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Anyone here with homozygeous GAD1 genes?

Gingergrrl

Senior Member
Messages
16,171
I'm being tested, after my presumed Type 2 diabetes diagnosis from last week was followed by protracted hyperglycemia, ketonuria, nasty headaches, and diarrhea. I should have the results in a few weeks.

@Valentijn I am also sorry to hear this and please keep us posted if it turns out that you are positive for GAD65 autoantibodies. My understanding (which could be completely off) is that the GAD65 Abs relate to the Type 1 autoimmune form of diabetes vs. Type 2.

My Endo has tested me for every test possible for diabetes (since I have the GAD65 Abs) and I am negative on all tests so we are assuming I have the GAD65 Abs b/c of having Hashimoto's Disease, severe dysautonomia, and/or general autoimmune chaos.

Do you (or did you) ever have an insane startle reflex or any symptoms that related, even on a minor scale, to SPS (Stiff Person Syndrome)?
 
Messages
15,786
@Valentijn I am also sorry to hear this and please keep us posted if it turns out that you are positive for GAD65 autoantibodies. My understanding (which could be completely off) is that the GAD65 Abs relate to the Type 1 autoimmune form of diabetes vs. Type 2.
Sort of. It's more that Type 1 has no insulin production. But that usually occurs due to detected auto-antibodies. I've been reading a lot about this the past few days, because my case seems to be very atypical, and my GP is completely clueless.

Basically you have 4 possibilities for diabetes mellitus, depending on whether there is insulin produced or not, and whether antibodies are present or not. If the diabetic doesn't produce insulin and has auto-antibodies, it's Type 1. If the diabetic does produce insulin and doesn't have auto-antibodies, it's Type 2. These account for approximately 10% and 90% of diabetics, respectively.

Another category is Latent Autoimmune Diabetes in Adults (LADA). They have autoantibodies, but still produce insulin. They typically have 6 months or more (after resolution of hyperglycemic onset) where they'll still produce enough insulin that they won't need to inject it. Instead of going from "normal" to "Type 1" like flicking a switch, they slowly become Type 1 as their insulin-producing cells are gradually destroyed. So they probably count as a standard Type 1, eventually, and the treatment ends up being the same.

Conversely, some diabetes patients do not produce sufficient insulin, but lack auto-antibodies. That would be "Idiopathic Diabetes", or "Type 1B". Accordingly, they do need insulin, but the disease might fluctuate due to unknown factors. So it's Type 1 with extra inconsistency to make life more interesting :p
 

voner

Senior Member
Messages
592
so, I just recieved results from Mayo that my serum tested positive for GAD65 antibodies ( 0.05 nmol/L. ......reference values are <(or equal to) 0.02nmol/L).

I have a exaggerated startle response, although less than @Gingergrrl.

I am starting to accumulate a few rather unusual positive labs... that don't quite point anywhere yet.
 

Gingergrrl

Senior Member
Messages
16,171
so, I just recieved results from Mayo that my serum tested positive for GAD65 antibodies ( 0.05 nmol/L. ......reference values are <(or equal to) 0.02nmol/L).

@voner My GAD65 antibodies from Mayo was 1.6 (so about 3x higher than yours) but so far they just appear to be related to me having Hashimoto's or dysautonomia (b/c I do not have diabetes or SPS).

I have a exaggerated startle response, although less than @Gingergrrl.

My exaggerated startle response has 100% disappeared with IVIG so I know it has reduced this antibody. We've had two more tests of our fire alarm system (with final test this week) and other than it being extremely annoying, it does not trigger the insane startle responses whereas prior to IVIG, just a knock at door or my dog barking could trigger it.

I am starting to accumulate a few rather unusual positive labs... that don't quite point anywhere yet.

Yes, me, too. I have all of these abnormal autoantibodies (with some very rare ones) but we don't know how they all fit together except that I have a problem w/the B-Cells cranking out all kinds of auto-Abs that it shouldn't be. We assume the initial viral issues all turned autoimmune. I wish I knew more!
 

Gingergrrl

Senior Member
Messages
16,171
I wonder if my doc would know what GAD antibodies are.......

I would think so b/c it's not a rare/obscure autoantibody like the tests I did from Cell Trend which are not recognized by US Neuros. GAD65 can be a marker for diabetes (which I don't have), for Stiff Person Syndrome (SPS) which I now know I don't have, or for dysautonomia & other autoimmune conditions like Hashimoto's (both of which I do have).

GAD65 obstructs the conversion of glutamate to GABA so for me it was triggering this insane startle reflex and symptoms that were like a minor version of SPS but since IVIG, that has completely disappeared after about 2 yrs of being tortured w/it.

So I think most docs would know of GAD65 (even if they only knew of the diabetes and SPS connection and nothing else).
 

Paralee

Senior Member
Messages
571
Location
USA
I would think so b/c it's not a rare/obscure autoantibody like the tests I did from Cell Trend which are not recognized by US Neuros. GAD65 can be a marker for diabetes (which I don't have), for Stiff Person Syndrome (SPS) which I now know I don't have, or for dysautonomia & other autoimmune conditions like Hashimoto's (both of which I do have).

GAD65 obstructs the conversion of glutamate to GABA so for me it was triggering this insane startle reflex and symptoms that were like a minor version of SPS but since IVIG, that has completely disappeared after about 2 yrs of being tortured w/it.

So I think most docs would know of GAD65 (even if they only knew of the diabetes and SPS connection and nothing else).

Thank you Gingergrrl. I have at least 4 homozygous on GAD1 that Livewello shows up, but I don't know if some get missed or not. No doctor has ever said anything about Glutamate, I didn't know what GAD1 did. I do have hashi's and no telling what other autoimmune stuff, our family loves them, but no diabetes.....yet. I think I'll bring this up with them. Blood tests tomorrow or next day, but really all they do are the same ones mostly over and over...sigh.
 

Gingergrrl

Senior Member
Messages
16,171
@Paralee, I think it's worth asking and I only mentioned diabetes b/c this is the first thing most doctors think of the with GAD65 autoantibody. My Endo has ran every diabetes test possible on me and I am negative on them all so we know I have the GAD65 Auto-Ab for another reason (at least so far).

Do you have an extremely exaggerated startle reflex? Mine reached the level that just our doorbell or an every day sound could startle me for hours. Our fire alarm went off and we think it triggered a "startle seizure" (but no definitive proof of this). Since high dose IVIG, the startle reflex disappeared. I was at a restaurant w/family back in Nov and someone dropped a tray which shattered on the ground and it didn't even phase me. My family was in awe b/c prior to IVIG, that would have triggered a reaction with tachycardia, full body shaking, teeth chattering, confusion, difficulty speaking, muscle cramping/shaking, etc. And now, nothing. So I know the IVIG is lowing this antibody. There is no other explanation.
 

Gingergrrl

Senior Member
Messages
16,171
As far as I recall, the GAD1 SNPs identified by programs like Livewello have no effect. Just having SNPs doesn't mean anything, it depends on which SNPs they are.

That is my understanding, too, although I don't know the science enough to say anything further!
 

Paralee

Senior Member
Messages
571
Location
USA
@Paralee, I think it's worth asking and I only mentioned diabetes b/c this is the first thing most doctors think of the with GAD65 autoantibody. My Endo has ran every diabetes test possible on me and I am negative on them all so we know I have the GAD65 Auto-Ab for another reason (at least so far).

Do you have an extremely exaggerated startle reflex? Mine reached the level that just our doorbell or an every day sound could startle me for hours. Our fire alarm went off and we think it triggered a "startle seizure" (but no definitive proof of this). Since high dose IVIG, the startle reflex disappeared. I was at a restaurant w/family back in Nov and someone dropped a tray which shattered on the ground and it didn't even phase me. My family was in awe b/c prior to IVIG, that would have triggered a reaction with tachycardia, full body shaking, teeth chattering, confusion, difficulty speaking, muscle cramping/shaking, etc. And now, nothing. So I know the IVIG is lowing this antibody. There is no other explanation.

@Gingergrr, I have had the startle reflex off and on, not so much the last few years, but if my head would open back up I might. This is interesting, I have always heard/read that the startle reflex was low adrenals.
 

Paralee

Senior Member
Messages
571
Location
USA
As far as I recall, the GAD1 SNPs identified by programs like Livewello have no effect.

Just having SNPs doesn't mean anything, it depends on which SNPs they are. You would need to check whetehr there is any research showing that your SNPs have an effect on the enzyme.

I'm really not surprised, @alicec . I've felt for a long time I've been just running around in circles trying to figure out those results. Makes me a little upset that they charge for .......... what?
 

Gingergrrl

Senior Member
Messages
16,171
@Gingergrr, I have had the startle reflex off and on, not so much the last few years, but if my head would open back up I might. This is interesting, I have always heard/read that the startle reflex was low adrenals.

I'm sure the startle reflex can be from other causes, too, and my experience may not apply to yours. I didn't start piecing things together in my own case until about one year ago and am still very much in the dark in many ways!
 

Gingergrrl

Senior Member
Messages
16,171
To followup on myself, I tested negative for GAD.

That is good news and at least now you know. We still think my GAD65 is connected to dysautonomia and Hashimoto's since I do not have diabetes and it is a confusing autoantibody to figure out!