A voice for the rare

Rare diseases are diseases affecting less than 5 percent of the population (EU definition). In Germany, about six million people suffer from a rare disease. What these diseases have in common is that they cause enormous psychological and physical challenges for patients. Therefore, it is important to talk about rare diseases and raise awareness towards them. The Rare Disease Day, which is celebrated on the last day of February every year, is an opportunity to raise worldwide awareness. 2023 marks the 16th anniversary of this day with the slogan "Share your colors".

SKC's mission is to help ensure that patients with diseases for which there are no or only limited treatment options have access to effective treatments. As market access special forces focused on orphan drugs (medicines for the treatment of rare diseases), we use the month of February to actively raise awareness about rare diseases, for example with this and other blog posts. But SKC is involved in much more:

• SKC's colleagues have decorated themselves with the colors of the Rare Disease Day. Individual portraits with neon make-up and black light have been created into a colorful collage, supporting the motto "Share your colors" by all colleagues. We send this banner with every email that leaves our servers during the month of February.

• Last year we successfully launched our SKC podcast "The Profcast - rare diseases and their Therapies". Our podcast series aims to address the special circumstances of patients with rare diseases, the associated medicine and the challenges for research, development, economics and reimbursement. For this purpose, Prof. Matthias P. Schönermark, M.D., Ph.D., managing director of SKC, speaks with patient representatives, payers, clinicians and scientists as well as industry representatives and also focuses on specific diseases. The word "Profcast" is a reference to professionals or professors, whom he welcomes as his guests. The ambition behind this is to give an appropriate space to rare diseases and their treatment sine ira et studio. In keeping with the Rare Disease Day, which traditionally takes place on the last day of February, the Profcast is published on the last day of a month. So far, 9 episodes have been released, and we're looking forward to our February edition, where we will be talking with the organizers of the Rare Disease Day.

• Since last year, SKC has also been involved in a special pro bono project: the choice fell on Hannover's Children's Hospital Auf der Bult, which has special expertise in the treatment of rare skin diseases in children, including the extremely rare epidermolysis bullosa, also known as "butterfly disease" or "EB" for short. In this genetic and as yet incurable disease, the patients suffer in the particularly pronounced manifestations from extremely fragile skin, which is easily vulnerable and has a particularly poor wound closure - the severe skin disease is immediately present from birth and carries a high burden for those affected as well as for their relatives.

In our discussions with the clinic management, chief physicians, but also employees from finance and nursing, one core problem was once again burned into our consciousness: Despite ever new treatment options for an increasing number of rare diseases, there are still a large number of rare diseases, including EB, for which no satisfactory or even causal therapy is available. As if this were not challenging enough, there are additional significant challenges for clinicians and patients alike due to disadvantages in the existing reimbursement system.

In the format of an interactive workshop, we discussed the existing problems in the EB care situation in more detail and identified promising areas for action. The aim is to strengthen the Children's Hospital Auf der Bult ability to better implement its special expertise in the treatment of this disease within the framework of a fairer reimbursement situation.

Over the next few weeks, we will provide more exciting insights into rare indications and the challenges of market access for orphan drugs with our Rare Disease Day blog series. We are the market access special forces.

Sources:
Bundesgesundheitsministerium: Seltene Erkrankungen
Rare Disease Day