No Known Relatives With Celiac Disease. Help!?

[greenbean]

My son is 14 months old and our pediatrician recently referred me to a pediatric gastroenterologist to test for celiac disease.

Since he was three days old we have struggled with terrible diaper rashes, CONSTANT diarreah, screaming (I do not believe that babies just have colic and scream for no reason!!!), and trying to get him to gain weight. I fed him every two hours for one whole year. All his problems got a lot better once I started an elimination diet (I was breastfeeding). I found if I didn't eat any dairy, whole wheat, chocolate, or caffeine that my baby was quite happy. He even started to gain weight and was almost up above the 10th percentile for weight and height.

THEN, I tried introducing solids at eight months and we were back to the diarreah problems and rashes. It wasn't as bad as before though, so I kept his solids to a minimum. When he turned one I weaned him and things went downhill fast. He lost 2 pounds, which doesn't seem like much, but when you only weigh 18 pounds to start with, it was a big deal to drop to 16 pounds.

I have the best pedi. in the whole word. She always personally returned my phone calls and told me to trust my motherly instinct that something is wrong and we haven't really figured out what it is yet. She tested his stool for the usual parasites, bacterias and viruses. All those things came back negative. He has been 100% dairy free and soy free since he was about 2 weeks old.

So...I called the gastroent. and I cannot get into see the her until January. Which from what my pedi. told me, I am not that concerned, because my son will only be 18 months old by then and the tests are not accurate before then anyway. We started the gluten free diet right away. It has only been 10 days and the diarreah stopped after about 48 hours. I have had a few set backs--like realizing his Rice Milk has gluten in it--but overall we are doing great.

Now to my question. I have no knowledge of anyone, anywhere, anytime having celiac disease in my family or my husband's family. Could it be possible that he could have it still with no family history of it whatsoever?? And another question. Will the gastroent. still be able to help me with a DX even though my son will have been gluten free for 3+months by the time we see him? I am absolutely NOT going to put him back on gluten just to be gratified with a positive test result, unless someone can give me a really good reason for it.

Thanks for anyone who takes the time to respond. I am going half crazy over this whole thing already!

[kbtoyssni]

Yes, it is very possible that he has it even without any family history. Many times family members will have it but not be diagnosed. Or they will carry the genes and never develop celiac.

The GI will not be able to diagnose via traditional tests (blood and scope) if he's not eating gluten. You have to be eating the equivalent of several slices of bread a day for 3-6 months to have hope of testing positive. But traditional tests aren't that accurate, especially in young children. He just isn't old enough to have enough damage to test positive (which is a good thing!)

As for needing a positive result - I don't see why you need it. A positive dietary response is a perfectly reasonable way to diagnose, and it sounds like you're going to keep him gluten-free no matter what the tests say. Some people need a doctor's diagnosis to stay on a strictly gluten-free diet. Some want it so it's easier to get a doctor's note for school-related things, but your pediatrician sounds like she'd be ok diagnosing. There's the other theory that you don't want a diagnosis on his medical records so he won't have problems with health insurance in the future. If you'd like to do some testing, enterolab is one way to do it. You send in his stool and they can diagnose gluten intolerance.

[jerseyangel]

My answer concerning diagnosis is the same as kbtoyssni. You could also have the gene test done to see if he has either or both of the Celiac genes.

So far, I'm the only one in my family that has Celiac. Only my mom and one sister have been tested, though. They were both negative, although my mom's doctor only did one test--not the complete panel, so who knows.

There are people on both sides of my family that I would suspect to have it (symptoms, other autoimmune diseases), but because no one else is interested in being tested, I remain the only "official" one.

[gfgypsyqueen]

You may want to go to the gastro to be sure there are no other medical issues for your child. But, if gluten-free, the tests will not work. Pursue the Entero Lab tests as another option. No dr note required.

My child was blood tested and biopsied at 2 yrs old. The results were "inconclusive" but she has the gene. She always has been dairy free, but now she is dairy free to the extreme level (no traces of dairy). Two months ago she went gluten-free because she still was not better. She showed immediate signs of improvement. The rash is gone and comes back with gluten or dairy. I still would have preferred an official diagnoisis because it is easier with some family and drs. I am still waiting to see if she has grown or gained weight.

PM if you want or need some of my toddlers favorites that are gluten-free/CF.

[Darn210]

Some docs will diagnose based on a positive dietary response (not many, but some). You may want to keep track of a few key dates for your appointment with the GI. Such as the date you started dairy free and gluten free. Summarize your history for the GI like you have done for us and add dates and weights. You may want a copy of your childs weight/height chart from the pediatrician to take with you. Plus, if you notice that your son is starting to put on a few pounds, you may want to take him into the Peds office for a couple of weight checks (so that it is officially charted) before your GI appt. Arm yourself with the information that you have (in an organized form) . . . which is what has worked and not worked for your child.

My daughter is the first in the family to be diagnosed. I suspect others but other than my son, husband and myself, I don't think I will be able to convince anyone to get tested.

[greenbean]

Arm yourself with the information that you have (in an organized form) . . . which is what has worked and not worked for your chilld.

Thanks to everyone for your responses!! I already had my sister make me an Excel program where I could track his diet and poopy diapers, vomitting etc. I didn't think about getting him weighed at the Dr. for documentation. Great idea. I was weighing him at home on our digital scale, but it's not super accurate.

I'm so glad I found you all =).

[Kayaking Mom]

Celiac is genetic, even though there are no other family members diagnosed at this time. I was the first in my family to be diagnosed 10 years ago. At that time it was considered "very rare" according to my doctor. Our daughter suffered for years with migraines, starting at age nine. There was never any mention from all the doctors she saw about testing for celiac, even though I was. I agree with the other posters that you are doing the right things for your son. If he is doing better, gaining weight, and less diarrhea, then stick with the diet. Any testing would not come up positive at this time as he has started the healing process. As you stated, it is not worth him getting sick again just to have a positive diagnosis. My daughter was ask to go back on gluten just to have a positive test done. She called so excited as she was in college and was gorging down on pizza, a bagel and having her first beer in 2 years. Guess what - 2 days later she called and said this is SOO not worth it and I am going back to gluten-free and forgetting the test! I wish you luck and hope that your son is doing much better.

[2kids4me]

Anytime you are dealing with an infant - you want to err on the side of caution. Document what yuo have discovered so far - what foods make him sick and how he improves when those foods are withdrawn.

There are a number of things that can cause diarrhea and lack of weight gain - other than celiac. It certainly sounds like a food related intolerance /allergy /celiac are all possibilities..... there are malabsorbtion syndromes or inborn errors of metabolism to consider. A ped GI should keep an open mind and at least rule some things out first.

I think you will have a good record of whats been happening and those GI docs do seem to like a 3 day diary. You keep track of everything -liquid or food that has been consumed over a 3 days period and note when the bowels are eliminated - character of stool / volume / presence of mucous/ If you go in with information like that - it will help.

sandy

Good luck and I hope they can give you some answers / help

[wowzer]

I went gluten free the beginning of the year even though I did have a negative blood test. I have a little sister that was diagnosed at a year old. There was an uncle in the family also diagnosed. I do believe that it is possible that both of my parents could have had it. My Dad was always in the bathroom immediately after dinner. I remember after a surgery to his wrist he had horrible blisters. Could have been DH brought on by iodine? Who knows. My Mother has had many DH like itcy outbreaks. I can't get her to believe me. My maternal grandfather was born in Sweden. I know that Scandinavians have a higher incedent of celiac. The more that I read about the more symptoms I find out that I've had over the years. I wish you luck with your baby. It does sound like this could be your answer. Keep us posted. Wendy