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PMSF leads coalition to increase research

By Mark Vieth
PMSF Legislative Advocacy Consultant/Sr. Vice President, Cavarrochi Ruscio Dennis Associates

Gastrointestinal (GI) symptoms –such as constipation and reflux — are one of the top quality of life concerns for individuals with Phelan-McDermid Syndrome (PMS).  To date, little research has been conducted at that National Institutes of Health (NIH) on GI complications for PMS-diagnosed individuals, and for this reason, the Phelan-McDermid Syndrome Foundation (PMSF) has been actively urging the NIH to increase its research and coordination in this area.

GI issues are not unique to the PMS community, and there seems to be a strong correlation between GI complications and other neurological conditions, including autism spectrum disorder, Rett Syndrome, and SYNGAP1.  PMSF has a strong working relationship with these organizations, and we quickly realized that we can make a stronger case with NIH by working together as a coalition.

On October 31, 2018, PMSF was joined by 13 similar patient advocacy organizations in sending a letter to Dr. Francis Collins, the Director of the NIH, requesting a coordinated effort at the NIH to better understand the incidence and possible interventions to these problems. The letter encourages NIH to convene a workshop involving the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), the National Institute of Environmental Health Sciences (NIEHS) and the National Center for Advancing Translational Sciences (NCATS).

On November 20, 2018, Dr. Collins responded to our letter, stating that “we at the NIH have a great interest in cross-disciplinary research topics and we are aware of the growing research suggesting that gut-brain interactions affect health and disease in a variety of ways.”  Dr. Collins pledged that the relevant NIH Institutes and Centers “will work together as quickly as possible to find ways to advance our understanding of these issues and improve the quality of life for those affected.”  Since the beginning of the new year, PMSF has been interacting with NIH staff to schedule a workshop later in the year.

Also, on December 10, 2018, PMSF submitted comments on this topic to the NICHD as part of the strategic planning process that is currently being undertaken by the institute.

116th Congress sworn in amid chaos and opportunity

On January 3, the House and Senate members of the 116th Congress (2019-2020) were sworn into office to commence the first session of the new Congress.  The new Congress also marks a change in power in the U.S. House of Representatives, with Democrats now in the Majority, while Republicans retain the Majority in the U.S. Senate.  The House elected Representative Nancy Pelosi (D-CA) to serve as Speaker, her second time leading the House since her first tenure as Speaker from 2007-2011. The 116th Congress includes 10 new Senators and 101 new Representatives.  The party breakdown in the new House of Representatives is 235 Democrats and 199 Republicans, with one congressional race in North Carolina still unresolved. In the Senate, there are now 53 Republicans and 47 Democrats, a total that includes two independents who caucus with the Democrats.

The new Congress was sworn-in in the midst of a partial government shutdown that began on December 22, 2018.  After a month-long shutdown, Congressional leaders reached a deal with President Trump to re-open the government temporarily for three weeks.  Once the deal was announced, the House and Senate on January 25 quickly enacted a continuing resolution to fund until February 15 the federal agencies impacted by the shutdown.

Fortunately, the NIH was not directly affected by this shutdown, because its full budget for fiscal year 2019 was approved by Congress last fall when it enacted the Defense/Labor-Health and Human Services-Education Appropriations bill.  NIH’s budget is funded through September 30, 2019 and will be protected should the government experience any additional partial shutdowns over the next few months.

Despite this chaotic start to the new year, PMSF remains optimistic that 2019 will be a good year for research on PMS.  Congress appropriated an additional $2 billion to NIH, and PMSF will be working to ensure that a portion of this funding is invested in new research to gain a better understanding of PMS, and ultimately find a cure for the disorder.  The Foundation will continue working with members of the House and Senate Appropriations Committees to provide better direction to NIH, particularly on the GI issues referenced above, and other aspects of the disorder.  PMSF will also continue to seek new funding sources, including the Department of Defense, for research on PMS.

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