How can we speed up the diagnosis of rare diseases?

Rare diseases are often diagnosed very late (often after many years). This is all the more damaging because, generally speaking, the longer you wait, the more irrevocable the consequences of the disease.

It is therefore vital to diagnose rare diseases as early as possible.

A rare disease affecting many people

A disease is considered rare according to its frequency in the population. There are two main definitions used to define a rare disease:
● European Union (EU): A disease is rare if it affects fewer than 5 people in every 10,000 inhabitants. personnes sur 10 000 habitants.
France : A disease is rare if it affects less than 1 person in every 2,000 inhabitants.

Some 7,000 rare diseases have been identified to date, and nearly 80% of them are genetic in origin. Despite their individual nature, these rare diseases collectively affect a significant number of people, with an estimated 3 to 4 million affected in France.

Very similar causes of misdiagnosis

We often see the same causes for the erratic diagnosis of rare diseases:

A disease with very generic symptoms

Lack of knowledge of the disease among healthcare professionals
(general practitioners and specialists)

Existing recommendations that are complex and therefore little known

Experts in place (sometimes even expert centers), but patients often arrive too late,
after a considerable amount of searching

Consultations often misdirected, with patients not seeing the right person to talk to.

The 1st consultation with an expert takes a long time.

Difficult access to experts in areas of medical deprivation

Innovative solutions to reduce
diagnostic delays

At iRevolution, we've talked to experts, general practitioners and specialists alike.... And we have been able to put in place solutions that drastically reduce the number of misdiagnoses.

To do that, we give patients the tools they need to initiate a course of treatment as early as possible, starting with their symptoms. It is the patient (assisted by digital tools made available and validated by experts) who will initialize his or her patient file, and then raise awareness among doctors and specialists via an advanced patient file. Thanks to this approach, healthcare professionals are alerted to the fact that there's a subject they need to look at, and can therefore challenge themselves to look for rare diseases.

Solution essentials

When implementing these solutions, it is important
to observe the following points:

The solution must not be a tool for self-diagnosis, replacing the doctor.

The solution must be an aid to the doctor, not a tool to challenge him or her.

The solution must save time for healthcare professionals, by transferring the
burden to the patient, who will then be able to use it.

The solution must be based as much as possible on published and validated
supported by one or more learned societies.

The solution must be ergonomic, friendly and simple in appearance, for easy adoption.

The solution must be easy to use, without imposing yet another tool on the healthcare

At iRevolution, we have implemented these solutions, and acquired feedback from experience, to limit medical wandering for rare pathologies. Many patients and healthcare professionals use our solutions and testify to the benefits they have experienced.