Skip to content
Generic filters
Exact matches only
Search in title
Search in content
Search in excerpt

A lifelong, holistic approach to rare diseases

mai 2023

Living with a rare disease is a complex journey that poses unique challenges at every stage of life. Despite this, individuals affected by rare diseases are often lumped into a single category, disregarding the diverse range of their experiences. It’s time to change this and strive for true health equity, based on a holistic approach to people’s needs.

At the EURORDIS Membership Meeting 2023 (#EMM2023), taking place in Stockholm from Thursday 25 to Saturday 27 May, we will offer a series of thought-provoking sessions on different stages of life with a rare disease, spanning from childhood through to later life. Our workshops will pose relevant questions and encourage our members to share their experiences, expertise, and best practices.

We look at each of the workshops at #EMM2023 relating to different life stages, and spotlight some of the inspiring speakers who will join us.

Together, we can take a significant step towards achieving true health equity for individuals living with rare diseases.

Living with a disease in childhood

Children with rare diseases need the same things as all children to grow and thrive, but families raising a child with a rare disease will face specific, additional needs. Obtaining a diagnosis can be difficult, resources can be scarce, and caring for a child with a rare disease can be all-consuming, with over 42% of parents spending more than two hours a day on care-related tasks.

I have dedicated years of what should have been the sunrise hours of motherhood to finding a cause and a cure for my children. Time spent in front of the pale blue light of a computer screen and not with my beautiful children.

Danielle Drachmann, Executive Director of Ketotic Hypoglycemia International, Denmark

Caring for a child with a rare disease is can be a demanding duty, even if unquestioningly upheld through love. But with support, families can navigate the challenges facing them and their child.

During our workshop, ‘Living with a rare disease in childhood’, we will hear from several esteemed speakers, including Danielle Drachmann.

Danielle is a mother of children with pathological idiopathic ketotic hypoglycaemia, and she’s the Executive Director of Ketotic Hypoglycemia International. Danielle has been tirelessly raising awareness of this rare condition, which can lead to life-threatening attacks if left untreated.

Facing significant medical and social challenges, all parents can benefit greatly from the support of others whose children have similar conditions.

Our workshop will cover a whole spectrum of various topics related to caring for a child with a rare disease – from attaining a customised therapy plan, to seeking early intervention, to promoting mental health and wellbeing, to helping others understand your child’s condition, to being an advocate for your child.

“I am not a medical doctor, nor was I educated in how to conduct research,” says Danielle, “but after years of life-and-death levels of necessary commitment, I consider myself an expert. »

Living with a rare disease in adolescence

Being a teenager is challenging, even under the best of circumstances. For adolescents with rare diseases, there are added physical, psychological, and emotional challenges. Living with a rare disease sets you apart from your peers, but it can also provide particular strengths and opportunities.

If society removes the barriers that prevent me from doing everyday things, I can become a very productive person and give back to society. I have so much to contribute: my intellect, my brain. I believe I can become a lawyer or an architect, whatever I want.

Jane Velkovski, accessibility champion, North Macedonia

At our workshop, ‘Living with a rare disease in adolescence’, we will hear from 15-year-old Jane Velkovski, a passionate advocate for individuals living with rare diseases and disabilities, whose inspiring TED contribution has been viewed two million times.

Jane lives with Spinal Muscular Atrophy (SMA), which is a rare genetic condition affecting the muscles, making it difficult to walk, eat, breathe, and perform other activities of daily living. Refusing to let his disease take over, Jane emphasises the importance of making sure that assistive technology is available to everyone who needs it.

We’re thrilled that Jane, among other distinguished panellists, will be joining us to share his perspectives with our community on how to better support adolescents living with rare diseases as they transition from childhood to adulthood.

Living with a rare disease in adulthood

The experiences of being an adult with a rare disease differ from those faced by children or teenagers with the same condition.

Adults with a rare disease face challenges, such as managing their own medical care, circumventing the obstacles of their healthcare system, and coping with the financial burden of their condition. They may face difficulties related to employment, relationships, and other aspects of adult life.

Additionally, as rare diseases are often poorly understood by the general public – and even by healthcare professionals – adults with a rare condition may struggle with finding appropriate care and support.

There is no causal treatment for 95% of rare diseases, but despite this number, we need to ensure that every individual living with a rare disease gets to live with the highest quality of life possible and has access to high-quality, complex care, that is well organized and that considers every aspect of the individual living with a rare disease.

Adela Odrihocká, Rare Diseases Czech Republic

From housing, to employment, to mental health, our workshop, ‘Living with a rare disease in adulthood’, will address a full breadth of policy areas relating to the full, equitable integration into society of adults who live with a rare disease.

Adéla Odrihocká, a young patient advocate from Czechia living with Ehlers-Danlos syndrome, will be among the workshop’s speakers. Adéla’s main areas of focus as an advocate have been gender biases in healthcare, EU-level rare disease policies, and social aspects of living with a rare disease and disability.

In this session, Adéla will share her insights on how improved social services, accessible housing, psychological support, and enhanced access to education and employment can – and must – complement classical medical approaches, encouraging everyone to “shift our attention from the medical model of disability and focus more on the social one”.

“We need to ensure that everyone living with a rare disease gets to live with the highest quality of life possible and has access to high-quality, complex care, that is well-organised and takes into account every aspect of the individual living with a rare disease,” argues Adéla.

Ageing with a rare disease

Growing into old age universally presents challenges to one’s health, but a rare disease can compound these – and present yet more – challenges.

We have to talk about the transition process from the older generation with rare diseases to geriatric care and care for the elderly. Becoming older with a rare disease is something I never thought I would get to do because my parents were told in hospital that I would not become older than 20-30! I am glad to be talking to people at #EMM2023 about ageing with a rare disease because the exciting times are now!

Cees Smit, haemophilia advocate, the Netherlands

Physical symptoms, such as muscle weakness, joint stiffness, fatigue, and chronic pain can become more severe with age. As cognitive abilities simultaneously decline, some of the affected rare disease population may experience difficulties with memory and attention, making it even tougher to independently manage one’s own healthcare needs.

Yet, despite these challenges, many people with rare diseases who age are also resilient and resourceful, with the ability to draw on their lifetime of experiences and their strong support networks.

Cees Smit, from the Netherlands, will speak about this topic at our workshop ‘Ageing with a rare disease’.

Cees was born with severe haemophilia in 1951, and has been actively involved in various national and international patient organisations for over fifty years. In recognition of his contributions to the scientific and societal aspects of haemophilia, patient participation, and biotechnology, Cees was awarded an honorary doctorate from the University of Amsterdam’s College of Deans in 2003.

In this workshop, we will hear his insights from Cees and others on the need for improved and integrated care for older people living with rare diseases. “We have to talk about the transition process from the older generation with rare diseases to geriatric care and care for the elderly,” says Cees. “I am glad to be talking to people at #EMM2023 about ageing with a rare disease because the exciting times are now.”

Join us in Stockholm!

The EU is making progress in key policy developments that will determine the achievement of a lifelong, holistic approach to supporting the rare disease population. This progress includes legislative efforts to expand access to rare disease medicines, modernise health data systems, improve people’s mental wellbeing, and promote more equitable and inclusive societies for people with disabilities.

However, it’s up to our community to ensure that this progress is optimised, with policymakers hearing our hopes, concerns, and advice on the way forward.

#EMM2023 will provide the opportunity for our community to exchange ideas and best practices towards this goal. Don’t miss out on this chance to join us!

The EURORDIS Membership Meeting 2023 (#EMM2023) will take place in Stockholm on 25-27 May, and registrations close on 10 May.

Julien Poulain, Communications Manager