Seronegative 5 year old?

[Karly]

Hi all! If any of you have advice or experience that could help with my son’s case, I would really appreciate it!  
 

He was a very colicky baby. I discovered a milk allergy at 6 months and going dairy free helped him a bit. Around 18 months he started really going down hill. He barely ate, had severe diarrhea, had bad abdominal distension, and vomited frequently. He eventually got so weak that he could no longer walk or even stand. He ended up in the hospital for three weeks. He tested negative for everything the doctors could think of, including celiac disease. Scopes showed some villous blunting but not celiac disease. He eventually got a PICC line for TPN (nutrition) and then we were able to leave the hospital with just a feeding tube. He spontaneously got better and it was left a mystery. 
 

The next few years he had some abdominal issues, but nothing major.  Then at 5 years old the same thing happened again. Still no answers. Still negative for celiac disease. This time he had complete villous atrophy. We went home with a PICC line for 6 weeks. Three months later he still had total villous atrophy. Our doctor decided we should try a gluten free diet to see if that helps and will repeat scopes in July. 
 

Is it possible to have celiac disease come and go? He recovered the first time and was fine for 3 years all while consuming gluten. 
 

He also has some undiagnosed immune disregulation - low IgM, low class switched B cells, and non-response to pneumococcal vaccine. 
 

Any advice or related experiences is much appreciated!

[cristiana]

Hello Karly

Welcome to the forum!

I am so sorry to hear about what your son has been going through.

The answer is whilst coeliac disease doesn't come and go, for some people its symptoms may.  Here in the UK our National Health Service website states as follows:

"Symptoms of coeliac disease can range from mild to severe, and often come and go. Mild cases may not cause any noticeable symptoms, and the condition is often only detected during testing for another condition.  Treatment is recommended even when symptoms are mild or non-existent, because complications can still occur."

https://www.nhs.uk/conditions/coeliac-disease/symptoms/#:~:text=Symptoms of coeliac disease can,because complications can still occur.

And of course that treatment is a gluten free diet.

When I was first diagnosed I was sent some info by our UK Coeliac charity, Coeliac UK, and I recall reading about a professional guitarist who in the UK was suffering from tingling and numbness in her hands (one of the coeliac symptoms).  But when she lived in Spain for a while her symptoms reduced massively, because there she was consuming contained much less gluten.  It wasn't until she was diagnosed that she made this connection.  

I am sure there are other reasons for symptoms "coming and going".  Hopefully others will chime in.

Cristiana

 

 

Edited May 26, 2021 by cristiana

[trents]

Welcome to the forum Karly!

To be seronegative and still have villous atrophy is a thing! We have occasional reports of that in adults by forum participants. The gold standard of diagnosing celiac disease is not sero-antibody testing but biopsy of the small intestine lining. We also know that CMP (cow's milk protein) can cause villi damage in some individuals as as can certain medications and some other intestinal diseases. Celiac disease does not "come and go." But it is true that the remarkable healing powers of our childhood and youth can temporarily arrest the effects of some diseases such that they seem to come and go.

Two suggestions:

1. Have genetic testing done on your son to check for the celiac genes. But there is a caveat to this in that plenty of people have the gene potential to develop celiac disease but never develop active celiac disease. It takes both the genes and some kind of stress trigger, such as a viral illness. Realize also that if someone has active celiac disease there is a 44% chance that first degree relatives will also develop active celiac disease. So if it turns out that your son has active celiac disease it would be a good idea for the rest of the immediate family to bet tested.

2. Put your son on a gluten free diet and see if there is improvement. The proof is in the pudding. But realize there is a learning curve when it comes to truly eliminating gluten from the diet. Eating a lower gluten diet via eliminating major sources of gluten such as bread and pasta won't cut it. You must also learn how gluten is hidden in processed foods via terminology and cross contamination during growing, transport, storage and processing such that it won't show up in an ingredient label. Also, CC can happen via cooking, stirring and slicing in kitchens when gluten containing food is being prepared in the same environment. It can be very difficult to keep gluten out of the food for just one family member who has celiac disease when the rest of the family is still consuming gluten.

 

 

[Scott Adams]

Welcome to the forum!

Something you mentioned confuses me:

Quote

Still no answers. Still negative for celiac disease. This time he had complete villous atrophy. We went home with a PICC line for 6 weeks. Three months later he still had total villous atrophy. Our doctor decided we should try a gluten free diet to see if that helps and will repeat scopes in July.

So can I assume that they did a blood test and said he didn't have celiac disease? If so, can you get and share those blood test results with us?

Also, celiac disease can be diagnosed with blood tests, and/or via endoscopy--flattened villi. If he had "total villous atrophy" at any point, combined with his symptoms, he should have been diagnosed with celiac disease. How did they explain away this total villous atrophy to you? It is a common presentation of celiac disease...in fact, the gold standard of its diagnosis.

[Karly]

1 hour ago, Scott Adams said:

Welcome to the forum!

Something you mentioned confuses me:

So can I assume that they did a blood test and said he didn't have celiac disease? If so, can you get and share those blood test results with us?

Also, celiac disease can be diagnosed with blood tests, and/or via endoscopy--flattened villi. If he had "total villous atrophy" at any point, combined with his symptoms, he should have been diagnosed with celiac disease. How did they explain away this total villous atrophy to you? It is a common presentation of celiac disease...in fact, the gold standard of its diagnosis

Thanks for your responses everyone! He had a negative blood test in 2017 and 2020. I attached the most recent results. He’s had 4 endoscopies/colonoscopies (June and December 2017, November 2020, and February 2021). After each of the first three, the pathologist said it didn’t look like celiac disease. After this last one though, the pathologist said it did look like Celiac disease. He’s been on a strict gluten free diet since then. The first month of the diet he didn’t have any improvement at all. Then we took him off his medication (sulfasalazine) and within a week he seemed to be feeling a bit better. It’s hard to tell what is causing what. 
 

I don’t know all the reasons his first three scope biopsies didn’t seem like celiac disease, but the doctors have been thinking his problems could be caused by some unknown autoimmune process. Honestly, I hope he has celiac disease because then we know and we can keep him healthy through diligence in diet. I just worry it’s a red herring. It is nice to know that severity of symptoms can change. 
 

Thanks!

[Karly]

1 hour ago, trents said:

Welcome to the forum Karly!

To be seronegative and still have villous atrophy is a thing! We have occasional reports of that in adults by forum participants. The gold standard of diagnosing celiac disease is not sero-antibody testing but biopsy of the small intestine lining. We also know that CMP (cow's milk protein) can cause villi damage in some individuals as as can certain medications and some other intestinal diseases. Celiac disease does not "come and go." But it is true that the remarkable healing powers of our childhood and youth can temporarily arrest the effects of some diseases such that they seem to come and go.

Two suggestions:

1. Have genetic testing done on your son to check for the celiac genes. But there is a caveat to this in that plenty of people have the gene potential to develop celiac disease but never develop active celiac disease. It takes both the genes and some kind of stress trigger, such as a viral illness. Realize also that if someone has active celiac disease there is a 44% chance that first degree relatives will also develop active celiac disease. So if it turns out that your son has active celiac disease it would be a good idea for the rest of the immediate family to bet tested.

2. Put your son on a gluten free diet and see if there is improvement. The proof is in the pudding. But realize there is a learning curve when it comes to truly eliminating gluten from the diet. Eating a lower gluten diet via eliminating major sources of gluten such as bread and pasta won't cut it. You must also learn how gluten is hidden in processed foods via terminology and cross contamination during growing, transport, storage and processing such that it won't show up in an ingredient label. Also, CC can happen via cooking, stirring and slicing in kitchens when gluten containing food is being prepared in the same environment. It can be very difficult to keep gluten out of the food for just one family member who has celiac disease when the rest of the family is still consuming gluten.

 

 

Thanks for the reply! 
he did have a primary immune deficiency genetic panel done and found no variants that are known to cause disease. I am assuming the genes for celiac disease were in that panel, but I’ll have to double check. 
he has been on a gluten free diet since February. The first month he didn’t have any improvement, but then he got noticeably better after removing his medication (sulfasalazine) that he’s been on since November. He still is having diarrhea and stomach aches but doesn’t seem to be as irritable and uncomfortable. 
I think I’m doing a good job of feeding him strictly gluten free foods. I do have an 18 month old though that surely gets crumbs all over the place and he is not gluten free. So there is a potential of cross contamination there. 

[cristiana]

Hi again

Is your son dairy-free at the moment?

C.  

[Karly]

34 minutes ago, cristiana said:

Hi again

Is your son dairy-free at the moment?

C.  

Yes, he doesn’t eat dairy, eggs (possible allergy), gluten, or corn syrup, and we limit all sugar because he is currently deficient in all the disaccharideases. 

[Scott Adams]

I agree with @trents and would keep him on a gluten-free diet, and after a year on the diet get another endoscopy done to see if his villi recovered. He should also be checked for vitamin/mineral deficiencies, as they go hand in hand with damaged villi, and he likely needs supplements. I would also get the genetic test for celiac disease markers if possible, as this would show you his risk of getting it, and can be done while he's gluten-free.

[Karly]

16 minutes ago, Scott Adams said:

I agree with @trents and would keep him on a gluten-free diet, and after a year on the diet get another endoscopy done to see if his villi recovered. He should also be checked for vitamin/mineral deficiencies, as they go hand in hand with damaged villi, and he likely needs supplements. I would also get the genetic test for celiac disease markers if possible, as this would show you his risk of getting it, and can be done while he's gluten-free.

Thanks for your input!

[GodsGal]

3 hours ago, Karly said:

Thanks for your input!

Hi Karly!

Have you checked things like toothpaste, soaps, lotions, pet food, etc for gluten? It's amazing where all gluten can be found. 

[Karly]

10 hours ago, GodsGal said:

Hi Karly!

Have you checked things like toothpaste, soaps, lotions, pet food, etc for gluten? It's amazing where all gluten can be found. 

I haven’t even thought about that stuff. Thanks, I’ll check them out!

[GodsGal]

20 minutes ago, Karly said:

I haven’t even thought about that stuff. Thanks, I’ll check them out!

Keep us posted!

[frieze]

4 hours ago, Karly said:

I haven’t even thought about that stuff. Thanks, I’ll check them out!

Anything that ends up in his gut...

[trents]

31 minutes ago, frieze said:

Anything that ends up in his gut...

There is also the possibility of transdermal glutening from lotions and cosmetics. I'm not sure if this has been scientifically studied but a number of forum participants have reported such expeiences.

[Beverage]

If you are going to try the gluten free diet, please consider this.  I had to make my kitchen 100% gluten free before I felt better. I got rid of all pots & pans with non-stick coating and cast iron skillets, also wooden spoons.  My boyfriend can have gluten beer in the house, but if he wants toast, he makes that in a little kitchenette in the garage.  If you are making anything with gluten flour, that gets into the air and isn't safe.  Also, is there any home remodeling going on?  Dust from cutting glued wood products like plywood or chipboard and some older wall boards / plaster may contain something. Is he exposed to glue in any form?  Envelopes?  Craft glue?