Time=Lives Story of the Week: Blair Van Brunt

“Patient participation is really critical in terms of reaching for a cure, the word that nobody wants to mention by the way.”

Diagnosed at age 2 with Shwachman-Diamond Syndrome (SDS), a rare disease affecting the bone marrow, pancreas and skeleton that makes it extremely difficult to digest food and fight off infection, Blair Van Brunt’s daughter Gracie was lucky to have her biggest advocate in her corner. With determination to help find a cure, Blair, like many other parents, quickly sprung into action and became an advocate, a cheerleader and an authority on the rare disease that her now 18-year-old daughter fights every day. SDS, which is often confused with Cystic Fibrosis, is normally diagnosed in the first few years of life and slows growth dramatically.

After their daughter’s diagnosis, Blair and her husband decided to get involved with fundraising right away. Their continued passion and involvement in the cause eventually translated into Blair’s placement on the board of the Shwachman-Diamond Syndrome Foundation in 2004 and then to her current position as president, a role she’s held since 2008. Founded in 1994, the Shwachman-Diamond Syndrome Foundation is now a national voice and advocate for patients and families with SDS.

Watch Blair’s story here.

Because there are only around 1,000 cases of SDS in the United States, it is difficult to rally patients together for a clinical trial, Blair explains. “We need to populate the path [to cures] with our data, our stories, and our drive and passion to get all of us to move towards the same goal.”

Learning to embrace her disease and fight for others, Blair’s daughter Gracie uses music as both an outlet and a tribute. Make sure to check out her website and listen to some her amazing songs, like Thomas’ Song, a project she’s working on with Pledge Music where 10% of all proceeds will go to the Schwachman-Diamond Syndrome Foundation.

To learn more about SDS and the Shwachman-Diamond Syndrome Foundation, visit http://www.shwachman-diamond.org/. Or Like their Facebook page.

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