Updates from our Tay Sachs Disease Conference Part 2

Hello all,
I know it has been so long overdue since I have posted an update let alone an update about our experience at the Tay Sachs Disease Conference in St. Petersburg, Florida in April 2010. Much has happened these past few weeks with Gavin health wise, but overall he is ok. We have recently switched his feeding to an amino-acid based rather than milk-based formula which is helping him tremendously. We have had to suction him more frequently as his secretions continue to be out of control, but the suction machine and Robinul medication (which reduces secretion) is helping things to be more manageable. Anyhow, since my last post about our conference experience, we have gained many new and amazing friendships with people from all over the world who continue to keep in touch with us frequently, thanks to Facebook and emails. On top of the amazing support sessions for parents, there were other wonderful and innovating sessions that we were looking forward to at the conference. One of them were the
symptoms management session, were Ferd and I learned about great topics such as secretion and seizure management, the myths of Hospice (and that it does not necessarily mean a “death sentence”)sensory stimulation, and the greatness of “The Cough Vest” which is a vital equipment to help reduce respiratory complications. The next and exciting session that Ferd and I have been waiting for was the latest on Gene Therapy and other research updates/breakthroughs. This was truly the moment and one of the main reasons for attending the conference and that is, to hear about the hope for the cure. It was a bit overwhelming at first as we gathered in several small groups listening to all the information from these doctors and scientists from the Gene Therapy consortium and other institutes, but truly it was amazing. One of the scientists showed us a confidential slideshow of a cat with Tay Sachs Disease. The cat had lost a lot of weight, was weak and was barely walking. 7 months later after the Gene Therapy experiment on the cat, The cat was full of energy and had gained a lot of weight; It was able to walk and play and this was so astonishing. So astonishing that some of the parents in the group session also got so emotional thinking, “can’t we just do the gene therapy now, obviously it is working with the cat right?” But unfortunately as we were told, “FDA cannot allow a human trial based on the success studies with a cat as a cat’s brain cannot be compared to a human’s brain.” I began to feel so frustrated even if it all made sense. Fortunately, however, one of the scientists began to speak and said “we are more advanced and closer to a cure now than we ever were.” One of the amazing breakthroughs that we learned in the conference was that a farmer from Texas had discovered that his sheep were afflicted with Tay Sachs Disease. The farmer had discovered the problem with his sheep after consulting with doctors at the veterinary medicine school at Texas A & M University. Miraculously, the farmer and his wife are breeding the sheep with Tay Sachs Disease and are donating them to the Gene Therapy consortium to support further research. This was the best news that we have heard in months; Ferd and I were so elated at how far along the research has come. Ferd and I were lucky enough to meet the farmer as he attended the conference as well. It was told that “Tay Sachs sheep have great potential to advance for a cure because their brains are closer to human size.” The hope truly did seem closer. The next challenge was to begin the trials of Gene Therapy on sheep and if the sheep lived long at least for a year with continued progress, then human trials would soon be possible. It still seemed like a long road, but truly the conference reminded us that the cure is really close. The scientists are estimating that human trials may soon start at the end of 2011. For now, we are focusing on keeping Gavin as healthy as possible so that when human trials are finally here, Gavin will be ready for it. By the way, the gene therapy trials on sheep have finally started this month in May 2010. We are getting closer!!! Thank you for continuing to pray for Gavin. I apologize for the lengthy update, but I hope you find it worth it.

Category : Blog