VIDEO - Son living with rare disease, cystinosis

The father of a child with a rare metabolic disease walked 57 miles at Trap Pond State Park in Laurel to raise awareness and funds.

May 7 is Cystinosis Awareness Day, and 40-year-old Clinton Moore of Georgetown walked for 26 hours straight in honor of the occasion. His son, 13-year-old Chandler, was diagnosed with cystinosis at 10 months old. Moore is president of the Cystinosis Research Network, a nationwide nonprofit.

Moore auctioned a list of “demands” in exchange for donations. For example, he wore a diaper and sucked on a pacifier for one lap. For another, he donned a grass skirt and a coconut bikini top. It was all in good fun.

It was sunny and near 90 degrees when Moore started walking at Trap Pond May 12, around noon. He began with several companions that hoped to finish the walk with him, and a handful of people set up camp at a checkpoint to root him on.

Around 10 p.m. a storm rocked the area with torrential downpours, wind, lightning and thunder. Undeterred, Moore and company didn’t stop walking, though they did move under a pavilion.

A family member arrived at 1 a.m. and walked for a while, but eventually quit. Around 3 a.m., a teammate tapped out. Another followed shortly thereafter, and it was just Moore, the darkness and the trail.

Around 4 a.m., he felt himself close to collapse.

“It was a feeling I’ve never had before,” Moore said. “I really don’t know how to describe it.”

But he pushed on. The sun came up. Noon came and went. Around 2 p.m. Sunday, he completed the 57 miles. He went straight to his camper and slept for a few hours before driving home, showering and sleeping until the next morning.

“I’m still a little bit sore in my feet and ankles,” Moore said the following Wednesday. “I took off work Monday and Tuesday and caught up on sleep.”

Moore is self-employed as a masonry contractor, so “work” means digging holes, pouring concrete and laying bricks.

“I could have worked Tuesday, but I had a good reason to take off, so I did,” he said.

What is cystinosis?

According to the Cystinosis Research Network, there are only about 600 Americans with cystinosis, a rare, genetic metabolic disease. It causes the amino acid cystine to accumulate in various organs of the body. The kidneys and eyes are most affected, but the muscles, thyroid, pancreas and testes can also suffer.

The most severe type of the disease, which Chandler was diagnosed with, is nephropathic cystinosis. According to the U.S. Department of Health and Human Services, nephropathic cystinosis begins in infancy and causes renal Fanconi syndrome, in which the kidneys dispel essential nutrients in urine rather than distributing them into the bloodstream.

Without treatment, cystinosis patients suffer from muscle deterioration, blindness, inability to swallow, diabetes, thyroid and nervous system issues, male infertility and, at 9 years old, end-stage kidney failure.

However, thanks to modern medical treatment, cystinosis patients can now lead productive lives and live into adulthood.

Treatment compliance is especially important. When treatment was first developed in the ‘60s, the side effects were especially bad, leading many to take the medicine less often than recommended. That led to decreased success. These days, the drugs have been improved to the point that compliance is much easier.

There’s still plenty of room for more advanced treatments, though – or better yet, a cure.

Government funding is hard to come by, which is where the Cystinosis Research Network comes in. CRN focuses heavily on family support, advocacy and education. Moore became involved with the nonprofit around four years ago, and was eventually asked to join the board of directors. From there he was promoted to vice president of family support, and in July 2017, became president.

According to Moore, research involving stem cells has cured cystinosis in mice. However, stem cell treatments are extremely risky and come with a high chance of infection. Those treatments need to be improved upon before they can be tested on humans.

Chandler’s story

Chandler’s first and only symptom, as an infant, was severe thirst.

“I’d never seen anything like it,” Moore said. “He’d scream and reach for the faucet.”

Moore and his wife, Annie, suspected juvenile diabetes, but when they took him to the pediatrician for bloodwork they were immediately sent to Alfred I. duPont Hospital for Children.

“They did labs and nothing in his bloodwork was anywhere close to what it should have been,” he said.

The family spent nine days there while doctors attempted to diagnose Chandler. It only took a few hours for them to conclude he had renal Fanconi syndrome, which can be caused by about 100 different diseases. It took a trip to Philadelphia, where doctors drew and shipped Chandler’s blood to San Diego, to find out it was cystinosis.

Chandler was prescribed cysteamine bitartrate, or Cystagon, to prevent cystine from building up in his organs. Cystagon has to be taken every six hours around the clock, including in the middle of the night. Chandler also takes eyedrops during every waking hour to prevent cystine buildup in his eyes, which don’t respond to the pill.

On top of that, Chandler takes seven different kinds of supplements multiple times per day. With cystinosis, the kidneys release important nutrients like phosphorus, vitamin D and potassium in the urine. Supplements are necessary to counteract the loss.

“When we eat a banana our bodies absorb most of the potassium,” Moore said. “His does not. His kidneys allow all that stuff to be spilled into his urine.”

Fortunately, Delaware Medicaid covers the costs of Chandler’s medications, treatments and doctor’s appointments.

Overcoming complications

Despite treatment, Chandler has suffered from certain complications. The first problem he experienced was rickets, which is common with cystinosis and easily treated. But Chandler also experienced a rare side effect – the inability to empty his bladder.

“He developed severe bladder issues,” Moore said. “He drinks about five liters of water a day, so his bladder got stretched out and kind of lazy. He didn’t lose the ability to urinate, but he lost the ability completely empty his bladder.”

That resulted in frequent catheterizations, which was, of course, horrific for Chandler. Eventually, the Moores opted for a surgery called the Mitrofanoff procedure.

“They remove your appendix and use it to create a channel from your belly button directly to your bladder, so he can catheterize himself with no feeling,” Moore said.

He only knows of two other cystinosis patients that have ever required a catheter at all, and has never found another cystinosis patient that required a Mitrofanoff procedure.

Despite that, the surgery, combined with the medications, has helped Chandler to live a normal life.

“He’s definitely focused on being a kid,” Moore said. “But I’ve been trying to teach him about compliance and how important it is. He’s becoming more responsible with it and I think he knows more than he lets on.”

The life expectancy of a modern cystinosis patient is largely unknown. Since until recently it was hard to find anyone who had been completely compliant with treatment, there are no accurate statistics available on lifespan. Moore knows of one man who has complied with treatment that recently turned 50.

Regardless, Chandler is expected to need a kidney transplant around age 20, and again when those kidneys fail.

“With the drugs we have now and with new technology,” Moore said, “I’m hopeful he can live a long and healthy life.”

Find out more about cystinosis and the Cystinosis Research Network at cystinosis.org.