Shelley Bowen is a founder and former Chair of the Barth Syndrome Foundation.  She has served in many positions of the organization since she and four other parents co-founded it in 2000.  She currently serves as Director of Family Services and Advocacy.  

Shelley’s activism was born out of necessity when her two sons, Evan and Michael were diagnosed with 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 word “fatal” in the title to see hope.  Unfortunately, hope alone is not sufficient to keep someone with Barth syndrome safe from harm.  Just two hours after reading the paper, Evan’s life ended. She learned the cruel truth there was no time to waste because time is a precious luxury someone with Barth syndrome cannot afford to have squandered. 

For six years following Evan’s death, Shelley searched for others diagnosed 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, after Michael fell ill again.  She turned to Prof. Peter Barth for help.  Six weeks later, she and Michael were in Amsterdam.  During Michael’s final appointment, Prof. Barth told her “There are others.  You should find them. Together you can help each other.”  In 1998, she found others and she has left no stone unturned in trying to find them since. 

Michael died in 2009.  Shelley has one daughter.  She is the guardian of her special needs brother.  She lives in Newberry, South Carolina with her husband Michael Sr. where she continues the quest that she began in 2000 which is to end the suffering and loss of life caused Barth syndrome. 

Her favorite piece of advice… Appreciate the moments. Moments are better than nevers.

PUBLICATIONS

Neutropenia in Barth syndrome:  characteristics, risks and management. Steward CG, Groves SJ, Taylor CT, Maisenbacher MK, Versluys B, Newbury-Ecob RA, Ozsahin H, Damin MK, Bowen VM, McCurdy KR, Mackey MC, Bolyard AA, Dale DC. Curr Opin Hematol. 2019 Jan;26(1):6-15. 

Barth syndrome. Clarke SL, Bowron A, Gonzalez IL, Groves SJ, Newbury-Ecob R, Clayton N, Martin RP, Tsai-Goodman B, Garratt V, Ashworth M, Bowen VM, McCurdy KR, Damin MK, Spencer CT, Toth MJ, Kelley RI, Steward CG. Orphanet J Rare Dis. 2013 Feb 12;8:23.

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