By Rachel Rojas

My Emi was born on July 17th, 2013, with her intestines in her umbilical cord. We were told it was omphalocele. (An omphalocele is a birth defect in which an infant’s intestine or other abdominal organs are outside of the body because of a hole in the belly button (navel) area. The intestines are covered only by a thin layer of tissue and can be easily seen.)

I was a patient at a high risk clinic due to being diabetic. And she was never diagnosed with any problems before birth.
She had surgery the same day in Lubbock, TX. During surgery they found her intestines were not connected and her stomach was on the opposite side of her body. Emi had bowel reconstructive surgery at just seven weeks old. Due to a tear on her small intestine her intestines shut down.  She acts like a short gut baby, but is not. She has been tested for cystic fibrosis a total of five times now and the results still show that she does not have CF.

Emi is now three years old and we have had hospital stays for the first year and a half every month up to 3 weeks at a time. We were told she was not able to absorb her food and was unable to thrive. She had severe diarrhea at times that she would become acidic. At three months old she was only at her birth weight. Emi was then placed on TPN for eight months until she had an infection in her line that had gotten into her blood. I asked her GI if we could possibly try to feed her and see what milk supplement we could give her.

We went through nine different formulas. We have managed to get her to 25 lbs. Emi also has pancreatic deficiency, which requires her to take creon (a pancreatic enzyme) up to 6 capsules a day. Emi has always had slow weight gain but as long as she doesn’t lose weight, we are on track. Emi also has a B12 deficiency as well and takes injections once a month. Emi constantly suffers from chronic pain in her intestines. She constantly has spasms and we do not know why and have been told this is just her life and that she will hurt like this.

Her stomach gets distended for long periods of time and makes it hard for her to breathe at times. We have had days and nights of constant crying 2-4 times a week. Sometimes everyday….all day.This has been going on for three years.

Emi has been on on milk supplement Pediasure, Peptide, Boost, and as of five months ago has refused all milk and most food. 
We have never been given a diagnosis for her condition all we have been told is she is “rare.” We do not see a regression in weight and try to get her to eat whatever she is willing to eat.

In April of this year she had impaction of stool that almost ruptured her bowels and Emi needed to have more of her intestine taken out, she now has a colostomy bag. Her intestines continue to cramp and now use the colostomy as an outlet and at time her intestine hangs 3-7 inches out of her body until we drive 2 1/2 hrs. to Lubbock TX to have them placed back in. She was not on any pain medication, as her GI thought it would not help.

Her GI doctor has basically told us he just doesn’t know why she’s hurting. We just don’t know what else or where else to go with her. We are desperate for answers and helpless in finding care for our daughter. We have been to hospitals in Odessa, Midland, Lubbock, Dallas and now Fort Worth. We are still told Emi may be or have something that is not yet known. As of July of this year we have struggled with pain management finding medication that will help her with pain as well as two emergency surgeries. Making it seven surgeries since birth. She continues to struggle with pain everyday but fights to be a normal little girl.

Do you have suggestions on where to go next? Please leave feedback below.

7 thoughts on “A Mother’s Plea: Help Us Diagnose My Toddler’s Rare GI Symptoms”

  1. Donna Hoffman says:

    Have you called the National Institutes of Health? They have a rare and undiagnosed sectio. That may be able to help you

  2. Elizabeth Bromund says:

    I’m so sorry to hear your sweet daughter is suffering so! Has she had genetic testing? My daughter’s symptoms seemed random, then the hematologist suggested they may be related to a syndrome. He was correct.

  3. Dietitian says:

    So sorry you are going through this. Have you looked into food allergies/intolerances? Leaky gut can cause diarrhea, constipation, bloating etc. ask the GI doc if you could add a probiotic to her diet & test for food allergies. Dairy could be an issue.

  4. Joyce Gould says:

    Does anyone in the family have an acute porphyria? Not usually diagnosed in infants, but it still should be on the differential diagnosis list.

  5. Jadi says:

    Has she been tested for Shwachman Diamond Syndrome? It is the 2nd leading cause of pancreatic insufficiency. My son has a lot of gi problems as well and was tested for CF but was negative. Then he was diagnosed with Shwachman Diamond Syndrome. I hope that helps!

  6. Katie says:

    Fpies or eoe?

  7. RLLANDERS says:

    I’m so sorry for your baby. I don’t now anything about her specific problems. I was born at 2lbs 14 oz and was failure to thrive. I refused all milk. Was in the hospital l for the first two months. Luckily, I had a grandmother at home who gave me cod liver oil every day (liquid) which was probably a B12 supplement and fed me rice with a little fresh cream. With my grandies who were allergic to milk, I used almond. Now I use Organic Milk which they tolerate better than regular. One gets hives to fresh corn, making me wonder if GMO is an issue, so I buy non GMO when available. I am sensitive to pesticides, alcohol and antibiotics. One grandie is already allergic to three antibiotics when she was 3. I may be allergic to all but one. I have had esophageal and aortic spasms as long as I could remember. The only thing that keeps me from emergency with them is Lorazepam, one a night. It’s like a miracle for soothing smooth muscle. I have also had anaphylaxis immediately after antibiotic to things like msg, sulfite. It’s like they prime the body for oversensitivity, which wears off over time, to be repeated after the next antibiotic. One thing about stomach or abdomen, I was given CIPRO years ago for an infection I caught while in for a procedure. It made the abdomen and stomach very soft inside. It made me wonder if it would help a colic-y baby.
    Failure to thrives can thrive, with the right care. In my experience we have to take care for a lifetime. She is so blessed to have you. I was surrounded by a family who cared. I hope wonderful doctors discover a way to heal her and you different ways to alleviate her pain and help her grow.

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