8th NBIA Family Conference in Germany 2018
On September 21-22, 2018, our 8th NBIA Family Conference took place in Düsseldorf with more than 75 participants. In addition to family members and affected individuals, the main participants included physicians, scientists, and a youth care team.
Most of the guests arrived the day before. After a joint dinner, we were able to end the warm summer evening comfortably on the beautiful terrace of the youth hostel. Friends met again and contacts with the many new families were quickly established. Even before the actual start of the conference, everyone felt: we are one community.
On Friday morning, the program began with a round of introductions of all those present. NBIA - Where are we in research and care? was then our main topic. The varied medical lecture program was supported by simultaneous interpreters, as there were several speakers as well as some families from abroad. We thank the many NBIA physicians and researchers who took the time to tell us families about their work.
The morning was first devoted 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, gave groundbreaking insights into the clinical state of research as well as symptomatic therapy options in PKAN and other NBIA variants. Dr. Ivan Karin (Friedrich-Baur-Institute, Munich) spoke about the similarities and differences between the various NBIA disorders. Dr. Boriana Büchner, also from the Friedrich-Baur-Institut, then reported on the development of the International NBIA Patient Registry.
Dr. Matias Wagner from the Institute of Neurogenomics at the Helmholtz Center in Munich provided information about the possibilities of genetic diagnostics in NBIA. He pointed out the genetic counseling to which all patients or their families in Germany are entitled. It quickly became apparent that this topic is on the minds of all NBIA members.
After the lunch break, Markus Nielbock, father of a 6-year-old daughter with BPAN, reported from the everyday life of a NBIA family and thus brought in the experiences of those affected - representative for many of our families with a comparable fate.
Dr. Kristina Müller, chief physician of the Neuropediatric Therapy Clinic St. Mauritius in Meerbusch, dedicated her lecture vividly to the possibilities of rehabilitation for children and adolescents with a neurodegenerative disease.
The focus of the presentation by Dr. Tomasz Kmiec from the Children's Memorial Health Institute in Warsaw was on the clinical symptomatology and the unfortunately very limited therapeutic options in MPAN.
After this still rather clinically oriented group of topics, it 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 she is working on in collaboration with Dr. Susan Hayflick from the University Hospital of Oregon.
Dr. Arcangela Iuso from the Institute of Human Genetics at the Technical University of Munich presented the International NBIA Biobank and preclinical NBIA projects for MPAN and BPAN working with disease-specific animal models.
Not only the families, but also the doctors and scientists were eager to hear the presentation by Dr. Agnès Rötig, a geneticist at the Institut Imagine 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 question and discussion sessions among all in attendance.
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-time board members of Hoffnungsbaum e.V.
For the children and young people who had come along to the conference, an entertaining leisure program took place throughout the sessions on both days of the conference, with games, handicrafts 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 puppeteer Frank from Düsseldorf, who came with his folding mouth puppets.
On Friday evening there was a delicious dinner with grilled food and salads and afterwards a relaxed and cheerful get-together until late at night.
On Saturday morning, we first communally remembered those who have lost their struggle with their NBIA disease. Then, 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 Chairperson 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 numerous personal encounters and with many hugs we said goodbye to each other late Saturday afternoon. The unanimous feedback was: a great conference and we are already looking forward to the next time.
Without our sponsors, the Techniker Krankenkasse, the Kindness for Kids Foundation and a fundraising campaign by the Gabasch family, this successful conference would not have been possible. We sincerely thank them for their financial support.
Photo: Valerie Baumann