Tuesday, November 25, 2014

Kidney Biopsy

At Sam's last nephrology appointment, everything was looking great.  His height and weight had moved up percentiles into the 40s.  His electrolyte levels were stable.  His albumin was a little low, but still in the "normal" range.  It had been low a few months ago too.  Our nephrologist ordered a urine test, and this showed protein in the urine.  A LOT of protein.  This took us completely by surprise.

We checked a first morning urine again, hoping it was a fluke.  The massive proteinuria persisted.  We waited almost two weeks to hear back from our nephrologist.  In the mean time, we panicked.  What did this mean?

Cystinosis is a disease of the kidney tubules, which normally reabsorb electrolytes, glucose and small proteins from filtered urine.  It is normal in cystinosis to have leakage of small proteins, but these proteins aren't even detected by normal urine dipsticks.  Sam is losing albumin in his urine, which suggests that the glomeruli are damaged.  The glomerulus is the part of the kidney that filters blood to make urine.  The glomerulus can be damaged by a lot of things.  The most common diseases in kids are minimal change disease and glomerulonephritis.  Other causes include autoimmune diseases, like lupus.  

We hadn't heard of other kids with cystinosis having nephrotic range proteinuria before.  We knew that proteinuria occurred with end stage kidney disease, before transplant time.  Usually the proteinuria is more gradual, however.  Did this mean Sam was going to need a transplant sooner?

It's possible that Sam has something completely unrelated to cystinosis causing the proteinuria.  But it's also possible that the cystine crystals have damaged the glomeruli too.  But why would this happen?  We never miss a dose of Sam's medications.  We are neurotic about that.  We do have some concerns about Procysbi's efficacy compared to Cystagon because Sam did have a really high cystine level several months back.  The effect of Procysbi seems to be more unpredictable depending on what you eat and how strictly you follow rules about eating before and after.

We talked to Dr. Grimm about it via e-mail, and he said that it's possible Sam had sustained enough damage to his kidneys when he was a baby, prior to diagnosis, that now as he grows bigger his remaining functioning nephrons can't compensate.  He may actually be showing signs of "hyperfiltration injury."  He said that sometimes no matter how strict you are with giving medicines on time, the disease just progresses.  It seemed to us that if the cystinosis is progressing, however, then Sam wouldn't be growing so well, and his other electrolytes, like potassium and bicarbonate, would be dropping too.

We heard back from our nephrologist, Dr. Nelson, and discussed the options.  He was baffled by the degree of proteinuria as well, and thought the best thing to figure out what is going on was to get a kidney biopsy.  This meant a short stay in the hospital.  We prepped Sam for it a couple weeks out by telling him he got to have a sleepover at the hospital.  A week before the biopsy he packed a suitcase with pajamas, underwear and movies.

On Friday morning Sam walked in wearing his ninja costume, carrying his suitcase and his stuffed dog, Piratesbandofmisfits (Pirates for short).  First he had to get labs and an IV.  Since he needed to have an empty stomach for the procedure, we had to hydrate him for a few hours before because he drinks a lot of water.  He was pretty nervous about the IV, but once it was in, it didn't seem to bother him.  Ashton's mom watched Lars all day, which was really wonderful so we could both be with Sam.  Around noon Sam was brought back to ultrasound, where he got some versed and ketamine.  Dr. Nelson performed the biopsy and took 4 small core samples.  Usually they do 3, but he wanted to prepare one extra sample to look for cystine crystals in the glomeruli.

The procedure went smoothly without complications.  Sam was taken to the RTU observation unit where he had to lie flat on his back for 6 hours.  We surprised him with a new stuffed animal, a big golden retriever from Ikea that he had been wanting for months.   When Sam saw the new dog he was still waking up from the anesthesia, so he was a little giddy and confused.  "Wait, wait, wait, wait," he repeated with disbelief.  "When did you buy that??"  He named the dog Ivy, after his IV, and then Ivy Scooby-Doo, and eventually he shortened it to just Scooby-Doo.  

Sam spent the rest of the day watching a Scooby-Doo marathon and ordering food from the room service.  He ate an entire personal pizza and serving of french fries for lunch, and a corn dog and fries for dinner.  So healthy.  We had to collect all of his urine to monitor it for significant bleeding.  It started out pretty yellow but by night time it was strawberry colored.  He had some soreness at the biopsy site which got better with tylenol.  He did great overnight and was discharged the next morning.  He was jumping on his hospital bed before he left.  Dr. Nelson told him to avoid rough housing, wrestling and even recess for the next 10 days to make sure he doesn't develop any bleeding at the biopsy site.

So now it's just a waiting game for the pathology results. We are really hoping they find something else on the biopsy, like minimal change disease, that we could just treat with steroids for a while.  If all they see is glomerulosclerosis, or scarring of the glomeruli, then we'll have to accept that it's the cystinosis causing more kidney damage.  The only treatment for that is an ACE inhibitor like enalapril to reduce filtration through the glomeruli, which also decreases how much protein leaks out.

Thanks to everyone who visited, sent messages of support and asked how Sam is doing.  We are fortunate to have such a great community of friends and family.  Now please put your blood types in the comments.       

Wednesday, November 19, 2014

Our friend, Macey

 She is just so darn cute.

Dress Up

First, he told me to get the dress ups.  Then, in his bossy voice, he told me to get the camera.  I started snapping photos and he said, "give me candy corn".

Halloween was this good

hedgehog, batman, monster, phantom of the opera, ninja

Thursday, October 16, 2014

Dr. Cherqui and the Amazing Lysosome-Swapping Macrophage!

Dr. Stephanie Cherqui has previously shown that if you transplant hematopoietic stem cells (HSCs) into cystinosis mice, you get stem cell engraftment with reduction in cystine in the tissues and preservation of organ function.  She is currently working on safety studies so that we can move forward with human trials with autologous HSC transplant for patients with cystinosis. 

But how do the stem cells actually fix the cystinosis cells?  Dr. Cherqui and her lab recently published a paper in Stem Cells revealing the mechanism.  Several hypotheses had been suggested.  Do the stem cells turn into new kidney cells, or do they fuse with the diseased cells to create a functioning hybrid?  It turns out it’s neither.

First you have to remember that cystinosis is a disease of the lysosome.  The lysosome is like the recycling plant of the cell.  It takes up old proteins, digests them into amino acid building blocks, and spits them out through transporter pumps to be reused.  

Cystinosin is the transporter that pumps out cystine, and if it is broken, like it is in cystinosis, then the cystine can’t get out of the lysosome. Cystine builds up, damaging the lysosome and the cell. Cystinosin is probably involved in a lot of other cellular functions too, which explains why giving people cysteamine doesn’t cure cystinosis.  You can’t just get rid of cystine; you have to replace the Cystinosin transporter somehow.

Dr. Cherqui showed that most of the stem cells turn into macrophages after transplantation.  Macrophages are a type of immune cell, and their name literally means “big eater.” Macrophages like to munch on bacteria, and they also clean up the big mess made by the other immune cells that are fighting viruses and bacteria.  Since the macrophage is designed to clean up, it has lots of LYSOSOMES!   


Dr. Cherqui’s latest research shows that these helpful macrophages respond to a distress call from the sick cystinosis cells by creating little tubes, called tunneling nanotubules (TNTs), through which they share lysosomes with the sick cells.  Healthy lysosomes with the Cystinosin transporter move into the cystinosis cells, and the sick lysosomes move out of the cystinosis cells and into the macrophages.  It’s almost like a lysosome transplant!

In the movie below, posted with Dr. Cherqui's paper in Stem Cells, you can actually see the lysosomes (the little green dots) leaving the macrophage through the tunneling nanotubules to the cystinosis cells, which are red.  So cool! 

This research could have big implications for other diseases.  Cystinosis is just one of fifty lysosome disorders.  Other lysosome disorders include Tay-Sachs disease, Fabry disease, Niemann-Pick disease, Gaucher disease and metachromatic leukodystrophy.  What if HSC transplantation could swap out the broken lysosomes in these diseases?  It's also interesting to note that lysosomes aren't the only organelles that move across the tunneling nanotubules.  Dr. Cherqui and other researchers have also noted mitochondria making the trek.  Mitochondria are the "powerhouse" of the cell, where most of the energy required for cellular function is generated.  There are many mitochondrial disorders, and it is possible that HSC transplantation could be used to treat these as well.  The cure for cystinosis could be the cure for a whole host of genetic diseases!   

Thursday, October 9, 2014

How to Cure Cystinosis

I still remember in 2011 when Ashton came home from the Cystinosis Research Foundation Day of Hope conference and told me there was a scientist who had cured cystinosis in a mouse model with hematopoietic stem cell transplant.  Hematopoietic stem cells, or HSCs, are the stem cells in the bone marrow that develop into blood cells, including the red cells that carry oxygen, and the white cells that make up our immune system.  I had just finished my hematology block in medical school, and what Ashton was telling me sounded preposterous.  Bone marrow transplants are definitely effective for certain blood diseases like multiple myeloma and immunodeficiencies, but it didn’t make any sense that stem cells destined to become blood cells could repair damaged kidney, liver, muscle and thyroid tissue.  Boy, was I wrong!

Dr. Stephanie Cherqui.  Photo from Cystinosis Research Foundation.

In 2009 Dr. Stephanie Cherqui showed that if you give a cystinosis mouse a bone marrow transplant, it leads to reduction of cystine in all organs, including the cornea, and preservation of kidney function.  She showed the same thing in cystinosis mice who received a HSC transplant.  The effect was still present 15 months after the transplant.  This paved the way for FDA approval for a bone marrow transplant trial for cystinosis, which is still waiting to enroll its first patient.

The idea of curing a genetic disease like cystinosis with an allogeneic bone marrow or HSC transplant is pretty exciting.  But bone marrow transplants are not risk-free.   The biggest complication is graft-vs-host disease, where the transplanted bone marrow cells actually attack the recipient, leading to severe skin, liver and gastrointestinal disease.  You also have to kill the patient's bone marrow before transplant with chemotherapy, putting the patient at high risk for infection.  Thankfully Dr. Cherqui has found a way around this.

Rather than give the person with cystinosis someone else's hematopoietic stem cells, why not take some blood from the cystinosis patient and genetically modify the stem cells to express the correct Cystinosin genes, and then give them back as an autologous transplant?  This way you already have a perfect match.  You basically eliminate the risk of graft-vs-host disease, and you don't have to use the same intensity of chemo to suppress the bone marrow prior to transplant.  Sounds pretty great, huh?

In 2013, Dr. Cherqui published research showing she had found a way to deliver the correct Cystinosin gene to stem cells with a virus, specifically a lentivirus.  The virus goes into the cell and copies its DNA, including the correct Cystinosin gene, into the stem cell's DNA.  The stem cells were then transplanted back into the mice from which they were taken, and these cystinosis mice had the same reduction in cystine and organ preservation as the mice that got allogeneic HSC transplantation.  

With these amazing results, Dr. Cherqui has now moved toward clinical trials in humans, and is currently working on safety studies for the FDA.  Hopefully in the next few years there will be a trial for autologous HSC transplant in actual patients.  All of this is possible because of the Cystinosis Research Foundation, who has funded Dr. Cherqui's research.  We are so grateful for Dr. Cherqui's tireless dedication. I won't be surprised when she wins the Nobel prize. The cure is coming!

Thursday, May 22, 2014

Auction Items for May 31!

We are so excited for our big event on May 31st!  It will be at Lindsey Gardens in the Avenues, 426 N M Street in Salt Lake City from 5 - 8 PM.  We will have Italian cream sodas from Dunford Sweet Cream Soda Pop and a silent auction with great items from the community.  The event is kid friendly, so no need to get a babysitter!  It's at a park!  Please be prepared to pay with CASH or CHECKS.

With your help we will find a cure for cystinosis!  If you are unable to attend and would still like to support Sam's Hope for a Cure, please go to samshopeforacure.org to make a donation.

Here is a list of auction items for the fundraiser.  We'll update it as we get closer to May 31!

8 tickets to Hale Centre Theatre's play, "She Loves Me."
2 tickets to Pioneer Theatre Company's play, "One Man, Two Guvnors."
4 tickets to Step Afrika, donated by Kingsbury Hall
10 tickets to Children of Eden at Legacy Theater, donated by Mary Walter and friends
Megaplex Theatres gift basket worth $50
9 movie tickets from Cinemark Theatres
4 tickets to Salt Lake Bees game
4 passes to Utah's Hogle Zoo
Day at the Museum package from Natural History Museum of Utah, worth $60
Family pass to Discovery Gateway Children's Museum
12 passes to Jump Around Utah (each pass good for two admissions)
4 passes to Momentum climbing gym
12 pc hand-dipped chocolates from Hatch Family Chocolates
$50 gift card to Simply Thai
$50 gift card to Indochine Vietnamese Bistro
$50 gift card to Cheesecake Factory
$40 gift cards to Tucanos
$50 gift card to Tony Burger, donated by Mary Walter
Cookies and gift cards from RubySnap
2 gift baskets from Great Harvest
$50 gift card from Hip & Humble
$40 gift card to Plates and Palates
$100 gift card from Avenues Yoga
$50 gift card from Apt. 202
$100 gift card to Canvas-on-Demand
4 $50 gift cards donated by Tiny Prints
$50 gift card to DownEast Outfitters
$100 gift card to Maverik gas station, including mug and hat
$100 gift card to Harmons
12 pairs of Stance socks (6 male, 6 female)
2 Family baskets from Apple Beer, including 2 Pilsner glasses and two packs of Apple Beer
Painting by Paige Anderson
Photograph by Alpha Smoot
Framed painting by Missy Wallace
Paintings by Sandra Rast
Art by Mary Stanley 
Wreath by Carrie Clement
Adobe Lightroom software, donated by Megan Griffin
String of pearls donated by Tom Obray
Pearl and crystal necklace donated by Lisa Kurtz
2 men's rings (more info to come)
Rudy Project cycling helmet
6 hours of interior design consulting by Marilyn Hymas
Residential landscape design donated by Terrall Budge (Loci)
Assorted Redken hair products donated by Mary Mecham
Trish McEvoy cosmetic basket 
3 Dental Hygiene baskets, total value of $275, donated by Kim Holmes
Girls hair bows donated by My Little Lovely Bug 
4th of July hair bows donated by My Lil' Bow Shoppe
2 Hand-knit baby boy hats (3-6 months and 6-12 months) from Bonnie Romney
7 Hand-knit Christmas stockings donated by Leanne Holt
3 hand-made girl's dresses donated by Meg Morley 
3 hand-knit baby blankets donated by Rachel Rushforth
50 Custom baby announcements from studioyou, donated by Erin Wilson
Quilt donated by Mary Walter
2 quilts donated by Diane Alexander
Quilt donated by Lauren Thomas
Baby blanket donated by Leesa Scott
Baby blanket donated by Anna Bennion
2 receiving blankets donated by Stephanie Ransom
2 twin-sized quilts donated by Emily Shaw
1 baby-sized quilt donated by Kathy Shaw 
King-sized quilt donated by Mary Ann Franson
5 lap blankets donated by Lori Willis 
2 baby blankets donated by Melanie Boles
3 framed prints donated by Kristen Larrabee and Stephanie Ransom
Picnic basket donated by Janette Thompson
Throw pillows donated by Meghan Ung
Cakes donated by Allyson Jones
Cake bites donated by Sarah Jenkins
Cake donated by Seretta Hart
Caramels donated by Anna Bennion
Cookies from Cynthia Fuessel, Ashton, Whitney Wilkins
Brownies from Leslie Jenkins
Garden planter box from Rebecca Tiddlefitz
Amazing Spiderman basket including two movie tickets, mask, water bottle
Dr. Seuss basket from Leslie Jenkins
A basket of Sam's favorites
A basket of Lars's favorites
Baking gift basket donated by Leesa Scott
Children's camping set, including tent and toy camping supplies
2 baby product baskets donated by Dee Jones
Dinosaur Excavation kit
Little Girl Bake Set from Leslie Jenkins
Rainy Day Puzzle Gift basket


Wednesday, May 21, 2014

the year 2014 so far

Here is a little movie mashup of some of the highlights from the last few months. 

Wednesday, April 30, 2014

THANK YOU to... Hip & Humble

Dear Friends and Family, 
The upcoming silent auction for Sam's Hope for a Cure is going to be AWESOME because Hip & Humble just donated a $50 gift card!  My mother-in-law, Leslie, introduced me to Hip & Humble shortly after Stephen and I were married.  I LOVE IT!  I feel creatively inspired every time I enter the store.  The cute alphabet cards from Sam and Lars' room are from here.  Check out their stores.

Salt Lake City, Utah

1043 East 900 South

Bountiful, Utah

559 West 2600 South

Sandy, Utah

676 East Union Square (9400 South)

We're on Apartment Therapy! Check it out.


Wednesday, April 23, 2014

Vitamin D and Muscle Wasting

Dr. Robert Mak, a pediatric nephrologist, gave a talk at the 2014 CRF family conference about the effects of Vitamin D on muscle wasting in cystinosis.  His talk generated a lot of excitement and interest, so I thought it would be worthwhile to break it down here.

Muscle wasting is one of the major complications of cystinosis, and it is typically seen later in life, in the second and third decade.  Cystine accumulation damages muscle cells.  The muscles predominantly affected are swallowing and limb muscles.  Many patients with cystinosis have trouble swallowing, especially as they get older, and the deterioration of these muscles can lead to aspiration of food and saliva into the lungs, which can cause serious complications, even death.  Wasting of the limb muscles can cause weakness in grip strength and affect dexterity, as well as exercise endurance.

Currently, there are no great therapies for muscle wasting.  Cysteamine depletes the cystine in the muscle tissue, but even patients taking cysteamine eventually develop muscle wasting.  Many cystinosis patients take carnitine supplements since this compound is wasted in the urine.  Carnitine is required for muscles to break down fat into energy, and carnitine deficiency leads to accumulation of fat in muscle tissue.  Giving patients carnitine supplements will normalize blood and muscle levels of carnitine, and it reduces accumulation of fat in muscle tissue, but no studies have been done to assess whether carnitine replacement results in higher muscle mass or better growth in the long term.   Dr. Doris Trauner, a neurologist, mentioned in her remarks at the CRF conference that other proposed treatments for muscle wasting include coenzyme Q and the different B vitamins. 

Dr. Mak has been studying the effect of vitamin D on muscle wasting using a mouse model for cystinosis.  In the mouse model, the gene that codes for the cystinosin protein has been "knocked out," so the mouse no longer makes the protein.  This effectively creates a mouse with cystinosis, and it is a good surrogate for testing different therapies, like vitamin D. 

Normally we make vitamin D in our skin, with exposure to sunlight.  We can also get vitamin D from fortified foods, or from supplements.  If the supplement is from a plant, it's called ergocalciferol, or D2.  If it's from animals or our skin, it is called cholecalciferol, or D3.  Whether we make it in our skin or eat a supplement, the vitamin D is modified by the liver to make 25-Vitamin D.  This form of vitamin D is then modified again by the kidneys, to 1,25-Vitamin D, which is the active form.  This form is also called calcitriol, and it is required to maintain calcium and phosphate levels in the blood and promote bone growth and remodeling.  1,25-Vitamin D increases absorption of calcium and phosphate in the intestines, both of which are needed for bone mineralization.  Patients with renal failure often have to take calcitriol because their kidneys can't make the active form anymore.

Dr. Mak pointed out three reasons cystinosis patients have low vitamin D: they lose it in their urine, they spend less time outside in the sun because of photophobia, and they develop chronic kidney disease. Doctors have always known that it is important to treat vitamin D deficiency in cystinosis patients, since vitamin D deficiency leads to rickets (in addition to the phosphorous wasting seen in Fanconi syndrome).  Low vitamin D levels may also be bad for the muscles.

Dr. Mak has shown that cystinosis mice with vitamin D deficiency have smaller muscle fibers, weaker grip strength, poor balance, and energy wasting.  He has also shown that vitamin D deficiency leads to genes being turned on that break down protein, which leads to muscle wasting.  He treated cystinosis mice with 25-Vitamin D (the kind your liver makes) and 1,25-Vitamin D (the active form that your kidneys make).  He found that in the mice treated with 25-Vitamin D, there was restoration of muscle mass, muscle fiber size, grip strength and balance, more than in the mice treated with 1,25-Vitamin D.

Remember that 25-Vitamin D is just the regular over-the-counter supplement after it is modified by the liver.  This is the form that the muscle uses, because the muscle has its own enzyme to activate it.  So while 1,25 Vitamin D (calcitriol) is crucial for bone health, it does not appear to be as important for muscle health. 

So what is the take home message?  Vitamin D deficiency is bad for muscles, so taking a vitamin D supplement is a good idea if you have low levels, and it may even help prevent muscle wasting.  This doesn't mean you should just start taking big doses of vitamin D, however, because you can theoretically get vitamin D toxicity.  Dr. Mak and Dr. Grimm said that if your doctor hasn't done it already, get your vitamin D levels checked, and if you are deficient, then take a supplement.

We built Sam and Lars a rock climbing wall in their bedroom to help them with limb muscle strengthening, especially arms and hands.  We have absolutely no evidence that it will make a difference in the long run, but it seems like a good idea, and they have a lot of fun with it! 


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.