Identical Minn. twins battle disease that afflicts only 500 in the U.S
DULUTH, Minn.—Identical twins Jana and Sara Healy share more than petite builds, reddish-blond hair, a love of artistic expression and careers as cooks.
The 33-year-old sisters also share an organ-destroying disease that they have in common with only about 500 people in the United States.
It's a lonely thing to share.
"Nobody here has heard of cystinosis," said Sara, who lives with her boyfriend in Duluth and cooks at the Benedictine Health Center. "Nobody in Fargo knew about cystinosis," she said of the North Dakota city where Jana lives and cooks at a federally supported day care.
Certainly their parents, Jane and Dennis Healy of Williston, N.D., knew nothing of cystinosis as they saw their sixth and seventh children's development virtually stop by the time they were 1.
"They were 22 pounds and thriving and doing a real good job," recalled Dennis, a retired teacher and coach, in a telephone interview from Williston. "All of the sudden, they just threw the bottles out. ... They didn't want to eat anything."
Doctors advised them to give the girls Vitamin D and milk, he said, but it didn't seem to help.
When the time came that Jana couldn't stand, the Healys decided they needed to take more action. They brought the twins to a hospital in the state capital of Bismarck, where they were advised to see specialists either in Omaha, Neb., or Minneapolis.
They chose Minneapolis, where they had family connections.
At the University of Minnesota Children's Hospital, the doctors told them there are 2,500 kidney diseases, and the only one they needed to worry about was cystinosis, Dennis recalled.
Because Jana was too sick to handle it, Sara underwent a battery of tests, Dennis said.
The result was cystinosis.
The disease attacks the human organs, starting with the kidneys. Without treatment, the girls likely would experience kidney failure by the time they were 9, the Healys were told. But there was no cure, and no treatment.
However, a young fellow at the U of M, Dr. Thomas Wells, took an interest in the twins' case. Wells, now a pediatric nephrologist at Arkansas Children's Hospital and a professor at the University of Arkansas College of Medicine, eventually learned of a clinical study underway at the University of California, San Diego. The Healys were able to get their daughters enrolled in the study.
"That clinical study probably saved our lives," Sara said. "We could get somewhat healthier and get on a normal routine."
The drug being tried, Cystagon, later was approved by the Food and Drug Administration for treatment of cystinosis.
Four years ago, the FDA approved Procysbi, which Sara now takes instead of Cystagon. The newer drug only has to be taken twice a day instead of four times, she said, and it doesn't come with the unpleasant side effects of Cystagon — bad breath and body odor.
But Procysbi comes at an exorbitant price: $250,000 a year, Sara said. Her insurance plan is covering it, at least for now.
Their mother, a lab technician, was constantly doing battle with insurance companies as they grew up, Sara said, particularly when coverage could be denied for pre-existing conditions.
The struggle continues.
"Fighting with insurance, it's an ongoing thing," Sara said. "They don't want people with rare diseases on their insurance because that's going to cost them too much money."
'NOT WHO WE ARE'
As the girls grew up, their normal routine didn't match those of their schoolmates. They tired easily and weren't able to participate in sports, Sara said.
They both sang in choir. Sara continues to enjoy singing, particularly karaoke. Jana's outlet is oil painting.
But they still felt isolated in their school. So they decided to do a presentation about their disease to their high school classmates "to help them understand that this disease, it's not our life," Jana said in a telephone interview. "It's not who we are."
The attempt backfired.
"They took it the wrong way," Jana said. "They kind of twisted the facts, and they somehow thought that we were going to die."
Although it wasn't as dire as that, it was true that the twins were — and are — afflicted with a progressive and incurable disease. Four years ago, Jana received a kidney transplant; older sister Jennifer was the donor. Jana said she's thankful that her original kidneys functioned as long as they did.
"Most people our age (with cystinosis) have had at least one or two kidney transplants by now," Jana said.
Sara has been on the list for a kidney transplant for two years, with no living donor currently available. She was told to expect a wait of three to five years, Sara said, and she's hopeful that will happen before she requires dialysis.
Both take eye drops for a condition related to cystinosis. Jana is recovering from a bout with double vision with the help of a change in her medication, she said.
Meanwhile, the twins still felt alone with their disease. "We grew up thinking we were very rare and the only one of a kind, especially in North Dakota," Jana said.
A few years ago, they took to the internet and discovered the Illinois-based Cystinosis Research Network, which led them to a patient support group.
"To meet all those ... people our own age and younger kids and adults and some who are parents with cystinosis, it really brings up your hope," Jana said. "It really cheers you up to know that you're not alone."
It also led them to become politically involved in the cause of promoting research into rare diseases. Late last month, Sara traveled to Washington to meet with other advocates and congressional representatives during Rare Disease Week. Jana was unable to attend, she said, because her eye problems had caused her to lose too much work time. Instead, Dennis went with his daughter, advocating on behalf of North Dakota while Sara advocated on behalf of Minnesota.
Sara came back energized about the issues presented in Washington. She's particularly speaking out on behalf of the OPEN Act, which was introduced in 2015 by Sens. Amy Klobuchar, D-Minn., and Orrin Hatch, R-Utah, to provide incentives to pharmaceutical companies to "repurpose" previously approved drugs for the treatment of rare diseases.
The legislation is vital, Sara said, because 95 percent of rare diseases have no FDA-approved treatment, and developing new drugs is extremely expensive and time-consuming.
And although each of the particular diseases is rare, being afflicted with a rare disease isn't uncommon. More than 30 million Americans — one in 10 — are affected by one of more than 7,000 rare disorders, according to Washington-based Rare Disease Legislative Advocates. The group defines a rare disease as one afflicting fewer than 200,000 people in the U.S. An "ultra-rare" disease, such as cystinosis, affects fewer than 6,000 people.
Sara also advocates increased funding for the National Institutes of Health, which is targeted for a nearly 20-percent cut in President Donald Trump's proposed budget.
"They do a lot of clinical trials and the clinical research to help find treatments for these rare diseases," Sara said. "They can't help if they don't get the funding."
The twins' mother Jane, now retired, said she knows that being able to enroll her daughters in the clinical trial made all the difference.
"Thank God they had a medicine they were working on," Jane said. "Most of these rare diseases, there isn't anything."
But according to Jane, another factor has allowed her daughters to persevere as well as they have.
"These girls have had to battle and battle and battle," she said. "They're tough little cookies. They take it in stride."