February 27-March 1, 2017

I was privileged to represent our group in Washington DC for Rare Disease Week. The week began with a day at the National Institutes of Health (NIH), where we heard from leading scientists about efforts to advance diagnosis and treatment for rare diseases. The following day was an advocacy training session where issues of concern to the rare disease community and ongoing efforts to impact public policy were discussed. Much of the discussion centered on ways in which the new Congress and administration will impact rare disease policy. This was followed by a day on Capitol Hill where we visited the offices of our representatives in Congress and our Senators to ask for their support on key issues. Here is a brief summary of the events of this inspiring and empowering week.

10th International Rare Disease Day at the NIH

The theme for 2017 Rare Disease Day at the NIH was Research. There are 7000 different types of rare diseases, and 80% are genetic. Treatment is available for fewer than 500 of these.

The international rare diseases consortium (www.irdic. org) was established in 2011 with the aim of fostering international cooperation in rare disease research. The goal is to transform rare disease research to improve efficiency and effectiveness by sharing knowledge, data, infrastructure, expertise and viewpoints.

FDA and Rare Diseases

The FDA evaluates drugs for rare diseases through its Office of Orphan Products Development. This office has the flexibility to expedite the approval process for drugs for rare diseases when deemed necessary. The Prescription Drug User Fee Act allows private companies to pay a fee to the FDA for expedited review. The speaker noted that well organized groups can help a drug company move along the drug approval process.

The 21st Century Cures Act was signed into law by President Obama on December 13, 2016. It provides incentives for the development of treatments for rare pediatric diseases and increases funding for NIH research. The current administration has not made their perspective on this act clear. It must be reauthorized by September 30, 2017 or it will be dropped.

The FDA is currently without a commissioner as one has not been named by the current administration yet. The concern is that this may hamper initiatives.


Everylife Foundation for Rare Diseases (

This organization advocates for policy and regulatory reform through partnerships with rare disease organizations. At the state level, they are working to improve newborn screening by adding diseases to the list of those currently included. (Our organization signed on as a supporter of legislation in Florida – see "NEWBORN SCREENING LEGISLATION")

They have a free tool to help individuals and groups with their advocacy efforts, and publish monthly newsletters. Important websites include: Rare Disease Congressional Caucus

This caucus provides a platform for representatives to discuss issues of importance to the rare disease community. They also hold quarterly briefings with patients, advocates, and providers. Everyone is encouraged to ask their legislators to join. We can be effective by using our personal stories.

It is important to lobby so our voice is heard. Items of current interest include:

OPEN Act: This piece was dropped from the 21st Century Cures Act. It provides incentives for the development of orphan products. While passed in the House, it did not reach the Senate and has been resubmitted. New legislation must be passed by Congress and signed by the president by July 30 or the bill will die. Patient organizations must sign on.


Affordable Care Act (ACA/Obamacare): This was discussed from both the Democrat and Republican perspectives. The Democrat perspective is that any changes must protect those with preexisting illnesses and maintain the regulation against annual and lifetime caps for insurance reimbursement. It was noted that we now have the lowest rate of uninsured people/families in history and that health care costs, while still increasing, are doing so at the lowest level of increase in years. The ACA has also increased treatment for opioid addiction through Medicaid expansion. The Republican perspective notes the need to stabilize the individual market place, and proposes tax credits which will be based on age, not income. Participants asked how people will be able to afford the level of insurance they need with tax credits based on age rather than income (as opposed to subsidies, families must be in a high enough income bracket to have a tax bill high enough to support the credits).

American Academy of Pediatrics: Supports the ACA and keeping Medicaid and Children’s Health Insurance Program (CHIP) strong. It was noted that the rate of coverage for kids is now 95%, and 36% of children get their coverage through Medicaid and CHIP. 44% of children with rare diseases receive Medicaid. The concern is that block grants and caps will reduce the level of care as states won’t be provided with adequate funds according to need. CHIP was created in 1997 to provide insurance to children whose families cannot afford insurance but have incomes too high to qualify for Medicaid. Funding for this program will run out at the end of September. The Academy is concerned that current proposals for health care will cause children’s health to suffer.

NORD: Supports the ACA which created out of pocket caps, protecting patients against exorbitant costs and lifetime limits. Before ACA, individuals were put into high risk pools which were problematic for those with rare diseases due to waiting lists, enrollment caps, and significant out of pocket costs. They also oppose any weakening of state Medicaid programs as this will disincentivize states from covering care and orphan drugs.

With the recent withdrawal of the Republican plan to replace the ACA, it is imperative that congress act to strengthen it.

Advocacy: Ask your representative why they did or didn’t support legislation important to the rare disease community (ex OPEN Act). Build a relationship. Tell your personal story and be passionate. Use social media and include calls to action.

Always thank them for the work they do.


The MSUD Family Support Group is currently funding several research projects and we are proactively looking for researchers interested in developing new treatments or finding a cure for MSUD. Significant funding is necessary if we are to accomplish this goal.
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