For What It's Worth

[Claire]

Some here on the forum have heard me talk about being tested at NIH this past October. I was being tested for SCA6 - a rare genetic disorder that causes gait and balance problems as well as other neurological issues.

They were very thorough - actually testing for SCA6 as well as 8 other possible forms of SCA. The tests were negative. That is good news in one sense. I do not have this nasty thing I did not want BUT I am now once again without any diagnosis.

My observation is this: GPs know a little bit about a lot of things and not much about anything. Specialists know a lot about their own speciality and not too much about anything outside of that speciality. As soon as tests show you don't have what they thought you had you are out the door.

Right now I am at a standstill. I do need the test for the genetically determined gluten sensitivity (I do not have Celiac). As insurance won't cover that test, it will wait for my budget to catch up after the holidays. If that too is negative then there is really nothing else to look for. They define it as idiopathic cerebellar ataxia - meaning 'of unknown origin'.

NIH did suggest that I may have one of the remaining 13 SCAs that they know little about and having no testing parameters.

NIH report did specify - in three separate places - a gluten free diet. This supports what I have been writing here about how neurologists are promoting gluten-free diets for patients with neurological symptoms.

This might also serve as a warning to those thinking that intestinal damage alone is the threat from gluten. Neurological damage is a very real threat - not to be ignored. Claire

[Nantzie]

Amen!

I've found that most of my gluten symptoms are neuro/psych, with some stomach problems. I think that once all is said and done when it comes to researching gluten-related disorders, that they will find that it's a group of conditions rather than celiac vs non-celiac.

[SurreyGirl]

..... I do need the test for the genetically determined gluten sensitivity (I do not have Celiac). ....

Hi Claire

Don't know what to say... Is that the HLA test/s that you are thinking of next? At least you are dealing with people who know something about gluten (around here they look at me like I am totally nuts).

I would also be interested to know whether anyone anywhere has actually been recommended gluten-free diet for ataxia on the basis of any tests? Or is it done on the basis of scientific research? Even our pediatrician, despite reading Dr H and L Cordain's papers, still calls the improvement on gluten-free diet "anecdotic evidence". Having said that, at least he supports it.

We are still waiting for appt with Dr H. In the meantime I started sublingual vit B complex on Alex, because school said that he gets quite anxious and nervous during lessons. This appears to help. I also started CoQ10. Almost certainly, Alex will be tested for HLA.

Do you think your neurological symptoms continue to get worse even on the diet? For the moment, I think Alex has stabilised, but it's early days for us (4 months).

[jerseyangel]

Hi Claire--I agree with your observation about Doctors. I also very much agree with the thought that the neuro. problems tend to get overlooked. Personally, most of my gastro. symptoms are controlled by the gluten-free diet. There are the occasional accidents, and the other intolerences to deal with, but the neuropathy, fuzzy thinking, facial numbness, anxiety and the feeling of burning from within are all still a problem. I hope, at this point, that they will at least not get any worse. Anyway, I'm sorry that the testing you went through didn't turn anything up.

[Claire]

Hi Claire

Don't know what to say... Is that the HLA test/s that you are thinking of next? At least you are dealing with people who know something about gluten (around here they look at me like I am totally nuts).

I would also be interested to know whether anyone anywhere has actually been recommended gluten-free diet for ataxia on the basis of any tests? Or is it done on the basis of scientific research? Even our pediatrician, despite reading Dr H and L Cordain's papers, still calls the improvement on gluten-free diet "anecdotic evidence". Having said that, at least he supports it.

We are still waiting for appt with Dr H. In the meantime I started sublingual vit B complex on Alex, because school said that he gets quite anxious and nervous during lessons. This appears to help. I also started CoQ10. Almost certainly, Alex will be tested for HLA.

Do you think your neurological symptoms continue to get worse even on the diet? For the moment, I think Alex has stabilised, but it's early days for us (4 months).

I have to look in my file. I think I owe you a PM. You were going to Venice and I was thinking to wait until you returned - then forgot it of course.

I believe that "anecdotic evidence" is about it at this point though I do see hints in the literature that research is either contemplated or in progress - particularly for MS. I will keep looking for info on that. The neurologists I have spoken to - in primary hospital and research facilities here - have spoken of it being recommended as a result of what they have personally observed with neurological patients. As I said, my report from NIH had a gluten-free recommendation in three separate places in the report - in spite of them not knowing the nature of the neuro disorder.

Yes HLA will probably come next. Also colonoscopy and perhaps endoscopy. Though I do not have Celiac I am curious about the state of the small intestine - which is usually significantly damaged by the delayed food reaction syndrome that I have had for so long.

I do not think that the neuro symptoms are getting any worse - at least not noticeably so. This is true for gait and balance but the essential tremor of both hands is noticeably worse but only at times. CoQ10 has made a significant difference in my energy level - one that people around me have really noticed.

I have had a major flare up of food reaction symptoms since going totally gluten-free. That seems to happen to a lot of people. Very unpleasant and leaves me very uncertain what to eat. Almost everything that isn't meat, fish or chicken seems to cause problems. I wrote on one of the threads that I think the immune system, having no gluten or gluten-like cells to attack, goes after all the things it didn't have time for before! A jest, of course, but maybe some truth in it.

I am glad that Alex is stable at this time. What is the B complex dosage you are using for him?

Send me a PM and tell me about Venice. Claire

[Claire]

jerseyangel -

I didn't really want what they were looking for but I do want an answer. I have had years without answers and what once wasn't so complicated now has become a tangle of symptoms that may well not all belong to the same entity. One is lucky if the doctors can sort out two things let alone more than that.

I will be ordering up the tests the insurance will pay for. HLA will have to wait a bit. I need to recover from the holiday expenses.

You spoke of 'the burning inside'. Have you had that right along or did that come on after you went gluten-free?

I have what I call an internal tremor - especially strong in the legs. It is not a visible tremor. No one would know that I have it. It makes walking difficult. It is worse in the morning and lessens during the day. It is very hard to describe. It came on in the fall this year - after I had the NIH evaluation. I talked to a neurologist there about it in December. She thought maybe it was either an extension of the essential tremor that I have had or that it is OT (orthostatic tremor). I researched that and really doubt it. Symptoms are not a good match at all.

Thanks for your interest. Claire