Cystinosis Kids Are Living Time Bombs Without Meds

March 9, 2012—, 2012 -- For most of their young lives, Jenna and Patrick Partington have lived by the alarm clock -- seven foul-tasting pills at 7 a.m., then again at 11 a.m., 7 p.m. and 11 p.m. If they are a little late or miss a dose, their bodies turn into time bombs, destroying every organ.

The 7-year-old twins from Sacramento, Calif., were born with cystinosis, a rare genetic disease that causes an amino acid, cystine, to accumulate in every cell of the body, damaging the kidneys, eyes, liver, muscles, pancreas, brain and white blood cells.

The only treatment is the drug Cystagon, which must be taken every six hours without fail, otherwise cystene dangerously accumulates in the body.

Without it, the average child will die of end-stage kidney failure by age 9. And even with treatment, many only live into their 20s and 30s.

"We take it day by day," said their father, Kevin Partington, 43, who works in commercial real estate. "I look at their pictures and they don't look that wildly different from their classmates. But the disease takes hold over a period of time."

Only about 300 to 500 patients in the United States have cystinosis -- about 2,000 worldwide, according to the Cystinosis Research Foundation (CRF). Because it is a so-called "orphan disease," there is little financial incentive for pharmaceutical companies to find better treatments or a cure.

But today, the twins are among 41 patients who were part of phase-three clinical trials for a new formulation of the active ingredient in Cystagon that is time-released.

Raptor Pharmaceuticals will file with the Food and Drug Administration for fast-track approval of a new drug, RP103, this month. It could reach the market by the end of the year.

Patients can take the medicine every 12 hours instead of every six, no longer disrupting sleep and school.

It also has fewer side effects like nausea and gastric discomfort, because the medicine bypasses the stomach and goes directly into the duodenum.

"There's also more of a fudge factor," said Partington. "Before I would set the alarm for 1 and 7 and it beeped off and we were like Pavlov's dog. Now, it's breakfast and dinner time."

The CRF approached Raptor about marketing the drug, which was being developed at University of California, San Diego, to lengthen the time between drug doses. Scientists have seen a direct correlation between the difficult medication regimen and patient health outcomes.

"I was at a research meeting with a parent panel and they talk about the strategy around dosing meds," said Patrick Reichenberger, vice president of commercial operations for Raptor.

"Sunday night they have the syringes, the baggies, the day, the time mapped out for the whole week. I saw a table of the logistics. It's no wonder people miss doses because of the complexity."

Patients in the cystinosis clincial trials have reported less nausea, an increase in appetite and higher energy levels because they were not woken in the night. "Sleep deprivation is huge in growing kids," Reichenberger said.

The new drug is coated so it doesn't dissolve in the acidic environment of the stomach, but further in the intestinal tract.

RP103 is not a cure, but promising research is on the horizon. Stem cell and gene therapy are "the biggest source of our optimism," said Partington, the twins' father.

Diagnosis of the rare disease is one of the biggest challenges, according to Partington, because so few doctors have seen patients with the disease.

The twins were born on Dec. 7, 2004, slightly premature, but seemingly healthy. When they were around 6 or 7 months old, the babies began to drink "tons of water" and throw up.

"I've been around kids my whole life, and there is a difference between spitting up milk and a kid that looks like he's from the Exorcist," he said.

Cystinosis Diagnosis Rare in Both Twins

Despite drinking constantly, their bowel movements were hard as golf balls and "actually hurt coming out," he said.

"We knew something wasn't right," said Partington.

The first clues came when Jenna went into the hospital for a severe flu. She was kept for two weeks, spending half the time in the pediatric intensive care unit. Her body had begun to cramp up with dehydration.

"I was changing her diaper and every time I pulled her legs down, she started crying," he said. "The doctor said she was a medical marvel -- he couldn't figure it out."

The diagnosis of cystinosis was finally made in March 2006 by geneticists at Scripps Institute in San Diego, where much of the research on the disease is taking place.

Patrick's diagnosis followed after doctors tested for white blood cell cystine counts.

Both Partington and his wife Teresa carry a recessive gene for the disease. The twins are fraternal, so each independently has a 1 in 4 chance of inheriting both genes.

Odds were so rare of both children getting both genes, "We should've purchased a lotto ticket that day," said their mother Teresa Partington, 39, who has since dedicated her life to research and education through Jenna & Patrick's Foundation of Hope

Recently, she talked to the twins' classmates when Jenna said children had said her breath was bad. The medicine causes a rotten egg sulfphur smell which emits from every pore.

"I felt that enlightening the class would make a difference because I believe children, given the opportunity, can grow to understand some of life's most complicated situations," said their mother.

Somehow, their children adapt to their treatment regimen. "The kids haven't known anything different," said Kevin Partington. "It's not perfect, but it's not as overwhelming as it was in the beginning. It's a routine as a family."

In addition to seven pills twice a day, they down a pomegranate-like cocktail of polycitric acid, iron, calcium, iron and vitamin K, among other ingredients. "It's terrible tasting," according to Partington. "But they shoot that down and go off to school."

All day, they drink water and take bathroom trips every 35 minutes. Before bed, they repeat the routine and though they don't have to be woken for another pill now, they are up to use toilet.

"Usually, they pee a lot in their sleep and we have to change them," he said. "If we woke them up every time, they wouldn't sleep. Their beds are wet every morning."

Patrick was found to have high cholesterol and so both children are now on statins, which their parents fear can cause memory loss.

As it is, they struggle with spatial and visual deficits, which are part of the disease. Since starting school, they are showing some dyslexia.

"Physically, they are not as vital as other kids," said their father.

"Hydration is a big problem and in Sacramento when it gets to 100 degrees...they don't sweat," he said. "Sports like soccer are not an option -- they'd wilt like flowers. But they are able to keep up."

The biggest challenge is psychological.

"It's really hard for us -- they are our only two kids," said Partington. "We can't compare to other kids we've raised.

"We don't know when they're not doing their homework if they don't get it like any other kid, or because of the cystinosis. Or are they just being precocious 7-year-olds playing their mom and dad. There are so few cases out there to share those ideas with."

But his wife says, raising their twins, despite the odds, is "ultimately rewarding."

"We strive to teach our kids and those around us that a person can rise above just about anything by treasuring what's important and doing good," she said. "I would choose happy kids over healthy, though I never imagined I would have to make such a choice."

For more information or to help go to Jenna & Patrick's Foundation of Hope or the Cystinosis Research Foundation