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.