and leaves no one behind.

Julien Poulain, Communications Manager