World Rare Disease Day 2015

World Rare Disease Day

Today February 28th is World Rare Disease Day. This is a day where people who struggle with a rare disease and/or disorder are recognized. It’s a day to spread awareness and give others insight. So there’s no better day than today to share my family’s rare disease story.

My FPIES Kiddo

Rare Disease Day FPIES

I always had a feeling my little guy was going to give us a hard time. My pregnancy with him put me through the ringer. But I never expected to have our lives completely turned upside down. He was a hefty 8lbs 11ounces at birth with a full head of hair. Just an absolute cutie and I was in love. Then the vomiting started. After every time I would nurse him (and since he was just born it was all the time), he would spit up after. I felt that this was a little unusual so we called in the nurse, who then spoke to a doctor. They felt he had swallowed to much amniotic fluid and need to have a deep suction to help get it out. Those screams that we heard while they performed the procedure in the room next door were absolutely heartbreaking. I prayed that he would never have to endure anything like that again. How I wish that was the case. Things seemed to be better and even though he lost a little weight we were sent home from the hospital with a clean bill of health.

At three and half months he was diagnosed with GERD and was given medication to help the vomiting. He was also having mucusy poops that smelled like buttered popcorn but I was assured that this was normal for a nursing baby(but let me make this clear that its not!). Along with the medication it was suggest to start rice cereal. This is where things started to get much worse. I was at work when I get a call that my son is vomiting so violently and has gone ghost white. I left work immediately and took my son to the hospital who by now had passed out from all the vomiting. He was pricked and poked and tested. He was discharged the same day with a diagnosis of a stomach bug. That answer didn’t sit too well with me. I was told to continue the rice cereal. The next day I feed him and he was napping in the crib when I heard a horrible noise. I run in to see my baby projectile vomiting everywhere. It had been exactly two hours since he had eaten the rice cereal. A trip to the doctor and the same answer must of been a stomach bug.

Image from 	International Association for Food Protein Enterocolitis (IAFFPE)

Image from International Association for Food Protein Enterocolitis (IAFFPE)

This ugly cycle continued until he was almost a year old. But with different foods and it was not always vomiting, sometimes he was having stomach pains or diarrhea. We were no where with answers and now our child who was such a hefty newborn was under weight and losing it. Another heartbreaking day was when the words Failure to Thrive were said. I felt like such a failure as a mom. My son was sick I couldn’t help him. He couldn’t eat, one of the things we need to do to survive.

Just before his first birthday we finally got to see a GI specialist. The minute she went over my sons completely hospital history and listened to everything I had tracked my self she told me she suspected a condition called Food Protein Entrocolitis Syndrome, FPIES. To have a diagnosis finally was such a weight lifted off of us. She then told us that she was sending my sons case to another doctor she knew an Allergy Specialist who not only was familiar with the condition but has been studying it for over 10 years and wrote a few medical papers on it.

See FPIES is very rare, affecting about 1 in 100,000 children. One of the first signs of it is the buttered popcorn smelling poop. Anther is having a reaction to rice cereal. FPIES can be dangerous if left untreated. It does not display typical food allergy reactions. My sons reactions are almost never immediate, usually two to three hours after consuming a non-safe food. It will either be stomach pains, irritability, and then diarrhea. Or it will be the violent vomiting until he passes out, this is called shock and can lead to a coma or death. The hardest part is there is no real treatment or testing for his condition. It is diagnosed through medical history. Most children require no medication and are put on strict diets and slowly try out new foods either at home or in the hospital. For my son he was put on medical formula to help make up his lost weight and the nutrition he so desperately needed. We have slowly built up his safe foods and with the help of his formula he was able to catch up and become a healthy and very active toddler.

My son is now over 3 years old. He has more safe foods and we continue to see him grow and thrive. Just a few months ago he was able to wean off the medical formula because of how well he is doing. I share my sons story when I can, I just hope that by sharing it that another family can get the help they need and that they won’t have to go through the agony and stress waiting for a diagnosis. Sorry for such a long post and so late in the day but trying to write everything out is hard and even harder to condense.

Today was World Rare Disease Day and we were proud to wear our jeans in support of our sons rare genes.

Cruzin Mama

Jeans for Rare Genes

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