Rare Disease Day 2012

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Rare Disease Day, 2012

Today, February 29, 2012, is Rare Disease Day, sponsored by the National Organization for Rare Disorders (NORD). In honor of this day, I'd like to share what it's like to be the mom of a child with a rare disorder.

My son, Matthew, has Food Protein-Induced Enterocolitis Syndrome (FPIES), a rare food allergy of the digestive tract. He can not eat meats, legumes, grains, dairy, or soy. Matthew was exclusively breast fed until he was six months old, and we had no clue that anything was wrong until we first introduced solid foods. Everything seemed normal for four days...he was just a normal baby learning to eat rice cereal. Then, on day five, exactly two hours after eating, Matthew started to vomit repeatedly. He continued to vomit and dry heave in 5-10 minute intervals for two hours. Between dry heaves he would lay his little head on my shoulder and pass out. I had no clue what a lethargic baby looked like, and I now know I should have taken him to the hospital, but hind site is 20/20. This was the beginning of our FPIES journey. Though he had no fever I suspected a stomach bug...until one week later when we gave Matthew rice cereal again. His reaction was like clockwork, only the severity had increased. For FPIES children, they usually have to eat their "trigger" food a few times before their first reaction. Then after the first reaction, they will react every time they are exposed to the trigger food, even if they have less than a teaspoon of it. There are many other symptoms of a reaction as well, including blood or mucus in his stool, and diarrhea, but it's the vomiting that first catches your attention...that sets warning bells off in your head, telling you something is just not right with your baby.

FPIES is caused by the actual cells in Matthew's digestive tract rejecting the proteins in certain foods (and ALL foods have protein, not just meat). The most common foods to cause FPIES are dairy, soy, rice, oats, barley, beef, chicken, turkey, sweet potato, squash, string beans, banana, peas, lentils, and fish. When your child has FPIES, you never know what food proteins will cause a reaction. Introducing a new food to your baby becomes a long drawn out process, trailing each food for 2-3 weeks, and praying that it will be a "safe" food. The hope is that as Matthew's digestive tract matures, he will eventually outgrow FPIES. This is not true for all children, but the majority outgrow FPIES by the age of four.

FPIES is so rare that most doctors have never heard of it - one study estimated that 0.3% of children have FPIES.
One FPIES expert joked that "What is FPIES?" would make a great trivia question at an allergy conference. Most
kids with FPIES (including Matthew) are misdiagnosed, and their parents first hear about FPIES not from their child's doctor, but from searching something like "vomit rice cereal" on the internet. So many parents have contacted me to say they stumbled across Matthew's website, and that reading his story was like reading about their own child. That because of his website they finally have a name for what is making their child sick. Even knowing FPIES is most likely what's going on is not enough, it's still an uphill battle to get a diagnosis. It's rare to find a pediatrician that has heard of FPIES, and many allergists and gastroenterologists are also unfamiliar with the disorder. When I suspected FPIES, I brought the name of the disorder and a list of symptoms with me to Matthew's next appointment. Without taking the time to research exactly what FPIES was, the doctor dismissed my suspicions and said that Matthew was just "a sensitive kid." To get a diagnosis I had to call around and interview allergists to find one that was knowledgeable about FPIES. We're lucky that we live in a metropolitan area...there are many FPIES families that travel six to nine hours (or more) to see a specialist familiar with FPIES.

There is no way to describe what it's like to be the parent of a child with a rare disorder. You discover strength you never knew you had, and the "Mama Bear" instinct takes over your life. People tell you they are amazed by the lengths you go to for your child, but to you it's just your normal life. It would never occur to you to do anything different, because everything you do is what's necessary to keep your child healthy. While you wait a month or more to see a specialist you find yourself immersed in medical journal articles, searching for the smallest clue on how to keep your baby safe. You discover that the best resources are other parents on the babycenter and facebook support groups. The "normal" childhood you had envisioned for your baby, with first birthday cakes or sharing food with siblings, is gone. You become an advocate not only for your child, but for every child out there with the same disorder. Until research catches up and can provide answers for these children, you feel obligated to share your knowledge with all of the parents out there. If you can help just one child, or one parent, it's totally worth it.

If you know someone who's baby vomits a LOT, especially a couple hours after drinking formula or eating, please tell them about FPIES. Send them to Matthew's site, http://fpies.bofferding.net, for information or to contact me...because for the parents of children with rare disorders, knowledge really is power.