Every night Nicole Carlos' heart raced. She'd wake up in the middle of the night covered in sweat, terrified and thinking the worst. But the nightmares she faced did not occur in her sleep, but when she woke.
Panic attacks weren't anything new to Nicole Carlos— she'd been battling them for about 15 years. But after learning she had the same chronic, lethal liver condition that was killing her father, they hit harder than ever before.
"I had panic attacks every night for three months after receiving my diagnosis," Nicole says. She desperately needed help.
Nicole never suspected she had a liver disease. Why would she? She was healthy, active and only 28 years old at the time. What's more, she never had any symptoms. But then a routine liver function test by a Mayo Clinic alumnus working with Nicole in Atlanta revealed troubling signs that suggested early stages of primary sclerosing cholangitis (PSC).
Nicole knew how serious liver disease was — her father was in need of a transplant to treat the same condition. Soon she was on her way to Mayo Clinic in Rochester, Minnesota.
Doctors at Mayo Clinic are arguably the world's experts in PSC. Over the last three decades, they have published more than 500 manuscripts, generated more than $15 million in research funding, conducted more than 30 clinical trials and cared for more than 3,000 patients with PSC.
PSC is a disease of the bile ducts, which carry the digestive liquid bile from the liver to the small intestine. Inflammation from the disease causes scars within the bile ducts. These scars make the ducts hard and narrow, obstructing the flow of bile from the liver to the intestine. The bile backs up into the liver, gradually causing serious liver damage.
Usually the disease progresses slowly, but it often leads to liver failure, repeated infections and tumors of the bile duct or liver. A liver transplant is the only known cure.
Unfortunately, Mayo Clinic doctors confirmed Nicole had the disease. But fortunately, they caught it early, allowing them to develop an aggressive treatment plan that should delay transplant for a few decades.
'Immediately she jumped in'
For the first couple of years following her diagnosis, Nicole's doctors kept a close watch on her while developing a fuller understanding of all her medical conditions. For instance, when the Mayo Clinic Center for Individualized Medicine's Pharmacogenomics Program developed a test to measure how a person's genetic makeup metabolizes drugs, Konstantinos N. Lazaridis, M.D., suggested Nicole be the first to receive it after recognizing that her anxiety medication might not be helping her manage her panic attacks.
"We were talking about the importance of precision medicine when I mentioned to her that we now had a clinical test that can assess nine genes to identify a blueprint of how people metabolize medications," says Dr. Lazaridis, the Everett J. and Jane M. Hauck Associate Director, Center for Individualized Medicine, Mayo Clinic in Rochester and the William O. Lund, Jr. and Natalie C. Lund Director of Clinomics. "Immediately Nicole jumped in and said she wanted to know about whether the test could help her understand if some of her symptoms were due to her medication."
Nicole was the first patient to receive testing from the new service. It turns out, she was metabolizing her anti-anxiety medication too quickly to be effective despite taking the drug for over 10 years to manage her symptoms.
"I was like, 'You're kidding. This drug I've been on for years doesn't do anything for me because I'm an ultra-rapid metabolizer?' " she says. The test also gave Nicole and her doctors information they can use to adjust the dose of other medications she may need in the future.
Finding a passion, giving back
To help Nicole manage her panic attacks, doctors developed a medical treatment plan based on her genetic information. The next month was hard for Nicole to endure, who not only had to wean herself off of one medication before beginning the next but also had to deal with the death of her father, who passed away in 2015 after complications from a liver transplant in Atlanta.
"My dad needed serious help because he was at end-stage liver disease," she says. "That's when I really decided I wanted to donate so much to PSC, and that was going to be my calling and my passion for such a rare disease that nobody knows about."
As Nicole's new medication began to work and her panic attacks faded — "It's the best-case scenario it could be for everything I went through" — she began to concentrate on turning her experiences into something positive.
She and her husband, Chris, established a fund at Mayo Clinic that supports platforms such as genomics and microbiome research, which leverage the nation's largest collection of biological samples from patients with PSC. The fund helps researchers explore new directions of basic research into how PSC forms, including the role played by epithelial cells lining the bile ducts.
"Nicole is a tireless advocate for PSC research and a true friend to Mayo Clinic," says Gregory J. Gores, M.D. the Mr. and Mrs. Ronald F. Kinney Executive Dean for Research Honoring Ronald F. Kinney, Jr. and the Reuben R. Eisenberg Professor. "Nicole and Chris' gift accelerates our work in this rare disease and helps us address a multitude of unmet patient questions including, 'Why do people get PSC? What causes PSC? And, what can we do to prevent and treat PSC?' "
With the Carlos' help, Mayo Clinic researchers are launching a clinical trial with obeticholic acid, a semisynthetic bile acid that has the potential to decrease the production of bile acids in the human body. If successful, the effect could become a novel therapy for PSC.
"I knew the minute I walked in to Mayo in Rochester, I was in the right place," she says. "It's something that came across me — this is it, this is where I'm supposed to be. It's just this feeling that comes over you, and it's like nowhere I've ever been before in my entire life. I felt safer in their hands than in any other doctor's."
Nicole Carlos is changing lives through her family's support to combat a rare disease. Join our efforts to eradicate all diseases.
Jan. 18, 2017