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Karen DolanI'm always on the lookout for new research to report on. In December I had the opportunity to attend a conference on the future of newborn screening in Bethesda, Maryland given by the organization Genetic Alliance. This was exciting enough, but it turns out that I got a two-for-one deal. Next door scientists and others were gathered to learn about "Research Challenges in Central Nervous System Manifestations of Inborn Errors of Metabolism." Read the Genetic Alliance article for a brief description of the organization and the conference, and be sure to browse through their website. It has a wealth of information, and teaches us how to advocate to improve the lives of those in need.

As more children are being diagnosed through newborn screening and receiving appropriate care from infancy, they are less affected by the physical and cognitive ailments that have previously been typical of those with this disease. Despite maintaining good control of blood leucine levels, though, many of us have observed that our children struggle emotionally and in school. Unfortunately, there is little to guide us in the scientific literature. Without this support, schools may deny services causing our children to continue to struggle in these domains. Due to my own frustrations in this area, I was thrilled to come upon the article "Screening for Cognitive and Emotional-Social Problems in Individuals with PKU: Tools for Use in the Metabolic Clinic" published in the journal Molecular Genetics and Metabolism in January 2010. While not specific to MSUD, the authors do make recommendations for testing that can be done in the metabolic clinic or in the schools. Even more exciting, the authors, Susan E. Waisbren, PhD and Desirée A. White, PhD at Harvard University and Washington University respectively, have created a network for practitioners in the field to collaborate. Find out more at their website: http://gmpsych.org, and encourage your own practitioners to get involved. Hopefully they will soon publish their experience with MSUD, enabling us to help guide our children through this poorly understood terrain.

We have a vibrant "families" section this issue. You'll all be thrilled to see that we have not 1 but 3 wedding announcements to share with you, as well as other family updates. As you read through the newsletter, please think about ways that you may contribute to future issues. I look forward to seeing you at the Symposium in June!

Melvin Carruth

This letter is a tribute to my brother Melvin Carruth! We believe he is one of the oldest living African Americans with Maple Syrup Urine Disease.

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NBS-MSUD Connect: Your One-Stop Shop For MSUD Resources

NBS-MSUD Connect was launched as part of the Newborn Screening Connect patient registry (NBS Connect) in 2013 through a partnership between the Department of Human Genetics at Emory University, the Maple Syrup Urine Disease (MSUD) Family Support Group and other key stakeholders.

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Cambrooke Therapeutics

Cambrooke Therapeutics continues to expand its line of delicious and nutritious low protein foods to help improve the lives of individuals with Inborn Errors of Metabolism such as MSUD.

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Updates To Nutrition Management Guidelines

The Nutrition Management Guideline for MSUD was first published in 2014. Since that time, there have been reports of new research and experiences that have prompted updates of the guideline.

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Emory Metabolic Camp 2018 Announcement

Join us June 18-23, 2018 for the 24th Annual Metabolic Camp at Emory University in Atlanta, GA!

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From The Chairman’s Desk

As I sit here reflecting on how much the care and treatment of MSUD has changed over the years, my mind goes back to 1978 when our son Keith was born.

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MSUD Advocacy Report

Medical Nutrition Equity Act

The Medical Nutrition Equity Act (MNEA) would require all private insurance plans (state regulated or self-insured/self-funded) and federal health programs, including Children’s Health Insurance Program, Tricare, Medicaid, Medicare, and Federal Employee Health Benefit Plans, to provide coverage for formula and low-protein foods for all children and adults with MSUD.

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The MSUD Family Support Group Is Excited To Announce Their Participation In The Million Dollar Bike Ride

The MSUD Family Support Group is excited to announce their participation in The Million Dollar Bike Ride

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19th Biennial MSUD Symposium

I can’t believe that almost two years have passed and it is time for another MSUD Symposium! I am especially excited about this conference because I’ve built in extra time for social interaction.

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Transform

A Child's Life

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