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By Melinda Carstensen, ,
Published October 28, 2015
From the day Jessica DeDio learned her son’s kidneys would one day fail due to a rare disease he was diagnosed with as a child, she’d tended to her health so she could donate her own. DeDio and her son, Bailey, found solace in that idea, but when cystinosis, a disease that prevents the imperative breakdown of a protein in the body, finally caused his kidneys to malfunction in November 2013, they learned through tests at Stanford University that she wasn’t a good fit.
“I called Stanford and begged them to please take my kidney because I had made a promise to my son, and I couldn’t keep that promise,” DeDio, 38, told FoxNews.com. “Bailey was petrified.”
DeDio turned to her friend Mary Jordan, the mother of one of her son Bailey’s best friends, Joey, for comfort. The mother-son pairs had met years before at Stanford during a clinical trial for a drug meant to delay the inevitable kidney failure brought on by cystinosis, which Joey also suffers from.
As Bailey’s 14-year-old body was rejecting dialysis, and all 10 people who’d raised their hands to donate their kidneys fell through, Jordan gave DeDio a shoulder to cry on. Yet she also offered her friend an unprecedented gift: a matching blood test and a kidney for Bailey.
“I knew what she was going through because I went through the same thing with Joey, and I knew how devastating it was to be told you’re not a match for your son,” Jordan told FoxNews.com. “She was devastated from that, and I just wanted to be able to give that gift to her.”
Prior to his transplant in April 2012, Joey learned his own mother wasn’t a perfect match for him. At the time, as the teenager’s kidneys failed, doctors found a fit for him from a deceased donor, and, as if serendipitously, by the time Bailey needed a donor Joey was on the mend.
‘They thought I was crazy’
Bailey and Joey, now 17 and 18 respectively, met about five years ago after enrolling in the six-month clinical trial at Stanford for the drug that’s now sold as PROCYSBI. The Food and Drug Administration (FDA) approved the drug for children ages 6 and older in April 2013, and extended its approval this month to children between ages 2 and 6. PROCYSBI, whose chemical name is cysteamine, retools a previously approved cystinosis drug, cystagon, and assumes the form of microbeads that bypass the stomach to be released further into the bowel.
At Stanford, the boys befriended each other due to a mutual interest in computers, as well as their similar physical appearance— distinct heads of red hair— amidst a group of other Caucasian cystinosis patients who had the disease’s hallmark pigment abnormality, which produced blonde hair and blue eyes. Black and Hispanic cystinosis patients do not have that pigment abnormality.
“It was as if they were twins,” Jordan said of Bailey and Joey, pointing out that the boys look and act more alike than Joey and his true twin, Patrick, whom the Jordans adopted during infancy. Patrick does not have cystinosis.
Individuals with the disease have a faulty gene that prevents cysteine from being recycled in the body, causing the protein to form sharp crystals in the organs and lead to cell death. In some organs, cysteine accumulates faster, while in other organs the process unfolds more slowly. According to the National Institutes of Health (NIH), the genetic disease affects an estimated 1 in 100,000 to 200,000 newborns worldwide. The Cystinosis Research Foundation estimated that about 500 people in the United States, and 2,000 worldwide, were living with the disease in 2013.
“Carriers feel normal, and no one knows that they’re a carrier,” Dr. Paul Grimm, professor of pediatrics and medical director of the pediatric kidney transplant program at Stanford, told FoxNews.com. Grimm was a study author at Stanford for the cysteamine study that Joey and Bailey participated in.
Children with cystinosis are typically diagnosed with the disease within the first year of life, when they stop growing normally, start having seemingly unquenchable thirst, vomit relentlessly, and lose weight.
Because the disease is so rare, parents of children with cystinosis often have to advocate for their children to doctors who may be unfamiliar with the disease.
“I took [Joey] to the doctor, and they thought I was crazy,” Jordan told FoxNews.com. “This went on for two years.”
When Joey was a child, the only way Jordan and her husband, Richard Jordan, could get Joey to eat was to prevent anyone in the house from having liquids around until Joey had his meal first. When he began eating solid food, he exhibited a strange appetite— also a common characteristic of the disease— by adding salt to already-sodium-laden foods like bacon and salami. At night, Jordan would sleep on the floor next to Joey because he would constantly soak through his diapers and bedding, so she would need to change them every couple of hours.
“I’d get two hours of sleep if I was lucky,” Jordan said.
When the Jordans moved from San Jose to Rocklin, California, following a string of disbelieving doctors at other hospitals, others at Kaiser Permanente, in Roseville, listened to Mary after observing Joey swig four cups of water in 10 minutes. A subsequent urine test then a kidney biopsy prompted a cystinosis diagnosis when he was 3 years old.
DeDio endured a similar struggle with Bailey, who would drink so much liquid as a small child, he’d projectile vomit. It got so bad that DeDio had to rip up all the carpet in the house, replace their soiled couches and install hardwood floors.
“We took him to doctors, and the doctors kept sending me home, kind of saying, ‘You’re crazy; you’re overreacting.’ The doctor said, ‘You’re giving him too much food,’” DeDio said. “I had to be assertive and aggressive, and fight for a diagnosis.”
After about eight months of fighting, doctors at Children’s Hospital of Orange County (CHOC) finally diagnosed Bailey with cystinosis when he was 18 months old.
‘He was going to lead a normal life’
In the 1970s and ’80s, before doctors began performing dialysis and pediatric kidney transplants, cystinosis patients would die by age 10 or 11. Due to modern medicine, what once was an early death sentence has become a manageable disease, and patients are living into their 50s and 60s, Grimm said.
Cystagon, the precursor to PROCYSBI, was approved by the FDA in 1994 and has similarly helped extend patients’ lives by delaying organ failure.
Joey and Bailey were prescribed cystagon during childhood, which marginally aided their sleep and decrease the times they needed to urinate, but the drug does not provide a cure.
Cystagon causes stomach irritation, must be taken every six hours on the hour, and contains sulfur— a substance that exudes a rotten-egg smell when patients sweat, burp or cry— which makes it hard for some teenagers to comply with its use.
“Teenagers want to be attractive to the opposite sex, and they’re horribly concerned about their appearance,” Grimm said. “If they take a drug that makes them smell bad, it’s no wonder teens don’t comply, and so a lot of kids stop taking the medication.”
In addition to taking a cocktail of about 15 drugs, including cystagon, during childhood, Joey began taking growth hormones at age 7. Doctors told the Jordans that without growth assistance, Joey likely wouldn’t grow to be 5 feet tall. He is 5 feet 8 inches tall today.
Cystinosis patients also dehydrate easily so the Jordans would administer a cooling agent on Joey’s skin and ensure he was hydrated while playing soccer, baseball and flag football.
“That was one of our biggest goals as parents: that he was going to lead a normal life,” Mary said.
“He was going to do everything his brother (Patrick) was going to do,” Richard, Joey’s father, told FoxNews.com. “He broke his arm a dozen times because he was going to have a good life no matter what.”
Today Joey is on 17 medications, which are expensive as the Jordans typically hit their insurance deductible mid-year. Richard works as a corporate real estate technology consultant but spends half his time working from home— which he’s made a priority with any job he’s taken since Joey was born in case Mary needs to travel with him to seek medical care. The arrangement allows Richard to stay home with their other children, Caitlin, 22, Connor, 14, and Patrick, 18, when those necessary medical trips do pop up.
When Bailey began taking cystagon, he struggled to keep the medication down. He still wouldn’t eat, so doctors put him on a breast cancer medication, which DeDio doesn’t recall the name of, that helped. Bailey also took growth hormones for a year and a half when his kidneys started failing rapidly.
Due to the health complications of cystinosis, Bailey’s reading level has suffered. DeDio, who works in sales, also must tend to her other son, 6-year-old Ryder, who suffers from severe ulcerative colitis, an inflammatory condition. DeDio said she’s always had to work twice as hard to keep her job due to all the time she’s taken off.
“It was a long road,” DeDio said. “[Bailey] didn’t stop vomiting until he was 13— it was constant. There were times when I was like, ‘I have to get to work and he has to get to school.’”
Today, Bailey takes 85 pills a day, which cost $55,000 a month.
‘It was huge for our community’
During the trial at Stanford, researchers observed that, in the 30 study participants, PROCYSBI helped prevent ulcers caused by cystagon, as well as reduce vomiting and the sulfuric smell that the drug secretes. The drug also needed to be taken only twice a day instead of four times a day, so it enabled families like Bailey’s and Joey’s to get more rest at night.
“In patients who are on the regular drug, the four-times-a-day drug (cystagon), they have tremendous amounts of family disruption because you have to give the drug every six hours around the clock,” Grimm said. “And if you think about it, for a lot of families that just can’t happen— if there’s a single-parent family or [they have] a lot of kids, or if the family isn’t very well off, or if mom and dad both work.”
“One of the things that have been reported from the long-term follow-up is the quality of life for these families and their kids is that it has improved,” he added.
Jordan, who saw Joey’s throwing up and ulcers subside, and his sleep improve with PROCYSBI, said the drug’s approval was “huge for our community.”
When the study concluded after six months, researchers gave the study participants’ families the option to switch back to cystagon or continue taking PROCYSBI, which would require them to take three days off every three months, and fly to Palo Alto for follow-up analyses, for an additional two and a half years.
“It was an imposition, so I think it’s really impressive that almost every single family except for one elected to continue taking cysteamine,” Grimm said.
Although the drug has helped delay organ failure for patients like Joey and Bailey, it doesn’t prevent it.
‘Everything happens for a reason’
When Joey turned 14, he went straight into kidney failure. Doctors initially thought his mother, Mary, would make a good fit as an organ donor, but with tests they determined Joey would need double the amount of anti-rejection medication if he took her organ. In April, the family received a call that doctors had identified a suitable cadaver kidney for him and performed the operation.
By the time Bailey’s kidney failure took a turn for the worse the following January, Joey was in fair condition, and doctors informed Jordan that she soon wouldn’t be able to donate her kidneys to anyone else because she was in her 50s.
“I went to the study, and Jessica was crying on my shoulder,” Jordan recalled. “I asked, ‘What’s his blood type?’ and said, ‘That’s my blood type,’ and said, ‘I’ll do it.’”
“We’re practicing Catholics, and I believe everything happens for a reason,” said Jordan, who added she filed the paperwork that day then underwent genetic and psychological testing to make sure she was a good fit.
DeDio said Jordan’s offer gave her goosebumps.
“I’m thinking in my head, I mean, ‘Joey’s just got a kidney, it could fail, and she’s really going to give me a kidney that she could donate to her own son?’” she recalled.
DeDio was cautious at first, not wanting to get her hopes up that Jordan, then 50, would be a match, but when she learned she was, she waited a couple of weeks to tell Bailey and surprise him for his 16th birthday.
“I know it meant the world to him,” DeDio said. “[Bailey] is really scared of cystinosis, and the transplant was the scariest part. And he was so relieved because the dialysis was so horrible.”
“I was shocked,” Dedio said, “and [Mary] did everything she said she was going to do … we went to see [her after surgery] and her face looked like an angel, as she’s vomiting into a bucket because she’s sick from the meds.”
Jordan, Joey and Bailey all had successful transplant surgeries.
Today, Jordan is healthy and both boys continue to cope with cystinosis. Among the dozens of drugs they take, they use PROCYSBI and apply cysteamine eye drops every hour to prevent light sensitivity and eventual blindness that would otherwise occur due to the crystals the disease causes in the corneas.
Joey sees Grimm every couple of months because the kidney transplant program at Stanford oversees his care. Bailey periodically sees Grimm at events for the Cystinosis Research Foundation, which DeDio is actively involved in and for which she holds fundraisers at local restaurants, as well as an annual dirt biking event where participants can ride, camp and donate via a raffle and silent auction. Last year, for the third annual fundraiser, DeDio raised $28,000, and this year, for the November event, she’s aiming to surpass $29,000. One hundred percent of the money DeDio has raised goes to the Cystinosis Research Foundation, she noted, which is seeking a cure for the disease.
Grimm said research in Australia and France, as well as at the University of California, Irvine, is underway to develop a more convenient means for applying cysteamine to the eye, in the form of either a gel-like substance in the eyelid or a nano wafer.
Beginning in 2016, Grimm will collaborate with researchers at the University of California, San Diego, to study whether stem cell therapy is successful at curing the disease.
“We’re not holding our breath, but we’re really hoping for it,” he said.
Grimm said that adding cystinosis to the various diseases that states decide to test for at birth could help prevent the need for kidney transplants in cystinosis patients. He said some children diagnosed at birth and in the womb who have started treatment within the first few weeks of life have seen fewer kidney problems than those diagnosed later on.
“I have one that has graduated from high school who has normal kidney function, so one of the interesting things we hope to see at one point in the future is adding cystinosis to the tests done on a bloodspot,” he said.
Bailey, whose quality of life has improved since getting his transplant and taking PROCYSBI, is preparing for his senior year of high school. When he grows up, he wants to be a dirt bike mechanic. He spends his free time fixing things like lawnmowers and dirt bikes, and enjoying his first truck, a Toyota, that he bought with his personal savings when he was 15.
Joey starts his freshman year at Sierra Junior College in September, where he’s aiming to get his associate’s degree in computer sciences then head to either the University of California’s San Francisco or Berkeley campus.
“If they keep taking their medications regularly, hopefully they’ll lead long, healthy and happy lives,” said Grimm, who noted that, like any young transplant patient, the boys will need at least one more kidney transplant within their lifetimes.
As for their first transplants, Grimm said that in the 30 years his practice has focused on pediatric kidney disease, he’s never seen anything like it.
“We’ve transplanted teachers to students and family friends to kids, and between members of a congregation,” he said. “I’ve had families who met in the waiting room and got to know each other, but actually donating a kidney to one family member to another? Nope, that’s got to be a first.”