In the past, those affected with BCCNS have had to endure repeated painful, debilitating treatments for the many manifestations of the syndrome, resulting in significant morbidity with no hope for a cure in sight. On a daily basis, the Network receive calls and e-mails from families pleading for a cure. In keeping with our motto, “Advancing Awareness . . . Finding a Cure,”
The BCCNS Life Support Network, its committed staff and Medical Advisory Board, have devoted significant efforts and means to convince researchers to spend their limited time, effort and resources to studying Gorlin-Goltz syndrome and potential treatments. Educating our members of the trials that are available to them remains a high priority. However, we still continue to have relatively small numbers of our members who choose to participate, although a handful of devoted members have completed more than five trials each.
With the addition of some new, proactive, therapeutic trials treating the very PTCH1 gene at the 9q22.3 chromosome that causes this multi-faceted syndrome, and all its manifestations, we now have real hope in targeted gene therapy. This is a significant departure from those therapies that merely treat the symptoms. We can be proactive and preventative rather than reactive and surveillant.
Now is the time to “stand up and walk the walk” by becoming involved. We can no longer afford to “sit back and let others be the guinea pigs”. If the patients who are directly affected do not support and enroll in these trials, then we run the risk of losing the interest of the investigators at key research, teaching, medical facilities who have, in collaboration with pharmaceutical companies, listened to our pleas and “stepped up to the plate” to study this rare condition.