Sunday, September 8, 2013

Sam's Eye Drop Chart

If we ever need to motivate Sam to take his medications, this is how it's done.  He's really good about it now but in the beginning we had to make it fun.   For each BINGO, a reward can be given.

Tuesday, August 13, 2013

how to give procysbi with a g-tube

Here is a quick movie we made to show how we give Sam Procysbi, the new form of cysteamine.
Sam takes four large pills (75mg) and one small pill (25mg)

Thursday, July 11, 2013

Cystaran: The New and FDA Approved Eye Drop

   The day has come... dun dun dun.  Sam has finally started taking hourly eye drops.  If untreated, crystals accumulate in the eyes causing photophobia and can eventually lead to blindness.  From what I've heard, the crystals feel like you have sand in your eyes.  We're starting Sam off small just so he can get used to the idea.  I prepared him for about one month before by talking about the new drops that were coming in the mail.  He seemed excited the day the package came.  I explained to him that it might feel "funny".  The drops can burn but I didn't want to tell him that and scare him.  He takes the drops six to seven times a day and doesn't seem to mind.  I don't set an alarm.  We just do them when we can... easiest medication yet.  Sam says the eye drops are his favorite.  I agree with that.  Eventually he will take them every hour he is awake.   It's a work up.

Sam gets a sticker every time he takes his eye drops.  He gets to watch a show every time he reaches the ten sticker mark.  I have been very impressed with his mad-eye-drop-taking-skillz.  

Monday, April 22, 2013

2.2 Million Dollars for Cystinosis Research!

Thanks to the kind and generous donations of our friends and family, we were able to contribute $9,626! 

We were blown away by the generosity of all the people who donated.  When we first set up "Sam's Hope for a Cure," we expected we might raise $2,000 the first year.  We thought it would be pretty cool if we raised $5,000.  But we pulled in almost $10,000 with just a letter campaign!  Talk about amazing friends and family!  

On Wednesday we crammed one cooler, two suitcases, three bags, two carseats, a stroller, a diaper bag, and two wild children into our little Honda civic, then drove eleven hours to Newport, California for the Cystinosis Research Foundation annual conference over the weekend (we actually stopped in Hurricane, UT Wednesday night and finished the drive on Thursday).  

Since Sam is not potty trained when he's away from home, we stopped for diaper changes every 2 to 3 hours along the way.  Despite the diaper changes, he still kept soaking out of his pants so we arrived at our fancy hotel with one really excited and pant-less three year old boy and his smiley cheeto face baby brother in a horrifically smelly car.  The only option for parking was valet (I feel so bad someone had to sit in our car).   I think we brought a new culture to the hotel that evening.

On the night we arrived we met many families with children with cystinosis, and a few adults with the disorder.  It was pretty neat to spend a weekend with people who actually understand how our family lives on a daily basis.  I guess you can say we have the same "normal".  We didn't have to explain why our son wasn't eating his dinner or why he has a feeding tube, etc...  It was awesome to see Sam make friends with all the other little kids, like long lost siblings.  He and Hank are still best buds.   They ran amok pretty much the entire weekend.

On Friday and Saturday we were able to hear brilliant doctors share their current medical research findings.  It was amazing.  AMAZING!!!  More to come on that, but I just want to share that the Cystinosis Research Foundation raised $2 million this past year.  Over $400,000 of that came from families raising money in their communities.  A big chunk of it came from the Saturday night dinner and auction in Newport Beach.  ALL of the money goes towards research.  100%, thanks to the generosity of the Stack family.

Stephen and I were happy to give them the money we raised in our first fundraiser.  Thank you to all our wonderful family and friends!  We are truly grateful for the support that our community has given us.  Attending the conference has given our family hope and has also made us realize that a cure for this disease is within reach.  We truly do believe in a cure.

Because we were having so much fun playing, I didn't get any cute pictures of Sam with his friends.  Mommy fail.  We're hoping the event photographer took at least one or two pictures of Sam while we were there so I can steal one.

These are pictures from before we left.

Thursday, March 21, 2013

another cystinosis appointment with dr. nelson

Next week Lars will be eight months old.  He is doing just fine.  Our one concern is that he dropped from the 94th to the 70th percentile for length and from the 80th to the 56th in weight.  This wouldn't concern most parents because he's still a pretty big boy.  However, getting a kid with cystinosis to gain weight (or even eat a chip) is incredibly difficult sometimes.  Luckily Lars likes food.  I just fed him two bowls of rice cereal, a jar of carrots and a jar of squash.  Now he's eating puffs.   Tonight I'll add butter to his puffs.  We'll get him back up to speed.

Also, renal function levels still look perfect.  There is nothing about him that might suggest he has a disease.  Blood work and growth look great.  When Sam was at this age he was falling lower and lower on the charts,  his head was too big for his little body, he wasn't standing with help, he gagged every time he saw a puff, and he was drinking water excessively (and then he'd throw it up).  

This whole early diagnosis thingy is really working out for us. 

On a dimmer note, Dr. Nelson says Sam will most likely need his kidney transplant while he's in high school.  We have been PERFECT with his medication.  I NEVER miss a dose.  I haven't accepted this yet.  I'm probably in denial but I think Dr. Nelson is wrong.   Naivety is bliss so I'll just waltz for a few years.

Saturday, March 9, 2013

Human Anatomy Lesson

 He likes to be a tease by saying his heart is in his head.  I tuckered out and never made a brain, which he keeps reminding me to do.

And that's how it's put together.  Somewhat.  A+.  He's putting one of the kidneys on himself to show where they're at.  He says he wants to be a doctor and a pilot when he grows up.  Go for it, Sam!

Monday, February 25, 2013


We got a great booklet in the mail from the Cystinosis Research Foundation on cystinosis and the brain.   I knew very little about cystinosis and the brain before reading the booklet so I felt pretty lost.  The booklet helps me be aware of the neurological problems Sam and Lars may have difficulty with.

Sam has been having difficulties with his speech and it creates a lot of frustration for him.  In August he was approved for an IEP (Individualized Education Plan).  The first time he went through testing I was told he is bright and most likely will not qualify.  I asked to have testing done a few days later because I was most concerned with his speech and I didn't think they spent enough time in that area.  Different therapists tested him the second time, and sure enough he qualified.  He's a sharp kid -- just unintelligible.   Since then he has been attending a special preschool one day a week to help him with oral motor skills.   

Stephen and I found the game Cariboo at DI for $2 last summer and turned it into a speech game.  Not my idea.  One of Sam's old speech therapists had the brilliant idea so we copied her.  It has worked well to motivate him with his speech. 

In short:  Sam puts a few bouncy balls in the three holes at the top and they filter down to one of the squares.  Sam has a special key that opens up each square after he says the word.  If the square has a ball, then he gets to put it in the right side hole.  When the hole is filled the treasure box opens and he WINS!!!!  I put stickers in the treasure chest.  Candy is never a motivator for him.

I made my own cards for the game.  It didn't take forever (sometimes I lie).

It has been a real hit.  Mission accomplished. 

Sunday, February 10, 2013

let's make paint

I was told you can make paint from sweetened condensed milk.  This came in handy when Sam wanted to paint and we didn't have any.  Edible paints.  Yippee.

Thursday, January 31, 2013

A Funny Sam Story. And. More. Lars.

 Before leaving the house I told pant-less Sam that he needed to put on some jeans.   He was a little confused about the clothing organization in his dresser because he kept calling to me in the living room, "This drawer, mom?  Are my pants in this drawer?  What pants?"  I told him to just bring some out to the living room and I'd help him.  He entered the living room carrying the entire drawer that he had pulled from the dresser (that's a big block of wood).  By the time he carried the drawer from his bedroom, through the kitchen, and into the living room, all the pants had fallen out.  Funny kid.  

And now some more photos of our SIX month old.

Photo overload?  Our computer thinks so.