Living with cystinosis can sometimes feel like living on a deserted island. With the help of in-person events, online groups and stories like these, we hope everyone is inspired to keep up the fight. We are all in this together!
Time for Transplant: Kidneys from Strangers
10-year-old Girl Shares Life with a Rare Disease on Capitol Hill
Cystinosis Awareness Day
That there was a stranger that was willing to put his life on hold
"and donate part of his body to somebody he has never even met is just so amazing..."
-Heidi, living with cystinosis.
Time for Transplant: Sarah's Story
Woman’s Generosity Changes Life of Girl She’d Never Met Until Now
Original article published by MUSC/Helen Adams
Sarah Larimore, a 12-year-old girl with pink streaks in her blonde hair, smiles as a young woman is rolled into her hospital room at MUSC Children’s Health in a wheelchair.
“There’s somebody who wants to see you,” transplant surgeon Satish Nadig tells Sarah.
That somebody is Heather Cox, who has never met Sarah before now — but whose decision to become a living donor and give a kidney to a stranger has changed Sarah’s life.
Sarah’s mother, Katie Larimore, rises to hug Cox. “I can’t even thank you enough. This is our Christmas miracle.”
The Larimores waited a long time for that miracle.
Sarah was diagnosed with cystinosis as a toddler. It’s a recessive genetic disease. That means it only shows up if two people who carry the recessive gene for it have a child together. And even then, the odds are just one in four that the child will have cystinosis. Sarah was that unlucky one.
Cystinosis causes the amino acid cystine to build up in the body, often causing end-stage kidney failure before a child’s 10th birthday. Sarah’s kidneys were so badly damaged by scarring from the disease that both were removed in August. She’s been on dialysis since then, a process that does the blood-purifying work that kidneys normally do.
The Blythewood, South Carolina, girl ended up at MUSC Children’s Health, about two hours away from her home, because it has the largest kids’ kidney treatment program in the state and is ranked a “best hospital” for nephrology by U.S. News & World Report for 2017-2018.
Heather Cox was familiar with the challenges of kidney disease. Not her own, but her boyfriend’s. Ken MacGillivray, who has type 1 diabetes, had kidney and pancreas transplants at MUSC Health in July. Cox took care of him while he recovered.
She also made an important decision. Cox told the living transplant donor coordinator at MUSC Health, Kimberly Goad, that she wanted to give one of her kidneys to someone who needed it. She wanted that person to have the same fresh start as MacGillivray had. There was one condition: Cox wanted the organ to go to a child.
Through the United Network for Organ Sharing, or UNOS, she was matched with Sarah.
Heather Cox, still in a wheelchair after surgery to remove one of her kidneys for donation, talks with Katie Larimore. Photo: Sarah Pack
Sarah and her mother weren’t far away. They’d rented a condo in Mount Pleasant to be near MUSC Children’s Health for treatments while they waited for a donor.
Sarah’s mother remembers the day they learned about Cox’s generous offer. “It was amazing. I was driving across the Cooper River Bridge when Kimberly [Goad] called me, and I thought I was going to drive off the bridge. I was crying and couldn’t see where I was going,” Katie Larimore says.
The MUSC Children’s Health transplant team was thrilled to find a match for Sarah, too. Its program is the busiest in its UNOS region, but the team is not too busy to pause to recognize the special impact each transplant has on multiple lives.
So when the doctors, nurses and other transplant specialists found out Cox and Sarah were about to finally meet, they flocked to Sarah’s room to witness the meeting between a woman willing to literally give part of herself to a stranger and the sixth-grader whose life she helped save.
Ken MacGillivray, left, and his mother, Marty, join Jeff and Katie Larimore and Heather Cox with their backs to the window. In front, Dr. Satish Nadig, Sarah Larimore and Kimberly Goad celebrate the success of Sarah’s kidney transplant. Photo: Sarah Pack
In Sarah’s hospital room, tears flow as Cox rises from her wheelchair with assistance. “I want to hug peanut,” she says, referring to Sarah.
She carefully walks the few steps separating her from Sarah and leans down to embrace her.
“Thank you so much,” Sarah says.
“We’re so happy for you baby,” Cox answers. “You’re going to do great.”
Sarah’s parents are smiling as tears roll down their faces. Her mother tells Cox they don’t know what to say about what she’s done for Sarah. “Your kidney is beautiful,” Katie Larimore says. “Dr. Nadig is bragging about her labs. She’s perfect. She’s hurting, but it’s worth it.”
Her husband, Jeff Larimore, agrees. “She’s thriving.”
Cox has already sent a stuffed bear to Sarah, which lies on Sarah’s bed. Sarah’s family gives Cox a quilt made for her by a family friend. “Thank you for my blanket,” Cox says. “I love it.”
They also talk about something else Cox and Sarah have in common: brightly colored hair. “I can’t believe Heather has blue hair. It’s the coolest thing ever,” Katie Larimore says. “Sarah has always had colored hair. It’s her thing.”
Katie Larimore then describes what their family has been through. “We’ve been waiting for 10 and a half years,” she says. “All kids with cystinosis need a transplant, and do very well.”
She knows exactly what she’s talking about, thanks to the family’s involvement with the national Cystinosis Research Network. Both Katie and Jeff Larimore have served as volunteers, meeting other families and raising funds and awareness about the disease.
Due in part to that organization’s hard work, there’s good news for the estimated 2,000 children around the world with cystinosis: Treatment is more widely available than it used to be, and children with the disease can live into adulthood.
Sarah will still have to take medication for cystinosis, along with anti-rejection drugs to keep her body from rejecting the new kidney, but Cox’s donation means Sarah will be able to get back to enjoying all the things a 12-year-old girl should. And maybe more, after all she’s been through, her parents say.
“I want to swim with dolphins again. In the Bahamas,” Sarah says.
Her mother answers, “You want to go? I guess we’re going.”
Sarah follows up. “You said we could go on a cruise.”
“We’ll do it,” her mom agrees.
Sarah isn’t the only one with something to look forward to. The Larimores tell Cox that she needs to check out Facebook, where the cystinosis community has been following Sarah’s situation closely.
“We know everyone in the United States with this disease, but also have a huge international community,” Katie Larimore says. “If you’re on Facebook, you can friend me and read all the well wishes you have received from around the world. A story like this, where one of our patients is having a miracle, literally, it raises hope for cystinosis patients around the globe. We’ve got hundreds of well wishes for you.
“You have brought hope to 2,000 people with this disease around the world, and their faith is restored. Some people have been on the transplant waiting list a really long time. It’s not just Sarah that you’ve helped,” she adds. “It’s our entire community.”
Time for Transplant: Heidi's Story
Edgewater Firefighter Donates Kidney To Save Stranger
Originally published by Summit Daily/Sawyer D’Argonne
Heidi Hughes is on the road to recovery and she’s feeling like a completely different person.
Hughes, a long-time Breckenridge resident, has spent the last decade combating serious kidney failure with less than 20 percent function in her one working kidney. But all of that changed last month when David Blair, a firefighter in Florida, decided to donate a kidney to Hughes, a complete stranger.
While complications arose following the somewhat untraditional procedure, the surgery was successful and both Hughes and Blair are on the mend.
“That there was a stranger that was willing to put his life on hold and donate part of his body to somebody he’s never even met is just so amazing,” said Hughes of Blair’s donation. “It’s just a wonderful feeling knowing that there’s people like that out there in this world.”
Hughes, a Florida native, was born with a rare genetic disease called cystinosis, a condition characterized by the accumulation of cystine crystals within cells. The buildup can have severe and far reaching effects on the body, causing problems in a variety of organs and tissues, though the kidneys are often the most vulnerable.
Hughes had her first kidney transplant at the National Institutes of Health in 2002, after her father, Garry Hughes, donated his own kidney for the procedure. While the surgery was successful, the new kidney only served as a temporary solution. In 2008, Hughes was again diagnosed with kidney failure and it took more than a year for her to be added back to the transplant list in Florida. But Hughes decided not to be defeated by her illness and moved to Colorado to embrace life.
“I took it not as a life sentence or a diagnosis, but as a challenge,” said Hughes. “I moved to Breckenridge in 2010 and basically lived the life we all live out there. I would snowboard, splitboard, hike and mountain bike. All those things we do. And I truly think that the whole eight-year period really helped me prolong my kidney’s life. I was at 20 percent function or less for about nine years and that’s kind of unheard of.
“But if you passed me on the street or on the slopes you’d have no idea. I was hiking 14ers, and doing what I could to stay healthy and positive. I really believe that Summit County and all the people and the environment allowed me to embrace life and the life that I had left.”
But about a year ago, things took a turn. Hughes said that as she continued to get sicker and weaken, the life she moved to Breckenridge to live was no longer an option. It was time to pursue a second kidney transplant more aggressively.
Hughes reached out to Dr. Allan Kirk, the surgeon who completed her first transplant who now chairs the Duke University School of Medicine Department of Surgery. Kirk agreed to oversee the procedure, if Hughes could find a donor.
Earlier this year Hughes was placed on the living donor list, but her family wasn’t content to sit around and wait. Her parents launched a social media campaign on Facebook to try and bring attention to Hughes’ story, and her father, a 34-year firefighter, began spreading the word to his colleagues as well. It was there, amongst the close knit community of firefighters in Florida, that they found their man.
David Blair, a lieutenant and EMT with the Edgewater Fire Department, didn’t know who Heidi Hughes was. But he did recognize her father, at least by name. The two knew each other somewhat through their work at the Daytona International Speedway, which brings in firefighters for races. Moved by the Hughes’ story, Blair decided to give the ultimate gift.
“I have two daughters,” said Blair. “I related to that, and to Garry not being able to donate because he already had. I thought about what I would do in that situation and I’d hope someone would help out. I’m also a man of faith, and it’s always been preached to love one another and help people out. Those two things were prevalent in my mind.”
From there Blair and Hughes began the process at Duke University Hospital, taking surveys and tests trying to find out if Blair was compatible. As it turned out, Blair and Hughes have completely different blood types, but the doctors at Duke were able to work their magic.
“We didn’t have blood types that matched, but Duke is on the cutting edge medically with all these new treatments, and I decided to accept an ABO non-compatible match,” said Hughes.
As a result of the difference in blood types, Hughes was forced to undergo a slew of other procedures to assure that her body wouldn’t reject Blair’s organ such as blood transfusions and numerous procedures called plasmapheresis, a process similar to dialysis which removed antibodies that would negatively react to Blair’s kidney.
The two had the procedure on Nov. 15, performed by Dr. Aparna Rege and overseen by Kirk. The surgery was successful, though there were a number of complications. Just three days after the transplantation, during Hughes’ fourth round of plasmapheresis, she went into anaphylactic shock and stopped breathing. She was immediately rushed to the intensive care unit where she was saved.
Hughes was released from the hospital about a week later, but was forced into emergency surgery the next day after doctors found two hematomas — swelling of clotted blood within the tissue — which needed to be surgically removed. Doctors decided to leave Hughes’ wound open, opting to use a “wound VAC” — inserting a sponge into the wound along with a vacuum device that sucks out possible infection. On Dec. 3 Hughes went into surgery again to have the device removed and no infections were discovered. She was finally released on Dec. 4, after more than three weeks in the hospital.
Hughes will be staying in North Carolina for the next six months so that doctors can keep a close eye on her. She’ll head back to the hospital twice a week for checkups and blood draws, but is already beginning to feel better. Blair said that he’s back home in Edgewater with his wife, Jennifer, and his two daughters, Jordan and Haley. He said he’s still a little sore and fatigued, but gaining his strength back quickly and getting back to normal.
Both Hughes and Blair noted that they hope their respective stories will lead to more individuals becoming organ donors, and even to more people joining live donor lists.
“My goal in talking to the newspapers locally and now in Colorado is that someone else will see it and it will spark an interest in being a donor,” Blair said, “and maybe another person who needs a kidney will benefit from our story. It’s a straightforward process, so hopefully someone will read our story and be inspired to help a family member or a stranger.”
For Hughes, there are still a lot of question marks. She noted that there’s no guarantees in regards to how long her new kidney will last and that she still faces continued issues with her cystinosis. But she’s dedicated to keeping herself as healthy as possible, and making the most of life.
“I still have everything that comes in hand with my disease like muscle wasting and crystals in my eyes that could lead to blindness,” said Hughes. “But if I take my medications and stay on top of my health and happiness, and do everything in my power than I’m looking forward to having a long, happy and extraordinary life. And hopefully I can go back out to explore Colorado and out west. It’s all an opportunity that I’m so excited to have now.”
10-year-old Girl Shares Life with a Rare Disease on Capitol Hill
10-year-old Girl Shares Life with a Rare Disease on Capitol Hill
Excerpts from article originally published by the Bellefontaine Examiner/Mandy Loehr
Benjamin Logan Elementary student Josie Sexstone spent her spring break last week just enjoying some of the perks of being a 10-year-old. She stayed up late during sleepovers with her cousin and sister and had a memorable outing to the trampoline park Sky Zone, where she jumped around until she was “red in the face,” she says.
Her family is most thankful for these somewhat ordinary and also lighthearted days for their fourth-grade, sweet-spirited daughter, who lives with a rare metabolic disease called cystinosis, which affects approximately 500 people in the U.S. and about 2,000 people in the world. Every day, it takes an extraordinary effort from both Josie and her parents to take and administer a number of medications around the clock, with doses that could nearly fill an entire table, to treat this condition.
In addition, she also uses special prescription eye drops called Cystaran multiple times during the day to dissolve corneal cystine crystals in her eyes and relieve photophobia, pain or discomfort in the eyes due to light exposure.
While some of her medications can really taste foul, even after being mixed with juice, and also have to be taken at overnight hours – 11 p.m. and 5 a.m. – to meet the four required doses in 24 hours, Josie takes them in stride and is not one to complain. The mature-beyond her years pre-teen knows how vital these medicines are to keeping her healthy.
“It’s just something I have to do,” she said nonchalantly last week at her Zanesfield area home that she shares with her parents, Jim and Jenni, and 14-year-old sister, Jordan.
“I’m used to it; it’s part of our routine. It might not be fun, but if I just take it quickly, then it’s done.”
Capitol Hill opportunity
Josie was diagnosed at age 14 months with cystinosis, which causes an amino acid, cystine, to accumulate in various organs of the body. Cystine crystals accumulate in the kidneys, eyes, liver, muscles, pancreas, brain and white blood cells, according to the Cystinosis Research Network’s website, www.cynstinosis.org. Without specific treatment, including the many medications that Josie takes, children with cystinosis develop end-stage kidney failure at approximately age 9, the CRN reports.
Over the years, the progressive condition also can cause complications in other organs of the body, including muscle wasting, difficulty swallowing, diabetes and hypothyroidism.
To share some of Josie’s unique story and help advocate for others with rare conditions around the country, the 10-year -old and her family were invited to Washington, D.C., for Rare Disease Week at the end of February and first part of March. They were extended the invitation as result of their involvement with the Cystinosis Research Network, including Mrs. Sexstone’s work as a board member for the organization.
Throughout their time on Capitol Hill, the family met with representatives from the offices of Senator Sherrod Brown, D-Ohio, Senator Rob Portman, R-Ohio, and Representative Steve Stivers, R-Ohio. They also spoke with Representative Jim Jordan, R-Ohio, “who went out of his way to meet with us,” said Mr. Sexstone.
Josie’s mother related how they want to use their experiences to help others with various rare diseases to also have access to treatment and specialty medications. One of the main treatment drugs that Josie takes, Cystagon, has been approved by the Food and Drug Administration since 1994 for the standard treatment of cystinosis. It is a cystine depleting agent, meaning that it lowers cystine levels within the cells. It has proven effective in delaying or preventing renal failure, and also improves growth of children with cystinosis, according to the CRN’s website. “While this medicine doesn’t taste good and is unpleasant to take, Josie know how fortunate she is to be able to have it as it keeps her alive,” Mrs. Sexstone said. “We’ve come to realize how fortunate we are that her condition is one that has a treatment, as only 5 percent of rare diseases have a treatment available. Josie wants everyone with a rare disease to have the same access to the medication she does.”
Along those lines, the Zanesfield family said while in D.C., they were advocating for the Orphan Product Extensions Now Accelerating Cures and Treatments Act of 2017, introduced by Senator Orrin Hatch, R-Utah, which has been endorsed by more than 200 patient organizations, including the CRN, according to Rare Disease Report’s website, www.raredr.com. The OPEN ACT would provide incentives to pharmaceutical companies to repurpose already approved drugs for the treatment of rare diseases. The main incentive would be an additional six months of market exclusivity to drugs that are repurposed and approved by the U.S. Food and Drug Administration to treat rare diseases.
This law would apply to currently approved drugs that are still under patent. The 6-month extension would be in addition to other types of exclusivity, such as pediatric or qualified infectious disease product exclusivity, according to Rare Disease Report.
Early years and a quick diagnosis
Long before they were serving as health advocates on Capitol Hill, the Sexstones related that the first months of their youngest daughter’s life went smoothly and without any major concerns. However, during check-ups with her pediatrician between ages six to nine months, they noticed that she hadn’t grown any taller, and at her one-year checkup, the parents and their doctor were alarmed that Josie had lost weight. “She had been throwing up some, and our doctor thought at first that she had a virus,” Mrs. Sexstone said. “But Jenni didn’t take ‘no’ for an answer,” her husband said. “We just had the feeling that something wasn’t right.” Their pediatrician ordered blood work and a urine sample for their 12-month-old girl. In the meantime, the family went on a vacation to Kelley’s Island and that’s when they received some urgent news. “We got a call while on our trip that Josie likely has some kind of kidney disorder,” Mr. Sexstone said. “They wanted us to see a doctor at Cincinnati Children’s Hospital right away.”
The former Cincinnati area residents said they saw the nephrologist shortly thereafter, who also observed that Josie had rickets, as she was bow-legged and her bones were very soft. Although he didn’t mention it to the family right away, the experienced doctor suspected that Josie had cystinosis, and sent her blood samples off to San Diego to test for that condition. In about two to three weeks’ time, the family would learn that their daughter had this very rare disease. “The news at the time, of course, was devastating to us,” Mrs. Sexstone said. “While we very much grieved hearing about this condition, we also were grateful to know what was causing these issues for our daughter. “Also, it typically can take seven years to receive a diagnosis for a rare disease. It’s remarkable that we were able to connect with the nephrologist who was familiar with cystinosis and just had a feeling about Josie, so we got this figured out in a matter of weeks.”
For the family of four, life these days is filled with some of the usual hustle and bustle of having a 10-year-old daughter and 14-year-old daughter, along with the medication demands and other requirements to keep Josie healthy with cystinosis. Several times throughout the year, she has appointments with specialists, including nephrology, orthopedics, ophthalmology and endocrinology. The preteen also has blood work performed four to six times a year to check on her levels. During her school day at BLES, her teachers also know that Josie needs open access to water at all times. In gym class and recess, she is encouraged to participate in any and all activities, but just has to make sure she doesn’t get dehydrated and she takes extra precautions when playing out in the sun. “It’s our normal; we all have to adjust to make it work,” said Mr. Sexstone, who serves as the executive director of the Hilliker Y and YMCA Camp Willson. “We couldn’t do it without our family, friends and Josie’s school; they’ve all been so supportive,” said Mrs. Sexstone, who serves as a finance manager for a Cincinnati-based publications company and works remotely from her home. “The school and her teachers have been incredible. She has to take her medicine throughout the day, and they are so good about making sure she has water and anything else when she needs it.”
Older sister Jordan also provides a close-knit support for her young sibling, watching the clock and noting when it’s time for Josie’s medications, and also helping her sister to grab a snack that she needs before taking different prescriptions. “Jordan takes very good care of her little sister; their relationship is a special one,” their father said.
Another important group in the Sexstones’ lives is the Cystinosis Research Network, where the family has found overwhelming support from others living with the same condition, along with medical experts related to cystinosis. They typically attend conferences with the organization every other year in locations around the country. Josie named a number of friends she has made through the organization, other children with whom she shares a close bond and who deal with the same challenges of this genetic condition. “This is the place where I feel like I belong,” she said of the conferences. “My friends there, they know what I go through. One of my friends, Casey, even taught me how to do the eye drops.”
The BLES student’s current good health and activity levels, including one of her favorite activities, playing basketball, are certainly not taken for granted by her and her family. Even with the specialized prescription medication treatment, individuals with cystinosis typically need a kidney transplant sometime in their teen years, but that age can vary at times.
Other interventions that the 10-year-old might eventually need include knee surgery and a procedure on the arches in her feet, her parents said. But with her loving family, CRN friends, family and medical experts looking out for her, Josie will continue to pursue those activities that bring her joy and will share her sunny disposition with those she meets. “I’m just enjoying being me,” she said at her home last week.
Cystinosis Awareness Day: 57 Mile Walk
57 Miles for Cystinosis: Journal by Clinton Moore
This 57 mile walk was inspired bya movie called the Ataxian. I watched it during Rare Disease Week in Washington D.C. back in February. While watching the film, my mind drifted to thinking about what could I do on the extreme side for the cystinosis community. Two other walkers pledged to endure the entire 57 miles with me, both good friends: Cody Collins and Elaine Hyler. Other people will be joining for a part of the journey too. We feel good…we are ready. It’s time to walk all over cystinosis!
Clinton, Chandler and Elaine Hyler are ready to begin the 57 mile walk for cystinosis.
11:40 AM We are off to a late start, but the gang’s all here, and we are ready to go. The current plan…to pound as many miles as we can…as fast as we can.
2:00 PM Before beginning the walk, I agreed to complete some “dares” during the race. Kind (or perhaps cruel) donors, provided CRN with a $50 donation to see the dares come to life. A little while ago I got a taste of the first dare – dressing like a baby – I wore a diaper and sucked a pacifier for an entire mile! I may be starting to regret this part of the commitment.
4:00 PM It looks like we are averaging three miles an hour which should put us at 57 miles around noon tomorrow.
6:00 PM We are over 15 miles in, and Annie and Chandler have informed me there is a coconut bra and grass skirt with my name on it. This should be cute. Overall everyone is holding up good so far. Spirits are high.
Another “Rare Dare” for a $50 donation to CRN found Clinton walking a mile in a grass skirt and coconut bra.
8:00 PM Just got word that burgers are waiting for us at our next checkpoint…which will be great. There is a 3-legged dare just before sunset. At this last rest stop people started bending over and grabbing their knees to rest – perhaps fatigue is setting in? Also, we just got word that downpours are imminent. Along with almost guaranteed thunderstorms.
10:00 PM We are now under a tornado watch until 1 am. At around 10:30 pm we had to take cover under a pavilion, but the rain will not dampen our efforts. This storm is severe. Heavy lightning and thunder, downpours, and high winds. We found a large enough area to continue walking after moving a dozen or so picnic tables. There are a few other people also taking cover under the pavilion. It looks like they are playing a card game of some sort. We are doing our best not to get soaked as temperatures are plummeting.
1:00 AM The pavilion was our safe place for the last three hours. However, it is getting late, everyone looks and feels exhausted and those small circles and constant left turns are enough to drive anyone bonkers. So we moved on. Nate joined the walk. It is now 60 degrees! Who’s making fun of my jeans now?
3:00 AM Cody has just informed me he cannot go on. He gave it 100% effort. He’s been struggling for the past couple hours with foot pain.
3:30 AM Elaine just told me she must lay down. She cannot go on either. She is also experiencing foot pain. I have Nate and his legs are still fresh.
4:30 AM The internal struggle begins. The thoughts of… ‘I can’t do it, and I won’t do it again’ are haunting me. Should I make a change in trail? This road is beating me up. The large rocks are terrible on my feet. I just stare at the road. It looks no different than the sky. Dark. All outside communication has stopped. No texts. No calls. No Facebook notifications. It’s quiet. Too quiet. Everyone is asleep as they should be. My own mental demons are telling me to quit. I feel defeated and alone. I am exhausted. I grabbed some snacks in hopes of an energy boost, but it doesn’t seem to be working. I’m pretty sure I just swallowed a bug. Even Nate and I are barely talking. The mental fatigue at this point is out weighing the physical by far.
6:00 AM The sun is back and it’s like a breath of fresh air. We made a trail change to ease the walking efforts. There is storm damage everywhere.
8:00 AM Less than 13 miles to go…just got a text that a coffee and a bagel is waiting for us.
11:00 AM Here we go – a “Rare Dare” to make a rap song to include Elijah (Emily Mello’s son). Our group came up with it together and I was happy to nail it on the first take! We wanted to be finished during this hour. Watching those minutes tick by, and having the finish line beyond my viewpoint are a blow, but we keep moving.
1:00 PM There are 1.7 miles left. The original plan had us finishing at the end of this loop, but staying true to ourselves, we were a bit short due to some of the improvisations we had to make. Almost there! The last lap.
1:30 PM Our 57- mile mission is complete! WOW – the emotions! Family and friends met us at the end and this journey has left each of us with tears in our eyes. This was beyond tougher than I thought. I completed over 400 miles of training walks that helped physically but the mental stress was extreme. That being said, I would gladly endure this again as well as much more for this community.
Thank you to the Moore family, Cody Collins, Elaine Hyler, and Nate Roberts.
You can check out videos from the journey on our Facebook page: facebook.com/CystinosisResearch. We are currently putting together a task force for the 2019 Cystinosis Awareness Day and determining how to expand on the success of 57 Miles for Cystinosis. Email Clinton to be a part of the event at email@example.com.
UPDATE: Clinton’s team had a fundraising goal of $10,000. At the end of the 57 mile walk they had more than doubled their goal. The financial contributions and positive energy sent our way has been amazing! If you’d like to help fund cystinosis research, click here.
Cystinosis Awareness Day: Hikes of Hope
Hikes of Hope with Jessica Jondle
Originally posted by Jessica via her fundraising page and the Hikes for Hope Facebook event.
Setting out on “A Hike of Hope” to raise money for cystinosis research. Happy Isles (~4000 ft) to Clouds Rest (~9900 ft).
I was diagnosed with cystinosis in 1983, just as cysteamine therapy was in the clinical trial stages. After two years of hemodialysis, I received a deceased donor kidney transplant on August 12, 1999. In 2011, I learned that cystinosis was taking a toll on my pulmonary function due to muscle wasting in the diaphragm and esophageal musculature. That’s when (and why) I started hiking at high elevations. I’ve made some progress with my lungs, but I know I must be relentless because cystinosis certainly is.
I have one copy of the common 57-kb deletion in the CTNS gene. It’s ironic that this deletion, designed to take something away from me, has actually given me so much more than I could ever have imagined.
- Setting out around 11pm tonight! Wayne is being amazing and hiking with me until sunrise because I’m afraid of bears. Thank you to all who donated to CRN.
- Not the greatest looking sky out there right now according to this webcam. Clouds Rest is the highest point near the top center of the photo, behind Half Dome. Right now, predictions of thunder are limited to tomorrow after 11am, which is fine. But you don’t go up to high, treeless places when there’s thunder – so if the forecast changes the schedule might need to as well.
- Elevation at the start
- Past Half Dome and finally on Clouds Rest Trail
- Clouds Rest is just 3.8 of the hardest miles ever away. Cystinosis bracelet courtesy Clinton Moore, who is well into his own trek by now.
I don’t know if I’ll make it in time – I know thunder snow is in the forecast – but I just sat down and bawled. I wasn’t supposed to do any of this. I wasn’t supposed to be here. I’m here because of research that came into being right around the time I did. I have had so many friends die. I can’t even tell you. I have survivor’s guilt and while I know God has a plan for me, he has plans for all of us and sometimes I wish they were different.
Thank you for supporting life-saving research. My hope is that children with cystinosis who form friendships with each other at gatherings now grow old together. Have decades-long friendships.
Am I stalling? Yes, of course. I know there are 2500 feet of elevation gain in these 3.8 miles. And I’ve been to Clouds Rest – albeit from a much higher trailhead (Tenaya Lake) – so this just felt a little more important.
- Elevation from over an hour ago- 8215. I’ve been trying to post but reception is spotty. My altimeter spins and won’t settle now. Judging by my topo and switchback position I think I may be at 8800? But to be honest, it could be lower. I intended to be out here 24 hours. I think I’m still ok since I’m faster going down.
- I’ve had to start making my way down, because I didn’t make it in time and Clouds Rest is now socked in. If I’m honest, I’m also exhausted. So I went from just over 3900 feet to just under 9100 feet and got within a mile of my destination. A 24-hour hike, yes (most likely by the time I get out), a 5700-foot gain, no. I am so disappointed for so many reasons.
I hope I did enough to embrace the intent of why you donated: to break down the limitations cystinosis dictates, either through research or through encouragement.
- Finished. Exhausted. Ready to head home. Wanting to wrap everything in Icy Hot patches. Already planning to get those last 500 feet via the standard trail.
UPDATE: Jessica exceeded her fundraising goal of $570. Through Hikes of Hope she’s raised over $800 for cystinosis research and important awareness for our rare disease. Donations towards the fight against cystinosis are now being accepted here.