three flights in three days with an almost-three-year-old: RP103 update

We went on our fourth trip to Stanford last week.  Ashton wasn't able to go because she started having pre-term labor contractions the day before (she was 32 weeks pregnant).  She spent most of that day in the hospital while they monitored her progress.  She didn't progress into full labor, so they sent her home and recommended she not go to California.  So I got to take Sam all by myself.  I'd never spent so much one on one time with him, so it was a really fun and special trip.  Ashton had never spent so much time away from him, so we had to google video chat whenever we could so she could get her Sam fix.

We arrived in Palo Alto on Sunday, June 10.  Sam is a champion flyer -- he's done it so many times now.  He always konks out right after takeoff and usually wakes up right before we start our descent.  We got settled in at our hotel and Sam got pretty hyper.  He tripped over a cord and nailed his forehead on the desk in our room.  He got a big old goose egg, which he started trying to "get off" with his hand.

We spent all morning Monday at Stanford.  We rolled in to the clinic at 8:00 a.m., just in time to give him his medicine.  It was just my luck that his g-tube button clogged, so I had to take off the tubing and use a little ramrod and slip tip syringe to open it back up, all with Sam flailing on my lap.  He HATES it when we mess with his button. Suvarna, the study coordinator, walked in the clinic lobby during this little episode.

After we got his medicine in the nurses started getting his vitals.  I didn't know how he would do without Henry there giving him moral support, but he did great!  He let them take his blood pressure, kept the thermometer in his mouth and hopped on the scale like a boss.  Next it was time for the blood draw.  He always fights it, and cries a little, but once the needle is in he usually calms down.  I think it's the anticipation that kills him.  He did pretty well this round and filled up all the tubes pretty fast.  After that we had to put the urine collection bag on him.  He hates this part most of all, even more than the blood draw.  He always fights and kicks and screams, but we were finally able to get it on.  It must be pretty uncomfortable to wear because he always starts walking like a grandpa penguin once it's on.  With the bag on we were ready to walk over to the children's hospital to get the required ECG.  Sam held Suvarna's hand the whole way.

As soon as we got in the ECG room Sam started fussing, but I just took his shirt off and threw him on the table.  This is the part where we really need Henry's help.  I got him to lie down somehow, and then he lay perfectly still while the tech put 13 stickers on his chest and abdomen.  He barely moved at all and we got a good ECG read on the very first try.  That was a relief!

Next I had to get the pee-bag off.  They gave me some adhesive remover wipes, which helped, but he still screamed the whole time.  Once that was off the worst was definitely over.  Then we just had to wait to meet with Dr. Grimm.

Dr. Grimm is the bomb.  He was on service at the hospital that week, so he was very very busy.  But he took time off to come over and meet with us.  He never acts rushed and he always takes plenty of time to answer your questions.  I had a lot of questions this time:

Question 1: At what point do we need to raise the dose on his RP103?  His last levels from Stanford came back really high, which was extremely stressful for us.  Have we been undertreating him for the last 3 months?

He said that everybody's level fluctuate, and that you have to get high levels on two consecutive visits in order to change his medication dosage.  He noted that Sam's cystine levels had been very low when we rechecked shortly after, which indicates that the levels definitely fluctuate.   He felt that most of the time Sam's levels are probably just about right.  

Question 2: How do we monitor his kidney function, since he isn't in kidney failure?  Cystinosis causes Fanconi syndrome, so how do we measure if that is progressing?  Sam didn't used to have problems with acidosis, but now he has to take Poly Citra K to keep his blood pH neutral.  Is this a sign that his Fanconi syndrome is getting worse?

He said there are three main ways we monitor the Fanconi syndrome.  At this age, we look at his phosphate levels and we look at his growth.  If his phosphate levels are adequate, then his proximal tubule is currently reabsorbing enough.  If he is growing, then he is also reabsorbing enough, and it's unlikely that the Fanconi's is getting worse.  

The third way they monitor progression of Fanconi's is to measure protein in the urine.  He said we would start doing this when Sam is a little older, like 5 or 6.  Because Sam has a finite number of nephrons, and many of them were damaged prior to his treatment, as he gets older those nephrons have to do more work.  Eventually this can lead to hyperfiltration damage, which results in protein leakage.

Dr. Grimm felt it was unlikely that Sam's disease has progressed because his phosphate levels look good and he is growing.  He said that the need to start Poly Citra K was probably more reflective of him getting bigger and his nephrons have to work harder to reabsorb more bicarbonate.     

Question 3: What is the best way, in his opinion, to test a newborn for cystinosis?  Do we just measure the cystine levels, like we did with Sam, or is it worth it to do genetic testing as well?

This is something we've asked just about everybody, so it's always nice to get another expert opinion.  He felt that the routine cystine analyte test was the most reliable way, and testing cord blood or infant blood should be just fine.  This is what our nephrologist, Dr. Nelson, thinks as well.  He didn't know much about the genetic test, but he said if it was cheap it wouldn't be a bad idea to do it, just as a confirmatory test. 

Question 4: When is the best time to measure electrolyte levels?

Dr. Grimm said the most important electrolyte you measure is bicarbonate, but that you don't need to get super serious about it unless the child isn't growing.  He said the best time to measure bicarbonate is right before his next dose, when his blood levels are theoretically the lowest.  This way you see the worst levels.  

Question 5: What is your opinion on growth hormone shots?

Many children Sam's age are already on growth hormone shots, so we've looked into getting that going.  Dr. Grimm said Sam appears to be doing very well on growth and that we could wait.  He said we should help Sam have the most normal experience possible, and adding daily shots probably isn't the best thing unless absolutely necessary. 

So we had a great visit at Stanford.  Then we packed up went to the airport and flew to Newport Beach to spend one day with family while they were vacationing there.   Sam was so excited to see his cousins, especially Abby.  He chanted her name for the rest of the night.

On Tuesday we hit the beach and let Sam play in the sand.  He splashed in the water a bit too, but one wave ruined everything when he got saltwater in the face.  He just doesn't handle oral surprises very well.  He started coughing and gagging and threw up a little in the sand.  Then he wanted to take all his clothes off and run around in his diaper.  We all decided we'd had enough beach and headed back to the resort to swim in the pool.  Sam had a blast in the inflatable rocket ship Lauren bought him.  He made me push him all over the pool so he could throw a sponge ball and Seth's fiance Hilary.  Good times.

Sam was very sad to say goodbye, but we had to hit the airport Tuesday afternoon.  He cried Abby's name all the way through security and all the way to the gate.  He perked up when he saw our airplane through the window.  We were some of the last to enter the plane because I had to stop and give Sam a feed.  As we walked down the aisle the male flight attendant asked where our seats were.  I told him row 22 and he picked Sam up and carried him to the back of the plane.  Sam was pretty stunned and all the people at the back of the plane got a kick out of it.  I found a spot for our luggage and joined Sam.  He was out cold in minutes, and he slept all the way back to Utah.  He didn't wake up till I got up to exit the plane.

Three flights in three days with an almost three-year-old.  I had to change all the diapers, give all the meds and all the feeds.  I didn't sleep much, and when we got home I was pretty exhausted.  It was a fun male-bonding adventure though, and it definitely helped me appreciate everything Ashton does for Sam everyday.  She is a supermom.