June 23-26, 2011

I had the privilege of representing the MSUD Family Support Group at this exciting meeting. Our group had an exhibit table featuring our brochure and my daughter Hannah (classic 17 years old) who with great animation educated many about our disease and support group mission.

Genetic Alliance “brings together diverse stakeholders to create novel partnerships in advocacy.” It “integrates individual, family, and community perspectives to improve health systems.” The organization is an active participant in translational research, ensuring that researchers, clinicians and families are united in their goals.

This meeting focused on innovations in the field of genetics as well as healthcare issues and the need for advocacy. It commenced with a “Genetics Day on the Hill” which I regrettably arrived too late to attend.

Sessions were divided into tracks. Topics included research, biobanks (tissue specimens held in a central location to be shared by all researchers rather than individual institutions), legal issues surrounding the retention of dried bloodspots from newborn screening, and collaboration and advocacy to create a future where services are centered on the health and wellbeing of families. The application of advances in human genome sequencing to clinical care and public health approaches to rare diseases were also on the agenda.

This was truly an exciting meeting to be a part of, as it emphasized how many smart and dedicated people are working hard to find ways to help those with genetic diseases. It was personally motivating, as so many of the “movers and shakers” in the community began their involvement due to personal experiences with genetic disease.

One memorable part was the “after hours” social. Starting at 10 PM and ending only when hotel staff required it at 12:30 am, we were led in a music fest by none other than Dr. Francis Collins, Director of the NIH! Along with his musical associates on the fiddle and guitar, he led us with his guitar (which was decorated with a double helix in honor of his leadership role in the Human Genome project), keyboard, and voice in song selections from folk to rock.

This was a no-miss conference for me, and I hope to represent our group at future conferences. And to make sure I arrive in time to advocate on the Hill!



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A Child's Life

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