Shedding Light on Rare Disease Brings International Community Together
Overwhelming isolation. That is what Shelley felt when her son Michael was diagnosed with Barth Syndrome (BTHS) in 1998. At the time of Michael's diagnosis, there were only two documented cases of Barth Syndrome in the world. BTHS is a rare genetic disease found only in males, and it is fatal. Heart problems, frequent bacterial infections, and delayed growth are common symptoms. Life spans vary, and there is currently no cure, with very few treatment options.
Shelley knew that further research into this rare condition was dependent upon her finding other boys diagnosed with BTHS. Sooner than she expected, Shelley met another mother online whose son had also been diagnosed. They quickly created a very basic website to find other families affected by the rare condition, and soon all these people started connecting on the site. Inspired, Shelley and the team formed a nonprofit, the Barth Syndrome Foundation (BSF). With the help of TechSoup's customer service team, BSF was able to create a more sophisticated and professional-looking website by using a donated Adobe Creative Suite license.
Now going on 26 years, the Barth Syndrome Foundation has been able to raise over $3 million and fund 78 research grants. However BSF is much more than a fundraising vehicle. It is a support system for over 160 families in 21 countries. Regional gatherings and an annual conference have helped foster this supportive community.
But for the many times families cannot get together in person, another tech donation via TechSoup has made all the difference. By using a donated copy of Citrix GoToMeeting, BSF is able to connect its dispersed families for live online video meetings so they can support each other in times of need, regardless of their geographical locations.
Shelley's son Michael passed away on December 9, 2009, at the age of 23. Grateful for the time she had with him, Shelley passionately continues her work with BSF.
