The page contains sections on several other common disorders that may lead to tube feeding, including Eosinophilic Disorders, Genetic and Chromosomal Conditions, and Mitochondrial Diseases.
Eosinophilic Gastrointestinal Disorder (EGID) is a complicated digestive system disorder in which eosinophils, a type of white blood cell, are found in above-normal amounts in one or more specific places in the digestive system and/or the blood.
When the body wants to attack a substance, such as an allergy-triggering food or airborne allergen, eosinophils respond by moving into the area and releasing a variety of toxins. However, when the body produces too many eosinophils, they can cause chronic inflammation, resulting in tissue damage.
These rare diseases are diagnosed according to where the elevated levels of eosinophils are found.
- Eosinophilic esophagitis (affects the esophagus)
- Eosinophilic gastritis (affects the stomach)
- Eosinophilic enteritis (affects the small intestine)
- Eosinophilic colitis (affects the large intestine)
- Hypereosinophilic syndrome (affects the blood and any organ)
Source: CURED Foundation
- Reflux that does not respond to usual therapy (medicines which stop acid production in the stomach)
- Dysphagia (difficulty swallowing)
- Food impactions (food gets stuck in the esophagus)
- Nausea and Vomiting
- Failure to thrive (poor growth, malnutrition, or weight loss) and poor appetite
- Abdominal or chest pain
- Feeding refusal/intolerance or poor appetite
- Difficulty sleeping due to chest or abdominal pain, reflux, and/or nausea
The most commonly performed tests to diagnose Eosinophilic Disorders are scopes of the digestive tract. An upper endoscopy can check the esophagus, stomach, and part of the small intestine for inflammation, while a lower endoscopy can look at the large intestine. Biopsies are taken during testing to determine if eosinophils are present. Blood tests and allergy testing may also be helpful. See our page on Tests for more information.
Jacob was born September 2008. He started vomiting immediately with feedings. Our doctor said it was reflux and colic. We were in every month; she kept telling us it would get better and go away as he grew up. It didn’t and he didn’t respond to any reflux treatments.
When Jacob was 1.5 years old, he developed IgE allergies to soy. He would get hives and swell all over with any contact with any soy products. We saw an allergist who diagnosed him with allergies to soy and eggs; however, all of his skin tests were negative, and the RAST test was a much lower result than he would have expected with the severity of the reaction. I went back to our pediatrician and told him of the new diagnosis and he mentioned a condition he called allergic esophagus. I went home and researched, and it fit all of the terrible symptoms we had been witnessing on our baby for almost 2 years at this point.
After this, it still took months to get a diagnosis and find a treatment that worked. We tried the swallowed steroids. They were not something we wanted him on lifelong, but it was worth a shot, though it didn’t relieve his symptoms, anyway. Next we did the top 6 elimination diet. Still no resolution of symptoms, so we placed Jacob on an elemental diet consisting of Neocate Splash. Within 24 hours the acidic diarrhea he’d had for at least a year and a half was gone, and within a week he was having minimal pain episodes. He went from vomiting 4-6 times a day to maybe once a week. Even that improved over time!
In 2011, Jacob underwent a tonsil and adenoidectomy. Soon after, he told us the splash he had loved before was “yucky” and completely refused to drink it. A week later he had an NG-tube, and a month after that he had the G-tube placed. We were recently in our local paper and two TV stations interviewed us to spread awareness of Eosinophilic Esophagitis (EE).
Isaiah was born after a pretty normal pregnancy by C-section when my labor didn’t progress. He had no issues from the C-section, but within a day or two was refluxing really badly (projectile). We switched from dairy to soy and then a formula with added rice, and this seemed to help. Being a young mom, I figured this was normal. He was doing well until about age 2 when he was diagnosed with asthma.
At age 5 he was referred to a GI doc. He had always refluxed a lot, and by the time he was 18 months he knew to go to the toilet if he was going to be sick. At this point, I had done research and had an idea what was going on. The first GI kept saying it was just reflux and he didn’t need the scope I had been asking for. Isaiah was miserable. He had the really bad allergic shiners, lots of tummy problems, and would come in from playing outside to take a nap on his own.
Finally, I decided to get a second opinion, and took him almost three hours away for another GI doctor. After the first round of lab work came back he agreed something was going on and he needed to be scoped. The scope came back to show Eosinophilic Gastritis, and we were sent to an allergist for food testing. That came back with 17 positive food allergies. He did well for awhile and outgrew most, if not all, of the food allergies.
Around age 9 his symptoms came back and were even worse. This time, he scopes showed Eosinophilic Esophagitis (EE) instead. We started more meds and went for allergy patch testing.
He turned 12 this summer. By the end of summer I had gotten him up to 75 pounds after trying (very briefly) the NG-tube to help him. By December he was down to about 68 pounds. He tested positive for more food allergies, after having the same allergies for 3 years prior. He is now up to about 18 food allergies. With the doctor, we decided between the weight loss and the increase of food allergies it was time to do the G-tube. He’s had the G-tube not quite a month, but is handling it pretty well. I’d been preparing him for it since about age 9 when I thought it might become a reality.
Besides Isaiah being small (he’s the same size as his 9-year-old sister and she’s on the small side) he looks completely “normal.” It’s what you don’t see that makes a difference. If he didn’t have all his meds or didn’t avoid all his food allergies, he would be completely miserable. It’s been a long road dealing with this, but I think it can only get better from here.
Evie was born December, 2003. Evie cried constantly night and day. I was told it was because she was in shock, then she wanted my attention…the reasons went on. She was born a healthy 7lb 12oz, but at 6 weeks was 6 pounds, she wasn’t feeding well, and was frequently sick. I was told it was normal for breastfed babies to lose weight and to go home and carry on. At 4 months, I went to our health visitor and Evie was still only 8 pounds, and I cried and said I couldn’t do it anymore. By now Evie was also covered in eczema.
My health visitor took us to the hospital where they admitted Evie with dehydration, and we spent the next 5 days there. They decided she had a dairy allergy and reflux. We were given a special formula and 3 types of medication. From there, we spent countless overnight stays in hospital averaging at least twice a month, with one infection or bug after another. Evie had constant sickness and diarrhea, failing to gain weight, and using up to 20 nappies a day.
Evie refused to eat or feed, and the crying continued. A life of constant hospital visits began, but we never got any answers. I was told I was over-anxious, and that I didn’t know how to feed Evie, even while her older sister thrived. They questioned whether I was even bothering to feed Evie. I was sent a nursery nurse to teach me how to feed and play with her.
The final straw came when Evie was 4 and still wearing 18-24 month clothes, and still having daily sickness and diarrhea. The consultant wanted to refer me as she felt I had Munchausen-by-proxy. Angry and devastated, I wanted a second opinion. Two weeks later we saw a different consultant who looked at Evie’s notes and results of a test performed on that first hospital admission at 4 months, and we were admitted to Great Ormond Street Hospital, where they performed an endoscopy and colonoscopy (camera down her throat into her stomach and up her bottom into her bowel and colon). It was then that we found out she had a rare autoimmune disease that was attacking her digestive system. Food was making her ill – not me.
From there, we have learnt to adapt Evie’s and our life. Evie has tried numerous medicines, and 2 years ago in January the drastic decision to remove food altogether from Evie was taken. She had a nasal tube inserted, and began a diet of formula only. The formula is an elemental feed, which is free from everything apart from her vitamins and minerals. This was supposed to be a 6-week thing to reduce the inflammation in her digestive system, but Evie responded so well the diet continued. After 8 weeks we started trialing one food a week, but many foods failed.
Two years down the line she remains dairy, wheat/gluten, nut, sesame, strawberry & pork free. She still has food phobias and has no real interest in eating orally. She is still tube fed, but has a permanent feeding tube straight into her stomach; she carries her formula around in a backpack with a pump. She is now on 10 medicines a day, including immunosuppressants (low dose chemotherapy). We carry an Epi-Pen as she is anaphylactic to some foods, and has other environmental allergies: multiple pollens, cats, dogs, house dust mite and more.
General info: Evie’s condition is an autoimmune disorder, and also causes other illnesses as well: reflux, eczema, asthma, hayfever, multiple food and environmental allergies, a heart murmur and benign hypermobility syndrome.
Evie has a very low energy level and frequently uses a wheelchair when out, she suffers daily headaches, tummyaches, sickness and joint pain. Sometimes she can’t walk and can still go to the toilet up to 15 times a day. She has physio, occupational therapy, is under a gastroenterologist, rheumatologist, neurologist and detitian. We have frequent hospital visits, some planned and many not! Every day has to be planned out around what Evie can eat, medicines (4 times a day), when her feeds are due, what activities she can do, and where the nearest toilet is.
Life with a chronic illness can be hard work and upsetting but it can also be a joy. We have met people we wouldn’t have. We have learnt the small things in life are important. Evie loves all the things her peers do, she just has to do things differently or at a slower pace.
At 10 months, I came across a report describing eosinophilic gastrointestinal disease. His symptoms matched well, and it accounted for all of his medical problems at that point. I faxed the paper to our pediatrician, who read it, called me, and made out a referral to a major medical research center in the next city, explaining to us that this was not something to be reviewed by a local practice. At that time, fewer than a thousand cases of Eosinophilic GI disease were known worldwide.
Sachy had an endoscopy finally at 15 months, which showed extensive damage in his stomach and ulcerations throughout his jejunum (the second section of the small intestine), as well as blunting of all his intestinal villi. He was immediately switched to elemental formula (EO28) by mouth and NG-tube, and then by G-tube.
We learned that the main center of research in pediatric eosinophilic disease which most matched our needs was Cincinnati Children’s Medical Center, and began taking him there despite the ten-hour trip. We found a local GI doctor who was happy to work with the Cincinnati doctors, but could manage Sachy’s basic feeding tube needs and local hospitalizations. Sachy was willing to take some of the EO28 by mouth, but he did suffer from the anorexia typical of eosinophilic GI diseases, and he only ate in response to social cues, rather than recognizing hunger. He still vomited frequently, and periodically needed hospitalizations when he would react to environmental triggers. It wasn’t uncommon for him to run 105F fevers, vomiting constantly for up to a week at a time, and he would need medical monitoring and IV fluids during these periods. Still, with his feeding pump and elemental formula he was finally able to grow and develop more or less normally.
His doctors were eager to find him one or two safe foods so that he could eat something socially. He did have repeat allergy testing, which showed that his only recognizable IgE allergens were egg and soy. Still, it took several years of failed single blind tests to identify two safe foods: corn and apple. This was actually a huge development. He was able to learn to chew and swallow solids, and corn in the form of unadulterated popcorn or corn chips with no ingredients except corn, oil, and salt, were readily available for him to share with other children.
He continued to fail every other food test until he was ten years old. Suddenly, he began passing a few. We wondered if he could actually begin eating most foods. He kept eating at home, and a follow-up endoscopy showed no GI damage. He had gone into a spontaneous disease remission, which we and the doctors have never been able to explain, but for which we are extremely grateful. When he had gone six months with no need for G-tube feedings, the local GI agreed we should remove the G-tube button.
Sachy is now 13 years old. He does have occasional vomiting (sometimes early on lasting for a few days, but now normally just single episodes), susceptibility to stomach viruses, and continued poor fine motor coordination in his fingers. We have no way of knowing whether his remission might suddenly end, but we are leaving worrying about that until it happens.
Chromosomal and genetic disorders are conditions that are caused by abnormalities in a child’s 46 chromosomes. While some disorders affect an entire chromosome, many only change one or a few genes within a chromosome. Conditions may result in the duplication of chromosomes or genes, missing chromosomes or genes, and otherwise altered chromosomes or genes.
When instructions in genes are missing/incomplete or duplicated, the body may not develop and function as it should. Even minor changes in these instructions, depending on what they are, can make big differences in development.
Children with chromosome abnormalities may exhibit a wide range of symptoms. Commonly, many have low muscle tone, which leads to a poor suck response or feeding problems. Developmental delays are very common. Children may also have other structural conditions that interfere with eating.
While prenatal screening can identify some of the most common chromosomal disorders, it is not detailed enough to find many of the less common disorders. Genetic testing often comes much later in the diagnostic journey, particularly if there aren’t any outward signs of a genetic condition. We have additional information about genetic testing, including Whole Exome Testing, in the section on Tests.
Many people are aware of a number of the named syndromes associated with more prevalent chromosome disorders, such as Down Syndrome. However, the mapping of the genome brought forth new technology to identify less common abnormalities. Now with Whole Exome Testing, which looks at a child’s entire genome, there are many, many more disorders being identified. Some are even so unique that there may only be one or a dozen people affected.
Common chromosomal disorders that can cause feeding problems are listed in the Condition List.
Some children with feeding problems requiring feeding tubes are eventually diagnosed with mitochondrial diseases. These conditions, which affect the energy production of cells, are not well understood by many doctors and diagnosis can be challenging. Children are frequently misdiagnosed for years. See the sidebar on Mitochondrial Disease Testing for more information.
Mitochondria are responsible for 90% of the energy that the body needs. When mitochondria fail to produce enough energy, cells and organs do not function. With mitochondrial disease, chronic failure to produce energy results in disease progression.
Mitochondrial disease often presents as dysmotility in children with feeding problems, meaning that food is not moving through the GI tract as it should.
What is Mitochondrial Disease?
- Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function.
- The incidence is about 1:4000 individuals in the US. This is similar to the incidence of cystic fibrosis of Caucasian births in the U.S.
- There are many forms of mitochondrial disease.
- Mitochondrial disease is inherited in a number of different ways.
- Mitochondrial disease presents very differently from individual to individual.
- There may be one individual in a family or many individuals affected over a number of generations.
How does Mitochondrial Disease affect the body?
The parts of the body that need the most energy, such as the heart, brain, muscles and lungs, are the most affected by mitochondrial disease. The affected individual may have strokes, seizures, gastrointestinal problems, (reflux, severe vomiting, constipation, diarrhea), swallowing difficulties, failure to thrive, blindness, deafness, heart and kidney problems, muscle failure, heat/cold intolerance, diabetes, lactic acidosis, immune system problems, and liver disease.
What symptoms could an undiagnosed individual exhibit?
The child or adult may have seizures, severe vomiting, failure to thrive, heat/cold intolerance, poor muscle tone, delayed achievement of milestones, severe diarrhea/constipation, feeding problems, unable to fight typical childhood infections or repeated infections and fevers without a known origin. A “red flag” for mitochondrial disease is when a child or adult has more than three organ systems with problems or when a “typical” disease exhibits atypical qualities.
Think mitochondrial disease when three or more organ systems are involved!
UMDF has a comprehensive list of organ systems which can be involved in mitochondrial disease.
Mitochondrial Disease Testing
There are three primary methods of diagnosing mitochondrial disease, which are often combined for better accuracy: muscle biopsy, genetic testing, and clinical diagnosis.
- A muscle biopsy takes a sample of muscle, which is then tested either immediately (preferred) or frozen and later tested. The health of the muscle is evaluated, and defects in the mitochondria can help diagnose the specific type of mitochondrial defect.
- Genetic testing may consist of specific screening, such as DNA sequencing that is specially designed to look for mitochondrial abnormalities. Whole exome sequencing, in which the entire genome is evaluated, may also be valuable in some cases.
- A clinical diagnosis may be made based on symptoms that affect multiple body systems, along with specific metabolic blood and urine tests, and other diagnostic tests related to the affected body systems.