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Opt For Genetic Test?


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#1 SeekingSarah

 
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Posted 26 May 2013 - 07:45 PM

My Celiac panel was neg, very high Total Serum Iga? High SED rate 65. PCP who has treated me for the past 9 years is back from maternity leave and is said Celiac wouldn't account for that high of SED rate, she ordered it retested (from FL, I am now in Ohio) waiting to see if it's still high. Saw local dermatologist about skin rash, she refused to do a biopsy said she has two other patients with DH and my rash is not presenting in those areas. YET, her visually made DX was Eczema??? The GI I saw here said he'd be willing to do an endo, but that was before my blood results came back neg so not sure his opinion now....wondering better option might be to have the genetic blood test run, then just go gluten-free and see if symptoms get better? I really want some REAL confirmation either way. 


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#2 ravenwoodglass

 
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Posted 27 May 2013 - 03:06 AM

While genetic testing is interesting it can not rule celiac in or out firmly so it is not diagnostic. There are people with the genes who don't have celiac and diagnosed celiacs who don't have one of the two most common celiac genes. I am an example of one of the latter. After you are done with all the testing you choose to have done then do the best (IMHO) test there is. Follow the diet strictly for a few months and see if your problems resolve. Sometimes a gluten challenge after being gluten free for a bit will bring on an obvious reaction that will help folks unable to get a doctor derived diagnosis confirmation that they are doing the right thing being gluten free if they have doubts.


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Courage does not always roar, sometimes courage is the quiet voice at the end of the day saying
"I will try again tommorrow" (Mary Anne Radmacher)


celiac 49 years - Misdiagnosed for 45
Blood tested and repeatedly negative
Diagnosed by Allergist with elimination diet and diagnosis confirmed by GI in 2002
Misdiagnoses for 15 years were IBS-D, ataxia, migraines, anxiety, depression, fibromyalgia, parathesias, arthritis, livedo reticularis, hairloss, premature menopause, osteoporosis, kidney damage, diverticulosis, prediabetes and ulcers, dermatitis herpeformis
All bold resoved or went into remission with proper diagnosis of Celiac November 2002
Some residual nerve damage remains as of 2006- this has continued to resolve after eliminating soy in 2007

Mother died of celiac related cancer at 56
Twin brother died as a result of autoimmune liver destruction at age 15

Children 2 with Ulcers, GERD, Depression, , 1 with DH, 1 with severe growth stunting (male adult 5 feet)both finally diagnosed Celiac through blood testing and 1 with endo 6 months after Mom


Positive to Soy and Casien also Aug 2007

Gluten Sensitivity Gene Test Aug 2007
HLA-DQB1 Molecular analysis, Allele 1 0303

HLA-DQB1 Molecular analysis, Allele 2 0303

Serologic equivalent: HLA-DQ 3,3 (Subtype 9,9)

#3 1desperateladysaved

 
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Posted 27 May 2013 - 10:15 AM

About a year ago I opted for genetic testing.  I had cut out gluten a couple of months before on my own.  I didn't feel I could ever eat gluten again, no matter what the cost.  I took a swab of the inside of my cheeks and mailed it to a lab.  My results came back totally positive.

 

I took this to my MD hoping she would discredit the test somehow.  She viewed the test results, my body (that looked 5 months pregnant), and she listened about the changes since going gluten free.  She advised me that I had Celiac Disease and I should never eat gluten again.  This diagnosis was also confirmed by my chiropractor( trained in nutrition), an osteopathic/functional medicine doctor, and a Functional Medicine Nurse practitioner.. I talked with another Functional Medicine doctor who also upheld the test.   I kept trying to get someone to discredit my tests. 

 

I had nutrient level tests which showed that my body was having absorption issues.  I also had a long track record of borderline iron levels and blood in urine.  My nurse told me this is a sign of protein malnutrition.  My vitamin B12 level was low.    I think this shows that my small intestine is  damaged.  The good news is that it is reversible and my plan to cope is to be gluten free and take supplements to help nourish as needed.

 

From the forum I understand that you can have a negative test, but still have celiac.  I understand that you may be able to have the gene, but not be manifesting it.  Yet, if one can't submit to eating gluten for testing, there is a chance you can still get your diagnosis.

 

I am hoping you will get a definitive diagnosis.

 

Diana


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#4 SeekingSarah

 
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Posted 27 May 2013 - 11:13 AM

Oh geez I think I could easily find someone to discredit a test...that is IF they'd even give me a test! Especially now that the initial blood panel was neg, the derm was like "why biopsy if the blood test was negative?"....isn't a skin biopsy needed for dx of OTHER skin issues too? But after her show of ignorance I now longer trusted she'd even do the DH biopsy correctly. I am just sooo tired of no one wanting to do actual tests, they look at me, push on my belly and hand me medication for IBS. They blame my previous gastric bypass for the low Vit D, low B-12, borderline anemia and GI issues. Despite the fact I was anemic BEFORE I ever had gastric bypass. I'm just getting inpatient and tired of wasting time and money going to new doctors. I will see the PCP in FL when I visit in June but she can't do an ENDO...just frustrating.


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#5 SeekingSarah

 
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Posted 27 May 2013 - 11:28 AM

What is the name of the cheek swab genetic test?


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#6 SeekingSarah

 
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Posted 27 May 2013 - 08:17 PM

Just got my retested SED rate via the patient portal...it's now 86. Something's not right....awaiting to see what PCP will recommend tested this week. The local doctor who ran the original SED rate that was 65 has NEVER said a thing about it....grrrr hate some doctors.


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#7 frieze

 
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Posted 28 May 2013 - 04:48 AM

Oh geez I think I could easily find someone to discredit a test...that is IF they'd even give me a test! Especially now that the initial blood panel was neg, the derm was like "why biopsy if the blood test was negative?"....isn't a skin biopsy needed for dx of OTHER skin issues too? But after her show of ignorance I now longer trusted she'd even do the DH biopsy correctly. I am just sooo tired of no one wanting to do actual tests, they look at me, push on my belly and hand me medication for IBS. They blame my previous gastric bypass for the low Vit D, low B-12, borderline anemia and GI issues. Despite the fact I was anemic BEFORE I ever had gastric bypass. I'm just getting inpatient and tired of wasting time and money going to new doctors. I will see the PCP in FL when I visit in June but she can't do an ENDO...just frustrating.

Low B12 can indeed come from gastric surgery.....


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#8 SeekingSarah

 
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Posted 28 May 2013 - 06:29 PM

Low B12 can indeed come from gastric surgery.....

Yes, I know that...as I stated the IBS, Low Vit D, Low B-12 and the anemia can come be after effects of gastric bypass but they are all also related to Celiac or Gluten, intolerance as is the skin rash, acid reflux, missed periods, night sweats, weight gain...etc.etc.etc.etc.etc. Thus the reason I'd like some real answers instead of just blaming the surgery...before I had surgery everything was just blamed on being obese. 


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#9 SeekingSarah

 
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Posted 11 June 2013 - 07:08 AM

When I first read about Celiac I told my mom I wondered if my nephew's mild behavior issues growing up were due to it?

 

Well just spent weekend with him, he is 18, noticed right off he has a sore spot on his LIP exact spot where I get one. He also has rash on his chin like I get. Then during lunch he was not eating and told my Mom that food makes him sick to his stomach!!!!!!!! He even asked her about the place on his lip, if she thought it was an infection (she's a nurse) because he said he's "popped" it...like he would a pimple...3 times and it's still not gone away.

 

I'm definitely going to push to get the genetic text now! My mom thought he needs some OTC meds...or to see a doctor, I know the docs around here would just give him some prescriptions and send him on his way. 


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#10 Cara in Boston

 
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Posted 11 June 2013 - 10:41 AM

My son's only symptom was a drastic behavior change - he went from "average" 5 year old boy to absolutely horrible - tantrums over everything, sobbing for hours, just generally difficult to be around.  We were at our wits end.  He had a positive blood test (some but not all) and a NEGATIVE genetic test.  This just added to the confusion.  The GI doctor said "no way" it was celiac because no GI symptoms and no genes.  We took him to the celiac center at Children's Hospital (by this time I too had tested positive, so it was just too much of a coincidence to ignore) and he was found to have extensive damage due to celiac when they did a biopsy on him.

 

According to his Celiac doctor, "behavior problems" is the most frequently seen symptom in young children with celiac.

 

So, in this case, the genetic test was not helpful at all, it just added to the confusion and made our journey to figure out the problem even longer.

 

Cara


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#11 SeekingSarah

 
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Posted 11 June 2013 - 12:29 PM

Well I'm hoping if I can get some sort of DX for myself...it will encourage my sister and my mom to steer him in the right direction for his issue. I have little say, but for a kid who rarely would ask for something for him to bring up these things to my mom show they must be bothering him. 


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#12 Celiac Mindwarp

 
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Posted 12 June 2013 - 02:31 AM

I did blood tests, endoscopy, genetic tests and all came back negative.

 

I reacted very badly to a gluten challenge, lasted 3 weeks and took months to recover. I went gluten-free anyway, and had an unbelievable improvement. I have an official NCGI diagnosis based on history and response to gluten. My diagnisis and encouragemnt to stay gluten-free comes from how much better I feel. 6 months ago I couldn' really consider working, now I am looking to retrain full time.

 

In terms of family, my Mum was really sceptical, but seeing my improvements, got tested (negative) and is now going to try a gluten-free diet. I AM the evidence for my family :)

 

Good luck, make sure that SED rate gets followed up in case there is something else going on.


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- Symptoms from 2001, maybe before. Across 20+ years, these have included, vomiting, D, migraines, headaches, recurrent miscarriage, inflammation problems (failure to heal from injuries) brain fog, anxiety and more!
- Elimination diet using Atkins, 2003 – excluded wheat, caffeine, quorn. 2005, excluded sesame, alcohol
- Started diagnosis route April 2012, blood tests, endoscopy – said negative, gluten challenge, clearly something very wrong, had to stop after 3 weeks.
- Gluten Free, August 2012, Corn Free, September 2012. Removed most processed gluten free foods.
- Genetic testing, December 2012 – negative – Diagnosis – Non Celiac Gluten Intolerance (NCGI)
- Elimination diet, January 2013 – all of the above plus dairy, legumes, all grains, sugar, additives, white potatoes, soy. Reintroducing sloooowly now. Health improving.
It's not that I'm so smart, it's just that I stay with problems longer. ~Albert Einstein Posted Image

#13 turningleaf

 
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Posted 12 June 2013 - 12:23 PM

While genetic testing is interesting it can not rule celiac in or out firmly so it is not diagnostic. There are people with the genes who don't have celiac and diagnosed celiacs who don't have one of the two most common celiac genes. I am an example of one of the latter. After you are done with all the testing you choose to have done then do the best (IMHO) test there is. Follow the diet strictly for a few months and see if your problems resolve. Sometimes a gluten challenge after being gluten free for a bit will bring on an obvious reaction that will help folks unable to get a doctor derived diagnosis confirmation that they are doing the right thing being gluten free if they have doubts.

I'm new to this and trying to figure it all out....I didn't think you could have Celiac if you don't have at least 1 of the 2 genes.   Where can I find more information on this?  Thanks!  I am definitely gluten intollerant by test and gluten-free diet, but I'm waiting for the genetic test to confirm.  The TTG test appeared negative.  The Gliadin test shows 1 point shy of Celiac.  Doctor told me to go completely gluten-free immediately.  He said I can very easily become positive for Celiac.  I was hoping that a genetic test would be definitive.


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#14 SeekingSarah

 
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Posted 12 June 2013 - 08:03 PM


 

Good luck, make sure that SED rate gets followed up in case there is something else going on.

 

I see my FL PCP in a couple weeks, she is more receptive to my concerns since she has treated me for 9 years, she is on top of the SED rate, after the 84 one in May I found out from another doc that I had a common bac infection occurring so that might explain it...but was it occurring in April with the 65 SED rate? Who knows, But PCP will recheck it for sure! 


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