Meet Charlie.
This one year old, spunky, adventurous, little princess has the most contagious smile. Upon first glance, you would never know the battle she fights day in and day out. Charlie has been diagnosed with FPIES , MCAD, inflammatory bowel disease, CSID, and intestinal malabsorption. Here is a little of her story.
After a series of violent reactions that sent her into shock, Charlie was diagnosed with FPIES, Food Protein Enterocolitis Syndrome, at 6 months of age. FPIES is relatively unknown due to it’s rarity so let me briefly explain. The FPIES Foundation defines fpies as a rare type of food allergy that affects the gastrointestinal tract. Classic FPIES reactions typically occur two or more hours after ingesting the "trigger" food and typically involve profuse vomiting, diarrhea, and can progress to shock. Reactions can be life threatening and require immediate medical attention. Unlike your typical anaphylactic allergies, FPIES is a severe, delayed, non IgE cell mediated allergy and laboratory testing for “triggers” are currently nonexistent. To add to the frustration fpies presents, it can take up to 15 introductions of a food to cause a reaction. New foods must be given in trials in order to figure out a trigger. FPIES presents itself in 2 ways:
1. Acute reactions, which consist of repetitive vomiting, diarrhea, dehydration, pallor, low BP, hypothermia, and vomit to shock symptoms which all appear 2-10 hours post ingestion of a trigger food.
2. Chronic reactions, which consist of chronic watery, bloody, mucusy, diarrhea, weight loss, failure to thrive, lethargy, and abdominal distension
Charlie is currently Acute to rice, oats, dairy, peas, and eggs. She is chronic to soy, pumpkin, amoxicillin, azythromicin, and red dye. She vomited to shock with both rice and oats. She has also developed hives from yellow squash and the azythromicin.
During a biopsy taken during her first endoscopy and colonoscopy, Charlie’s doctor also discovered that she has CSID, Congenital Sucrase-Isomaltase Deficiency. CSID is the inability to digest certain sugars due to her lack of the digestive enzymes, sucrase, and isomaltase. This inhibits her ability to digest sugar and starch and causes her diarrhea, painful gas, abdominal distention, malabsorption, and can result in weakness, dehydration, and muscle wasting. Currently, Charlie is doing enzyme replacement therapy and takes Sucraid before and during meals to help treat the symptoms of CSID.
Unfortunately, when you combine these two diseases, things start to get extra tricky.
Charlie stopped accepting solid foods around 8 months of age. She was literally terrified to eat after suffering so many vomit to shock reactions during her first introductions to solid foods. She also refused anything from a bottle, sippy, straw...anything. Except Mommy. She would nurse round the clock. Every hour, on the hour. 24 hours a day. I had to cut out all of her known triggers from my diet but unfortunately we didn’t have any way of knowing them all at the time. Charlie was reacting chronically through my breast milk and started losing weight, fast. After a few trips to the ER for IV fluids due to her losing more than she was taking in, it was time for the NG tube to be inserted. It has literally been her saving grace. At first it was predominantly for fluids and then we started pumping feeds through it. She began to eat again thanks to persistence and feeding therapy, but has recently regressed. She will accept anything you offer her, which is an amazing turn around! However, the quantity is null and void and what she is ingesting is coming out unabsorbed. In the summer of 2018, Charlie had a JPEG feeding tube inserted in her stomach. A few short weeks later, she upgraded to the Mic-Key button G tube and uses it as her primary source of nutrition and hydration.
With Charlie being allergic to milk and soy, she started a prescription formula called Elecare. Elecare is corn based. Corn is a starch. She cannot digest starches without Sucraid, but milk and soy have the potential to send her into shock upon ingestion so corn is the lesser of 3 evils. See, told you it gets tricky. The Sucraid is working, however, figuring out the perfect dosage for a continuous pump of feed has been trial and error. Luckily, we are finally starting to get it all figured out.
Currently, Charlie is putting on weight due to the success of the G tube and is beginning to thrive once again.
After biopsies from multiple surgeries and an elevated f***l calprotectin, Charlie is suspected of having inflammatory bowel disease. She is currently being treated to combat bacteria in the gut because she is too young to receive treatment for Crohn’s. We are praying this is an acquired issue and that once her gut heals from FPIES she will grow out of this as well. Her GI has her on wonderful treatment for it currently and it is working wonders.
In January of 2019, Charlie was referred to Cincinnati Children’s Hospital for a multidisciplinary approach to her health care. After a week in their clinic, she was diagnosed with Mast Cell Activation Syndrome. MCAS forms part of a spectrum of mast cell disorders involving proliferation and/or excessive sensitivity of mast calls. It presents with a wide range of symptoms in multiple body systems, ranging from digestive discomfort to chronic pain, mental health issues and anaphylaxis. For Charlie, it means that she deals with flushing, issues with temperature regulation, hives, rashes, swelling, inflammation, heightened GERD symptoms, histamine dumps that result in hysterical screaming and body twitches, fast heart rate, and trouble breathing. MCAS also presents simultaneously in patients that have Ehlers Danlos Syndrome (a connective tissue disorder) and Postural Orthostatic Tachycardia Syndrome, both of which Charlie’s Mom was just diagnosed with. The entire family is about to visit a geneticist to hopefully uncover more answers.
For more information on FPIES, CSID, MCAS, IBD and feeding tubes, please visit the websites listed below. Feel free to share this page. Awareness=Action. Bringing rare diseases to everyone’s attention is the best way to ensure these diseases become more widely recognized. Awareness helps to educate parents and health care providers to ensure diagnosis and help fight for a cure. Also, prayers are always appreciated. We believe in the power of prayer.
www.fpiesfoundation.org
www.csidcares.org
www.feedingtubeawareness.org
www.mastcellaction.org
www.crohnscolitisfoundation.org
