For Patients & Families

Thank you for joining the RD-Connect Website.  We would like to introduce you to the RD-Connect project, and explain why it is important to everyone affected by rare diseases.

All families affected by Rare Diseases need to face many challenges when they first receive the diagnosis of a rare disease.  What is the disease and is it known to the clinical community? The European Commission co-funded Orphanet, a reference portal for information on rare diseases and orphan drugs, for all audiences. Orphanet’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases. This resource is important for patients but also for medical doctors and scientists, as they also want and need to understand how rare the disease is and what is known on the disease.

You will appreciate that many aspects of each Rare Disease is specific to you and your family. There are many local issues, such as national budgets, or access to new medications, that will affect what care you receive. However, with all rare diseases there are similarities that we can use to argue for better research, for better support, for better treatments and for this Patient Organisations are able to work together through EURORDIS Rare Diseases Europe. EURORDIS is a non-governmental patient-driven alliance of patient organisations and individuals active in the field of rare diseases in Europe.  Other disease specific groups have been formed for Muscular Dystrophy, Thalassemia and other illnesses who will have their own websites and provide disease specific support.

A Rare Disease diagnosis typically changes families. They join together to build awareness of the disease, the symptoms and also to share the problems they face. The pooling of experience in your country, across Europe or across the globe allows you to get a better understanding of the illness and the treatments available.  At this stage, many patient organisations are formed. Often, they aim to get a better understanding of the disease, which often involves the formation of databases of patients (Registry) which may also keep notes on specific genetic testing (Genomic data) or biopsies that may have been made (Tissue sampling collected and stored in a Biobank). All of this information is crucial for researchers to advance their understanding on how the disease progresses and to develop new and effective treatments.

It is here that RD-Connect plays a central role. RD-Connect has developed resources to help start Registries, New Genomic databases or databases for information on samples from clinical biopsies (Biobanks). The purpose of storing this information is to allow cross-references by different laboratories. The information is kept secure and there is a need for appropriate consent to be given from patients to allow their data to be used. If these are in place, then a researcher in one laboratory may be able to work with another lab around the world.  The Clinical community can share experience with patient treatments. Registries are also useful for patient recruitment in clinical trials, if a potential treatment becomes available. Information stored in the Registry allows companies to work with Medical Doctors to conduct clinical trials.

RD-Connect is an important development as we start to gain understanding on rare diseases. They often have characteristics that are shared by other diseases making it easier to understand why the patient is ill and what type of treatment they need.