Haven't been around here too much lately, I've been busy working and such. I thought I'd give you an update on what has been going on lately.
I've been doing pretty well for the past few months. I'm still working three to four days a week and it's going pretty well. Work has really helped my physical as well as mental well being. I haven't worn my leg braces in over six months, or used my walker in over five months! My falls have greatly reduced and it's getting easier for me to get around.
There is a web site called clinicaltrials.gov that I check once in a while to see if there are any new studies being done on Tay Sachs. I checked it yesterday and there was a new one listed. It is a natural history study being done out of Massachusetts General Hospital. The doctor running it is Dr. Florian Eichler, and I have met him a couple times at the annual NTSAD Family Conference. I sent an email to them, and literally TWO MINUTES after I hit send, my phone rang and it was them! We talked for a few, and it looks like I may be headed to Boston some time in November to get enrolled in the study and get started on all of the tests and data collection. This will be the fourth study that I am enrolled in. These studies are collecting data so that they can develop "outcome measures" which are required by the FDA to get approval for any new treatments. They are working on possible gene replacement therapy, but it may be a couple of years away before it's ready. But if we get the data collected now, we can hit the ground running as soon as the treatment is available.
If this treatment does become available, I will be one of the first people to try it. That is a little scary, but somebody has to do it! We won't make any progress without research. All I can say is that I REFUSE to sit back and let this disease destroy my life without giving it the biggest fight I know how to.
Thank you all for the support you give me here! I'll keep you updated as things progress.