Monday, December 31, 2012

Saturday, December 29, 2012

Goodbye 2012

some stuff from 2012
- we had a baby.  his name is lars.
-sam started swallowing food, in small amounts.  he really likes shredded cheese.
- stephen is more than half way done with medical school.
- we got a dog named macey.
- i lost track of how many times we flew to stanford for rp103.

 i love their faces in this picture. bwah-ahaha.

lars is... sitting up, eating solid food and LOVING it, very chatty, drooling, and weighting over 17 lbs these days. 

Sunday, December 23, 2012

Tuesday, December 11, 2012

The BFG.

The 4 month well check appt. with Dr. Ralston confirmed that Lars is HUGE for his age.  He is above the 95th percentile in length and 80th for weight.  He's our big friendly giant.  For months we have wondered if he would have eating habits similar to his brother.  Thankfully, Lars loves rice cereal and ***applesauce***.  We feel like first time parents again since we never had the "typical" baby eating experience with Sam.  We find watching children eat fascinating.  This is really fun.

Sunday, November 25, 2012

Lars's Diagnosis

The math was simple.  We knew if we tried for another child, we had a 25% chance that the baby would have cystinosis.  But there was a 75% chance the child wouldn’t have cystinosis!  We wanted our three-year-old, Sam, who has cystinosis, to have a brother or a sister.   Seeing how strong and happy Sam is, we rolled the dice.

Lars Andrew Jenkins was born on July 30, 2012, 6 days after Sam’s birthday and just a day shy of our fourth anniversary.  He was a hefty 8 pounds 1 oz and 20 inches long.  He was beautiful, with a nice round head and a slightly smooshed nose.  But that blond hair – that was a little concerning.  Sam had that same head of blond hair. 

We were ready though.  We coughed up the 350 bucks to do the genetic test for the 57kb mutation, the most common cystinosis mutation.   Sure, it wasn’t a definitive test since we didn’t know Sam’s mutation, and it’s not even incredibly accurate.  But our nephrologist wanted to wait till Lars was about 4 weeks old to draw blood for the WBC cystine test, and we thought we’d burst if we had to wait that long for some kind of answer.  We just wanted to buy ourselves some time.

We got the results back when Lars was about a week old.  He tested negative for the 57kb mutation.  We were pretty relieved.  We didn’t start broadcasting the good news, however, because we knew there was still a small but significant chance Lars had cystinosis.  But we breathed a little easier.

Lars was a good baby and a healthy eater from the start.  From all appearances he was a normal newborn.  He was gaining weight.  He took decent naps.  But by the second and third weeks that all started to change.  He started wanting to eat more often.  He was colicky and hard to console.  He started sleeping less.  He was acting a whole lot like Sam as a baby.

At 3 weeks we couldn’t wait any longer and we got the blood drawn for the WBC cystine test.  We waited an agonizing 8 days for the definitive answer.  The results came on a Tuesday, 4 weeks and 1 day after Lars was born.  He tested positive for cystinosis.
We hoped and prayed for Lars to be healthy.   We also prayed that we would have energy and optimism if God had a different plan for our family.   We’d never have imagined 4 years ago when we got married that we would one day have two children with a rare disease.  Although it’s not the future we had planned on, we feel incredibly grateful to be the parents of two special boys who mean the world to us.
We were able to start Lars on Cystagon immediately.  He tolerates it surprisingly well, and despite the grimaces he makes when we squirt the malodorous mixture in his mouth, sometimes he gives us a smile, as if to say, “Thanks, Mom!”  As soon as we started the drug he started nursing at more normal intervals and sleeping a little longer.  We don’t know if the drug is just killing his appetite or sedating him, but it has been a welcome change!  We’re hopeful that the FDA will approve RP103 early next year, when Lars will be moving on to solid foods.  Hopefully he’ll like applesauce!  He’s also on the mandatory proton-pump inhibitor, as well as some vitamin D supplement.  We’re hoping that since he was diagnosed so early we will be able to avoid the kidney damage that Sam had already sustained at diagnosis.   Our nephrologist told us to feed Lars whenever he wants, and he is certainly putting on the pounds.  At 8 weeks old he was nearly 14 pounds.  Sam was still 14 pounds at one year.  We don’t plan on losing any ground.
Sam loves having a baby brother.  He is so sweet with Lars and constantly tells us how “koot” Lars is.  He refers to him as “Baby Larziroo,” and wants to be at his side all the time.   After Lars’s first dose of Cystagon, Sam hugged him and said, “Good job, Baby Lars!  You took your medicine!”  Lars doesn’t even mind when Sam pokes and prods him or plays a little rough.  Lars even smiles during such behavior.  You can tell these two are going to be best friends.
Sam is doing very well on RP103.  He throws up much less often and has boundless energy.  He can come across as timid and serious when you first meet him, but he doesn’t have to be around other children for long before he becomes the loudest and most mischievous.  He is a truly happy kid.  He loves to make up jokes and laughs hysterically after telling each one.  He likes to imagine there are trolls under every bridge, or that he is Simba from Lion King, and there are always “bad guys to fight off” wherever we play.  We love to go on family hikes and Sam won’t let us take resting breaks because he’s too excited to get to the top.   He has become adept at building with duplos, assembling train tracks and racing Hot Wheels.  He’s learning his alphabet and numbers, too.   He loves flying on airplanes and going to Stanford every 3 months for the RP103 trial. 
The future for our children is bright!  We have so much hope for a cure.  Our two sons will lead wonderful lives and have such a positive influence on those around them.  Their sweet young spirits have already added so much joy to our family.

Check out our first fundraiser for Sam’s Hope For a Cure.  We have been overwhelmed by the generosity, kindness and support of our friends and family.   We have raised almost $8,000 so far.  We will be giving all the donations to the Cystinosis Research Foundation to further the research and development of new and improved treatments and eventually a cure for cystinosis.   

Wednesday, November 21, 2012

Pirate Treasure, Yo!

Eight reasons to be grateful for Jake and the Neverland Pirates

1) I have nine pirate books on hold at the library.
 2) Bath time is much more fun with pirate boats.
3) We make pirate soup EVERY day (Sam has been eating a lot better)
4) We're teaching Sam how to read maps.  Aye, treasure maps!
 5) I've been telling pirate stories from 7am to 7 pm.
6) Now we know exactly what Sam wants for Christmas.
7) We have another batch of songs to dance to.
 8) We're starting a new chapter book.  Peter Pan.

Monday, November 19, 2012

Cure Cystinosis International Registry

Sam and Lars have excellent doctors here in Utah but even they can't answer all of our questions.  The disease is so rare that sometimes it's hard to find a doctor who has ever seen a patient with the disease.  Our nephrologist is currently treating four kids with cystinosis... basically every kid in Utah with the disease.  If I'm wrong, call me.  We feel incredibly blessed to have the doctors we have. 

     This a greatGreatGREATgreat place to find information about cystinosis.  Their goal is to register 400 people with cystinosis by the end of 2012!  That said, go register now! The information is used to help researchers find out more about cystinosis and how they can help.  I have had many questions answered from this site.  For instance...

At what age do most patients start cysteamine treatment?
Is it okay to make up cystagon in advance and store it in your fridge?
Are males with cystinosis sterile? 
What else should I take into consideration before starting Sam on growth hormone shots?
Do most kids with cystinosis really have blond hair and blue eyes?
What current drug trials are out there?

I just updated the info. for both boys and it took less than 30 min.  Yippee!!

Thursday, November 8, 2012

Lars Overload & Test Results

Lars's cystine test results are back from UCSD.  Anything under 1.0 is good so we were happy to hear that his cystine level is 0.55.  We were thinking his cystagon dosage would need to be increased due to his rapid growth but it looks like it's working just fine.  He tolerates the drug much better than Sam ever did.  Although a couple of days ago, I did have to give it to him three times within thirty minutes because he kept spitting it up.  This was a reoccurring pattern with Sam when he was on cystagon.  I'm so grateful Sam can be on RP103.

Lars slept from 9 pm to 7 am last night.  He slept right through the 3 am cystagon dosage.  Tioooonkk! 

Tuesday, November 6, 2012

I voted for PINK!

Sam and Lars went along with me to vote today.  Right before I voted Sam looked at me and asked, "Mom, you voting for pink?"  Totally.

Tuesday, October 23, 2012

This is Halloween

 Decorating for the holidays is much more fun with kids.  Sam was bursting with excitement and bossiness this year.  We made monsters for our windows, which he was really happy about until he saw that I gave the monster three eyes.  After the meltdown he was able to communicate to me that he really wanted the monster to have only one eye... so we made two monsters with one eye each.  Next, Sam requested ghosts for our front porch.  Halloween decorating has never been more fun... or exhausting ;)

For those of you who are interested, this monster is named Jason.

Sam likes keeping the blinds shut.  Everytime we enter the living room he screams, "Ahhhhh Monsters!!"

The Halloween village that I saved from the dumpster.

 I replaced all of our square framed photos with pictures from Edward Gorey's The Gashlycrumb Tinies: A Very Gorey Alphabet Book.  You'll like it if you have a twisted sense of humor.

Our monsters cast spooky shadows everywhere.

If you're in the hood, come trick-or-treat at our place... unless you're too scared Brewhahahahahahahah!!!!!

Friday, October 19, 2012

Halloween Happenings

Pumpkin Decorating

Cookie eating

Donuts on a string - ing

 Craft making

Story telling