2 Year Old Son - All The Symptoms, No Diagnosis, What To Do Next?

[RobynJ]

Hello,

I am at a complete loss of what to do next. I have a two year old son. I put his history below. The biopsy came back negative but he has so many symptoms. The GI said we could do genetic testing, try him on the gluten-free diet, or just wait and hope it will be okay. Celiac explains all of the medical problems we have had with him. Does anyone have suggestions on what I should do next? How important is an actual diagnosis versus just seeing how it goes with a gluten-free diet? Would the entero lab tests be a good way to go? Maybe an NMD that has experience with Celiac?

I don't want to over react. I just want my son to feel better. I would be very grateful for any help or a point in the right direction.

Born 8lbs 3 oz full term at 4 months labeled failure to thrive (he fell below the growth curve)

After being put on solid food he began to have intermittent rashes (that look a lot like the DH pictures) about every 1-4 months. He still has these and just is getting over one now.

At about 14 months he was up to the 5th percentile.

16 months NMD suspected that cheese was causing chemical burn like rashes on his bottom. Cheese and yougurt eliminated from the diet

25 months begins throwing up for 2 months. Vomiting gets worse and worse until it is about 5 days out of the week with a watery diarrhea.

August- hospitalized for 3 days for gas, vomiting, diarrhea and refusal to eat. (liver enzymes were high)

August 21st Saw GI recommended an endoscopy and prescribed prevacid

Insurance debackle had us start over with new GI

GI seen last week. He suggested Celiac. Did endscopy- came back normal. On the blood work the Gilidan (sp?) showed positive but the other two tests where too low. (I can call and get numbers if that helps)

He has many of the signs of Celiac:

Failure to Thrive

Short Statue

lots of farting

large stools that float (we cloth diaper so we put his bm's in the toliet) very foul smelling

lots of diarrhea

Dh looking rash that stays about 7-10 days then starts to heal.

Distented stomach or bloating

Cheese allergy

Mood changes (but he is a baby-so this could just be his age)

He was exclusively breast fed until 4 months. Food was introduced. We just started to wean in August. He is now 2 years and 3+ months and weighs 24 lbs 0.1 oz. (5th %tile_

[ang1e0251]

It is very hard to dx a child that young through tests. They often test negative but it doesn't mean they don't have celiac disease or gluten intolerance.

Could you post the blood test results? That could be helpful.

Now you can do genetic testing. That can be one of the puzzle pieces to help you dx. You can also put him on a gluten-free diet today. It will not interfere with the genetic testing. Ask your dr if your child shows a positive dietary response to the diet and this is supported by the genetic test, will he dx him as having celiac disease?

When you put him on the diet, keep a food journal with everything he eats listed and his physical responses. Note his BM's and any other reaction. Your dr will respond well to a written record and it can be helpful to you also as his caregiver. Down the road he may have other caregivers like in a preschool and family baby sitters. Your food journal will be helpful to keep everyone in the loop.

Most of us also avoid all dairy in the beginning. If he reacts to cheese, there's a good chance he's casien allergic, the protein in milk. Make sure none of his meds or vitamins have dairy or lactose or whey protein in them.

That's the route I would take. Talk it over in your family and with your dr to decide what you think is best.

[GottaSki]

Was just about to respond....I second all that ang1e0251 posted.

I have a nearly two year old grandson that was the first to benefit from my celiac dx. He had already had bad reactions with other foods so they went gluten-free while I was being diagnosed. He improved very quickly -- good news is that young children usually improve quickly.

Good Luck to you!

[RobynJ]

I am still waiting to have the nurse call me back with his blood results. My mom also has a lot of symptoms and there is a family history of autoimmune on her side of the family, so I asked her to get tested. We started him on gluten-free on Monday. His stools have already gotten a lot better. Thanks for the journal idea. That should help down the road if we get new symptoms.

Do you think I need to do a Gluten-free Casein-free diet? Also, how important is an actual diagnosis? If diet is the only thing that changes- do we really need a dx? I don't know if that is a stupid question or not...

[ang1e0251]

Do you think I need to do a Gluten-free Casein-free diet? Also, how important is an actual diagnosis? If diet is the only thing that changes- do we really need a dx? I don't know if that is a stupid question or not...

Yes it sounds like you do need a Gluten-free Casein-free diet.

The dx, wow, that's a question with differents choices within it. For your child's health, no dx is necesary. You put him on the diet, if he improves, then there you. It's the same thing the dr would have you do even with a dx. But.........

When he goes to school, he may need a special plan to keep him healthy in the classroom. In the states, he may need a legal plan that schools put in place for kids that need specific care. For that you will need an official dx. If you put him on the diet with no dx, the only way to get one later may be to do a gluten challenge, not a fun thing to live through. Even in college, some kids are having to fight their way into appropriate housing and adjusted meal plans and a dx is necesary for that.

The flip side to that there have been a few instances of individuals being denied insurance coverage because they were dx'd with celiac disease.

It's a very confusing subject and one that you and your family will have to think about and decide what's best for you. Either way, you can count on our continued support. Keep asking questions!

[OptimisticMom42]

Our doctors were willing to DX on positive response to a gluten free diet (and negative response to screw ups )

My Dr. wrote the dx down on a prescription pad. I keep this in my purse and have pulled it out to show relatives and co-workers who joked about my illness being all in my head.

You may want something like this for in-laws, out-laws, ex's new girlfriend, teachers, doubting Thomas's.....

Also something to keep in mind. Homeschooling is legal in most states. Some people choose to keep their children home until they are old enough to understand and control their own diet. We used the Calvert system for awhile. It was very well put together and easy to use.

[RobynJ]

We did decide to put him on the Gluten-free Casein-free diet. I saw an NMD that is testing him (with the finger prick) for allergies. We are going to start there. Part of me hopes I am still wrong about all this- but he has had a dramatic change in stools in only four days gluten-free. I am waiting for the GI to call me back again and I will ask him if the symptoms improve and it comes to me needing a dx for schooling what our options are.

Thank you again for all your help.

[CDFAMILY]

Hi Robyn,

I was wondering if they checked your sons ferritin levels. My youngest did not have positive Celiac numbers but did have the DQ2 and low ferritin. She also had been almost gluten free. When we did a challange her whole iron panel fell dangerously low. She followed exactly what happened in this article that was posted in PubMed in 1982. She was diagnosed with Celiac and DH.

Also has your son been tested for Vitamin D3 deficiency, Malabsorption issues...has the rash been biopsied? I hope you get copies of all tests done on you and your children. There are many things doctors ignore thinking they are not important when in reality they are important. They also can misread a test too as they did in my case when a former doctor wrote and said I did not have Celiac. Lucky for me I went a month later and found my tests were incomplete and the Gliadin IGA was very positive. Good Luck

Open Original Shared Link

Am J Clin Pathol. 1982 Jan;77(1):82-6.

Related Articles, Links

Serum ferritin levels in celiac disease.

Souroujon M, Ashkenazi A, Lupo M, Levin S, Hegesh E.

Of the various common assayed parameters of iron metabolism, serum ferritin levels are the most discriminatory in distinguishing between non-treated celiac disease and other gastrointestinal disorders in the pediatric age group. Patients on normal diets usually have very low ferritin levels that increase at an average rate of 1 microgram/1/month when placed on a gluten-free diet. When the patient returns to a normal diet, however, ferritin levels decrease rapidly at an average rate of about 4 microgram/1/month. There is a relationship between abnormal intestinal changes and low ferritin levels in celiac disease with improvement in both when the patient is on a gluten-free diet. It is suggested that serial blood ferritin evaluations together with the leukocyte migration inhibition factor production assay should eliminate the need for invasive intestinal biopsies for the confirmation and possible follow-up to response to treatment.

PMID: 7055099 [PubMed - indexed for MEDLINE]

[CDFAMILY]

Also, remember that if they are doing a regular Allergy test, a wheat and milk test could be negative like they were for me andy my daughter. This is because Celiac Disease is an intollerance to wheat not an allergy. There are intollerance tests but most allergists refuse to do them. I tried going that route to see what other foods are a problem but our top allergist refused but said to come back with the results so he could help me understand them.

[RobynJ]

Okay, the GI called me back now that he had the enzyme results as well. He gave me information over the phone... but he was kind of dismissive. I think he thinks I am some crazy woman who wants my child to have a life long chronic disease.... (I just got off the phone with him- so I am still a little frustrated). He gave me some information- I am still not sure I understand everything.

So he said that all of the enzymes came back around 25 % which is close to normal. The only exception was the "milk" enzyme which was around 7%. Which I guess is about half of what it should be. So he said to take milk out of his diet. Which I already have done.

I asked him to read me the blood work from the panels and he said that (he seemed annoyed I asked him for this info):

Ant IGG- Positive

IGA- Negative

IGG-IGA-Negative

IGA was 11

He said he would be willing to do the genetic testing if that coupled with improvement on the gluten-free diet he would dx. (After he asked me if I was doing a partially gluten-free diet or a completely gluten-free diet... I had to list my sources before he would believe me) He also told me to have the liver levels checked. They were high last time.

I will be calling to order a copy of the results today. I really need to have my own chart for him. Getting this information about my own son shouldn't be this hard.

I am not really sure what to make of all this. I would love to just say that "he seems fine now" and go back to eating normally. But I also don't want my son to get sick again if I can help it or to have damage done to his intestines or put him at greater risk for other diseases. We are still waiting on the blood allergy test from the NMD.

What do I do from here? Should we do the genetic testing? Is it even worth it? It seems so many test can come out with a false negative.

[RobynJ]

Hi Robyn,

I was wondering if they checked your sons ferritin levels. My youngest did not have positive Celiac numbers but did have the DQ2 and low ferritin. She also had been almost gluten free. When we did a challange her whole iron panel fell dangerously low. She followed exactly what happened in this article that was posted in PubMed in 1982. She was diagnosed with Celiac and DH.

Also has your son been tested for Vitamin D3 deficiency, Malabsorption issues...has the rash been biopsied?

I have been trying to get the rash biopsied- but by the time I got the senior derm in the office the rash was already scabbing. They didn't want to do it because he is so young.

[Brooklyn528]

Hello, I'm a little new here but I would like to comment on the genetic testing. I just had both my 5 yo and my 17 month old tested for the celiac plus panel which does all the antibodies and the genes. Both of my children actually came back as having both HLA DQ2 and DQ8. They both also have Elevated IgG antibodies. I haven't spoken with the doctor yet, but I feel so much better just knowing that they have the genes because they are connected to so many other terrible childhood autoimmune disorders. From here, I will be finding out if my doctor will diagnose off of improvement on diet, genes, and elevated IgG. I hope this helps!

[ang1e0251]

What do I do from here? Should we do the genetic testing? Is it even worth it? It seems so many test can come out with a false negative.

Why not do the genetic test? If the dr will use it as a diagnostic tool, it can help for your overall picture of disease. Do get those test results. You can post them here and there are those that are good at reading them.