[Stellatum]

I'm posting this here because in all my research (I went 15 months without a diagnosis) I never came across adult onset Tay-Sachs. The presenting symptoms sound like MG. I know that there are people here who are undiagnosed. I hope it doesn't cause anyone unnecessary worry for me to post this here. I just wanted to add adult onset Tay-Sachs to the list of diseases that people with undiagnosed neuro-muscular symptoms should consider.

http://well.blogs.nytimes.com/2012/0...-crooked-walk/
(that's the column that describes the symptoms.

The solution is here: http://well.blogs.nytimes.com/2012/0...d-walk-solved/

The featured doctor is my neurologist's partner.

Abby

[teresakoch]

I never realized that Tay-Sachs occurred later in life - thanks for the info!

Here's a link for general information, for anyone who may be interested:
http://en.wikipedia.org/wiki/Tay_Sachs

[Stellatum]

Infantile Tay-Sachs, which is fatal, involves a complete lack of a certain enzyme. Late-onset Tay-Sachs involves a deficiency of the same enzyme. It's extremely rare, but probably not as rare as we think, since it gets misdiagnosed as ALS and MS, I think.

My ancestry is 100% Ashkenazi Jewish on both sides. Since my troubles started with a weird gait and balance problems, and since I don't have eye involvement and I'm sero-negative, I may ask my neurologist what he thinks. There's a blood test. But I'm pretty sure that the variability of my symptoms, and the fatiguability, rules it out for me. I also don't have any of the psychiatric symptoms that are often associated with it.

Abby

[torahpsych]

My son has LOTS (Late-Onset Tay Sachs), without the psychiatric presentation that some other patients have. the presentations vary widely, so don't assume you don't have it just because you are missing some possible symptoms. Eye involvement is usually not a symptom (in one study, all vision and eye related issues were normal except for barely measurable differences in saccades), but almost all patients have issues with balance and gait.
best of luck

[Stellatum]

Originally Posted by torahpsych

My son has LOTS (Late-Onset Tay Sachs), without the psychiatric presentation that some other patients have. the presentations vary widely, so don't assume you don't have it just because you are missing some possible symptoms. Eye involvement is usually not a symptom (in one study, all vision and eye related issues were normal except for barely measurable differences in saccades), but almost all patients have issues with balance and gait.
best of luck

Thank you for taking the trouble to reply. We wish your son the best. When I first came across LOTS, I wondered why it took me so long to find it, since I spent so long trying to find a disease that matched my symptoms. But the reason is that LOTS is so very rare--I think I read that there are only 200 people in the U.S. diagnosed with it, though I understand that there are probably many people who have it who are misdiagnosed as having ALS and other diseases.

I have seven siblings (I'm the second oldest, and I'm 45), so if it's in the family, I expect it will show itself soon enough, though my mother had many miscarriages.

Abby

[Stellatum]

Torahpsych, if you're still there: can you tell me whether your son's LOTS (and other cases you've heard of) has variable symptoms? That is, are the gait and balance troubles worse some days than others, and worse during parts of the day? Thanks.

Abby

[John Pollman]

Hello Stellatum!

My name is John Pollman and I'm 50 years old. (soon to be 51) I was diagnosed with LOTS just about three years ago. I don't know if you do Facebook or not, but there are a couple wonderful groups over there. (one of them I created and administer)

If you haven't heard of it, I strongly suggest contacting the National Tay-Sachs and Allied Diseases foundation. *edit* They are WONDERFUL and there is a TON of support there.

Feel free to contact me any time with questions. I'm currently enrolled in two research studies for LOTS.

[John Pollman]

Stellatum,

I just read some of your previous replies. I do have LOTS, but I am one of only about a hundred confirmed cases in the entire United States. If you still haven't gotten a diagnosis, there is a pretty simple blood test to specifically diagnose Tay-Sachs.

I have three siblings, two older sisters, and one younger brother. They don't appear to be affected, but they are carriers. My 18 year old son has got to be a carrier, but he should be fine because there is very little chance that my wife is a carrier too.

Obviously, my parents are both carriers. Even in the case where both parents are carriers, there's only a one in four chance of being affected. Well my three siblings appear to be fine, so I guess I'm the lucky one.

The thing of it is that I'm actually glad it's ME that has to deal with this horrible disease and not my son. I know too many other families with infants who rarely see their third birthday.

[Stellatum]

John, thank you so much for your kindness. I don't have LOTS. I did finally get an MG diagnosis, though I seem to be in some sort of remission now.

We have a lot of people on this forum who are searching for a diagnosis. If any of them should consider LOTS, your post will be helpful.

Abby

Originally Posted by John Pollman

Hello Stellatum!

My name is John Pollman and I'm 50 years old. (soon to be 51) I was diagnosed with LOTS just about three years ago. I don't know if you do Facebook or not, but there are a couple wonderful groups over there. (one of them I created and administer)

If you haven't heard of it, I strongly suggest contacting the National Tay-Sachs and Allied Diseases foundation. *edit* They are WONDERFUL and there is a TON of support there.

Feel free to contact me any time with questions. I'm currently enrolled in two research studies for LOTS.

[John Pollman]

Hi Abby,

My condition is EXTREMELY rare, but I'm sure there are some out there that have been misdiagnosed. LOTS is so rare that they just don't test for it. Many who took years to finally be diagnosed with LOTS were told they had ALS, MS, etc.

As I said, it's a simple blood test to identify LOTS. It's just that many doctors aren't even aware that it exists!

Hope you're doing better.