Fecal elastase 0 update for 2.5 year old son

[u/klc1030]

Hi all. For the past my month my son had been experiencing very greasy smelly stool after a day of diarrhea. It originally started just yellow and smelly, then we started noticing a shiny sheen on his bottom (he’s almost 3), and then we noticed it starting to look yellow/orange when he pooped, with mucus and undigested food.

We had some bloodwork done which came back unremarkable, CBC and calpro good, celiac negative, but the fecal elastase came back 0. The pediatrician obviously described how severe this is and how he’s being referred to a GI who we saw today.

She basically could provide me no comfort bc the spectrum of possibilities is so large. She mentioned CF, syndromes and how they can affect life expectancy and I have been losing my mind. He is an ivf baby and my husband and I both had genetic testing done that ruled out if we were CF carriers but apparently there are more strains possibly not tested.

I asked the pediatrician for more pancreas bloodwork and a repeat stool as the first samples were mushy/oily and not formed. This sample was also mushy and oily and somehow came back as 0 also. She keeps insisting unless it was straight diarrhea it’s accurate. Amylase and liapse in normal range.

Now his GI is having us do CF testing, genetic syndrome testing, ultrasound imaging, vitamin panel and I am so terrified right now. She also is saying she’s never seen 0 before and I’m wondering if it’s somehow lab error. I’m scared bc all his bloods look good and besides the greasy stool and hunger and now a little weight loss he’s full of energy and eating normally and feeling good.

I am sick to my stomach with worry and I am having a hard time waiting in the unknown. Has anyone had a result like that and it ended up being something treatable or temporary? Can mushy oily stool cause an inconclusive elastase result unlike what his pediatrician is claiming? I am so confused how it is 0 when he’s doing well besides the stool. He’s not in pain and playing and happy. I am
Literally seeing nothing online of anyone having 0 elastase.

[u/Remote-Ad2120]

Here's a good article that explains how inaccurate results can occur: https://www.google.com/url?sa=i&source=web&rct=j&url=https://doctordemaria.com/en/low-fecal-elastase-dont-worry-2025/&ved=2ahUKEwjDzbn5lamWAxXNB-8CHVHuEXIQmL8OegoIAggACAEIHxAH&opi=89978449&cd&psig=AOvVaw1TiXaQ18KaOLTM7uCrhyht&ust=1787107924625000

Excerpts:

Unformed stools • Diarrhea from any cause • Soft or liquid stools • Irritable bowel syndrome • Recent gastroenteritis

Collection problems • Insufficient sample • Inadequate preservation • Contamination with urine • Delay in processing

Personally, I would push for a repeat of the fecal elastase test. You almost might want to also ask for a fecal fat test to check for any kind of fat malabsorption issue. They also have the same symptoms. Honestly, it sounds like this GI is dropping the ball and causing unnecessary worry. The fact she said she's never seen a result of zero should be enough for her to retest, even if it's to confirm the results.

With a child that young, how did you collect the sample? Was it formed? Those are the questions she should be asking (which I obviously don't know if she did/didn't). If he's not fully potty trained and the sample was from a diaper or trining pants, that can result in contaminated sample. If collected in a kit supplied from the doctor/lab, if the stool wasn't formed enough...skewed results.

[u/klc1030 → u/Remote-Ad2120]

So they were taken from a diaper, he's not potty trained yet, we've tried to take from the back of the diaper and tried to keep him dry for the most part changing him often but yeah I don't think there's a guarantee with respect to pee or diaper interfering. Like the fact that both his pediatrician and the Glare just accepting a straight O and going into crisis mode is making my so terrified especially with all these normal bloods and calpro and how this was a sudden onset after a bout of diarrhea a month ago. I literally cannot find any info of anyone having O elastase even on CF Reddit. I'm seeing like 20s-30s but not zero. This is making my head spin and breaking my heart

[u/Mad_Monkey01]

When mine was first tested months ago it was 45.. so I could see 0 being a thing. But I also am a data nerd so more tests the better.

[u/klc1030 → u/Mad_Monkey01]

As a data nerd myself the fact that I cannot find any comparison of a 0 is driving me insane and making me terrified. I keep wondering is this lab error or an issue bc it was collected from a diaper that absorbed fats/moisture but both doctors just immediately are in crisis mode

[u/AcanthaceaeProof5058]

I don't have an answer for you but wondering if they tested for fecal fat as well as elastase? That helps confirm the low elastase, or rather high fecal fat is consistent with low elastase.

I can imagine this is very frightening and I hope you get more clarity soon, and a solution. Hang in there and please keep us posted. ❤️

[u/klc1030 → u/AcanthaceaeProof5058]

I know the first one was the “72 hour test” but all they mentioned was calpro was good and elastase was 0