WOW!
So sorry to hear this Jon. I haven't been around here much lately. I've been spending most of my online time on Facebook. I'm in a couple different support groups for Tay-Sachs. I try to check in here now and then and just saw this post.
Like others have said, do what the doctors tell you. I know what you're going through, waiting for tests/results can be the worst part. One thing I can say is try to stay calm and not assume the worst! I know that's easier said than done. Everyone kept telling me the very same thing and it was nearly impossible to accomplish. Two years ago, I spent three months thinking that I only had 2-3 years to live after an initial diagnosis of ALS. Those were the three worst months of my life. When you have a doctor flat out tell you that you have ALS and there's nothing anyone can do about it really makes it hard to not think the worst.
Just before Christmas in 2011 I got a call from my neurologist. He had finally gotten the results of a bunch of genetic testing that they had done. He told me that I did NOT have ALS. That was about the best phone call I had ever received. He then told me that I did have Late Onset Tay-Sachs disease though. This is no walk in the park and something I wouldn't wish on anybody. But thankfully it is not generally fatal. It is still terrifying and I'm trying to learn how to deal with the changes that I've already had to deal with and the ones that are yet to come.
I guess I was actually pretty lucky because I very quickly found the correct doctor who figured out what was going on. My family doctor is the one who told me that I had ALS. I saw a neurologist a few days later and he did a workup. He said that it looked like ALS, but there were some signs that he was looking for but didn't see. He did some more tests and about 10 days later I went back in to discuss the results. They were inconclusive so he sent me to an ALS specialist. It took about a month to get an appointment with him. He too did a workup and said the same thing. He has been in the specialty for over 20 years and he said that it was a very slim possibility, but he wanted to check me for Tay-Sachs. He said that in his 20+ years, he had only seen two other adults with Tay-Sachs. They did the tests and they came back positive. Not good and my life has really changed, but at least I'm not dieing! There are only roughly 100 confirmed cases of what I have in the entire country. I just happened to end up in the office of a doctor that had seen it before. Many doctors don't even know about the condition.
About a year ago I found an online support group for LOTS patients. In communicating with them I've found that many have been dealing with it for 10-20 years or more. But most of them were bounced around from doctor to doctor for years before they actually figured out what was wrong. It only took my doctors three months. So I hope that you too can get to the right doctor and they figure it out quickly and they can get you fixed up. In my case there is no treatment available, but I continue to hope that the work they're doing will come up with some way to at least treat what I'm dealing with.
Good luck!
