When Samuel was born he was a beautiful, healthy baby. He liked nursing and put on the pounds quickly. But he hardly ever slept, and he was fussier than your average infant. We chalked it up to being new parents and colic.
At seven months old, Samuel had fallen from the 70th percentile for weight to the 5th percentile. He had always been a spitter, but now he was throwing up a lot. We had to start supplementing his feeding with formula, and Sam quickly learned he preferred the fast guzzle of a bottle. One time we made the mistake of giving him some water to drink. He became very excited and chugged it all. Soon he preferred water to milk and formula. He would chug and chug and chug and then throw everything up. He never slept at night because he was so thirsty. He also became constipated all the time.
Ashton took Sam in multiple times to the pediatrician’s office, but she always saw the Nurse Practitioner. The NP’s assessment was that we weren’t feeding him enough, and would basically send us away with the advice to feed him more. We felt like we were failing as parents because we couldn’t get him to eat enough to grow. We pushed the formula and solids constantly, but he kept throwing it all up. Even the sight of food set off his gag reflex.
Eventually Sam was started on Prevacid and Miralax, and a pediatric gastroenterologist prescribed him Reglan (metoclopramide) to help move stuff through his system faster. Reglan worked pretty well at slowing down the vomiting, but Sam still wasn’t growing, and he was way behind on his developmental milestones. The doctor ordered allergy tests and a sweat chloride test to rule out cystic fibrosis. All that was negative.
On Memorial Day that year we gathered for a Jenkins family picnic in Heber. Sam was having a rough day and cried every time someone took a drink of water. We’d give him a cup and he’d drink it voraciously, and then throw it all up. My grandma and Aunt Kathy were watching us, and they were concerned about Sam’s behavior. Aunt Kathy has two daughters with cystinosis, and she said they did the same things when they were babies. Aunt Kathy called my parents to ask if Sam had been checked for cystinosis. Knowing the extremely low odds that Ashton and I were both carriers, I dismissed the idea. I was in denial that there could be something genetically wrong with Sam. I just hoped if we could get him through that rough patch and eating better, he’d turn out to be a perfectly normal kid. Ashton’s intuition was more on target, and she wanted to get him tested for it immediately. I told her we could do it later, if things didn’t improve.
After we got back from a family vacation we took Sam back in to the pediatrician's office, and this time we actually got to see the doctor. He was really concerned with Sam's failure to thrive. He listened to his heart and said he could hear a heart murmur, and he sent us to the hospital to have a chest X-ray to rule out a big heart, which could be a sign of heart failure. He also ordered some blood tests. Our gastroenterologist ordered an upper GI image so we could rule out gastroesophageal reflux disease. The chest X-ray came back normal, as did the upper GI.
His blood work was not normal, however. His sodium, potassium and phosphorus were all very low. Our pediatrician referred us to the pediatric nephrologist. He thought it looked like Bartter's Syndrome, but agreed to get a cystinosis test ordered. Our dietitian told us Sam needed at least three bottles of Pediasure a day to get the calories he needs for growth. He still threw up a lot, however, and the doctor even had us take him in for a stomach X-ray and a CT scan. All that came back normal, thankfully, and finally Sam went in for a blood draw to check for cystinosis. They look at the cystine levels in his white blood cells, and it's such an uncommon test that they have to send it to San Diego for processing. We got the test results nine days later. They were positive for cystinosis.