Unexplained weight loss in my 2 year old

[Joyle79]

My 2 yr 7 mth old daughter is baffling everyone involved. She was a very large baby and seemed to do well when I was breast feeding but when began with food her gain seemed to slow. Initially it was not a concern but it began to worsen. She is very tall (36 in) and continues to grow in height but she has not only  stopped gaining weight but has begun to lose as well (currently 23 lbs, 10 oz). The other interesting thing is that she is always hungry and eats on average 2500 cal./day. She often goes days without a bowel movement but when she does it is very loose and malodorous. About a year ago her MD did a battery of test. All was normal except the Celiac screen was positive. She refered us to a wonderful GI who did endoscopy to biopsy and test pancreatic enzymes. Biopsy was normal but her enzyme for digesting starches was very low ( TEst for CF was neg.). We started her and CReon and she gained 1.5 lbs in a month and her excessive eating slowed. Then over the past years her symptoms woudl return and we were constantly upping her dosage until about 2 months ago she had lost a couple of oz. and her GI stopped all medication to start from scratch. About 3 weeks ago she underwent endoscopy/colonoscopy. All came back normal even the enzymes. The only thing that raised any concern was that her large intestines had significant nodules but no inflammation and biopsy was normal. She has now lost 2 lbs in 1.5 months but her iron levels remain good at 13.3. Her GI has said that if all comes back normal we would assume food allergy and start eliminating things from her diet. This worries me a little because we have no cushion to play around with in her weight. Any ideas on what questions to ask the GI when we see him in 2 weeks or any ideas on what could be to blame for this weight loss. .

[Ecologic]

CRMS: http://www.cff.org/AboutCF/Testing/Genetics/CRMS/

My son has never had an endoscopy, all he had initially was the fecal elastase test - which in his case was abnormal, twice. The CF genetic test later on revealed one CF mutation that damages the pancreas.

How are your daughter's stools right now?

Did they check all her vitamin levels?

[Joyle79]

She does sleep at night usually 10-12 hours. She has always slept alot. Initially when she first started with all her issues she saw a cardiologist because she slept so much, has acrocyanosis (hands, feet lips turn blue) and was not gaining weight. She also at 2 weeks old had 6000 irregular heartbeats in a 24 hour period. It came on suddenly then 2 weeks later was gone. They never figured out why. I will try to subsitute soy milk and see how she does. Thank you for the suggestions.

[Joyle79]

Her sweat test and screen were both negative. I had never heard of CRMS and will ask the GI about it. She has never had a fecal enzyme test done they have done both of hers during endoscopy. The first test a year ago revealed that all enzymes were normal except for amylase which was 4. That is when we started Creon. He recently stopped it because she was requiring such a high dosage (3 at each meal and 2 at each snack) and had started losing weight again. The nurse called me earlier this week and said that her enzymes from the recent study came back normal and not to restart the Creon. But she has lost 2 lbs since we stopped it. We see him again in next week to discuss our options. Thank you so much for the suggestions. I may ask for a nutritionist referal to help us figure out if specific foods give her a problem.

[margypops]

Thank you for the list of foods she eats,and her routine, she sleeps a lot  during the day ,does she also sleep at nigh okay You could knock out the Pb sandwich in the morning and give her yoghort and cereal , maybe alternate the eggs ,I see nothing wrong with chicken nugetts many chidren love them..You could cut back on cows milk it does have a history of allergies  ..  

[Ecologic]

I re-read your post. It seems that your daughter is off the Creon now? I would put her back on it immediately! If it helped in the past, she very certainly needs it.

Also in my son's case, even with enzymes there are foods he cannot eat and will probably never be able to eat: fries, hamburger, anything fatty. No sauces as well. No fermented food. Very little processed food. Pureed peas seem to make things worse as well. If he eats something that his pancreas cannot handle, we know it immediately based on his next poop...

From your list I would remove the Mac/cheese and chicken nuggets...

Here is what he often eats: wheat bread, oatmeal, eggs, goat milk (he cannot drink cow milk),  almond milk, hard cheese, rice, pasta, lean chicken, apple sauce, steamed veggies. Not a whole lot of variety but we prefer to stick to safe food.

Juice is also very bad for constipation.

[Ecologic]

What was her sweat test results for CF? I would take a second look at CF again and REQUEST a genetic test. Sweat tests can not always trusted when negative.

My son (almost 2) has CRMS - Cystic Fibrosis related metabolic syndrome. It also started with awful smelling diarrhea, he had a negative sweat test and is pancreatic insufficient (last fecal elastase was 148). He takes ZenPep with all meals, his weight is currently OK. We are keeping a close eye on his growth - he too was a large breastfed baby, he is now about 50%/50%.

We did the complete genetic test (almost 2000 mutations), he has 1 CF mutation that explains his pancreas problems. He may also develop diabetes later in life. Based on the genetic test he does not have CF but is CRMS. We are going to monitor him carefully as he could still have an other mutation that has not yet been discovered or that was missed by the test - he tends to often be congested and has asthma as well.

Your daughter seems to have constipation, my son as well: he now drinks Benefiber all day (powder fruit package). Do you give her the Creon with meals and snacks? My son has 3 large meals and 1 snack, all with Zenpep.

The other disease that messes up the pancreas is Shwachman-Diamond syndrom, you may want to ask for a full CBC for your daughter  - unlikely though because SDS kids tend to be short, but better be safe and rule it out!

[Joyle79]

She typically will enter our room in the am with a jar of pb and bread so we make her a sandwich (whole wheat bread pb and homemade jam) then for breakfast usually eggs (3) toast and some kind of fruit. Throughout the am she will carry food at all times. Cereal is her favorite grazing food but she will do cheese,pepperoni, carrots, and yogurt depending on the day. For lunch usually another sandwich or chicken nuggets or Mac/cheese then a veggie or fruit. She naps for 2-3 hours then will have a snack, since it is hot we usually do smoothies (Greek yogurt, frozen fruit and milk). Then dinner usually a meat ( chicken beef or fish) a veggie and potatoes or sweet potatoes. She gets whole milk with breakfast and dinner then water the rest of the day. This of course varies depending on our day. She doesn't have a typical diarhea. She will go 4 or 5 days with no bowel movement then have a very loose stool. Her sugars are good. Thank you

[margypops]

Could you give me an idea of what she eats in 24 hours, what is her deit I am thinking an allergy to something but would like to get a feeling for what she eats , has she diarreha now at all did they say her sugar levels were normal ?