From September 21 to 22, 2018, our 8th NBIA Family Conference took place in Düsseldorf with more than 75 participants. In addition to family members and those affected, the participants included doctors, scientists and a team of youth workers.
Most of the guests had already arrived the day before. After dinner together, we were able to enjoy the warm summer evening on the beautiful terrace of the youth hostel. Friends met up again and contacts were quickly made with the many new families. Even before the actual conference began, everyone felt that we were a community.
On Friday morning, the program began with a round of introductions of all those present. NBIA - Where do we stand in research and care? was our main topic. The varied medical lecture program was supported by simultaneous interpreters, as several speakers as well as some families from abroad were present. We would like to thank the many NBIA doctors and researchers who took the time to tell us families about their work.
The morning was initially dedicated to clinical care and research at NBIA:
Professor Dr. Thomas Klopstock, head of the NBIA team at the Friedrich Baur Institute of the Neurological University Hospital in Munich, provided groundbreaking insights into the current state of clinical research and symptomatic treatment options for PKAN and other NBIA variants. Dr. Ivan Karin (Friedrich Baur Institute, Munich) spoke about the similarities and differences between the various NBIA diseases. Dr. Boriana Büchner, also from the Friedrich Baur Institute, then reported on the development of the International NBIA Patient Registry.
Dr. Matias Wagner from the Institute of Neurogenomics at the Helmholtz Centre in Munich provided information on the possibilities of genetic diagnostics for NBIA. He drew attention to the genetic counseling to which all patients and their families in Germany are entitled. It quickly became clear that this topic is of concern to all NBIA patients.
After the lunch break, Markus Nielbock, father of a 6-year-old daughter with BPAN, reported on the everyday life of an NBIA family and thus contributed the experiences of those affected - on behalf of many of our families with a similar fate.
Dr. Kristina Müller, Chief Physician at the St. Mauritius Neuropaediatric Therapy Clinic in Meerbusch, gave a vivid presentation on the possibilities of rehabilitation for children and adolescents with a neurodegenerative disease.
The presentation by Dr. Tomasz Kmiec from the Children's Memorial Health Institute in Warsaw focused on the clinical symptoms and the unfortunately very limited therapeutic options for MPAN.
After this more clinically oriented group of topics, things became very scientific:
Professor Ody Sibon from the University of Groningen presented the path from basic research to clinical trials in PKAN. Her presentation focused on a current PKAN therapy project that she is working on in collaboration with Dr. Susan Hayflick from the University Hospital in Oregon.
Dr. Arcangela Iuso from the Institute of Human Genetics at the Technical University of Munich presented the International NBIA Biobank as well as preclinical NBIA projects for MPAN and BPAN, in which disease-specific animal models are used.
Not only the families, but also the doctors and scientists were excited about the presentation by Dr. Agnès Rötig, geneticist at the Imagine Institute of the University of Paris Descartes. She presented a common disease mechanism in a number of NBIA variants.
After each block of presentations, there were lively rounds of questions and discussions between all those present.
Parallel to the lecture program, some parents whose children had died of NBIA in recent years met for a discussion group for grieving families. This discussion group was sensitively led by Ursula Hofmann and Michaela Schürer, both long-standing board members of Hoffnungsbaum e.V.
For the children and young people who came to the conference, an entertaining leisure program took place throughout the sessions on both days of the conference, with games, crafts and a walk along the banks of the Rhine. Our very special thanks go to our wonderful team of supervisors from the Catholic parish in Velbert, who took on this task on a voluntary basis for the 8th time now. They were supported on Friday by the Düsseldorf puppeteer Frank, who came along with his folding mouth puppets.
On Friday evening, there was a delicious dinner with grilled food and salads, followed by a relaxed and cheerful get-together until late into the night.
On Saturday morning, we first commemorated the people who have lost their struggle with NBIA. After a break, the annual general meeting of Hoffnungsbaum e.V. took place. We will report on this separately soon.
On Saturday afternoon, there were also insights into the international NBIA patient community. Hoffnungsbaum Chairwoman Angelika Klucken presented the origins and projects of the NBIA Alliance, the international umbrella organization for currently 9 NBIA patient associations.
Fatemeh Mollet from Switzerland then reported on the NBIA patient organization she founded, NBIA Suisse. Ms. Mollet, who comes from Iran and has 3 nieces with MPAN there, is also the founder of an NBIA support group in Iran. Thanks to her great commitment, NBIA Suisse has already been able to award two grants to the Technical University of Munich for the multi-year research project "Therapeutic strategies for the treatment of MPAN patients".
The families present enjoyed the many personal encounters and we said goodbye to each other late on Saturday afternoon with lots of hugs. The unanimous feedback was: a great conference and we are already looking forward to the next one.
This successful conference would not have been possible without our sponsors, Techniker Krankenkasse, the Kindness for Kids Foundation and a fundraising campaign by the Gabasch family. We would like to thank them for their financial support.
Photo: Valerie Baumann