Living with cystinosis has earned Chandler Moore a few battle wounds. After mulling over a way to symbolize the journey he’s sharing with his son, Clinton decided to permanently tattoo his son’s scars on his own midsection. We sat down with Clinton to talk about his decision and to hear what Chandler thought of this bold move.
Q: Can you explain what caused the scars we see in this picture? A: The upper scar is from the placement of a g-tube. This was needed to give extra nutrition and administer meds. The lower scar is from a more major surgery to create something called a mitrofanoff. Simply put, it’s a channel to insert a catheter from his belly button to his bladder to help with drainage.
Q: Are these your only tattoos?
A: Yes. I’ve never had an interest in tattoos... and still don’t. But after years of wishing I could take this disease for Chandler knowing I couldn’t I realized this is a way to share it. If he has to be “imperfect” so can I. Every scar that this disease gives to him my tattoo artist will give to me. I think this has impacted me personally more than it did him. Now I feel like I’m carrying it [cystinosis] with him.
Q: What did you son, Chandler, think of this idea?
A: Chandler thought it was a great idea and was quite happy to see me permanently tattoo them [scars] on me. He was even asked to attend on tattoo day so the artist could use him as a model.
Q: What do you hope to accomplish as a result of your new ink?
A: My hope was to show my son that he is not in this alone. I’ve got him. I always will. There is nothing I won’t do for him and if I could take this disease for him I would do it in a second. I would take it for every patient if I could. Also, to show him there is nothing wrong with being a little “imperfect”. Most imperfections are absolutely perfect.
RI-MUHC’s researchers increase efforts to eradicate rare genetic disorder in children thanks to Génome Québec and Genome Canada
Pulblished by: McGill University Health Centre
Montreal – The Research Institute of the McGill University Health Centre’s (RI-MUHC) push to treat a rare genetic disease in children – with a higher percentage found in French Canadians – has received $2 million dollars as part of a national genomic contest led by Génome Canada.
Dr. Paul Goodyer’s team at the RI-MUHC is at the forefront of North American efforts to develop a novel drug for nephropathic cystinosis, a disorder that is 10 times more prevalent in Québec. Without treatment, all affected children require kidney transplantation and survival beyond the age of 30 is rare.
"This is crucial to taking the next steps toward setting up a clinical trial; current treatment is helpful but doesn’t prevent the eventual outcomes,” says Dr. Goodyer, who is a senior scientist from the Child Health and Human Development Program at the RI-MUHC and a pediatric nephrologist at the Montreal Children’s Hospital of the MUHC. “If successful, this new non-toxic drug will have a similar application in a wide variety of genetic diseases caused by Nonsense Mutations, including cancers, while providing significant cost-savings to the Canadian healthcare system."
Dr. Paul Goodyer and his team at the RI-MUHC.
This form of nephropathic cystinosis is caused by Nonsense Mutations, an error in the gene code that prematurely signals the cell to stop producing a protein. In cystinosis, the loss of the CTNS protein causes a massive build-up of the amino acid cystine in all the cells of the body, which causes gradual organ deterioration.
"Our drug overcomes Nonsense Mutations by tricking the cell into overlooking the mistake in the code and continuing protein production," explains Dr. Goodyer, who is also a professor of Pediatrics in the Faculty of Medicine at McGill University. "By restoring production of the normal CTNS protein, sustained ELX-02 therapy has the potential to be curative."
Nolan, 9, has been in and out of hospitals since being diagnosed with the disease soon after birth.
Nolan and his mother, Sophie.
"At six months we realized something wasn’t right since Nolan was always thirsty and asking for water throughout the night but wasn’t gaining any weight or showing appetite. He could barely move or do anything that required physical demand. He refused everything. We brought him to the MUHC and straightaway they recognized the typical characteristics of the disease,” says Nolan’s mother Sophie, who has endured many sleepless nights tending to her son. “Dr. Goodyer’s research gives us real hope."
Dr. Goodyer has been collaborating with United States-based Eloxx Pharmaceuticals and expects clinical trials to eventually be concentrated in Montreal alongside Chicago and San Francisco. This project was one of seven to be awarded major funding from a nation-wide Genome Canada Genomic Applications Partnership Program (GAPP), which aims to foster partnerships between academic researchers and end users with projects that translate scientific innovation into action for the benefit of the Canadian population and economy.
"With this funding, local researchers will be capable of developing concrete and effective solutions that will save human lives, thanks to advances in genomics technology. Promising endeavors like Dr. Goodyer’s project are part of the shift towards precision medicine, which is transforming the way we treat rare diseases such as nephropathic cystinosis," says Daniel Coderre, President and CEO of Génome Québec.
About the Funding
The Research Institute of the McGill University Health Centre received funds from Génome Québec, which are provided by the ministère de l'Économie, de la Science et de l'Innovation du Québec (MESI), the Government of Canada, through Genome Canada, and private partners.
Learn more about the research project.
About Génome Québec
Génome Québec’s mission is to catalyze the development and excellence of genomics research and promote its integration and democratization. It is a pillar of the Québec bioeconomy and contributes to Québec’s influence and its social and sustainable development.
The funds invested by Génome Québec are provided by the ministère de l'Économie, de la Science et de l'Innovation du Québec (MESI), the Government of Canada, through Genome Canada, and private partners. To learn more, visit www.genomequebec.com
About the Research Institute of the MUHC
The Research Institute of the McGill University Health Centre (RI-MUHC) is a world-renowned biomedical and healthcare research centre. The Institute, which is affiliated with the Faculty of Medicine of McGill University, is the research arm of the McGill University Health Centre (MUHC) – an academic health centre located in Montreal, Canada, that has a mandate to focus on complex care within its community. The RI-MUHC supports over 420 researchers and close to 1,200 research trainees devoted to a broad spectrum of fundamental, clinical and health outcomes research at the Glen and the Montreal General Hospital sites of the MUHC. Its research facilities offer a dynamic multidisciplinary environment that fosters collaboration and leverages discovery aimed at improving the health of individual patients across their lifespan. The RI-MUHC is supported in part by the Fonds de recherche du Québec – Santé (FRQS). www.rimuhc.ca.
To arrange media interviews with Dr. Goodyer, please contact:
McGill University Health Centre
How to Participate:
Paul Goodyer, M.D.
Professor of Pediatrics at McGill University
Department of Pediatric Nephrology, Montreal Children's Hospital
A new registry was announced to help healthcare professionals better understand the natural history of cystinosis and explore new potential treatments. Read more.
Josie Sexstone, 10, and her mother, Jenni, stand next to all of the medication and dosages that Josie takes in a 24-hour period to treat her cystinosis, including Cystagon capsules, Levothyroxine, potassium citrate, Phospha 250, Levocarnitine and Zantac. Some of the medications are taken four times a day and require nighttime doses at 11 p.m. and 5 a.m. (EXAMINER PHOTO | 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.v 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.”
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.
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.
FOR IMMEDIATE RELEASE
LAKE FOREST, IL.—November 15, 2017— Receiving a rare disease diagnosis can be debilitating. With a 10-month-old baby, the Moore Family found themselves in that exact situation. Young Chandler had a disease called Cystinosis. It causes cystine crystals to accumulate in the kidneys, eyes, liver, muscles, pancreas, brain, and white blood cells. Without specific treatment, children with Cystinosis develop end stage kidney failure at approximately age nine.
Cystinosis advocates Annie, Chandler, and Clinton Moore with Delaware Senator Thomas Carper during Rare Disease Week 2016. See video footage: http://bit.ly/2mo62iz
After learning about Cystinosis and developing a daily management routine requiring mounds of medication, the Georgetown family set out to raise awareness and research funds. Last year, Clinton, Annie and Chandler visited Delaware Senator Carper on Capitol Hill. In October, Clinton was elected President of the Cystinosis Research Network (CRN) supporting the 2,000 individuals and families living with Cystinosis.
At the heart of their efforts is Chandler’s Chance Christmas Palooza. It started five years ago with Chandler selling hot chocolate and has exploded into a night of magic. Hay rides, face painting, BB gun shooting gallery, Mr. and Mrs. Claus, photo booth, fire truck rides, live music from the Dirt Road Outlawz and more can be found along with thousands of holiday decorations along the property. Clinton said, "It took me eight years to get started. I wasted a lot of valuable time. I really didn’t think that I could make a difference, just one person can’t possibly make a difference but I was wrong because now we are reaching 500 attendees so that’s a lot of awareness raised finally because I got motivated to do something."
Clinton Moore, newly appointed CRN President, shaves head in support of Cystinosis patients also battling cancer.
The family friendly event is free of charge with donations benefitting the CRN. The Moore Family is hoping to top their record, setting a goal of 600 attendees. For more information, visit https://cystinosis.org/chandlerschance
Chandler’s Chance 5th Annual Christmas Palooza for Cystinosis
Saturday, December 2nd 5:30pm- 9:00pm
24062 Peterkins Road, Georgetown, DE 19947
Jack Greeley is my hero. And my husband Dave’s. And my daughter Alex’s. Really, it’s hard to get to know Jack and not understand why.
As many in Lincolnshire know, my son Jack was diagnosed with Cystinosis in the spring of 2001, only a few months after our family moved to this wonderful community. My daughter Alex was 4 then (now a sophomore at the Savannah College of Art and Design) and Jack (now 16 and a Junior at Stevenson) was 14 months old. Our lives would never be the same, of course in so many frightening, gut wrenching ways, but surprisingly in so many more extraordinarily positive and life affirming ones.