Valerie (Shelley) Bowen
Shelley has first-hand knowledge about the the importance of a diagnosis. For two years after both her sons, Evan and Michael developed heart failure, Shelley spent every spare moment in search of a diagnosis. In 1990, she received her first glimpse of hope when she read a 1983 journal article characterizing a then nameless disorder by Dutch Pediatric Neurologist, Prof Peter Barth. She looked beyond the title describing the disease as fatal to see hope. Unfortunately, hope is not a treatment to keep people safe from harm. Just two hours after reading the paper Evan’s life ended.
For six years following Evan’s death Shelley searched for other families who had a child with Barth syndrome. She soon learned the rarity of the condition required her to become the expert on Barth syndrome to be in informed advocate for her son.
In 1996, at the age of ten, Michael’s heart worsened. Shelley turned to Prof. Peter Barth for help. Six weeks after making contact with Prof. Barth, Shelley and Michael went to Amsterdam to meet with Dr. Barth. During Michael’s final appointment Shelley once again received hope from Prof. Barth when he told her “There are others, you should find them, together you can help each other.” In 1998, two years after meeting Dr. Barth, Shelley found others. She built a website which attracted families from all over the world who shared a similar experience.
She and two other mothers organized the first gathering of families and researchers in Baltimore, Maryland in 2000 that would bridge the gaps in knowledge about Barth syndrome. During that meeting the families who had first met over the Internet unanimously decided to develop an organization that would end the suffering and loss of life caused by Barth syndrome. Shelley and four other parents were the founding members of the Barth Syndrome Foundation, Inc. in 2000. In 2009 Michael passed away at twenty-three years of age. Shelley’s commitment to the families of the Barth syndrome community did not waiver.
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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): and update. Barth PG, Valianpour F, Bowen VM, Lam J, Duran M, Vaz FM, Wanders RJ. Am J Med Genet A. 2004 May 1;126A(4):349-54