Healthcare and issues facing the rare disease community have been at the forefront of national conversations over the past 6 months. As an organization, we joined the National Organization of Rare Diseases (NORD) and the American Academy of Pediatrics in opposing the proposed House and Senate health care replacement bills. The position of both of these organizations is that these bills, if enacted, would be detrimental to those with MSUD and other rare diseases as they proposed to cut hundreds of billions of dollars from Medicaid, roll back key pre-existing conditions protections, and cause a rapid loss of insurance access. At the time of this article, efforts to repeal the Affordable Care Act have not been successful, but bipartisan efforts are needed to ensure adequate support to strengthen it. At the time of this writing it is unclear whether the current administration will continue subsidies which help insurers cover the costs of lower income Americans who cannot afford deductibles and copays. Another concern is that the administration is reducing efforts to promote enrollment. It is vital that you contact your Representatives and Senators to advise them of your position on health care legislation.

We urge our membership to call their Members of Congress to ask for their support of the following legislations:

  • The Medical Nutrition Equity Act of 2017 was introduced to the U.S. Senate by Senators Grassley (R-Iowa) and Casey (D-Pennsylvania). This bill requires coverage for medically-necessary foods through Medicaid, Medicare, the Federal Employee Health Benefit Program, and private insurance.
  • The Orphan Product Extension Now, Accelerating Cures and Treatments (OPEN ACT) could bring hundreds of safe, effective, and affordable medicines to rare disease patients within the next several years by incentivizing drug makers to repurpose therapies for the treatment of lifethreatening rare diseases. EveryLife Foundation, NORD, Global Genes, and Genetic Alliance are among the more than 220 patient organizations supporting this bipartisan legislation.
In addition to asking for the support of the above legislations, we also urge our U.S. membership to ask their Members of Congress to join the Rare Disease Congressional Caucus.The Caucus is a forum for Members of Congress to voice constituent concerns, collaborate on ideas, facilitate conversations between the medical and patient community and build support for legislation that will improve the lives of people with rare diseases. If your Members of Congress have already joined the Caucus, we encourage you to thank them!

Subscribe to the MSUD Family Support Group Mailing list ( home page) for advocacy alert email blasts. We also encourage you to subscribe and follow NORD, Global Genes, and Rare Disease Legislative Advocates (RDLA) to keep up with the advocacy issues that face the rare disease communities.

Lastly, we want to give big congratulations to the participants of the Global Genes Denim Dash MSUD Road Warriors team. The team ran/walked 5ks throughout the month of April to raise money for both Global Genes and the MSUD Family SUpport Group. The team raised over $10,000 for the Denim Dash as a whole with $5,314.56 being donated directly to the MSUD Family Support Group. Special thank you to: Ashley Bricker, Dana Chambers, Jordann Coleman, Tracy Clouser, Karen Dolins, Michelle Flanagan, Susan Mays, Chassidy Turner-Williams, and Sarah Wagner. You are all rock stars!

In The Professional Journals

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

Read More


In the 2016 survey of the membership of the MSUD Family Support Group, research for improved treatments and potential cure was rated “most important” by 90% of the responding members.

Read More

I want to help out, but I don’t know how

Have you ever wanted to help out the MSUD Family Support Group but were unsure about how to contribute? The MSUD Family Support Group is actively looking for volunteers to assist with advocacy and fundraising efforts.

Read More

NBS-MSUD Connect: Advancing MSUD Research And More


Rare disease registries have received attention in recent years because of the many ways in which they can benefit the rare disease community.

Read More

Sweet Odyssey

Artur Santos was born on January 18, 2002, the second son of Soraya and Idario Santos. They never imagined how their lives were about change as the second baby arrived.

Read More

MSUD Awareness Day

Now more than ever before we are hearing about National Awareness Days which are set by organizations or the government to bring attention to issues of importance.

Read More


A Child's Life

Subscribe to our mailing list

Signup To Our Newsletter Signup with your email address to receive news and updates