How to learn more about undiagnosed diseases thanks to the involvement of diagnosed patients in Share4Rare
Disease burden of undiagnosed patients from a holistic perspective
Diagnosing a rare disease can be a highly complex mission and it often requires great amounts of time. In many cases, several years pass until a correct diagnosis is confirmed by medical evidence. It is estimated that about 20% of patients affected by a rare disease wait more than 10 years to obtain a diagnosis, if they ever obtain one.
Nowadays, there are about 8,000 different rare diseases but our flexible nature and genetics lead to the discovery of new pathologies every year. In order to identify, characterize and describe them, it is necessary to group patients according to their symptoms and their genetic patterns, if they exist. This way, researchers may be able to study these cases and find out if there is a common cause or origin to that condition.
But meanwhile, along the way, patients and often their relatives (since rare conditions are usually genetic diseases that mostly affect children), do not have enough information and can only receive symptomatic treatments until a specific therapeutic option for their pathology is developed. This affects substantially the quality of life of both the patient and his family.
In Share4Rare we want to help describe similarities between patients with and without diagnosis through a functionality that allows the analysis of similar phenotypes, offering a personalized graphic representation for each user and placing it with those other patients who live with similar symptoms.
People Like Me is the name of this functionality, which will also allow users to share their experiences, expertise and learning through a messaging service that guarantees the confidentiality of their interactions. In the same way, this resource will be analyzed by the researchers involved in the project and will open the doors to the discovery of new groups of undiagnosed people who share a similar profile. Thus, it will be possible to characterize, study and perhaps discover common management patterns that will help to offer better protocols for patient care to each of these subgroups.
To make this collaborative research model work, that is, to generate knowledge for pathologies without diagnosis thanks to the knowledge of diagnosed diseases, the involvement in Share4Rare of patients with and without a diagnosis is essential. The Share4Rare interaction and research model is based on the premise that we all win (a win-win model). Patients with diagnosis can interact with their peers while contributing to the connection of undiagnosed patients who never had the opportunity to interact with people like them or receive support.
Would you like to contribute to this challenge? Will you help us, with your experience, to connect people without diagnosis with people similar to them and in parallel to screen potential similar phenotypes? Share4Rare is a platform designed by patients for the patients and we need your collaboration so that uncommon diseases turn eventually into something “extraordinary”.
If you finally decide to join this challenge you can register in Share4Rare and index all the symptoms that were described at the time of diagnosis of the patient with the highest level of accuracy. If you do not have a diagnosis, you can also join the challenge and describe the symptoms you suffer. In Share4Rare we do collaborative science for the community of patients and families with rare diseases!