Wednesday, April 9, 2014

Ghanshyam and the Magical Cysteamine Patch

The most exciting surprise at the Cystinosis Research Foundation family conference this past weekend was when Kevin Partington pulled up his sleeve to reveal a patch on his arm.  He wasn't quitting smoking or going through menopause.  The patch was a novel cysteamine delivery system developed by Dr. Ghanashyam Acharya. 

Dr. Acharya was introduced to the cystinosis community at the 2013 conference, and he made quite a splash with his energy, enthusiasm and unbridled optimism.  He was recruited to the fold by Dr. Jennifer Simpson to develop a better way to treat corneal cystinosis.  Together they came up with a nanowafer that is placed on the surface of the eye like a contact lens, which releases cysteamine gradually for a day, and maybe up to a week at a time.  Currently the only treatment for corneal cystinosis is Cystaran eye drops, which must be applied every waking hour to eliminate corneal crystals.   Dr. Simpson has since used confocal microscopy and a mouse model of cystinosis to show that the wafer is much more effective at reducing corneal crystals than eye drops.  Hopefully we'll have a clinical trial in the near future!

Something else Dr. Acharya talked about at that 2013 conference was his previous experience using nanotechnology and microparticles to create longer acting drug formulations of felodipine, risperidone, progesterone, and paclitaxel.  The new formulation of the antipsychotic risperidone can be given as an injection at 6 week intervals, which has obvious benefits for people with schizophrenia and problems with medication compliance.  My mind started racing as I imagined what a long acting version of cysteamine could mean for patients with cystinosis.  We love Procysbi, which is every 12 hours, but I still worry about the fluctuations in Sam's cystine levels.  I was picturing something like a depot shot, given maybe once a week, or even once a day.  I talked with other families that morning who had come to the same conclusion.  I was so excited about the idea that I submitted a question on an index card at the Q&A physician panel, addressed to Dr. Acharya, to see whether he believed it were possible to create a depot shot for cysteamine.  His response was simple and confident.  "Yes, I can do that."

But there were naysayers on the panel, and their reasoning made sense.  They said things like, "The amount of medication you need to deliver would make it impossible.  We're talking about grams of cysteamine!"  I think a lot of people felt deflated by these remarks, including myself.  But Ghanshyam insisted he thought it could be done.  The gauntlet had been thrown down, and the wheels in Ghanshyam's head started moving.

Fast-forward one year to the 2014 Day of Hope Conference.  Ghanshyam brought a prototype patch with him, and after his talk updating us on the cysteamine nanowafer for the eyes, he gave us the quick run-down on how he developed it.  He said he went back to Baylor after the conference and rounded up his four post-docs, put their other research on hold, and brainstormed for a solution.  The main problem was the amount of drug to be delivered.  Most skin patches, like fentanyl, estrogen and nicotine patches have very small amounts of drug (like micrograms), and this allows the drug to passively diffuse through the skin and into the bloodstream.  A cysteamine patch would require an active pumping mechanism, and something like this has never been done before.

The physics was way over my head, but basically Ghanshyam invented a completely new model with multiple layers that are able to convert the mechanical energy of body movement into electrical energy that could pump the cysteamine into the skin.  He calls it something like a quantum kinetic transdermal patch.  He thinks he can get 500 mg, or half a gram, of cysteamine into the patch, and his goal would be to have it last 3 days.  The advantages of the patch are obvious.  Medication compliance would go to 100%, and the peaks and troughs associated with every 6 hour dosing would be flattened into a continuous basal rate of drug delivery.  This would likely mean that less cysteamine would be needed per patient, and side effects would probably be minimal.  The patch may also solve the problem that Dr. Dohill has pointed out, where he found that 2 hours after drug ingestion, cysteamine cannot be detected in tissue.  The patch could mean stable cysteamine levels all the time, with better predictability of cystine levels in cells.

I was able to talk with Ghanshyam on Friday night at the dinner, and he told me how he loved to solve seemingly impossible problems.  He said you can never take no for an answer.  He told me he used to work at NASA, and there he learned the motto "failure is not an option."  He said he's not in this business for the money.  He just wants to find solutions, and to make life better for children and adults with cystinosis.  I propose we clone one hundred more Ghanshyams.

On Saturday when families were sharing the challenges and silver linings of living with cystinosis, Ghanshyam's wife took the microphone for a moment.  They were just married in the last year.  She said that right after they were married, Ghanshyam would wake up at 2 o'clock in the morning and tell her he needed to go to the lab.  She said she thought he was crazy, but she said that after coming to the Day of Hope conference and meeting the cystinosis families, she understands why he works tirelessly and with such urgency.  She said she would never question his late night lab antics again, to much applause and laughter.    

Ashton and I joked at the conference that if we ever had another son, we were going to name him Ghanshyam.  At the time it was an easy declaration to make, because after having a second child diagnosed with cystinosis, we have felt like we are probably done having kids.  But with the patch and a possible cure in the pipeline, taking another roll at the dice might be in the future.   

Tuesday, April 8, 2014

2014 Cystinosis Research Foundation Movie

Check out this awesome movie from the CRF.  It talks about the newest research and treatment goals, and features Samuel and Lars!

Monday, April 7, 2014

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.         

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.