Thursday, September 27, 2012

A Long Possible Diagnosis Story- Cora and FPIES

We've got a new diagnosis in our lives. Or, at least, a possible diagnosis.  We finally to visit the GI doctor last week to try and get another opinion on Cora's bouts of crazy vomiting.

Strangely, another mother mentioned this possibility to me over a year ago, when Cora had only had one episode and at the time I read about it and then promptly forgot about it.  After the peas episode we just stopped giving her peas.  And we avoided other legumes for awhile.  But gradually we started introducing other foods.  At about 11 months old she had another episode after pinto beans.  Then a couple months later, and every couple months or so until July when it happened 3 times in less than 4 weeks.

Her amazing pediatrician didn't think it was a recurring bug, since usually the next day she'd seem fine.  And it wasn't accompanied by loose stool.  So we ran a blood allergy panel and celiac panel, which came back negative across the board.  I've been told a number of times that allergy and intolerance testing for young children is notoriously unreliable, but we wanted to at least see if there was something obvious going on.  But nope.  Nothing.  Zip.

And it was tricky.  My gut told me that it was food related.  But sometimes I wouldn't know what food could have caused it.  It didn't seem to me that she had anything new.  In hindsight, though, I think that she probably had something "bad" mixed in with other things.

Advice from another mother of a child with Ds weighed in, urging us to get a full GI scope to rule out a possible duodenal web that may not have been detected in infancy.  But that seemed unlikely, since the symptoms have intermittent, she doesn't show evidence of reflux generally speaking, and she did have an upper GI and swallow study done at 2 months old.  Plus the idea of sedating her and doing something like that isn't my idea of the first thing to do. It just didn't feel like that was the answer.

After a discussion with the gastroenterologist, she listed FPIES, or Food Protein Intolerance Enterocolitis Syndrome as her most likely suspicion.  It is like a food allergy that causes an immune reaction in the gut, which is triggered by certain foods, which can vary from person to person.  It causes profuse vomiting and often diarrhea.  And it is not detectable by allergy tests or other objective testing.  Basically it's diagnosed on clinical observation.

After reading about it, I just had the feeling that this is what's been going on all this time.  I just felt it in my gut.  Acute episodes manifest with profuse vomiting 2-3 hours after exposure to the trigger food, and often accompany extreme lethargy, paleness, low blood pressure and extreme dehydration.  In fact, it can be very dangerous since sometimes dehydration is so rapid that it can cause shock and sepsis.  Often patients who wind up in the ER will show signs of inflammation and infection, so it can be tricky to discover.

Browsing online, it seems that many families get a diagnosis early on, after a baby reacts to formula or rice cereal.

But for us, with Cora being breastfed all this time, and me endeavoring to avoid foods that she seemed to be sensitive to, we were able to keep her from having super frequent reactions.  And the slow pace along with the hope that it wouldn't happen again kept us from aggressively exploring what was happening.

Then last week, a couple days after talking to the GI doc, I inadvertently gave her soy flour in the form of Veggie Booty.  After I had given her several, I re-read the ingredients and discovered my mistake.  I figured that we'd know in a couple of hours whether she actually had this type of reaction to soy.  Lo and behold, she started up again.

Bingo.  Pretty cut and dry to me.  The doctor wants us to gradually try reintroducing suspect foods.  But after the soy reaction, there is no way I will give her beans or peas.  I'm on the fence about eggs, since that one hasn't been clear, but she has eaten it on days she's had episodes.  And the moms I've talked to online recommended not introducing these foods at all right now.  So I will stick with that.  I do plan to reintroduce wheat shortly since I think it was causing a rash, but not an FPIES reaction.  We'll go back to the GI doc in November to share our findings and thoughts and maybe see about an official diagnosis.

And then last night, just in time to keep my head spinning and keep me from sleeping, I had the thought that maybe she was having reactions early on.  Before Cora had open heart surgery she had horrible, awful, ridiculous reflux.  Reflux that didn't seem like reflux.  It was severe, violent and almost constant vomiting, retching, choking, heaving and gasping.  It was pure torture to watch.  In fact, I took a video of it and deleted it since it was so awful (although I wish I hadn't deleted it now.)  I don't think the doctors really understood how bad it was.  They probably just thought I was an overly dramatic parent freaking out about spit up.  But really, it was bad.  And it stopped right after surgery.  Coincidentally it was then that we stopped putting formula into her expressed breastmilk bottles to increase the calories.  We thought that it was all caused by her significant heart failure.

But now I am thinking that it could have been a chronic FPIES reaction.  Reading the Earth's Best formula label, soy oil is one of the top ingredients in the dairy formula.  Aha!

This is a sneaky and fairly rare diagnosis. It's not more common in kids with Down syndrome than in the typical population.  Thank goodness for all the advocate parents out there who are current blogging and sharing information and following their instincts to get their children diagnosed so they can heal.  From what I hear, most kids outgrow it by 3 or 4.  So we'll hope for that.  And in the meantime we'll keep her on a pretty restricted diet.

But it feels good to finally know what's been happening.  Watching your baby violently and profusely vomit every few minutes for hours while the doctor's office help line just tells to you to be on the lookout for dehydration makes you feel helpless pretty fast.  Watching your kid be sick makes anyone feel helpless.  And in the scheme of Cora's life so far, it's not even the worst of what she's been through by far.  But it's nice to know what we can do to keep our sensitive girlie healthy and allow her little system to recover.


  1. I'm so glad you all figured this out. Lucas had this with oatmeal and we had to take him to the hospital twice for dehydration. I also have it as an adult to shellfish and have been hospitalized for it as well. So I sympathize with little Cora! Good news is Lucas has grown out of his and I bet Cora will too.

  2. Good on you for figuring it out - food intolerance stuff can be SO hard to understand! You are awesome and persistent. I hope little Cora outgrows it ASAP. <3

  3. Oh Leah! I am so happy that you have some answers. What are all the foods that Cora has to avoid? On a positive note, Ben likes all food so when he and Cora get married, he'll easily be able to adjust to her diet:)

    1. Right now she's avoiding peas, legumes other than lentils, egg, soy and wheat.

  4. Oh, wow. I'm so glad you're on the right track now! Hopefully you can get some final answers and move forward with new dietary restrictions. Samantha vomited until she was 2. I think it may have been reflux, but we were never diagnosed with it. We just kept her vertical and quiet for 20 min. after eating, and I could never baby-wear her because of the pressure it would put on her stomach. Once she stopped drinking formula, the vomiting miraculously stopped. I never thought it was related, though, because she's never had any reactions to anything else she's ever eaten, and because she was, by then, walking, and the vertical mobility I've heard helps a lot to stop this sort of thing as her digestive system matures.

  5. It must be such a relief finally figuring out what might be wrong. Hopefully it is something she can outgrow eventually.

  6. I have a now 13 year old son that was diagnosed with a similar issue at 9 months (Eosinophillic Gastrointestinal Disorder). He was on Neocate formula (amino acid based) until he was about 7. He did have a g-tube for a while, but he is on the Autism spectrum and had behavior issues with drinking the amount of formula needed. Since allergy tests were a no-go for information (and we tried, but back them a lot of doctros were still learning!), the only way we learned what "worked" was by introducing one food at a time (single ingredient, whole food) and waiting at least two weeks before trying another one. We started with low allergen foods and worked our way up. There were lots of ups & downs, and setbacks, but progress was made. By the time he was 7, he was able to tolerate milk, eggs & wheat. Soy protein remains the only food that triggers a regular reaction. Our son also no longer needs any meds to manage reflux or abdominal pain. He is scoped periodically to make sure there is no inflammation, but that is the extent of medical intervention needed at this tim.
    It is hard, but definitely possible to manage and there are tons more resources/support/accomodations. Good luck!


Thank you for sharing your thoughts with me!