Monday, August 23, 2010

Emergency Room

After Sam's last rash/fever episode, our doctor told us to take him off the cystagon for a week. We met with our doctor on Friday and talked about the symptoms. Ashton had gotten sick shortly after Sam with flu symptoms, and Sam's lymph nodes were swollen. The doctor remarked that it was very possible that Sam's rash and fever were due to a seasonal flu, and that we'd probably never know for sure. He recommended we start the cystagon again, and this time increase the dosage more gradually.

We gave Sam his first 50 mg dose at 7:30 p.m. on Friday night. Around 1:30 a.m. we woke up to give him his next dose, and discovered that he'd been throwing up. This isn't totally uncommon at night and when Sam gets dehydrated, Ashton quickly rinsed him in the tub, gave him his next dose of cystagon, and put him back to bed. At about 4:30 a.m. Sam threw up again, and he was shaking a lot. We gave him another bath and checked his temperature. It was at 101. We brought him to our bed to keep a closer eye on him. I checked his temp again around 5:00 and it had gone up to 102.3. We decided that if it was rising that fast we needed to contact a doctor. We couldn't get a hold of anyone in his specialist's department, so we got in the car and went to the ER at Primary Children's.

The ER is always an awful place. You go there at your most vulnerable and shaken time, and every one working there seems totally oblivious. It's not that they're bad health care providers. They're just at work, chatting with their co-workers, telling jokes and that sort of thing. It really gets to the patient though. We were taken to a triage room and the nurse gave Sam 100 mg of Tylenol to bring down the fever. It started working pretty fast.

We were taken to a room and waited for our doctor. We saw a resident, then the resident's supervising doctor, and finally the attending physician (who happened to be the Dean of Student Affairs for the medical school, and the man who read off my name as I received my white coat and stethoscope at Friday ceremony). They all told us the same thing: we just want to make sure he stays hydrated and don't give him any more of that drug. We got discharged around 7:00 in the morning and decided that the 100 mg of Tylenol will be very expensive.

Friday, August 13, 2010


So on Wednesday we took Sam up to Bountiful to swim at our family friend's the Holt's pool. Usually he loves swimming but he only splashed around for the first several minutes and then he became tired and a little fussy. When we got home we took him to Lindsey Gardens for an elder's quorum barbecue, where he was pretty mellow and quiet. When we got home he was really warm, so we checked his temperature. He was burning at 99.8, which isn't a huge fever. When we woke him up at 1:30 for his cystagon we checked his temperature again, and it was at 101. He woke up Thursday morning and was very fussy. You could tell he didn't feel well because he wanted to be held all the time, and he was very cuddly. His temperature had come down, but he was very sluggish.

We conveniently had a well check appointment with his new pediatrician, Dr. Ralston, at 9:45. It was the fastest, most efficient doctor's appointment I have ever witnessed. We got there at 9:40, checked in, and were in the exam room by 9:45. The doctor came in at 9:50 and spent a good half hour with us. He was very thorough and wanted to know all about Sam's condition. He was recommended to us by our neighbor across the street, who just finished her pediatrics residency. She said he was the best, and we figured if a pediatrician has a favorite pediatrician, that means something. He specializes in development and behavior, so we figure we'll have Sam covered pretty well with his specialist taking care of the medicine part. Dr. Ralston was concerned that the fever might've been connected with dehydration or Sam's medicine, and said he'd call Dr. Nelson, our specialist, to see what we should do.

Later in the day a rash appeared on Sam's cheeks and arms and legs. It got worse and worse as the day progressed, so Ashton called Dr. Nelson's office. She talked to the NP, who said that a fever and rash is a common side effect of cystagon. The NP talked to Dr. Nelson, who had her tell us to take Sam off the cystagon for a week. Apparently Sam isn't tolerating it well. We've had him on 50 mg to start, but he needs to get up to 150 mg for his weight. After a week of 50 mg he didn't seem to have any problems, so we upped it to 100 mg. I guess this was too much too fast and triggered the fever and rash. Besides the fever and rash it also seemed to kill his appetite, and it even made him throw up a few times. So we stopped giving him cystagon yesterday. Today he woke up and the rash was worse, but he had a lot more energy and seemed to be happier. Cystagon is the drug that matters the most, so hopefully we can get him adjusted to it.

Tuesday, August 10, 2010

Happy First Birthday!

This is a belated post because I was waiting to collect some photos. Sam's birthday was July 24, which is conveniently accompanied by the fireworks of Pioneer Day. Ashton did a "Spot" theme for the party, because Sam really likes the "Where's Spot?" pop-up book. This consisted of pancakes and garlands made of cut-out circles and pictures of Spot the dog. Sam got a truck load of booty. He got some great books, clothes and toys, toys, toys! We really liked the Wheely-Bug that Sam's great-grandma Jackie helped us purchase. He likes it too. Thanks to everyone for the gifts and for attending Sam's special day, and thanks to Maryn, Mom and Alpha for the photos!

Sunday, August 8, 2010


This last week we visited my grandparents while they stayed at the Mountainside Resort in Park City. We took Sam swimming for his second time, and he loved it. He shrieked and splashed and laughed the whole time.

Thursday, August 5, 2010


Once after a particularly grueling day at Primary Children's lab we decided to reward/console Sam with a new toy. We knew Sam had a lot of toys already, but most of them are from generous grandparents and aunts, or they are toys that Ashton and I have held onto from our own childhoods. We wanted to give him a toy from us, maybe to ease our guilty consciences after watching him get poked with a needle so many times. So we took him to Three Little Monkeys in Bountiful and chose out a boy baby doll. I made sure we found the most masculine doll they had, and when we presented it to Sam he immediately grabbed it and gave it a hug. When we went to checkout the cashier took the doll to ring it up, and Sam reached out his hands for her to give it back. She did, and he again gave it a tight hug. Within a week his interest had waned, and I had a bit of buyer's remorse. In the last couple weeks, however, he has become very attached to Charlie again and wants to take him everywhere.

Wednesday, August 4, 2010

Sam's Diagnosis

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.

Tuesday, August 3, 2010


Sam was diagnosed with nephropathic cystinosis last week.

Cystinosis is a rare genetic disease that affects approximately 500 children and young adults in the United States.  It is a metabolic disease in which the amino acid cystine gets trapped inside cells because of a defective transporter protein.  Cystine crystallizes in the cell, causing cell death.   This process slowly destroys the organs in the body, including the kidneys, liver, eyes, muscles, thyroid and brain.  

Cystinosis is an autosomal recessive genetic disease, meaning that both parents are carriers of the abnormal gene that leads to the condition.   Parents do not exhibit any of the symptoms of cystinosis.  In such couples, the odds that each child will have cystinosis are 1 in 4.  My father's sister has two children with cystinosis and three unaffected children.

Cystinosis is the most common cause of Fanconi syndrome, a kidney disease.  Patients are unable to reabsorb electrolytes and minerals from the urine that is filtered in the kidneys.  This results in loss of large volumes of urine, salts, minerals and glucose. The first signs of cystinosis are usually severe dehydration from excessive urination, as well as vomiting and growth failure.  Patients also develop severe electrolyte abnormalities, including low potassium, which causes muscle weakness, lethargy and can lead to cardiac arrhythmias and death.  Loss of phosphorus in the urine leads to rickets.

After one year of age, cystine crystals develop in the cornea and cause a severe sensitivity to light (photophobia).  In time, patients can develop problems such as hypothyroidism, severe muscle wasting and central nervous system complications. These children have normal intelligence, but often have problems with short-term visual memory.  Many have poor GI motility.

Without specific treatment, children with cystinosis progress to end-stage kidney failure by an average age of nine years.  In the past, this meant death.  Today most patients can receive kidney dialysis or transplantation, but even with successful transplantation, the disease continues to destroy other organs.

Fortunately in 1994 a drug called cysteamine (Cystagon) was approved for cystinosis.  This drug slows the progression of the disease by removing cystine from the cells, but it must be taken every six hours, including during the night.  The drug has unpleasant side effects, however, including a foul odor and hypersecretion of gastric acid, leading to gastrointestinal distress.  These side effects and the every six-hour schedule lead to poor medication compliance.  Even with perfect compliance, however, the disease continues to progress.  Cysteamine is not a cure.

Before Sam's diagnosis our pediatric nephrologist thought he might have Bartter's Syndrome, which has similar symptoms at this age. Sam's main symptoms were excessive urination, excessive thirst, poor weight gain, vomiting, constipation and general weakness. When the doctor examined Sam's blood work he had very high levels of aldosterone and renin, with correspondingly low potassium, sodium and phosphate. Two weeks ago the doctor started him on salt supplements for the latter three. Since then Sam has stopped throwing up, is no longer constipated and has a lot more energy. He has been drinking Pediasure for the last month or so for weight gain, but he was throwing up too much of it to actually get anywhere. In the last two weeks, with the help of the salt supplements, Sam has gained a full pound! This is a major breakthrough, since he hasn't gained weight since December. At 15.7 pounds, he's still off the charts low for a one year old, but we're hopeful that he'll catch up now that he's getting treated.