Cystinosis Research Foundation 2014 Day of Hope

Sam and Henry

We just returned last night from the CRF Day of Hope family conference in Newport Beach, California.  This was our second time as a whole family, and it is the highlight of the year, even bigger than Christmas!  Nancy and Geoff Stack go all out to make the families feel welcome, comfortable, educated, and, most importantly, full of hope that life for people with cystinosis will get better and better.  There were 40 families that attended this year, and it was like going to a big family reunion.

We chose to drive again because it's just easier for us to deal with screaming children in our own car than on a crowded airplane.  It's also nice to have constant access to snacks (Lars's favorite word) and have room to bring blankets and sleeping pads and basically anything else we feel like cramming in our car.  The boys made sure to bring their new stuffed animal dogs they got from Ashton's grandma, Jackie.

The conference kicked off with dinner at the Balboa Bay Resort.  It's a fantastic evening where we see old friends and meet new ones while our children run wild (despite parental instructions).  It's amazing to watch the kids together.  Sam reconnected with Henry Sturgis immediately, and also had fun playing with Jackson Blum and Andrew Cunningham and chasing Tina Flerchinger.  We were all pretty worn out that night from traveling, and went to bed right after medicine time.

Sam and his buddies Henry Sturgis, Andrew Cunningham and Jackson Blum.

Friday morning we had breakfast and then dropped the kids off with the babysitters.  This is one of the things we love the most.  Lars was in heaven with the huge snack table and unlimited opportunities to scribble with markers.  Sam loved playing with all his buddies and seeing Spiderman. 

The conference started with all the families circling up, and we each got to get up and share what our wishes are for our loved ones with cystinosis.  Ashton wished that Sam would be able to fulfill all his dreams, and that Lars would never need a kidney transplant.  I wished that they would both have long and happy lives.  Sam wished that Lars would become a Greek soldier, and wished for himself to become a spy.  We put our wishes on paper cutouts shaped like flowers and put them all up on a large tree representing our cystinosis family.  It was really a beautiful symbol.  The best moment of the morning was when Kevin Partington lifted up his sleeve to show off the prototype patch that Ghanashyam Acharya has been working on for the last year as a better way to deliver cysteamine.  Ashton and I both started crying when we saw that.  There were a lot of tears shed in general that morning. 

The rest of Friday we went to talks by the different researchers and physicians in the cystinosis community.  Dr. Grimm gave a fantastic lecture on living with Fanconi syndrome, and Dr. Mak got everyone excited about the potential benefits of Vitamin D on muscle wasting.  Dr. Dohil described the research related to GI issues in cystinosis, including the development of Proscysbi.  Dr. Sergio Catz talked about a novel mechanism for improving removal of cystine from lysosomes, which involves trafficking by a protein called Rab27.  He's looking for an existing drug that would induce Rab expression, forcing lysosomes to fuse with the cell membrane and dump their contents.  It sounds like a pretty cool adjunctive therapy to enhance the effects of cysteamine.

Dr. Cherqui gave us an update on her progress with the autologous stem cell transplant project, and said she hopes to have a clinical trial in 2-3 years.  Dr. Jennifer Simpson and Dr. Ghanashyam Acharya gave updates on their nanowafer delivery system for corneal cystinosis, which should be in a clinical trial soon.  Then Dr. Acharya spent just a few minutes talking about the development of the patch, which is very exciting.  All of these talks were followed by a question and answer session with the physicians and researchers, and then a brainstorming session for parents to discuss solutions to common problems like eating, bedwetting, etc.

Spiderman and Cinderella came to visit.  Sam was probably more interested in Cinderella.

Friday night was definitely Sam's favorite.  We ate dinner on the private lawn/beach of the Balboa Bay Resort.  Sam brought shovels and buckets and spent most of the evening digging and getting drenched.  We finally had to drag him away from the water and change his entire outfit because he was completely soaked.  There was cotton candy for the kids on plastic light-up sticks, which was a huge hit.  The Stack's think of everything!  Sam wielded his stick like a lightsaber, and instigated a war with the girls on the beach.  He said Gabbie Strauss was the captain of the girls.  It was pretty epic.  We also sang happy birthday to Mack Maxwell, who turned 50 years old that night!

Saturday we resumed meetings and heard from Dr. Grimm again about kidney transplants, which was a very helpful and educational talk.  Who knew that cats were so dangerous for transplant patients?!  It's a good thing we're a dog family.   And it turns out cystinosis patients keep their transplants longer, probably because of the anti-scarring properties of cysteamine use.  We also heard from Dr. Doris Trauner on neurologic issues in cystinosis, and Dr. Angela Ballantyne, who talked about practical ways of dealing with neurologic, behavioral and educational issues, as well as quality of life.

Then we heard from the real giants, the adult/teen panel.  Bailey, Joe, Jennifer, Shannon Keizer, Natalie, Tom, Mack, Bryan and Shannon Paju all shared inspiring insights about growing up, going to school, working, and living with cystinosis.  Some of the most interesting confessions surrounded medication compliance, which underscores the importance of better drugs like Procysbi to improve medical adherence.  We ended the session with another family discussion where people shared the challenges and silver linings of their journeys with cystinosis.  There was a lot more happy crying and hope.  We started talking about the "Power of Awesome," when Erin Little surprised Nancy Stack with a beautiful quilt of the Day of Hope Tree, with pieces of fabric sent in by families from around the world.  That was pretty cool.

Saturday night was the big Natalie's Wish event, which is always incredible.  We got to present our check from Sam's Hope for a Cure, which included money raised in 2012 with our first letter campaign fundraiser, as well as the money raised in 2013 by Mary Ann Franson with her garage sale, totaling $15,560.  We were so impressed by how much other families, like the Sturgis, Flerchinger, Cunningham and Partington families brought in -- over $600,000 combined!  We had an excellent dinner and got to sit with the Smethhurst family from Logan and the Head family from the Seattle area.  A big highlight was seeing the new 2014 movie, which featured Hadley Alexander and her family.  We were surprised and delighted to see some clips of Sam and Lars in the video as well (even if it included a traumatic blood draw!)  Altogether the event raised almost $2.3 million for cystinosis research, and thanks to the generosity of the Stack family, every single dollar will go to research.

It was hard to leave.  That night Sam said, "I want to go to the babysitters tomorrow so I can play with my friends.  I don't want to go home."  We spent the 11 hour drive home yesterday brainstorming on ways we can raise more money and help the cystinosis community.  We are definitely counting down the days until next year.         

just some pics from the Stack's fundraiser

 

noice.

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.

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.   

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. 

Cure Cystinosis International Research (click here)

     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!!

    

Sam's Hope For A Cure