Love, Tenacity Guide Family Journey Through Disease

(EDITOR’S NOTE: This is the third installment in a three-part series recognizing Cystic Fibrosis Awareness Month.)

By Dirk Hoffman

Colleen and Fran Argentieri have three adult daughters, two of whom have CF, yet they are thriving: working full time, getting married, and starting families.

But their road to bright futures was a winding one, sometimes paved with uncertainty.

The couple’s oldest daughter, Alexandra Fitzpatrick, 33, was diagnosed with CF at 15-months-old.

“We had been taking Alexandra to a gastroenterologist pediatric specialist for 10 months and she was getting progressively worse, so we decided we needed to take her to the former Women & Children’s Hospital in Buffalo, and they shared with us they were going to do a sweat test for CF,” Colleen says.

The Argentieri’s went to their local library to read about CF and learned the people afflicted with the disease suffered terribly and many of them died before entering kindergarten.

They were devastated.

After the sweat test was performed in Buffalo, the Argentieri’s drove back home to Hornell. Shortly after they arrived home, they received a telephone call informing them the test results were positive.

The family returned to the lung center the next day to meet with Drucy S. Borowitz, MD, and an entire team of specialists — a pulmonologist, social worker, respiratory therapist and nutritionist.

Alexandra was immediately placed on enzymes to help with her pancreatic insufficiency.

That same week, Colleen, found out she was pregnant with her second daughter, Ashtin McKercher, 31. The couple had an amniocentesis performed and found out Ashtin did not carry the CF gene.

A few years later, their youngest daughter, Carley Gelder, 27, tested positive for CF prior to birth and immediately began going under treatments as a newborn.

“One of the things Dr. Borowitz told us in that first meeting was not to let this disease define our children and not to put limitations on them. She said we could look at it as a curse or a challenge,” Colleen says.

“Those words really resonated with us, so they were involved in all kinds of sports. We allowed them to define their own limitations,” she adds. “They were pretty healthy when they were young, and their lives were fairly normal despite having to do the tough physical therapy two to three times a day.”

“My mom and dad never let us believe there was not anything we couldn’t do. My sister and I both played all the sports, we were starters on our soccer team,” Alexandra says.  “We played basketball and Carley was a cheerleader who won at States.”

When Alexandra became prepubescent at age 12, she started needing to be hospitalized from time to time, her mother says.

Carley had severe sinus issues and at the age of 6, she had her first sinus surgery. At 9, her pulmonary functions were dropping, and she had severe reflux, necessitating fundoplication surgery, where the stomach is sewed around the esophagus.

“Both of them had the Bard Button gastrostomy feeding tubes that go directly into the stomach. They would have nightly feeds to increase their weight gain,” Colleen says.

“Their daily routine was to remove the feeding tube in the morning, hook themselves up to their chest vest and do chest physical therapy exercises for 30 minutes, take two medications to help open up their airways so the mucus could come out when they did their chest PT, take more medications, including an inhaled antibiotic that they had to do through a nebulizer.”  

“Then they would go about their day, come home and do chest PT again. In the meantime, they would also be taking enzymes every time they ate anything. And then at night we would hook them back up to the feeding tubes.”

Alexandra says despite the grueling daily routines, she and Carley led otherwise normal lives and rarely thought about the difficulty of living with a disease that may not be outwardly apparent.

“When I was starting to get very sick, I had a disabled use placard for my car and I had to use it a couple of times because I was failing and it was hard for me to walk without my oxygen,” she says. “I remember one time somebody had said something to me because I didn’t look sick. They had yelled at me in a parking lot and I remember thinking ‘it is very hard to live with an illness that is invisible because people just don’t understand.’”

At one time, Alexandra was on 11 different forms of medication throughout the day, her mother recalls.

“Despite doing all the right things, the disease just takes control of the lungs,” Colleen says. “When she was a high school senior, her pulmonary function was in the 40s and 50s. She went off to college and after she got a four-year degree, her health began to drastically and quickly decline.”

Alexandra had advanced lung disease. She was eventually placed in a medically induced coma, intubated and placed on a respirator, and flown by medical transport to NewYork-Presbyterian Hospital/Columbia University Irving Medical Center where her condition could be stabilized, and she could be considered for a double lung transplant.

Because the respirator was not sufficient to keep Alexandra alive, she was also placed on a second form of life support, an ECMO (extracorporeal membrane oxygenation) machine. An evaluation period was still needed to qualify for the transplant list.

Awakened from the coma after four days, Alexandra was required to get up and walk each day as part of the evaluation process in order to prove she was a viable candidate for a double lung transplant.

“Since she was in such critical condition, she was number one on the transplant list. For an agonizing three weeks, they kept her alive until a set of lungs became available,” Colleen says.

“The advancements in science afforded her a second chance to live. Weighing only 48 pounds at the age of 25, in prior years, she would never have been selected to receive a lifesaving transplant.”

Alexandra remembers being very scared at the time.

“I always took care of myself so when I ended up needing a transplant, that was kind of a shock to me. It came very quickly. I crashed and burned within six months.”

Alexandra was doing her chest physical therapy four times a day and was on IV antibiotics constantly.

“That got really hard because I had no life. It wasn’t until the end when I was very sick that I remember saying to my parents ‘I just want to be normal.’”

Borowitz was her primary doctor when she was young, and Carla A. Frederick, MD, and physician assistant Lynne Fries took over her care when she was 20, Alexandra says.

“Dr. Frederick has kind of become one of my best friends. I remember when I was sick, she told me that no matter what happened she promised she would keep me alive, and she did,” she says.

“Both Dr. Frederick and Lynne fought to the ends of the earth to make sure I got to Columbia and Dr. Frederick wrote a letter to Columbia when I was transferred down there.”

Alexandra said the nurse practitioner who admitted her to the New York City hospital later told her that after reading the letter that Dr. Frederick wrote, he felt he knew Alexandra so well that he had to give her a fighting chance.

“He was the one who fought for me to get put on ECMO and to get on the transplant list,” she says.

“I remember asking him afterwards why he took a chance on someone he never met (because I was in a coma) and he said it was because of Dr. Frederick,” Alexandra says. “She is truly a remarkable human being.”

After the double lung transplant, Alexandra’s life changed dramatically.

“It is a whole different world for me now because I do not have to do any treatments. It all just suddenly stopped — no more chest physical therapy, no more breathing treatments, no more IVs,” she says.

“I remember that life, but I don’t know what I would do if I had to go back to that routine. It’s a completely different mindset and almost like a different life. It seems like a lifetime ago that I had all of that.”

Alexandra works fulltime for Farleigh Dickinson University as the prospect manager of research and database. She is married to her high school sweetheart and last November, the couple welcomed a son, Brooks, their biological baby through gestational surrogacy.

When asked if she ever thought it would be possible to be working, be married and raising a family, Alexandra does not hesitate before answering.

“Yes, and I attribute that to my parents and Drs. Borowitz and Frederick, because they never made me believe that it would not happen.”

Both Alexandra and Carley also credit Fries, part of the adult CF care team, as being an influential component in their health care.

Among her duties, Fries regularly admits patients to the hospital and sees them on a daily basis.

“Lynne is the tough decision-maker and got things done personally that Carley and I (especially me) needed throughout the years. She never let us falter,” Alexandra says.

“The night that I was rushed to Buffalo General prior to my transplant, Lynne was the one behind the scenes calling in my team from Women & Children’s to make sure I was cared for properly to be kept alive. Though she is tough on us to make sure we’ve always taken care of ourselves, she is also our comic relief and biggest cheerleader.”

“We truly could not have asked for a better care team. Lynne is certainly one-of-a-kind and a very special person,” Carley says. “Throughout the years, she has continued to be an incredible advocate, as well as confidante to our entire family.”

“My sister and I are both so fortunate to have had both Lynne and Dr. Frederick continuously care for us,” she adds. “Neither one of us would have the life and health that we do without either one!”

Alexandra says she participated in clinical trial research at UB when her health was failing because she was hoping it might provide some relief for her.

“I was willing to do whatever it took to help myself, and now my sister, because she benefitted from those trials we participated in,” she says.

Trikafta, a fixed-dose combination medicine consisting of a chloride channel opener and two cystic fibrosis transmembrane conductance regulator modulators, was approved for use in the United States in October 2019.

Around that time, Carley Gelder’s life was taking a turn for the worse.

“I struggled just going to work. My pulmonary function was in the 40s. I get very emotional talking about it. I was drastically going down the same path as Alexandra. I did not have the energy to do anything.”

Carley had been a bit healthier than Alexandra throughout her life due to being able to be treated from birth and due to the advancements in treatments, her mother says.

But after going to college and getting a nursing degree, her health started to decline.

“She was working long hours, and she started to lose weight,” Colleen says. “She was struggling walking up steps, she couldn’t laugh without coughing. She had terrible coughing fits when she came inside from the cold.”

After being hospitalized in late 2019, Carley began taking Trikafta and her life took a 180-degree turn for the better.

“Taking Trikafta truly changed my life. Before, I was in and out of the hospital every three or four months.” Carley says. “Since I started taking Trikafta, I have not been back to the hospital.”

When she was sick, Carley was doing her treatments three times a day. Since taking Trifakta, she only does chest PT every couple of days.

“And that is only because I get stressed that I might get sick if I don’t do it. In reality, I don’t have to do chest PT unless I am feeling ill.”

“I still take my enzymes and my medications, but my overall day-to-day life is so different now,” Carley adds. “I don’t have to sit on my couch for 30 to 45 minutes and do my treatments to feel good, to feel like I can take a deep breath or prevent myself from coughing all day. It is very, very different than what I was living like before.”

Carley got married last December and works fulltime as a pediatric nurse.

“I always knew that I wanted to be in health care and wanted to make a difference for people,” she says. “Going into nursing felt like a calling to me.”

Carley sees Frederick, Fries and the rest of the CF team in Buffalo every three or four months for checkups.

“Honestly, we owe everything to Dr. Frederick, Lynne, and that team in Buffalo, including Dr. Borowitz who was my doctor my whole childhood. They are family to us,” she says. “With everything Alexandra went through and Dr. Frederick and Lynne fighting for her, there are not enough words to describe how grateful I am.”

“She fought tooth and nail for her. I remember seeing Alexandra in the ICU and she was intubated. Dr. Frederick just held my hand and stood by me. She didn’t have to say anything because she is just such a special, special person,” Carley adds.

“The way she advocated for Alexandra, but also being strong and that person that I needed at that time. There are not many people who are like her.”

Colleen feels that one of her and her husband’s responsibilities was to not only care for their children, but also to educate people about cystic fibrosis.

The family has participated in the Great Strides walks, the Cystic Fibrosis Foundation’s largest national fundraiser, every year in Rochester or Hornell since 1992 (the year Alexandra was diagnosed with CF).

The team of “Alexandra’s Army” later evolved into “Argentieri’s Avengers.” After participating in the Great Strides walk in Rochester for three years, organizers took note of the amount of money the family was raising and asked it to start a Great Strides walk in Hornell.

“Over 32 years, in combination with all the teams, we have raised over $1 million — in a small town of about 9,000 people,” Colleen says.

The importance of being a tissue and organ donor is also a cause that is near and dear to the Argentieri’s hearts.

“Five lives were saved the day Alexandra received her second chance to live, and look how life is continued because of her having that chance,” Colleen says. “Not only would we not have her, but it is beyond me to think of our life without her and Brooks now.”

But beyond the educational endeavors and raising money for research, lies the pure bliss of a family who is whole once more.

“Who could have dreamt that our two children with cystic fibrosis would be at this point in their lives? — breathing easy, having careers, getting married and starting to have families. That truly is a dream come true,” Colleen says.

“It marks the first time in our lives, for my husband and me, that our children have all been well and healthy. We have a lot to be thankful for. We are so blessed.”