Rare diseases: "We need a new understanding of care"

Keyword Vision 2030 - what changes will characterise medicine in the next 10 years? Two aspects will play a central role: Firstly, developments in medical possibilities, and secondly, the development of improved networks, including for children and young people with rare diseases.

The development of medicine in the coming years will make new therapies possible as our understanding of the genetic and functional relationships between systems in the human body increases. These include diseases in which a single gene is responsible for the symptoms or in which the metabolic changes that cause the disease can be treated. Whether the people affected can benefit from these new therapies is not always guaranteed, and there are several reasons for this. I would therefore like to describe three visions for 2030 below:

Ensuring the necessary diagnostics and providing the necessary therapies for rare diseases

In Switzerland, genetic tests are currently only covered by health insurance under certain conditions. If, as is so often the case in childhood, the symptoms are initially not very specific for a particular disease, early genetic testing can clarify the diagnosis of some diseases and prevent the development of complications.

In the case of rare diseases, it is often not possible to speak of "typical" symptoms; sometimes the spectrum of symptoms of a disease is not even known. Time and again, families and specialists are faced with this diagnostic hurdle, which can lead therapists and patients into a medical grey area: If a necessary therapy is nevertheless started, the medication used is not legitimised by a confirmed therapy, but merely suspected or classified on the basis of the symptoms. Genetics is just one example. Other functional examinations are also not covered by health insurance, although they would be necessary to assess the severity of the condition. Foundations or research funds often help to cover the costs, although these are actually purely medical services.

"People with rare diseases have the same right to effective medication as people with common diseases."

Rare diseases often require the use of rare drugs, some of which have only been developed in recent years. The approval of these drugs and their inclusion in the list of specialities requires proof of efficacy and safety in studies. In the case of drugs for rare diseases, it often takes years before official authorisation is granted despite the evidence. These drugs are often extremely expensive and health insurance companies can refuse to cover the costs.

My vision for 2030 is: Provided that care is provided by specialists, necessary diagnostics and therapy should be made significantly easier and generally possible after the legal framework has been jointly defined. People with rare diseases have the same right to effective medication as people with common diseases.

What will be needed in 2030: Specialists in the coordination of rare diseases

It often starts long before a diagnosis is made: When children exhibit rare symptoms and the parents, together with the paediatrician, need a specialised assessment of the symptoms, it often takes months before a diagnosis is found. A visit to the doctor, and another, and another. A report is usually drawn up after each consultation and sent to the referring paediatrician. Sometimes, however, it is not possible to draw up a standardised line for further care together with the children and parents from the large number of specialised reports.

Especially when a child has a rare, complex diagnosis that requires the care of several specialists, it can be difficult to maintain an overview. Questions often arise among the specialists: Who takes the lead in treatment? Who can the parents turn to for an up-to-date assessment of their child's condition? Who determines the course of treatment?

Often, but not always, this is the paediatrician. However, she has to look after many other children and young people in her day-to-day practice. Keeping up to date with every single one of the current 8,000 or so rare diseases and having enough time for those affected is almost impossible, even in the age of the internet or other digital possibilities.

"It must become a matter of course to be able to live as normally as possible with a rare disease."

A coordinator for children and adolescents with rare diseases is needed at this point. He or she should be a medical professional who is in constant contact with every single specialist or therapist involved in the treatment of a child with a rare disease.

Her tasks include direct contact with those affected or their parents and responsibility for a seamless flow of information between the various specialists, who often do not work at the same location. She helps with the coordination of various appointments, clarifies questions before upcoming examinations and points out individual needs, liaises with the social authorities and disability insurance, and provides assistance with financial issues that families with affected children may face.

There are no plans for such a coordinator in the Swiss healthcare system in 2020. In paediatrics, which is not financially well-endowed anyway, only the medical "act" by certified specialists counts as a service at the moment.

As a specialist in paediatric and adolescent rheumatology, whose chronic inflammatory diseases are among the 100% rare inflammatory diseases, this is my vision for 2030: when we talk about networks, we need someone to build these networks. The parents alone, the paediatrician alone, the specialist alone - without mutual support, we will rarely be able to master this task satisfactorily for the children and young people affected.

What is needed in 2030: A network for people with rare diseases Affected people, family, doctors, therapists

We need a new understanding in the care of patients. In a developing network, it is initially important that doctors and therapists are given enough time to listen, ask questions and understand the symptoms.

If several specialists are involved, they need time to communicate. We already have the digital options for this, they just need to be recognised as an element of therapy and made financially possible. In care, it is immensely important that the affected and patient groups can contribute their knowledge and experience and thus act as a patient experts and define what is essential.

Rare diseases are chronic diseases that often require lifelong support. The transition age of 15-25 years is a vulnerable age range in which many things change; in a rare disease network, care should remain stable. A network needs specialists who facilitate integration into training and day-to-day work. The social participation of people with special needs should be enshrined in law as a prerequisite.

People with rare diseases make up a significant proportion of our population. It must become a matter of course to be able to live as normally as possible with a rare disease. The medical conditions for this are improving from year to year; improving the social conditions is the task of us all.