Celebrating Hope for Rare Diseases

Last night I had the pleasure of attending NTSAD's annual Tay-Sachs benefit at Genzyme Center. As many of you know I also work at Genzyme researching rare diseases, so I was very honored when they asked me to attend the event!  A small community of people gathered at Genzyme Center to raise funds to give hope to patients and families with Tay-Sachs disease.  Tay-Sachs disease is a fatal genetic disorder caused by the absence of a critical enzyme, Hex-A, which leads to progressive neurological disorders. While there is currently no cure for Tay-Sachs, Hope is on the Horizon (which was also the theme for the night :) ). The NTSAD (National Tay-Sachs and Allied Diseases)  has hopes to raise enough money to start the first clinical trial in 2012. Last night I met families who lost their children to this devastating disease years ago when there was no hope for a cure. Today there is hope with gene therapy, but they are still in needs of funds to further this research.  I also met two very special young girls who were diagnosed with an late-onset form of this disease and are waiting for a cure.  If you would like to donate to help fund the first human clinical trial please visit http://www.ntsad.org/.

         with Dan Kirschner and Skip Irving             at Genzyme Center in Cambridge

                with an NTSAD family  

                           with Randy Barry

Yours,

Alida

Miss Massachusetts USA