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.
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