By Chiung-Wei Huang
When I arrived in North Carolina from Taiwan six years ago for my doctoral research, my new life chapter started in the UNC-Chapel Hill chemistry building, where many laboratories and finely calibrated instruments are located.
I joined a research team to study advancements in semiconductor technology.
Earl Ritchie was the researcher in my graduate program who I often turned to when I needed help talking through some of the science and learning techniques that our research group was doing.
I am 36 years old, seven years older than Ritchie, but I rarely notice the age gap when working with him, especially when we talk about science and our life as scientists.
Age, however, creeps into Ritchie’s mind as he toggles both sides of the research spectrum, as a scientist and a patient relying on advances in science to keep him healthy.
Ritchie was diagnosed with cystic fibrosis (CF) when he was 2 years old. He is among more than 30,000 children and adults in the United States afflicted with this genetic disease.
Sky is the limit
Cystic fibrosis is an inherited lung and digestive disorder that causes sweat glands, tear ducts and other glands in the body to produce thicker and stickier secretions. The most devastating effects happen in the lungs where those sticky secretions make breathing more difficult.
The disease also affects the digestive system, where it restricts the production of enzymes that help to break down food and that allow the body to absorb nutrients.
When Ritchie was just a toddler, health care workers at the Medical University of South Carolina in Charleston made the diagnosis of cystic fibrosis.
Life expectancy of babies born with CF when Ritchie was first diagnosed was predicted to be 31 years old, according to the Cystic Fibrosis Foundation, a non-profit organization advocating for CF health and care.
Now, more than two decades later, the improved medicines and development of gene therapy have pushed CF life expectancy to 46 years old. But there’s still no cure.
Ritchie turned 29 in May, a few weeks before he finished his doctoral degree.
When it comes to pursuing a doctoral degree and career in science, Ritchie decided he would not focus too much on any obstacles that CF might put in his path and instead consider an unlimited future.
“I made my decision trying not to factor life expectancy into the calculus,” he said. “Focusing on life expectancy will mess with your head. Don’t calculate it.”
Fix what’s missing
Like many CF patients, Ritchie’s health and life quality are linked to the search for CF therapies.
The variations in gene mutations often make treating CF difficult. One medicine that can target specific mutations in some patients might not work for others.
Accumulated mucus in the pancreas of CF patients can prevent the release of digestive enzymes. That can cause malnutrition and poor growth.
While in North Carolina, Ritchie sought health care and personalized medicines with his CF care team at the University of North Carolina Adult Cystic Fibrosis Center in Chapel Hill.
Ritchie’s care team hooked him up to a RELiZORB treatment in which a digestive enzyme is released through a cartridge that can be connected to a feeding tube. The setup mimics the pancreatic function that breaks down fats into absorbable ones, improving his digestion and nutrition.
Weight gain is good
Getting adequate nutrition is a common challenge for CF patients.
Sometimes patients have to supplement their natural intake of food with tube feedings using an opening from the skin that goes straight to the stomach where the tube delivers nutrition directly.
How often that occurs depends on each person’s needs.
“My doctor says aim for five nights a week,” Ritchie said. “The idea is to make sure that you have enough fat on your body. It’s also like a nice little energy reserve when you get sick.”
There are also many enzyme pills for people with CF to help them digest essential ingredients such as fats.
The enzyme pills often cause other health problems, though. Ritchie struggles with stomach cramps and nausea from taking them.
“Any bit of coughing can blow your stomach and make you nauseous,” he said.
Working well
Ritchie started taking RELiZORB in 2018 and the treatment worked well. His body mass index (BMI), an important metric to measure health, has increased over the course of one and half years using the therapy.
“I noticed the BMI increase in a few months,” he said.
RELiZORB, “drastically reduces the number of enzyme pills I have to take,” he added. The fewer enzyme medicines he takes lessens the chances of severe cramps and nausea.
His sleep quality improves too. “It keeps me from having to wake up in the middle of the night to take the pills,” he said.
To cover the cost of the therapy, Ritchie and his care team had to put up a fight with his health insurance company, BlueCross and BlueShield of North Carolina (Blue Cross NC).
Initially, Ritchie was able to access the product through funding the manufacturer set up to help people afford the treatment, but that funding ended in 2020 for him. That’s when he turned to Blue Cross NC, the insurance plan that UNC-Chapel Hill offers its graduate students.
“The UNC plan is pretty good. Basically, everything I need is covered,” Ritchie said.
Except, the insurer had a problem with RELiZORB because it’s described as experimental. So, the insurer did not agree to pay for the therapy.
Ritchie appealed the decision.
“RELiZORB was designated as a research medicine,” he added. “They basically said that BlueCross BlueShield didn’t believe there were enough peer-reviewed studies saying that it’s effective.”
Several research studies confirmed the effectiveness of RELiZORB after the FDA’s approval for children and teenagers, including the ones indicated on Alcresta Therapeutics, the maker of RELiZORB.
Self advocacy needed
More and more health care providers are encouraging people with CF to advocate for reimbursements from insurers for use of the RELiZORB pumps. A group of medical experts raised the issue in an editorial published in the Journal of Cystic Fibrosis in 2019.
The cartridge was evaluated initially as a device and not a drug, according to the authors of the editorial, “thus the type of randomized, placebo-controlled trials used for drug approval were never done. Assuring patient safety and being a good steward of resources are part of a physician’s duty.”
They noted that during the three years the device had been used, nearly 2,000 patients had used more than 725,000 cartridges without any medical device reports or adverse events reported to the FDA.
They called the device, “a rational alternative to the historical but illogical current standard of care.”
“A new, effective tool is tantalizingly within reach and we call on insurance providers to make it possible for us to use it.”
Aiming high
Ritchie is no stranger to insurance and health care challenges. He keeps a stockpile of his prescriptions in a big plastic container, he said, just in case “the insurance company decides not to cover something, or I have a doctor issue.”
As his coworker, I sometimes walked into the office and came upon him talking on the phone. The conversation was sometimes about making a doctor’s appointment, other times he was grappling with insurance.
Dealing with BlueCross and BlueShield, North Carolina’s largest insurer, took stamina.
“So many people were having issues with insurance and this medicine,” Ritchie said. “The manufacturer actually hired people specifically to coordinate with insurance companies and get it approved for as many people as possible.”
With the help of a social worker from Alcresta Therapeutics, which produces RELiZORB, and his CF care team, which wrote doctor’s letters, Ritchie submitted his first request to Blue Cross NC in April 2020.
“All the people that work in the CF clinic, the dietician, pharmacist, and nurses, they can spend way more time helping patients if they didn’t have to constantly fight with insurance companies,” he added.
The appeal went through round after round of responses and paperwork.
“They sent me the denial, and I appealed it once,” Richie said. “They did not approve, and I appealed it again.
“They kept saying that our doctors have looked at this and it’s not necessary.”
In all, the appeals took almost a year.
With three denials returned, Ritchie appealed to the NC Department of Insurance.
The result came back earlier this year, and Ritchie won his appeal. Ritchie’s relentlessness paved the way for other North Carolinians with CF on the Blue Cross NC health plan to be reimbursed for using RELiZORB.
“As part of an annual review process that includes licensed physicians both employed by and independent of Blue Cross NC, Blue Cross NC has made updates to its Enteral Nutrition Corporate Medical Policy,” Jami Sowers, Blue Cross NC’s communications specialist, responded to an email request.
The policy to “support coverage of Relizorb when a patient diagnosed with cystic fibrosis meets specific criteria” became effective on July 13, 2021.
Best of both worlds
I marvel at how Ritchie was able to, uncompromisingly, juggle being a patient while also being a scientist.
“There are just a lot of emotions around you,” he said.
Some weeks, I would find no trace of Ritchie in the laboratory, only to find out he had been sick and away. He always returned with high spirits and ready to get back into the research.
“What got me into science was one of the bacteria in my lungs became drug resistant,” Ritchie said. “I got very into antibiotic chemistry. I chose chemistry because I wanted to do it.”
In nine months, Ritchie will be 30 years old, about the predicted life expectancy that his doctor gave him when he was young.
“Once I got into the grind of grad school, that’s when I really started to think about life expectancy,” he said.
Thoughts like, “Is it worth it? Am I using my time rationally?” often popped into his mind.
“I just want to live a good life,” he said. “I want to have friends, to eat good food. I want to go to concerts, to enjoy my time and do cool research.”
Déjà vu in a new state?
Ritchie is now based in Oregon starting a new job as a process engineer for a high-tech company.
Whether he can continue to get RELiZORB depends on his new company’s health insurance options.
If the insurance provider tries not to reimburse him and his health care team for the therapy, Ritchie might find another pile of paperwork ahead. Only this time, he knows what’s ahead.
“There is a good chance I’m going to need to do this again in Oregon,” Ritchie said.
Correction: This story has been updated to note Ritchie’s DOI appeal lead to his being able to have RELiZORB covered by Blue Cross NC. Subsequently, Blue Cross NC made an independent decision to cover the drug for other patients.
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