Better care and networking: how networks fight for people with rare diseases

All World Health Days promote awareness of illnesses and highlight how these conditions impact the lives of those affected by them. The International Rare Disease Day on February 29, 2020, shines a bright light on the lives of nearly four million people in Germany who live with rare diseases. It also addresses those among us who have perhaps never heard of these diseases. It is important to raise awareness for this cause, to put a face on rare diseases and improve the quality of life of those affected.

The European Union identifies nearly 8,000 diseases as rare, referring to those types of diseases that affect just 5 out of every 10,000 people. By the time they are finally diagnosed, most people affected have endured a long journey. On average, this diagnostic "odyssey" takes 15 years and countless doctor visits to ultimately find an expert who draws the right conclusion. "The challenge of rare disease is that there are often no cardinal symptoms," says Miriam Schlangen, Head of the National Action Alliance for People with Rare Diseases (NAMSE). To make matters worse, practitioners frequently also tend to lack awareness of these types of illnesses. "After all, many doctors learn the saying, 'when you hear hoofbeats, think horses, not zebras.' Yet this rule of thumb often doesn’t help when it comes to rare diseases."

Even after a diagnosis, people face an uphill battle: "In most cases, there is no available treatment after diagnosis. And if there is a treatment, it typically requires a multidisciplinary team of experts - often over a lifetime." This is where NAMSE comes in. Since 2010, the Coordination and Communication Panel focuses on improving patient care. That’s why the core mission of NAMSE "recommends the establishment of centers for rare diseases, allowing patients to meet experts who are familiar with different types of rare diseases. What’s more, there are still many types of rare diseases under the 'unclear cases' designation. These patients need a contact that uses state-of-the-art diagnostic procedures aided by global registries."

According to Dr. Schlangen, there is a general lack of points of contact. ACHSE e.V., the German Alliance of Chronic Rare Diseases (German: Allianz für Menschen mit Chronischen Seltenen Erkrankungen) is committed to accompanying patients with a rare disease diagnosis on their disease journey. The Alliance is the umbrella organization by and for people with chronic rare diseases. The network helps those affected to cope with their condition, facilitates contacts to self-help groups and acts as a political voice. "Our network has shown that the consolidation under the ACHSE umbrella gives encouragement and strength and reveals that sharing knowledge and experience is essential in everyday life and self-help processes," says Head of Communications Bianca Paslak-Leptien. "ACHSE provides a platform for communication exchange at events or in online settings."

Needless to say, the Internet also plays a big role in the lives of people. After all, it has never been easier to connect with others, to network or to make a difference and prompt changes together. Having said that, openness also makes people more vulnerable. "It goes without saying that you must protect your privacy, especially when it comes to your own or your child's illness." Unfortunately, ACHSE often notices that "those affected casually disclose a diagnosis or post medical reports on Facebook pages that are accessible to everyone."

No doubt about it, digital networking has many advantages and the Internet offers a seemingly endless amount of information and knowledge. However, although you can find a lot of information on rare diseases these days, there is no guarantee that this information is indeed accurate. "That’s why ACHSE is committed to providing quality information, to bundling it and making it available to physicians and patients for free." Also NAMSE currently pursues two projects – the se-atlas project and ZIPSE to accomplish this goal. "The se-atlas project is dedicated to providing an overview of health care options for people with rare diseases in Germany. The ZIPSE information portal provides information about the different types of diseases," Dr. Schlangen explains.

Rare Disease Day will also offer information resources pertaining to rare diseases. A "rare" date that calls attention to health issues and concerns of those affected. Incidentally, over 300 million people worldwide are living with a rare disease. "That’s the equivalent of at least one child in every German school class," Paslak-Leptien points out. It shows that "rare" can actually refer to many people. There can be tremendous relief in knowing that you are not alone when you are affected by these types of diseases. On February 29, 2020, we can all get involved.