The Successful Way of BKMF - Self-Help Meets Science.

Advocacy, information and psychosocial support have been the key aims of the German Association of Short-Statured People and their Families (BKMF e.V.) since its establishment and development as a self-help organization from the late 1980s on. Since then, members and supporters have striven over around three decades for a fulfilled and self-determined life for people affected by short stature and for their equal participation in society. From the very beginning, communication and collaboration with professionals from medicine and other disciplines, with industry players and policy makers as well as with other self-help organizations were key activities of the Association. As one such step the BKMF setup a scientific advisory board to back its activities with professional expertise. Medical workshops and publications have resulted from this collaboration and have contributed to the growing reputation of the Association. Diagnostic and therapeutic guidelines were developed that are based on the experience of groups of experts, the short-statured people and the professionals. Moreover, two achievements made a major contribution to the ongoing competence provided by the BKMF e.V. The first of these was the establishment of the German Centre for People with Restricted Growth (DZK) - a conference and training centre that offers conference and show rooms, a sample apartment to test and promote supportive designs for adapted housing, a specialist library and space for a professionalized federal administration office. Second, the BMKF conducted research and participated in national and international research programmes with psychologists and physicians working at the Centre, who contributed with their expertise to the provision of information to short-statured people and their families. This dual and increasingly professional competence was of great importance for the development of the association as a self-help organization for the benefit of its members.

Understanding, Assessing and Improving Health-Related Quality of Life of Young People with Achondroplasia- A Collaboration between a Patient Organization and Academic Medicine.

Achondroplasia (ACH) is a rare, genetically determined health condition. Patients suffer from disproportional short stature and multiple physical and functional impairments as well as socioemotional problems. Despite the burden of disease, only few studies focus on health-related quality of life (HrQoL) of young ACH patients. In a series of studies, the BKMF e.V. in cooperation with the UKE studied ACH patients' and parents' experience of HrQoL, their responses to HrQoL questionnaires and their evaluation of a HrQoL based intervention. Both qualitative and quantitative approaches were used. Psychometrically appropriate instruments were identified and the wellbeing of young patients with ACH was analyzed showing no difference from a healthy norm sample using generic instruments. However, disease-specific instruments showed discrepancies between patients with proportional and disproportional short stature. Still, results show a significant effect by age and the evaluation of the counselling concept reveals that young ACH-patients especially benefit from such intervention.