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.

Dear Aunt Morgie, Easter went like this...

a delicious dinner and a delicious dessert.

mormor and lars

 

over 200 water balloons gone in ten minutes.

Jane and Nicholas

a dog.  an uncle Taylor.

an easter egg hunt and a jelly bean trail leading to jake and the neverland pirate treasure.

some cousins.

TWINNERS!

Guess Who?

Lars at eight months.  Sam at his one year birthday party. 

Alpha Smoot took the picture of Sam.  Allie, your photography is amazing.  They really do look a lot alike.  Presh.

p.s. Sam was diagnosed with cystinosis less than a week after this picture was taken.  Because of rickets, he couldn't put pressure on his hands like Lars has been doing for weeks now.    Today,  Sam is strong, energetic, and right now he is sharing his duplos with his brother.  He's really thoughtful... and a little bit bossy too.

we drive a red, radio flyer, ATW, all terrain cargo wagon. year 2011.

 

In Sam's head he is thinking, "just stop taking photos and pull us already". 

Sam. Lars. Reid. Henry.

 

 

We're always looking for peeps to join us so come on over.

a swing for sam's posse

This is Macey Lou Freebush.  Sam and Lars are her humans.

Lars is Macey's baby.  She will attack if a stranger goes near him.

And here is the swing Sam helped me make for his beanie babies.  It provided some much needed entertainment for the morning.

The new toy shelves.  Ya think we have enough toys?

He's adorbs.

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.

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!

syringe

a boy and his dog syringe

just a sweet baby

 

 

Food Glorious Food!!

Growing up my family ate a lot of crepes on Saturday mornings.  It's sorta kinda like a tradition.   Sam loves to place fruit inside them and roll them up.  We are still trying to teach him how to love eating them but he tries a bit here and there.  He liked the whip cream best.

When Sam doesn't want me to take photos of him he always places strange objects in front of his face. 

cheese.