We are glad to introduce our RARETalk guest Christoph Poincillit. In 2010 his three children were diagnosed with Niemann-Pick C (NPC). Since then he cut back on his work as engineer from the Swiss Federal Institute of Technology and started fighting this rare disease.
1) Welcome to the RE(ACT) Community Christoph, can you please introduce yourself to our readers?
I am 66 years old and I live in Switzerland. 7 years ago, after my retirement, I was planning to open a school together with my wife teaching French language to business managers. Unfortunately, the sudden diagnosis of my three children with a fatal disease completely changed our plans: I had to concentrate on philosophy and biochemistry.
2) Together with three other families, you have set up the Niemann Pick Suisse Association to try to tackle this disease and to support parents and families touched by it. Can you please tell us more about your association’s goals, your support to research projects and your achievements?
We decided not to remain hidden. The Association was created to help our families and other ones facing similar situations. One measure of help is to raise public awareness of the disease. The number of families in Switzerland directly impacted by the disease is very small, but its impact is devastating. Today the two main activities of the Swiss Association are to promote research and to raise health policies. To achieve these aims we have joined ProRaris, International Niemann Pick Disease Alliance (INPDA) and (indirectly) Eurordis and RDI.
The international link in the case of rare diseases is thus a very important issue as Switzerland; by itself, it is not so broad and requires a strong support to raise awareness.
3) You and your wife Hanny, with the help of the filmmaker Michael Werder, decided to shoot a documentary. In the film you tell of your family’s story and describe the different symptoms that each of your children experienced as they were growing up. How important is it to make the public aware of rare diseases such as NPC and do you think the use of the Internet and social media is helping this process?
There are no simple standards or set of experiences when you are dealing with a rare disease. Our family is showing only some aspects of the disorder. It provides only one set of information on the disease. On the other side, to get drastically a diagnostic is an experience faced by every NPC patient. We try to share our common sense of overwhelming devastation and to some degree, helplessness.
The film “More than Hope” was produced as a 45-minute documentary for the Swiss TV and was supposed to be seen by as many people as possible. It was a success from the audience point of view. It has been translated into 5 languages and we are currently in negotiation to have it available on the Internet. We have also produced other short videos which are already online like “Forgotten Youth”.
Of course the Internet is a very effective tool to widely disseminate and distribute information. But receptive people are not so many. I think, however, that genetics and scientific evolution will play an ever-increasing role within our society and that everybody should be interested to learn and to manage their culture and their life accordingly.
4) You also organize international conferences and lectures to circulate scientific information about NPC, hoping that a cure will be found, eventually. What do you think about the importance of knowledge sharing to push research forward? In your opinion, which are the main challenges of rare disease research?
Innovation is coming mainly from the scientists working in Universities. At the beginning, research is not business, but a vocation. You can do it from the ground up (theory) or top down (practice). But you mainly need also to have luck and to discover something significant or important and to recognise this relevance or importance. We want researchers to reach their target as quickly as possible (our time scale of extreme urgency is not the same as the one of healthy people). The best approach is to invite the advanced scientists meeting together in a restricted confinement under a confidential atmosphere. I created the Loire Valley Meeting in 2012. We (INPDA) do not ask for any results, we let scientists come and talk together every two years. What happens with any confirmed findings is another story.
5) Can you share with us three things you have learned from your personal and professional experience that can help researchers and patients?
Never give up.
Today, health is a business but should not be regarded in this way. The mindset has to change. Not the one of people with wrong genetic information (mutation) by hazard, but rather the one of healthy people who should appreciate their life. Rare disease patients pay a tribute for the entire humanity. Humans are not only subject to genetic evolution but also to cultural evolution. The last one can be influenced: research is our hope.