2 Yo Recently Diagnosed - Looking For Some Feedback

[semily]

My son is 27 months old and we recently determined he has celiac disease. I'm still wrapping my head around what this means and what we need to do. I apologize in advance for how long this is!

Background:

His growth has struggled since he started eating solids at 6 months old.

Birth- 25% for height and weight. (6 lbs 3 ozs, 18")

2, 4 & 6 months- 25% for height, 50% weight

9 months - dropped off chart, didn't grow since last visit

12, 15 & 18 months - 2-5% for height and weight

24 months - weight about 5%, height dropped way off chart. (22.8 lbs, 30.5")

After his 2-year checkup the pediatrician sent us to have a hand/wrist xray done to check his bone growth. He suspected he had constitutional growth delay, but the x-ray turned out to be a waste of time. The age of the various bones ranged from 9-24 months, which can be common for a 2-year-old, according to the pediatric endocrinologist who reviewed it. The endo recommended we just continue to track his growth, because he had a healthy BMI, hadn't had any nagging illnesses, had hit all other developmental milestones, and ate well. It took 2 weeks for these results to come back and we worried the whole time, and were unable to reach the doctor.

After that we switched him to the family doctor I had started seeing during my pregnancy with our younger son (9 months). We worried there was something else going on, and I wanted a doctor we could rely on and actually reach if things took a turn for the worse. Sure enough, the next month things became downright scary. At the beginning of September he started having giant, smelly, pale blowout BMs; his belly was HUGE, distended and hard like a rock; he was incredibly gassy; eyes sunken; skin dry; had no appetite; was lethargic; just not at all himself. He looked so frighteningly malnourished that we had to fight back tears when giving him a bath. The blowouts were getting worse each day and we had to bathe him after each one because the smell was so strong. His body just wasn't absorbing anything and his weight had dropped 2 pounds to 20 lbs 14 ozs.

During the second week of this the doctor ordered stool sample testing for parasites and bacteria and it all came back negative. Then one night during the third week I got him to eat a new cereal - wheat squares - and afterward his belly more swollen than ever. That's what led me to the lightbulb thought that this could be about wheat and possibly be celiac. We cut gluten from his diet the next day and the doctor ordered a blood draw. He was so dehydrated it took a few tries.

We were also also referred to a pediatric gastroenterologist. The first appointment available was FOUR months away. But after I briefly explained the situation the doctor on call said he needed to be seen immediately. We went the next day, but the appt was AWFUL. Despite it being a pediatrics specialty clinic at a university hospital, nobody did anything to make my son feel comfortable or not afraid. The doctor we saw was dismissive, almost accusatory, and didn't take a full history. After asking a few questions she tried to examine my son, but stopped in frustration when he cried. She left the room and 15 minutes later someone came in to explain how the surgery process would go next week... They had scheduled an endoscopy and she never came back to say what she thought it was, what the endoscopy would entail, etc. I knew about it from my own research, but was appalled at how it was being handled. The next day the nurse called to tell me he needed to start taking Vitamin K for clotting because he was so malnourished. Then she asked if I had questions, so I asked what the doctor thinks is wrong with him. She said the doctor believes he has celiac. I prodded more and asked why, and she said he is "classically presenting".

In the meantime his CMP came back and several things looked slightly off, including his TSH, alkaline phosphate and AST levels. Then the celiac panel came back from Mayo. His TTG IgA number was greater than 100 (normal level listed as 4) and TTG IgG was 19.3 (normal listed as 6). That was all the proof we needed - and there was no way were comfortable seeing that GI again. Our regular doctor recommended we keep him gluten free and referred us to a local nutritionist with a specialty in celiac.

Two weeks into the gluten-free diet his energy started to come back. Now we're 4.5 weeks in and he's gained two full pounds, his appetite is huge, and his energy is through the roof! I got some initial advice from the local nutritionist, but he scared me quite a bit with how extreme he was about cross contamination. (However, the more I read the more I realize he knows what he's talking about...) I feel like we still need more direction/structure though, so we have an appointment in a few weeks to see a pediatric gastro and nutritionist at Children's Hospital in Denver (a short flight away for us). Is that crazy?

Other than whether or not I'm crazy, I have a few other questions.

- While his BMs now have more color and are much less frequent, his tummy still gets very distended by the end of the day and he's extremely gassy. Is that normal this early in the healing process? I'm worry he's still getting some gluten somehow.

- Would you eliminate all dairy? We cut out milk and yogurt, but he's still getting butter on his gluten-free toast and is eating mozzarella on his gluten-free pizza. I tried one cup of Lactaid last week and the next morning he had a huge, pale, stinky BM, so I'm keeping him off milk. (he refused almond, rice and coconut milk alternatives) He loves yogurt though, and it's a great source of fat and calories, so I keep hesitating on whether that should be cut out.

- What supplements/vitamins would you recommend? Is L Glutamine safe and/or helpful? If so, how much per day? Right now he's taking a multi-vitamin (that I made sure was gluten-free), an Omega 3 supplement, and probiotics mixed in his water.

ETA one more:

- Is it okay to say he's been diagnosed even though we didn't do the biopsy?

[stanleymonkey]

there are other great ways to get fat, our daughter has an anaphylactic reaction to dairy, so we have had o be creative. if he wants chicken fry it with the skin on, add vegan margarine to everything, most vegan cheese and margarines are also gluten free, we use fleichmanns, and tuffuti brand, tahini is great source of fat, use it as a dip

[Roda]

My 6 year old son is essentially diagnosed without a scope/biopsy. He had a positive IgA tTG. His gluten challenge didn't go well and we called it quits after three days. There was no way we could continue for three months for a biopsy. Hope your little guy feels better soon!

[AzizaRivers]

I'd say you can call him diagnosed, based on what the doctors are doing and have told you. I would give them a call though, and just check to see that it's been put in his medical records. The reason for this is that when he starts school, it may be helpful to confirm that it's "official" if he needs any accommodations in the classroom or cafeteria--stuff like that.

You might need him to go 100% dairy-free for now. It's awesome that he's doing so well, but a month really isn't that long in terms of the healing of his gut damage. As you probably know, an endoscopy could tell you how well he's healing but sometimes that's not the route you want to take for various reasons. Since the enzymes that digest lactose are made in the villi and his probably are still at least blunted, and he's still having some little issues, I'd take away all the diary for now. I know it's tempting not to because he needs to gain the weight, but it could be doing more harm than good for right now. He'll probably be able to take it back (slowly) in a few more months.

Is your whole house gluten free? Plenty of celiacs can successfully remain healthy in a house with gluten, but not all of them can. You could have his blood tested again in a few months to see if his antibodies have gone down, and if they haven't then he's probably getting gluten somehow. In the meantime, do all you can to prevent CC. For example, when you butter his toast, did someone else use a gluten-bread-crumby knife to put butter on their toast before that? If that's a risk, he should have his own butter dish (and peanut butter jar, and jam jar...etc.) to prevent cross-contamination that way. You'll also want to keep his food away from old wooden spoons and seasoned pots and pans because they have residual gluten in them.

[semily]

stanleymonkey- Thanks for the ideas!

Roda- I can't imagine doing a full gluten trial either. He was so sick we weren't going to give him one more speck of gluten - it absolutely didn't feel right to keep him on it while we found a better doctor to do the biopsy. And as our primary doctor said, how sure did we need to be if we had a positive blood test and positive reponse to the diet?

AzizaRivers- That's a great point about his medical records for school, and thanks fior your input about dairy. I think we will cut it out entirely for now. As he's been feeling better he's been getting less picky about foods by the day so I already have some good pizza alternatives. What do you think about eggs? I've avoided those just because I have trouble digesting them.

Our whole house has gone gluten free, and I've replaced all damaged/worn cooking gear. We also have a 9-month-old son so if he was eating gluten it would likely be getting on the floor, their shared highchairs, etc., so it just seemed easier to go all the way. He does go to daycare, however, so that's our biggest cross contamination risk. So far they've been wonderful about helping us though, and he's not the first celiac child they've had. They even made gluten-free play dough last week. But no matter how careful they are we fully understand how hard it is to monitor the kids at snack/lunchtimes, so we're all working to education him and his classmates about why they can't share. It's been amazing how quickly they understand!

[Glutenfree4LJS]

I can certainly relate to how you are feeling. Our son was diagnosed at 30 mos. We went through the same "slow growth" problems not knowing why he was growing so slowly compared to other kids his age. He had the same huge belly that was hard as a rock. I took him to a few doctors they all told me he was fine. Till one day he started get to sick and all the doctors thought it was the flu. Then finally after losing so much weight our son was hospitalized for a week and in the end we had a biopsy that came back positive. It was a shock and extremely overwhelming considering I had never even heard of celiac disease before. Here are my thoughts to your questions:

The large belly- it took about 6-9 mos. for my sons belly to become completely flat. We noticed a big change right away but like you, I noticed at the end of the day it seemed larger. Keep in mind you are only a few weeks into gluten-free it takes the body a year or two to recover at this age so I would give it time.

Dairy- our son handled dairy really well so I never took him off of it. By the time he was diagnosed he would hardly eat anything but loved his milk since it didn't seem to make him sick I gave it to him for the fat and calories.

Supplements- I use a multivitamin powder called Rainbow Light. It can be mixed into things very easily and there is no struggle getting my son to take it. It contains iron. Keep an eye on the iron mg your son is taking in. Many gluten-free breads, cereal,etc. are not fortified with iron like the traditional gluten types are in turn many celiacs have issues with anemia.

And yes consider your son diagnosed even if it's without biopsy. Many times in this age group biopsies come back inconclusive or even negative. The golden rule for diagnosis is how the person reacts after going on a gluten-free diet. If it's better than you know he needs to refrain from a gluten diet.

Our son is 4 now and I will say it does get easier just stay positive for your little guy and you will find your way.

[mommida]

classic presentation + positive blood tests + positive response on the gluten free diet = at least probable Celiac diagnoses

since the gluten free diet has already been started, the only test that can be done is a genetic test (which is not failproof or IMO 98% accurate, some patients fall into the known 2% miss)

DO NOT do a gluten challenge at this point for a diagnoses, it can be dangerous. (my daughter had to be hospitalized for dehydration. she had a positive blood tests, positive gene test and responded to the gluten free diet = "probable Celiac" @ 17 months diagnoses. They would not do the endoscope in the hospital and i wouldn't let her ingest another bite of gluten)

She has since been diagnosed with Eosinophillic Esophagitus (when she was 6). I wonder if EE was there the whole time. So continue the diet and find a pediatric gastroenterologist who can give proper patient care. If there are any problems in the future you will need a specialist you can work with. You also need a good doc for yearly checks that know some of the other issues of Celaic. (i.e. symptoms of pica. It isn't just eating non food items. It can be chewing food, but spitting it out not swallowing. Really young Celiacs need extra precaution of a gluten free household. Pet food, lip gloss (your lip gloss and makeup), shampoo, skin lotion, all things in the house are an issue if pica rears up. (Some Celiacs here have mentioned children chewing up drywall in the house ~ heard that has gluten in it too.)

It does take some time for the healing to happen and some adjustment to carrying around a sack full of gluten free snacks. Now you will notice how much food is offered to children EVERYWHERE. So as much as you don't want to have candy and junk food in the stash, get the favorite gluten free candy and snacks so your little one learns "gluten free is always better."

[stanleymonkey]

ask your dietician about omega 3 vitamin d and calcium supplements, as our daughter can't have dairy she suggested those to make sure she isn't missing out on anything

as for the milk, if he won't drink the alternatives try soy yoghurt, or even a flavoured milk and over a few weeks mix it with unsweetened almond and I bet in 2 weeks time he'll be drinking almond milk,

there is a great website called go dairy free, they also suggest gluten free things we got some good recipes from there

[semily]

Update:

I took my son to Children's Hospital Colorado last Friday to see a pediatric gastroenterologist (an hour flight for us). It was truly an incredible experience and I was beyond impressed from start to finish. The facility is brand new and there was awesome stuff for him to play with everywhere. We checked in for our appointment and didn't have to wait at all. I think the doctor was in with us before it was even our appointment time. We had a wonderful, thorough, comprehensive appointment. My son loved "Dr. J" and spent the hour building forts with chairs and playing swordfights with those tongue stick things. He was even giggling during the physical exam part.

Dr. J does believe he has celiac disease, and that in September he was in, or bordering on, celiac crisis. We're doing all the right things so far. He did a blood draw to recheck his TTG levels, as well as his vitamins and minerals, and kidney, liver and thyroid function. His kidney function is back to normal, but he's anemic and his liver numbers are still elevated. Not enough to indicate hepatitis or something else bad, but they're 3x the normal level. He thinks this is probably due to the celiac, but wants to do an ultrasound to take a closer look. He also noticed during the physical exam that the liver was slightly enlarged. The TTG number is also still very high - 124.

The doctor said the elevated TTG indicates there is still damage to his small intestine, so the opportunity still exists to do the biopsy to get 100% confirmation of the diagnosis. This is new to us - previously we'd been told he would have to be put back on a gluten diet before doing a biopsy, which was a total nonstarter.

But he also said that the TTG number being so high (and at this age) tells us with ~98% certainty that he has celiac disease. But official diagnosis can only be given with positive results on the biopsy... He explained the procedure in detail, including the risk, a 1 in 3,000 chance the scope could create a bubble that would require emergency surgery to fix. He said it happens there about once a year.

I am 100% confident in this doctor and the facility, and it can be scheduled this week. Would you do it? Is it worth it to be 100% sure? We know he has it, so why should we put him through the endoscopy to get the extra 2% certainty? Will it matter for school, insurance, services, etc in the future?

[domesticactivist]

I think it's stupid they won't give him the diagnosis and it sounds like you really do have your answer. However, if you plan on sending him to school you absolutely should get the diagnosis. You will need it in order to be able to make sure the school accommodates your child. This issue extends all the way up to the college level, and when it comes time to register for military service it will be an issue as well. Even if the day care he's at now is accommodating, that is no guarantee down the line.

Our son does not have an official diagnosis, although the dr said 99% sure it's celiac. We are homeschoolers, so it hasn't been a big deal not to have it so far, but I know from others' experiences that we will have some hurdles down the line.

[M0Mto3]

We are currently without a diagnosis. I would do it if I were you. I just think in the end the official diagnosis would make things easier.

Also, I am glad to hear this update. I am still debating going to the Celiac Center at CHOP. Makes me think it is worth it. Thanks for the update.

[semily]

We decided not to do it.

We were very surprised when our phone rang at 9:20 pm on Tuesday- it was the doctor calling to see if we needed to talk, because he hadn't been able to talk to my husband personally yet. The three of us spent 40 minutes on the phone and it was extremely helpful.

The doctor said he has to recommend the biopsy because that's the standard of care, and every medical association and society won't recognize a positive blood test alone. Then he went on to say it is a completely reasonable decision to not have it. His following points were:

- TTG blood tests are typically 92-97% accurate when the reading is 20-100. Our son's case is different because his level is much greater than 100, which makes the accuracy of the test better than 98%. Which he said is pretty much as certain as any medical test gets. And while there aren

[M0Mto3]

Well, it sounds like you made the right decision. I can understand 100% not wanting to put him through anything else. After putting my daughter back on gluten for 2 months and ending up with negative bloodwork I was just ready for her to be healthy again. It is nice to at least know that these little ones are getting healthy and gaining weight. This is the most important thing regardless of how certain the dr's are of the diagnosis.