Marcia Miller appreciates the simple things in life: baking lemon blueberry bread, tending to her fairy garden, playing the piano with her daughter, watching her grandsons play soccer, and snuggling up with her beloved toy poodle Mickey.
At age 64 and with cystic fibrosis, Marcia knows she has defied the odds and shouldn’t even be living, let alone enjoying the quality of life she has.
“I’ve had 9 lives, honestly,” said Marcia – a joke that’s actually true when you consider the hospitalizations she has had over the years, her recovery from several health emergencies, her survival from a serious car accident, and the fact that she lived with cystic fibrosis, a fatal genetic condition, for 5 decades before receiving an official diagnosis.
While great strides have been made in treatment, it’s still rare for CF patients to survive into their 40s. The genetic mutations involved with CF make the normal mucus secreted by the lungs and pancreas thick and sticky. This leads to problems with breathing and digestion.
Marcia, a retired kindergarten teacher who lives in Millersburg, Ohio, with her husband, Warren, is on a waiting list for a lung transplant.
“I probably have about 30 percent lung function now,” she said. “I undergo a thorough evaluation every 3 months. If I would get sick, I would move up on the list. Matches are based on need, lung size, tissue type, blood type and other factors.”
Growing up, Marcia was often sick. Doctors diagnosed her with allergies, sinus problems, asthma, and bronchitis. She had surgery at 2 weeks of age for a GI tract disorder, and she underwent more surgeries in young adulthood.
A section of her lung was surgically removed in her 30s. While several doctors suspected cystic fibrosis, sweat tests – the front-line tool to diagnose CF – came back normal.
“I could never walk fast, was always out of breath, and coughed constantly,” said Marcia. “All my life, I knew I was different.”
For years, Marcia sought answers – through books, news, doctors at various hospitals in northeast Ohio, and the Internet. About 13 years ago, she thought she finally found a diagnosis.
A pulmonologist at the Cleveland Clinic said, “No, I don’t think that’s what you have. Based on what you have told me, I think you have cystic fibrosis.”
Another sweat test came back in the normal range, but further lab work showed Marcia was positive for the Delta F508 gene, the most common CF mutation. Her second genetic mutation is one of the rarest of the 2,000 known CF mutations.
“It was like the puzzle finally came together,” said Marcia.
Marcia began treatment, which included numerous medications with specific functions such as thinning the mucus that builds up in her lungs and opening airways to making coughs more efficient.
Twice a day, she uses a frequencer, a device that sends sound waves to her chest to break up the mucus. She qualified for the $16,000 piece of equipment after a 2014 car accident left her with a broken neck.
Recovery from the accident did not go smoothly as Marcia developed an infection and spent weeks in the hospital, including the intensive care unit.
Marcia takes about a dozen pills in the morning and another dozen at night. She may soon start a clinical trial for a medication that seems to respond well to her rare mutation.
If she’s cleared to start the trial, she would need to temporarily go off the transplant wait list.
CF treatments, doctor’s appointments and hospitalizations take precious time from her days. Marcia was urged to retire early from teaching and she has to avoid hobbies (such as vegetable gardening) and some social situations to avoid infection.
She gets winded walking short distances and relies on supplemental oxygen for most of her day.
Through it all, Marcia has approached her life like someone who views her glass half full – rather than half empty.
“Marcia has an indomitable spirit,” said Dr. Titus Sheers, medical director of Akron Children’s Adult CF Clinic. “Her health has made things difficult, but she still gets excited by new possibilities and is still checking items off her bucket list.”
In addition to her positive attitude, Dr. Sheers says Marcia’s adherence to her treatment plans, her supportive family and close proximity to several great hospital systems in northeast Ohio have been key factors in keeping her healthy.
Marcia thinks about her unique CF journey.
Yes, she would have liked to have had a diagnosis early in childhood. That would have given her access to better treatments sooner, and she regrets not participating in sports like today’s children with CF are encouraged to do.
She advises parents of children with CF to seek a CF center of excellence, such as Akron Children’s, and stay up on the latest developments, particularly the new genomic-based medicines in development.
“Living with CF is a balancing act,” said Marcia. “You need to protect yourself from germs but you can’t live in a bubble.”
Above all, Marcia treasures time with her family, from her 89-year-old father to her grandsons, Kayden, 9, and Perrin, 8, who are the key motivation for her “fight.”
She loved every minute of a family vacation to Disney World this past June. She covered much of the massive amusement park in a wheelchair, but the important thing – the magic, as Disney calls it – is that she was there to experience it with Kayden and Perrin.
“Especially now, I appreciate every day,” Marcia said. “Every day is a gift.”