By all appearances, Chris Raymond appears to lead a normal life. He’s a 37-year-old Charlotte native who works in sales and is happily married to wife Kara, and the couple have twin 4-year-olds – Luke and Lexie – that keep them plenty busy. Their life is one full of love, laughs and happiness. But the Raymond's road home wasn’t always paved with fresh asphalt.
That’s because Chris is one of about 30,000 Americans living with cystic fibrosis (CF). And what does that mean, exactly? The Cystic Fibrosis Foundation defines it as “a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. In people with CF, a defective gene causes a thick, sticky buildup of mucus in the lungs, pancreas and other organs. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage, and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients.”
Growing up with Cystic Fibrosis
Many who have heard of CF may recognize some of the symptoms of the disease affiliated with the lungs – persistent coughing with phlegm, lung infections, pneumonia, chronic bronchitis, wheezing or shortness of breath.
“Those with CF who suffer from lung problems are often diagnosed at a very young age and can have chronic lung infections that are impossible to completely eradicate from the lungs,” says Daniel K. Howard, MD, Chris’ physician at Atrium Health. “The impact that CF has on the lungs tends to be the most disabling, the most life-threatening, and ultimately the most common life-shortening part of the disease.”
What many may not have heard about as much are the gastrointestinal issues that cystic fibrosis can inflict upon those with the disease – malnourishment in young children, poor weight gain, poor growth, constipation and diarrhea, abdominal pain, bowel obstruction and other digestive issues can manifest from CF. Dr. Howard said most CF patients suffer from GI issues in addition to the pulmonary issues, but the GI issues tend to be less life-threatening.
After a myriad of tests and doctor visits, Chris was diagnosed with cystic fibrosis at age 12. As most diagnoses are caught shortly after birth or within the first 10 years of life, this later diagnosis was a shock for Chris and his family. Twenty-five years ago, a lot less was known about cystic fibrosis, and that’s part of the reason it took some time for Chris’ diagnosis. Chris was more fortunate than others in that his CF mutation didn’t affect his lungs and airways as much as it does most others with CF.
“It was definitely a scary time. There was not as much research done on CF as there is today so it was kind of an unknown,” Chris said in the time shortly after being diagnosed. “There were only very primitive treatments and basically no medications to help. The life expectancy for CF patients at that time was in their early 20s and there was always the fear of missing out on a future. As with anybody who is diagnosed with a terminal illness, it is very scary at first but then you realize that there is nothing you can do to change that and you have to make the most of it and not let the disease define you or take over your life.”
“The Quarterback for Patients’
Dr. Howard is the specialty medical director for the Respiratory Health Service Line within the Carolinas HealthCare System Medical Group, as well as the medical director of pulmonary rehabilitation at Carolinas HealthCare System SouthPark and Carolinas HealthCare System Pineville – as well as co-medical director of the adult cystic fibrosis clinic. When he to helped start an adult CF center during fellowship training in St. Louis, MO, the average life expectancy of CF patients was in the mid-20's. When he moved to Charlotte, he continued his work with CF patients – working with area pediatricians to determine which patients might be ready to transition to an adult CF treatment system.
Each patient with CF is different due to the many different gene mutations that cause CF. Unfortunately, the health for most worsens over time and the disease can be unpredictable in how it advances. Dr. Howard works to determine how CF affects patients as they age and determines the appropriate course of treatment for these patients. He must appropriately determine how to replace digestive enzymes because of how CF affects the pancreas, which antibiotics to prescribe to help fight off chronic lung infections, and which respiratory therapies (bronchodilators and mucolytic therapies) would be the most effective. Despite the therapeutic complexities and uncertainties, patients began living longer and fuller lives. As patients’ conditions began to improve and their live were extended, they were faced with new challenges.
Breaking Through
Over the last three decades with help spurred by the work of the Cystic Fibrosis Foundation, countless researchers, physicians, clinical staff, patients and their families, new therapies and treatments were developed.
Chris points out that “over the past decade, there have been huge advancements in CF care, treatments and medications. For being such an orphan disease that affects such a small population, the groundbreaking research that has been spurred by the CF Foundation is amazing. I have been taking the first breakthrough medication, Kalydeco, which treats the underlying cause of CF for certain mutations for about 5 years now. I am very fortunate to be one of the lucky ones that are able to take this.”
In addition to the drug, Chris also takes four enzymes every time he eats and a daily dose of vitamins A, D, E and K to help his body digest food properly – about 30 pills a day in all.
But the success in developing new drugs, medications and therapies led to new, somewhat unforeseen challenges.
For many patients with CF, they had seen the life expectancy numbers. They had heard about the averages and likely knew other CF patients who had died from the disease. They had lived their entire lives with an expiration date attached to them – or at least, that’s what they had thought. And many families had fought to protect their son or daughter from hearing or buying into this kind of thought process. But what happens when you start to improve? When you’re stable enough to live independently? When you can attend college or get a job or have an adult relationship? These were new boundaries that Dr. Howard’s patients were surpassing every day. And it helped shape the type of care that CF patients get today – center-based care that approaches the patient holistically to support them physically, emotionally, spiritually and intellectually.
“The one thing that almost all of my patients have that impresses me and inspires me is they all have a fight within them against this disease. They have an almost unquenchable spirit to battle this disease,” Dr. Howard said.
Familial Challenges
Unfortunately for men with cystic fibrosis, 99.9 percent of them are infertile. The disease prevents a man’s sperm from passing from the testes to the urethra. Many boys receive this news when they are boys and have had time to speak with a genetic counselor and process their thoughts on this. But thankfully, that’s not where the story ends.
There is a way – through urologic procedures, that allows men with CF to father children using in vitro fertilization (IVF). But since CF is a hereditary disease, the chance of passing it along to your children is very real. When two people are carriers of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation, they have a 1:4 of having a child with the disease. When one of those parents has CF and the other one is a carrier, that rate doubles to 50 percent.
“With CF, it is always scary to plan for the future because you never know what the future holds for you. It was definitely challenging to start a family,” Chris said. “But through IVF, Kara’s determination, optimism and support, we were able to have boy/girl twins (Luke and Lexie), which was something I thought I may never get the opportunity to do.”
Both Chris and Dr. Howard can point to Chris’ commitment to stay in top physical shape as one of the reasons Chris has been able to live with the disease and experience as few complications as possible.
“My doctors put me on an exercise regimen shortly after I was diagnosed and I have stuck with exercise ever since as my main treatment plan,” Chris said. “Dr. Howard and his staff have been amazing. I never feel like a number when I’m there. I always get dedicated service and information that is specific to my case and the feeling that they truly care about me. That is very hard to find nowadays.”
“Chris is an extraordinary example of a patient who exercises regularly, sustains his health and pays attention to his physical wellbeing,” Dr. Howard said, while also noting that his positive attitude plays a crucial factor in his care. “How can you meet someone like Chris and not be impressed?”
The Future Looks Bright
Dr. Howard estimates about 300 patients (adult and children) are living with CF in the greater Charlotte area – with his office treating about 50 of the adult patients – a number that’s sure to grow as outcomes improve. If the past is a good predictor of the future, Dr. Howard believes we could see at least another 15-year improvement in longevity of patients with CF within the next two decades.
“There has really been a paradigm shift, a quantum leap in the treatment of cystic fibrosis,” Dr. Howard said. “Patients will live longer, feel better and lead fuller lives.”
Chris agrees. In fact, he has continually done whatever he can to help support these new efforts – including hiking (and running!) nearly 30 miles on the Appalachian Trail in one day – the challenge known as the Xtreme Hike, is a fundraiser hosted by the Cystic Fibrosis Foundation Carolinas Chapter. And after several years of participating, Chris finished the April hike in first place, with a time of 7 hours, 16 minutes, a truly amazing feat.
“I hope I can inspire other CF patients,” Chris says. “I never thought I would be able to give other people hope but I have realized in the last couple of years that I do. Other CF families, especially parents of young CF children, see me at my age with a wife and children of my own, living an active lifestyle and it gives them hope that one day their child can grow up to have all of that as well.”
Chris has his own role models, including Russ Jackson, a CF patient in his 60s who received a double lung transplant when he was in his 40s. Chris said he also hopes to be living his best life when he eventually reaches Russ’ age.
“The future looks bright,” Chris says. “There are so many groundbreaking medications and therapies in clinical trial stages right now that will benefit a much larger population of CF patients than what is currently on the market. Medicines are critical but a cure is even better and I see that on the horizon as well. There is much innovative work going on in this field right now that makes the future very hopeful for all of us.”
Learn more about pulmonary care at Atrium Health
