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IgA Deficiency Delayed Diagnosis: Celiac

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An IgA Deficiency Delayed A Correct Diagnosis: Celiac

I originally shared Anthony’s story in a 2013 post for Celiac Awareness Month. This sweet child spent his first 3 1/2 years SICK!  Initial tests for celiac were negative. But, as they eventually discovered, his tests were skewed due to an IgA deficiency. 

This story continues to make me cry every time I read it. It still makes me angry that diagnosis had to take so long. And it is one of the forces that drives me to share these stories. 

(*I am not a medical professional of any sort. I’m simply someone who wants to increase awareness, testing, and proper answers.) 

Too many with celiac are STILL un- and mis-diagnosed. Far too many! 

What's Wrong With My Child?!

Mom Shared Their Story:

Anthony was a sickly child, visiting the pediatrician’s office over 34 times in his first year of life.  He broke his arm at 8 months. Two months earlier, he was hospitalized with pneumonia (and then again at age 3 1/2). At 6 months he weighed a whopping 21 pounds, but then his growth seemed to stop. He gained only three pounds in the next three years.

This is a time when children do a LOT of growing. Three pounds in three years is a huge red flag.

Every time Anthony got sick with an upper respiratory infection he would vomit about once a day.  He had the bloodwork for celiac done at age 2 1/2 and it came back negative. The doctor treated him for cyclic vomiting and GERD. He actually went a stretch of 60 days vomiting once a day.  He was life-flighted to Children’s Hospital in Pittsburgh at 2 1/2 for pneumonia and a plural effusion.

Sick, sick sick! This poor child was so very sick.

“Having Celiac myself, my mother’s instinct kicked in. Enough was enough.  At his pediatrician appointment I tore off his shirt and said, “I don’t care what your blood work says….Look at him! Look at my child, he looks like a child with Celiac disease!”

(This is when they got their referral to a gastroenterologist.)

Absence of IgA Can Skew Tests

Mom shared, “Diagnosis still was not easy, even though these doctors knew exactly what they were dealing with. The reason his blood work came back negative was because he has an IgA absence, a complete absence of the component of his blood that could tell us if he had celiac and the reason he was always sick!”

Study : IgA deficiency and false negative tests.

The serological diagnosis of celiac disease (CD) often relies on the presence of anti-tissue transglutaminase (tTG) IgA autoantibodies. Patients suffering from selective IgA deficiency (IgAD) are often not aware of their IgA deficiency and are tested as CD negative, delaying considerably the diagnosis.

And,  from Beyond Celiac,”IGA Deficiency And Celiac Disease” :

 An estimated 2% of people with celiac disease also have selective immunoglobulin A (IgA) deficiency. If someone has IgA deficiency and celiac disease, the IgA deficiency can cause a false negative on a celiac disease antibody test. Therefore when it comes to testing for celiac disease when one is IgA deficient, the following information is important: (click on link above for full article)

Too Sick For A Biopsy

Mom continued: “He was scheduled for the biopsy three times. The first two times he was too sick to go under anesthesia, so the procedure was canceled. The second time we still drove the two hours, knowing he was still probably too sick. My husband and I lost it. My husband is a mild mannered person but he started screaming at the nurses and doctors, ‘My son is going to die and no one is doing anything about it!’ I was crying hysterically.

“The doctor sat us down and calmed us down and talked to us. He put him on some supplements and got us scheduled again pretty quickly. Before the procedure, the doctor talked to us, saying that ‘we won’t have any answers today’ because the biopsy had to go to a pathologist…yadda yadda yadda.

“When he came out from the procedure he said, ‘I am 100% sure your son has Celiac disease.’ He was the worst case he had ever seen!!! (and he’d seen thousands.)”

And Finally -- An Answer!

“Finally! We got the answers we so desperately needed. I saw the worry in his face. He got us some vitamins and supplements to get him feeling better and put some weight on my poor baby’s body! I didn’t sleep for 3 1/2 years! No lie. Every little cough, we were at his side because we knew vomiting was a split second after. It was horrible. I am making it my life’s mission to spread the word so that NO family has to go through what we went through.” 

Why Celiac Awareness? THIS IS WHY!!

It’s not about saying “*I* have celiac.”  It’s about reaching the MANY who still don’t know *THEY* have celiac.

It’s to reach the MANY who don’t know why their child is sick. And please know, sick does NOT have to get this extreme! Sick SHOULD NOT have to get to this extreme! #celiactestingnow!

Doesn’t everyone deserve an answer and a chance at health? (especially when a test and a diet change can be the answer.)

*Update 2019: Anthony is 11, 5’3″ and 125 pounds! 

Take that celiac! THIS makes me smile.

Check out mom’s Facebook page (Sealed With A Gluten Free Kiss) for updated photos. 

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Check out the Celiac Stories page for dozens of stories.
Be sure to request celiac tests before removing gluten from your diet.

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