An historic four-day event for Glycoprotein Storage Diseases occurred April 1-4, 2004 in Rockville, Maryland. This event witnessed the first professional and family conference on these diseases held anywhere in the world. On April 1 & 2 the National Institute of Neurological Diseases & Stroke (NINDS) sponsored a rare disease workshop titled The Glycoproteinoses: An International Workshop on Advances in Pathogenesis & Therapy. The program for professionals was put together by a committee including Steven Walkley, Alessandra d’Azzo and Leena Peltonen and involved almost 50 invited experts from around the world. From April 1-4 ISMRD simultaneously sponsored its first Family Conference, which featured a day-long program led by many of the scientists involved in the Workshop, disease focus groups for families affected by similar diagnoses and a Sunday strategy session for attending parents with the ISMRD Board of Directors. Other highlights included a Children’s Program involving games and activities while parents attended various meetings, a Thursday evening reception for scientists and families and a Gala Dinner Friday night. At the dinner, Christopher Llewellyn Reed premiered his forthcoming documentary film about Taryn Murphy and Alpha-Mannosidosis.
This conference enabled scientists and clinicians to share the latest techniques and strategies for furthering understanding and eventual treatment of all nine diseases. For families it was a rare chance to meet other parents and children affected by these diseases and to talk one-to-one with many of the participating scientists. Children who attended had more fun than the adults, thanks to a superb program developed by Children’s Program Coordinator, Sandy Miller. For ISMRD’s Board of Directors, it was a special opportunity to finally meet the constituency its serves and to share ideas that will make ISMRD a more effective advocate for all of them.
Reflecting the true global reach of these diseases, despite their very rare nature, attending families (like the scientists involved in the Workshop) came from diverse locations. Among the countries represented by our families were Canada, New Zealand, Australia, England, France, Norway, Latvia and the United States. Though language was quite a challenging obstacle for some, it did not prevent them from enjoying an overall exhilarating and informative experience. All of us were especially affected by children like Paul Grégoriadès of France and Stanislav Sovetchenkov of Latvia, whose smiles belied their inability to communicate in English!
The conference could not have taken place but for the dedication of several key people, who worked diligently for almost a year prior to April 1. Among those we would like to single out for our deep appreciation are the following:
- Steve Groft, Director of the Office of Rare Diseases
- Danilo Tagle, Ph.D., Program Director for NINDS
- The Organizing Committee comprising Dr. Steven Walkley; Dr. Alessandra d’Azzo and Dr. Leena Peltonen
Dr. Emil Kakkis, Senior Vice President of BioMarin Pharmaceuticals
- Sandy Miller and Debora Murphy and Gretchen Oswald of ISMRD.
These individuals gave willingly of both their commitment to the ideals of this conference, as well as their time, sacrifice and support!
This first conference on Glycoprotein Storage Diseases is but the end of one journey that ISMRD embarked upon when it formed in March 1999. We now face a future of continued challenges for these diseases, but one of great potential whose ultimate goals will be the realization of effective treatments and therapies for all