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:, 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!

From The Chairman’s Desk

On July the 21st the MSUD Board of Directors traveled to Bethesda, Maryland for our annual Board meeting. We stayed at the Hyatt Regency in Bethesda.

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In The Professional Journals

A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate

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Cambrooke Foods Hosts Local Event

Cambrooke has been doing cooking demonstrations, social meet ups and educational events for patients, their families and the clinician’s that support them for many years.

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As our legislators headed home for their August break, Rare Disease Legislative Advocates got busy.

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20th Annual White Horse Beach Charity Golf Tournament

On July 29, 2017 Charlie O’Rouke and his committee held the 20th Annual White Horse Beach Charity Golf Tournament.

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MSUD Advocacy Update

Healthcare and issues facing the rare disease community have been at the forefront of national conversations over the past 6 months.

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A Child's Life

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