ISMRD Family Conference (by Paul Murphy, President ISMRD)
There were so many highlights to our conference, many not readily interpreted into words, that we cannot possibly fit them here. We owe much to the families who traveled long distances to join us, and to the professionals who gave their time and expertise, so that we might leave more knowledgeable and empowered than when we arrived. Above all, thank you to the Office of Rare Diseases for supporting conferences on rare diseases such as this!
Children’s Program April 2-4:
Not to be outdone by their parents, children who attended ISMRD’s Family Conference were given special focus through a wonderful program of activities Friday to Sunday.
Thursday & Friday, April 1-2:
Day One and Two of the NIH Scientific Conference was one filled with difficult and technical information for families. Families were invited to observe these all day sessions as part of their conference registration, and gave many their first opportunity to see and hear those who have been or are considering studying their diseases. At the conclusion of the Workshop Friday afternoon, ISMRD President Paul Murphy led a group of parents and children to the podium to personally thank the Workshop participants for their involvement. Late afternoon Friday featured focus groups for families with similar diagnoses.
Thursday evening ISMRD sponsored a reception for families and scientists and Paul Murphy presented Dr. Steven Walkley with a special plaque in recognition of his crucial part in this conference. Friday night ISMRD sponsored a gala dinner, at the conclusion of which Christopher Reed premiered his film documentary about Taryn Murphy and Alpha-Mannosidosis.
Saturday, April 3:
A day-long series of presentations from professionals marked Saturday’s events. The day was divided into two parts: What Is Known and What Can Be Done. It began with a humorous, delightful and understandable overview of Lysosomal Diseases by Dr. Kelley Moremen. Other presentations looked at the molecular mechanics of Glycoprotein Diseases; the role animals play in research; the clinical impact on patients and how to manage the symptoms; potential therapeutic remedies in the future; global cooperation among Lysosomal Disease organizations, science and the biotech industry and, finally, blood and tissue banking as a way to accelerate understanding of these diseases. At the end of the day we were all tired, but full of questions and ideas!
Sunday, April 4:
Families met for four hours around a large combination of tables, facing one another and sharing their hopes for the future. This hope was manifested in concrete ideas for ISMRD’s mission, which Board Member, Gretchen Oswald, recorded on large flip-chart pages. The meeting commenced with a brief summary of Newborn Screening developments from Dr. John Hopwood, which all felt was an important area for early and accurate diagnosis of these and other Lysosomal Diseases. Following this parents shared their common experiences and then participated in a free flowing exchange of ideas about how ISMRD can more effectively carry out its mission.
All parents present were resolute in their desire that Glycoprotein Storage Diseases take a more prominent place in global research projects. Each one attending left with new friendships and a common desire to ensure the continued momentum of the conference’s accomplishments.