Rare Disease Day and beyond: How can digital services improve the status quo?

Martin Verdino (MV): Roi, you diagnosed yourself with a disease that is unknown to most people: Postural orthostatic tachycardia syndrome (POTS) after the doctors more or less gave up on you.

Your way from the first symptoms to the diagnosis was very long, as it is often the case with rare diseases. It is often the central message that we encountered while conducting interviews with patients, relatives and doctors. This is not only the case in the field of rare diseases, we also saw this when it comes to psoriasis for instance. Besides there are a lot of obstacles and difficulties that patients have to face.

What are the main differences between the field of rare diseases and other illnesses that are more common?

Roi Shternin (RS): We have a crude criteria in the EU: if a disease affects 5 people out of 10.000 it's a rare disease. POTS for instance affects 170 per 100.000 and is therefore almost meeting the criteria. We play a number game, in which we dismiss thousands of patients. I think we have superstar illnesses (cancer, MS or diabetes). Rare diseases are by criteria rare and the ones in the middle are ignored. Sometimes these people can suffer more. If you have a rare disease there is often at least one center in the world that is researching on it. Whereas if you suffer from one that doesn’t match the criteria you are in the middle and you often struggle to find someone researching on this disease. We have a cynicism problem. I see that there is a huge market even though such a small number of people is concerned e.g in Israel a genetic illness that affect 5 children costs one million dollar. The decision in which disease to invest in order to find a cure is tough. I mean you have to ask yourself „What is life worth?“ And this is almost impossible to answer. If we don’t start to help people and I’m not even talking about the cure but in general then we will lose work force, productivity and happiness.

MV: How would you describe the circumstances in which people with rare diseases live in terms of communication with experts and other patients because there are so few?

RS: I’m noticing a battle going on in the healthcare sector in order to get heard. Patients are fighting for their rights and for being acknowledged, medical staff that is often over-worked is fighting to get more time to undergo a diagnosis. They are often lacking the tools. We are in the middle of a communication crisis. It's not even healthcare but communication between patients and doctors. I think that digital tools are one of the greatest solution in order to tackle this issue. For instance, social media and chatbots can help us to get heard. Besides, I noticed something very DACH (Germany, Austria, Switzerland) specific: it’ shame. Due to privacy issues and shame it's very hard for community leaders to create conversation. People in DACH don’t want to show that they are sick. There is a void between patients, that don’t want to be seen as such, a lack of resources by organizations and the healthcare system. Under these circumstances people with rare diseases are even more suffering.

Sherin Quell (SQ): Don't you think that with social media people can anonymously exchange with other patients about their disease?

From our experience we see that numerous patient organizations use social media, mainly facebook, so that they can create private groups in which people can exchange information about and experience with a certain disease while being anonymous.

RS: Yes, I think that it’s a good idea for patients organizations because on facebook for instance you can create a fake account. Even though we tried it in Austria we didn't see any activities compared to Israel, where we have seen great results. We currently have around 300 active users.

SQ: So, you think that it has to do with the mindset in Austria?

RS: Yes, I am sure that it has to to with the culture. In the mediterranean area people are more open to talk about their diseases. So, in a conversation it can pop up and we give each other advices on how to find a doctor. Or which clinic we went to. In Austria it’s different. People are very polite, they shake my hand but they would never talk to me about their illness. People tend to be more introvert about medical conditions or well-being. I don't talk about people with visible diseases but the ones that are invisible. This makes the discussion about rare diseases really difficult.