Trying to get a diagnosis - help!

[T1Mom]

I'm new to this.  I have a daughter with Type 1 Diabetes, so Celiac Disease has been on our radar for 7 years with her.  It's our other two kids, though, who are showing signs of celiac including positive genetics.  My son's genes are:

DQA1: 1:03, 5:01 and DQB1: 2:01, 6:03

He was tested back in 2016 and the GI we saw encouraged us that it was probably nothing and just to keep an eye on things. He has had severe keratosis pilaris his whole life, major constipation issues, and also struggles with anxiety and depression.  He has been diagnosed with atopic allergies and has allergy-induced asthma.  He has also had intermittent low ferritin, which apparently is uncommon in males.

My other (non-Type 1) daughter just got her genes tested this week.  Her results are:

DQA1: 5:01, 5 and DQB1: 2:01, 2:01

Her symptoms have been pretty major including extreme fatigue, depression, weight gain, bloating, constipation, crazy skin flare ups including keratosis pilaris on her arms and legs and red flushes on her face, anxiety, emotional rollercoaster, chronic low ferritin levels (despite aggressive supplementation), and subclinical hyperthyroid numbers.  

The dr. wants our daughter to take a new prescription iron supplement and try a gluten free diet for 2 months.

I've tried to read on this site about interpreting the genes and got very confused.  I'm also reading that trying the diet might compromise our getting a positive diagnosis in the future as the tests might not register.

I need some help in interpreting these results in clear English and maybe a recommendation for what to push for with the dr.?  She's willing to write a referral to a gastroenterologist for me. Thanks in advance for any encouragement/help you might be able to give!

[trents]

Gene testing can only demonstrate the potential for Celiac Disease. A high proportion of the population have the genes that indicate potential for developing celiac disease (40% I think). Of those with the gene potential, only a small percentage actually develop celiac disease however. It takes both the genes and some kind of triggering stressful even (such as a viral infection) for the genes to be expressed in actual celiac disease. The other important factoid here is that celiac disease and a number of other autoimmune conditions (such as diabetes and rheumatoid diseases) share many of the same genes in the genome map.

To cut to the chase, your kids have a large number of classic celiac disease symptoms and they should get tested as soon as possible before beginning a gluten free diet. If you wait until after going gluten free before getting testing done they would need to start eating gluten again for 2-3 months. There are blood tests for antibodies that accompany celiac disease but the gold standard of diagnosis is endoscopy/biopsy of the small intestine lining. Push for at least the blood tests now. The antibody blood tests are not as reliable as the endoscopy/biosy but have gotten more specific for celiac disease over the years. It may be the place to start.

Edit: First degree relatives of someone with celiac disease have a much higher probability to also have celiac disease than the general population.

Edited September 23, 2020 by trents

[cyclinglady]

Get the GI consult.  In the meantime, ask your primary for a complete celiac disease antibodies panel which includes the TTG, DGP and EMA tests.  Do not have your kids go gluten free until after the GI consult.  try to find a celiac savvy GI.  Look for a local celiac disease research center in your area.  They can do referrals and you can see who is in your health plan.   The diet is hard to master.  Kids might not comply.  It is best in my opinion, to get a diagnosis.  
 

Because I have celiac disease and other autoimmune diseases and both sides of my daughter’s extended families have various autoimmune disease, our doctors have always been willing to test.  I found sketching out a family healthy history tree has been invaluable for my family.  When my niece was sick, I thought for sure she had celiac disease but it was firmly ruled out.  She had Crohn’s instead.  Her GI was so happy to see that silly family health history tree.  One page said so much.  Another tactic is documenting in writing.  For example. I would write an email to our doctor and request celiac disease testing for my daughter (should be done ever few years even if asymptomatic).  I would ask for the complete panel (because I test weird and I just want one blood draw).  In writing, it can be hard to deny a request.  If email is not available, there is nothing like a nice certified postal letter.  
 

Supplementing with iron is just a bandaid fix.  What is the root cause?  That should be the goal.  
 

I can not speak for the genetic testing.  i was diagnosed without ever having it.  It is used to rule out celiac disease and not diagnose it.  Because, like Trents said, a huge chunk of the population carries those genes.  And not all the genes have been identified.  Heck, who is doing tests like 23 and me?  Mostly People of European decent?   But your kids do have the genes.  Are they the perfect combination that will insure celiac disease?   You need to talk to a doctor who specializes in genes, but the answer is no one really knows.  
 

Go by symptoms and the fact your kids are ill.  Find a doctor who is willing to help.  While one kid might have T1D, the others could have celiac disease or thyroiditis which are commonly linked.  
 

Anemia was my main symptom.  Hemoglobin was so very low before  my diagnosis.  But all my adult life (since my blood has been drawn), I have been low on ferritin).  Wish my diagnosis was caught early.  I ended up with osteoporosis.  Too late for me to build bone, but your kids need to be building bone while they can.  Osteoporosis was a hidden symptom.  Not everything is a classic textbook case.  
 

Get your kids tested too for autoimmune thyroiditis.  My kid just tested positive on thyroid antibodies.   No need for thyroid hormone replacement yet (rest of thyroid panel is fine) but she has it.  She has some symptoms, but  her focus is a good diet and exercise.  Maybe she can stop Or slow down the autoimmune process.  Maybe.  

Edited September 23, 2020 by cyclinglady

[knitty kitty]

Here's a link to an explanation about Celiac Disease and genetics...

https://rarediseases.info.nih.gov/diseases/11998/celiac-disease/cases/43805#:~:text=Susceptibility to developing celiac disease,environmental factors to cause celiac disease.

Celiac Disease causes malabsorption which results in vitamin and mineral deficiencies.  Your children should be checked for deficiencies.

Vitamin A and Vitamin C deficiencies cause keratosis pilaris.  Magnesium deficiency can cause constipation.

Thiamine deficiency can cause allergy induced asthma....here's an article that covers this and more of your children's symptoms....

https://www.hormonesmatter.com/allergies-autonomic-response-thiamine/

Your daughter's symptoms....can be attributed to Thiamine, Niacin, B12 and other vitamin deficiencies.

"extreme fatigue (thiamine, B12), depression (B12, thiamine, niacin, Vitamin D), weight gain (thiamine, Vitamin D), bloating (thiamine, niacin), constipation(thiamine, magnesium), crazy skin flare ups(niacin, Vitamin A, riboflavin, omega 3s) including keratosis pilaris on her arms and legs and red flushes on her face, anxiety, emotional rollercoaster (thiamine, magnesium, B12, niacin), chronic low ferritin levels (thiamine, folate, B12, Vitamin C) (despite aggressive supplementation), and subclinical hyperthyroid numbers (thiamine, Vitamin D)."

Have your children checked for vitamin and mineral deficiencies.  

Discuss supplementation with a B Complex and other vitamins and minerals that may be low.  Blood tests don't accurately show a deficiency in the tissues where there is a deficiency.  Blood levels are kept constant to supply the brain while depleting the tissues.

Hope this helps!