#ShowYourRare and Raise SMA Awareness on World Rare Disease Day

Rare Disease Day is today, February 28! And we’re calling on our entire spinal muscular atrophy community to get involved.

Rare Disease Day is important to us because it is a time for individuals impacted by a rare disease—or those whose loved ones are impacted—to come together. It is a time for us to raise public awareness of the rare disease community. And it is a time when we renew our commitment to advocacy for the rare disease community.

Rare Disease Day was first observed on February 29, 2008. That date was chosen because February 29 is a rare day, celebrated once every four years. Now, Rare Disease Day is held on the last day of February each year.

According to the NIH’s Center for Genetic and Rare Diseases, a disease that impacts fewer than 1 in 2,000 people is considered rare. Though these individual diseases are rare, the total rare disease population is large. Approximately 1 in every 20 people is affected by a rare disease. This includes the estimated 10,000 people in the US alone who are living with SMA.

Most rare diseases are genetic, but a disease does not have to be genetic to be considered rare.

Research Brings Hope to Those Affected by Rare Disease

Each year, the Rare Disease Day organization selects a theme for the year. This year’s theme is research. Through research, we can develop effective treatments for SMA, and identify the best way to care for those affected by SMA. In many cases, it is difficult to generate the investment needed for research into rare diseases. But thanks to the dedication of our community, the pace of SMA research is accelerating.

Several months ago, we announced that we will give $5 million to research in this current fiscal year. That is double our investment for any single prior year. This includes:

  • Basic research funding, to help uncover new ways to treat SMA.
  • Drug discovery funding, to help convert basic research ideas into drug candidates that can be tested in clinical trials.
  • Clinical research funding, focused on increasing clinical trial site capacity, educating physicians and families to shorten the time to diagnosis of SMA, and engaging with the FDA and other regulatory partners.
  • The Cure SMA community update survey, to collect data that will improve outcomes for those with SMA, ensure favorable insurance coverage for newly approved or future treatments, and lead to a greater understanding of the impact of SMA.
  • Over $1 million to establish a network of SMA clinical care centers, connected by a data registry to help improve patient care.
  • Grants to increase capacity at 13 SMA treatment centers across the US, facilitating access to treatment and care.
  • A mentorship program to train physical and occupational therapists to provide quality care for SMA.
  • Funding to support the research needed to move SMA newborn screening forward, plus grants to support start-up costs for screening in several states across the US.

SMA Newborn Screening: Changing the Course of SMA for the Next Generation

Advocacy, Rare Disease Day’s other primary focus, is also especially important to our community this year. That is driven by the rapid progress in SMA newborn screening.

Earlier this month, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommended that newborn screening for spinal muscular atrophy be implemented nationwide.

This decision is an important step toward our goal of having every baby born in the United States screened for SMA. The recommendation now goes to Health and Human Services Secretary Alex Azar for final approval.

We will work alongside our advocates to push for a quick approval by HHS Secretary Azar. It is also vital that we continue advocating in all 50 states, since the final decision on implementation rests with each state.

How You Can Get Involved

If you have not already, please sign up to be an advocate. When you sign up, we’ll notify you of opportunities to advocate in your state or district.

#ShowYourRare on social media by changing your profile picture to include our Twibbon campaign, and be sure to visit our website or follow us on Facebook or Twitter for updates.

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