Jump to content

  • Welcome to Celiac.com!

    You have found your celiac tribe! Join us and ask questions in our forum, share your story, and connect with others.



  • Celiac.com Sponsor (A1):

    Celiac.com Sponsor (A1-M):

  • Get Celiac.com Updates:
    Support Our Content
    eNewsletter
    Donate

Opt For Genetic Test?

SeekingSarah

Recommended Posts

SeekingSarah Apprentice
SeekingSarah
Posted

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. 

Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):

Celiac.com Sponsor (A8-M):


ravenwoodglass Mentor
ravenwoodglass
Posted

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.

1desperateladysaved Proficient
1desperateladysaved
Posted

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

SeekingSarah Apprentice
SeekingSarah
Posted
  • Author

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.

SeekingSarah Apprentice
SeekingSarah
Posted
  • Author

What is the name of the cheek swab genetic test?

SeekingSarah Apprentice
SeekingSarah
Posted
  • Author

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.

frieze Community Regular
frieze
Posted

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.....

Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):

Celiac.com Sponsor (A8-M):


SeekingSarah Apprentice
SeekingSarah
Posted
  • Author

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. 

  • 2 weeks later...
SeekingSarah Apprentice
SeekingSarah
Posted
  • Author

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. 

Cara in Boston Enthusiast
Cara in Boston
Posted

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

SeekingSarah Apprentice
SeekingSarah
Posted
  • Author

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. 

Celiac Mindwarp Community Regular
Celiac Mindwarp
Posted

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.

turningleaf Newbie
turningleaf
Posted

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.

SeekingSarah Apprentice
SeekingSarah
Posted
  • Author

 

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! 

Archived

This topic is now archived and is closed to further replies.

Go to topic listing
  • Celiac.com Sponsor (A19):


  • Member Statistics

    • Total Members
      131,547
    • Most Online (within 30 mins)
      7,748
    gizmo1jazz2
    Newest Member
    gizmo1jazz2
    Joined
  • Celiac.com Sponsor (A20):

  • Forum Statistics

    • Total Topics
      121.4k
    • Total Posts
      1m
  • Celiac.com Sponsor (A22):



  • Celiac.com Sponsor (A21):


  • Upcoming Events

  • Posts

    • Scott Adams
      Taken Seriously

      By Scott Adams · Posted

      Your post demonstrates the profound frustration and isolation that so many in the Celiac community feel, and I want to thank you for channeling that experience into advocacy. The medical gaslighting you endured for decades is an unacceptable and, sadly, a common story, and the fact that you now have to "school" your own GI specialist speaks volumes about the critical lack of consistent and updated education. Your idea to make Celiac Disease a reportable condition to public health authorities is a compelling and strategic one. This single action would force the system to formally acknowledge the prevalence and seriousness of the disease, creating a concrete dataset that could drive better research funding, shape medical school curricula, and validate the patient experience in a way that individual stories alone often cannot. It is an uphill battle, but contacting representatives, as you have done with Adam Gray, is exactly how change begins. By framing it as a public health necessity—a matter of patient safety and protection from misdiagnosis and neglect—you are building a powerful case. Your voice and your perseverance, forged through thirty years of struggle, are exactly what this community needs to ensure that no one else has to fight so hard just to be believed and properly cared for.
    • Scott Adams
      Looking for a gluten-free roomie in Denver CO

      By Scott Adams · Posted

      I had no idea there is a "Louisville" in Colorado!😉 I thought it was a typo because I always think of the Kentucky city--but good luck!
    • Scott Adams
      Allergy medication: cetirizine by the HealthA2Z is it gluten free?

      By Scott Adams · Posted

      Navigating medication safety with Celiac disease can be incredibly stressful, especially when dealing with asthma and severe allergies on top of it. While I don't have personal experience with the HealthA2Z brand of cetirizine, your caution is absolutely warranted. The inactive ingredients in pills, known as excipients, are often where gluten can be hidden, and since the FDA does not require gluten-free labeling for prescription or over-the-counter drugs, the manufacturer's word is essential. The fact that you cannot get a clear answer from Allegiant Health is a significant red flag; a company that is confident its product is gluten-free will typically have a customer service protocol to answer that exact question. In situations like this, the safest course of action is to consider this product "guilty until proven innocent" and avoid it. A better alternative would be to ask your pharmacist or doctor to help you identify a major national brand of cetirizine (like Zyrtec) whose manufacturer has a verified, publicly stated gluten-free policy for that specific medication. It's not worth the risk to your health when reliable, verifiable options are almost certainly available to you. You can search this site for USA prescriptions medications, but will need to know the manufacturer/maker if there is more than one, especially if you use a generic version of the medication: To see the ingredients you will need to click on the correct version of the medication and maker in the results, then scroll down to "Ingredients and Appearance" and click it, and then look at "Inactive Ingredients," as any gluten ingredients would likely appear there, rather than in the Active Ingredients area. https://dailymed.nlm.nih.gov/dailymed/   
    • Scott Adams
      Protein or fat?

      By Scott Adams · Posted

      What you're describing is indeed familiar to many in the Celiac community, especially in the early stages of healing. When the intestinal villi are damaged from Celiac disease, they struggle to properly digest and absorb fats, a condition known as bile acid malabsorption. This can cause exactly the kind of cramping and spasms you're seeing, as undigested fats can irritate the sensitive gut lining. It is highly plausible that her reactions to dairy and eggs are linked to their higher fat content rather than the proteins, especially since she tolerates lean chicken breast. The great news is that for many, this does improve with time. As her gut continues to heal on a strict gluten-free diet, her ability to produce the necessary enzymes and bile to break down fats should gradually return, allowing her to slowly tolerate a wider variety of foods. It's a slow process of healing, but your careful approach of focusing on low-fat, nutrient-dense foods like seeds and avocado is providing her system the best possible environment to recover. Many people with celiac disease, especially those who are in the 0-2 year range of their recovery, have additional food intolerance issues which could be temporary. To figure this out you may need to keep a food diary and do an elimination diet over a few months. Some common food intolerance issues are dairy/casein, eggs, corn, oats, and soy. The good news is that after your gut heals (for most people who are 100% gluten-free this will take several months to two years) you may be able to slowly add some these items back into your diet after the damaged villi heal. This article may be helpful: Thank you for sharing your story—it's a valuable insight for other parents navigating similar challenges.
    • Beverage
      Diagnosed celiac for 1-2 months ago and everything makes me bloated.

      By Beverage · Posted

      I had a very rough month after diagnosis. No exaggeration, lost so much inflammatory weight, I looked like a bag of bones, underneath i had been literally starving to death. I did start feeling noticeably better after a month of very strict control of my kitchen and home. What are you eating for breakfast and lunch? I ignored my doc and ate oats, yes they were gluten free, but some brands are at the higher end of gluten free. Lots of celics can eat Bob's Red Mill gluten-free oats, but not me. I can now eat them, but they have to be grown and processed according to the "purity protocol" methods. I mail order them, Montana Gluten-Free brand. A food and symptoms and activities log can be helpful in tracking down issues. You might be totally aware, but I have to mention about the risk of airborne gluten. As the doc that diagnosed me warned . . Remember eyes, ears, nose, and mouth all lead to your stomach and intestines.  Are you getting any cross contamination? Airborne gluten? Any pets eating gluten (they eat it, lick themselves, you pet them...)? Any house remodeling? We live in an older home, always fixing something. I've gotten glutened from the dust from cutting into plaster walls, possibly also plywood (glues). The suggestions by many here on vitamin supplements also really helped me. I had some lingering allergies and asthma, which are now 99% gone. I was taking Albuterol inhaler every hour just to breathe, but thiamine in form of benfotiamine kicked that down to 1-2 times a day within a few days of starting it. Also, since cutting out inflammatory seed oils (canola, sunflower, grapeseed, etc) and cooking with real olive oil, avocado oil, ghee, and coconut oil, I have noticed even greater improvement overall and haven't used the inhaler in months! It takes time to weed out everything in your life that contains gluten, and it takes awhile to heal and rebuild your health. At first it's mentally exhausting, overwhelming, even obsessive, but it gets better and second nature.
×
×
  • Create New...

Important Information

NOTICE: This site places This site places cookies on your device (Cookie settings). on your device. Continued use is acceptance of our Terms of Use, and Privacy Policy.