Mothers Intuition

Have you ever had an instinct? An instinct that begins as a gnawing...Then grows into a raging burn; a burning instinct that something is wrong...

Your baby continues to get sick from the very foods he is supposed to thrive on. I did. I am a mom of a little boy just diagnosed with FPIES.

And that burning feeling now? Extinguished. My instincts? Stronger than ever. Guiding me, with my faith, as we navigate through the murky waters of our new world created by something called FPIES.

"Faith is not about everything turning out OK; Faith is about being OK no matter how things turn out."

Thursday, August 5, 2010

Disaccharidase Deficiency

‎"The intestinal biopsy from this patient had a generalized disaccharide deficiency" reads Little Man's lab results from the biopsy test. I had them mail me his latest labs (pre hospital and during hospital) as I keep a medical file on him at home and like to have copies of things like that. His levels are on the low end of abnormal....they are all about half of what they should be.

This is how his lab results read:

Lactase 12.2 with normal range being 24.5 +/- 8 and abnormal being anything below 15.0

Sucrase 12.2 with normal range being 54.4 +/-25.4 and abnormal being anything below 25

Maltase 50.8 with normal range being 160.8 +/-62.8 and abnormal being anything below 100.

Palatinase 2.0 with normal range being 11.1 +/- 6.5 and abnormal being anything below 5

Well, I'm sure they were waiting for his appt with the GI on the 23rd to discuss these results but here they were on the lab report...and I don't need a GI doctor to tell me what this means.

I KNEW there was an issue with sugars! I had to talk them into doing this test (the GI didn't have to much experience with doing it). It was sent to NY, so we didn't have the result right away.

I am not sure yet if this is something he will have life long, or if it is as I've learned about - a secondary deficiency because of the inflammation.

SO, this would be why he did so poorly on tapioca starch, and all fruits and everything with sugar basically....I have more research to do on it and I hope his GI will have more to add but it was a bitter sweet finding. I knew it.....but I was hoping I was wrong - you know?

Will the mom with more knowledge/awareness on FPIES and her son please stand? Oh, wait- please sit down....she's tired! It's been a long week (ok, it's been a long year). As we learn more about test results and process through more from the hospital stay....I am starting to feel the (long overdue really) impatience with the medical system here. I know his "team" cares very much -- maybe even too much. But, I just wish they could help more....maybe they just think I can handle it (because I am)? I need to find a way to get them on the same page- so this doesn't continue to be so exhausting and so I don't have to constantly think about how I am going to next update everyone...and get them to hear me so they can help me help my little man.

I struggle asking for help. Little Man's daddy and I are not accustomed to asking for help- we are used to doing it on our own. I am not sure if this is just how we were both raised, or because of him being in the military and not having family around, or pride or maybe just plain stupidity but we feel our children are OUR children- and therefore OUR responsibility. God is entrusting them to us. We "dealt" with Little man's "issues" (as we used to call them) for many months on our own- he was sensitive to foods in my breastmilk and this caused a lot of weird symptoms for him. He got more and more sensitive as we introduced formula's and foods and we tried to figure things out. I finally asked for help- not first from his pediatrician but from my colleagues- Dietitian's; shortly after I brought his pediatrician up to speed. I now regret not bringing her in the loop sooner but I was just trying to figure it out on my own (again, my kids = my responsibility) and at this time there was throwing up but nothing severe or violent. When I finally did bring it to the pediatrician, it didn't take many visits for her to realize that something was not right with Little Man. She was worried about eosinophilic esophagitis (which we have since learned the two can look a lot alike in the early months). She knew enough to know something wasn't right, but not enough to know what to do to help. But she continued to try. In and out of specialists we went, doctors in the hospital, an endoscopy with biopsy's, lab tests, and of course many sleepless nights- trapped in a glass box that was suffocating me. That feeling of hopelessness....when your baby is in pain and you just know something is so wrong and you keep reaching out for help, putting yourself out there- vulnerable...having people say you are just too anxious and that is why he is so sick or that you're not coping (how does one cope when you have a sick child and no one knows how to help and you keep getting shut doors?). My walls are still up...and Little man's daddy has a fortress built up....a man's responsibility is to protect.

We were building up a team of doctors that we can trust and rebuilding my ability to ask for help...until, this last hospital stay brought too much of that back and now I am feeling a distrust again. If I ask for more help with managing his care, will I be told I am not coping again? Isn't asking for help part of coping? Isn't building up support systems coping? Blogging is coping for me- it is therapeutic to journal our journey and "get it out", reading others blogs is also therapeutic. Finding "normal" in our lives again is coping. I always accept any suggestions for ways to help cope better. I know that is what is best for my boys. A happy (ie non-stressed) mommy = happy family.

Ok, this post went down a curvy path. But these continued lab results and findings only are bringing more and more of this to surface. I have been saying all of these things about Little Man for months...but I'm not being heard. Will they hear me now?


  1. Oh gosh, Joy. I can't imagine what you have gone through with him, knowing what we've gone through with Kara. When I take a look back at our story, it's a LOT for a little one but I feel like it's nothing compared to your little guy. I'm trying to stay somewhat level today for Kara's appointment. Last week for the allergist I was a nervous wreck all day and the appt wasn't til 4:00. I'm really hoping we find the answers we are looking for (as far as finding a good doctor goes) and I will have AWESOME news for you - maybe a trip "up" to the cities would be a good one to make! :)
    I'll update you as soon as I can. In the meantime, take care!

  2. Thanks for your thoughts Kendall. I know you've been through so much as well. We have always suspected something else is affecting our little guy- and I suspected a fructose intolerance, our dietitian suggested an sucrase-isomaltase deficiency, and our CHOP dietitian suggested a carbohydrate enzyme deficiency...she was right on...and the advantage of having medical help involved that recognizing what they are seeing when they see it. Someday the doctors here will too...because of Sam....maybe.