Colleen Dwyer-Argentieri was thrilled when she and her husband Fran found out they were expecting their first child. September 28th, 1990 they were blessed with a beautiful baby girl, Alexandra Marie Argentieri. At six pounds, two ounces and nineteen inches long, she was as healthy as any other newborn baby and remained that way for the first few months of her life.
However, when Alexandra was around four months old, she began having excessive foul smelling, fatty stools and progressively lost weight. In addition to her abnormal stools and “failure to thrive,” Alexandra began frequently gaging on and spitting up thick, sticky mucus. By the time she was six months old she was hospitalized. A loss of two pounds in addition to extreme lethargy, led physician to believe meningitis was the cause. However, a spinal tap revealed no evidence of that diagnosis. Over the course of nine months following her hospital stay, Alexandra continued to struggle with weight gain and sever stomach pains. Knowing in her heart that something was very wrong with her little girl, Colleen trusted her instinct- along with her husband Fran they began to fight for answers to their daughters failing health.
Finally, much to their consternation, on January 9th, 1992 at fifteen months old, Alexandra was diagnosed with a genetic disease called Cystic Fibrosis. After extensive investigating- including two sweat tests and a genetic blood test, Women’s and Children’s Hospital of Buffalo gave the concerned parents their daughter’s diagnosis. Having never heard of Cystic Fibrosis, Colleen and Fran were shocked to find out it was the most common genetic disorder, affecting the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). The defective gene and its protein product cause the body to produce unusually thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections. In addition, the mucus obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food. Once diagnosed everything made sense- Alexandra’s symptoms were textbook. However Colleen and Fran were at a loss. They were surprised to learn that both parents have to be carriers of the defective gene in order for a child to have Cystic Fibrosis. Coming from large families with many siblings, no one else had children with the disease and most had never even heard of C.F. In the 1950’s most children with C.F. didn’t live to attend elementary school. At the time of Alexandra’s diagnosis, twenty one years ago, life expectancy for a child with Cystic Fibrosis was seventeen years old. Devastated by this prognosis the two parents did the only thing they could- they pushed forward, finding out everything they could about the disease and began raising money towards life changing research.
Soon after Alexandra was diagnosed, Colleen and Fran found they were expecting another child. Ashtin blessed their home and fortunately did not have Cystic Fibrosis. However, four years after she was born, Carley arrived with the same disease as her oldest sister. Having had prenatal testing done for both Ashtin and Carley in utero, they were aware of her diagnosis before she was born. Motivated more than ever, the family pushed on- fighting for a cure. Their commitment to raising awareness and funds for C.F. caught the attention of the C.F. Foundation and it’s local chapters out of Buffalo and Rochester. With the amazing support and love from family, friends and the community, the first Annual Great Strides Walk to Cure Cystic Fibrosis was started right here in our small city of Hornell, New York.
I selected Colleen as my very first interview for Real Women and wanted to publish my page in May because it’s National Cystic Fibrosis Awareness Month. However, my reasons are many aside from that. Colleen is my sister, her children my nieces. I’ve watched them grow from beautiful babies into extraordinary young women. I’ve watched and experienced my sister’s heartache and exhaustion as a woman and a mother. I’ve sat in the hospital- waiting and worrying with her while her children endured numerous surgically procedures. I’ve listened to her cry with concern at their trials, and rejoice in celebration over their many triumphs. In my interview with my sister Colleen, I will unveil the emotions and thoughts of a mother and wife with three children, two of which have this genetic disease. I hope you gain perspective, appreciation and respect from this, as well as awareness and knowledge.
• What do you want people to know most about yourself?
I guess I would say what I want people to know most about me, and not to sound corny, is that I feel extremely blessed to have the life I do despite the cards we have been dealt. I have a wonderful, hardworking, and loving husband and three beautiful daughters who are very bright, respectful, loving, and family oriented.
• Tell me a little about your three daughters. You have two with C.F. correct?
Yes. Alexandra is 22, Ashtin is 20, and Carley is 16- my husband and I truly view them as our heroines. Alexandra and Carley are both afflicted with cystic fibrosis (cf), and Ashtin, who is not afflicted but lives with cf in a different way, continue to live their lives with courage, strength, and determination. These three words are not easily demonstrated; however, all three girls define the words daily simply by their actions.
Alexandra is a senior at Nazareth College and Carley is a junior in high school. They both remain faithful to their daily regimen of taking numerous medications, undergoing chest physical therapy, and intravenous feedings that fill approximately 10 hours of each day; and the amazing thing is they very rarely, if ever, complain.
Ashtin, a sophomore at Nazareth College, is steadfast with her kind heart, sensitivity, and willingness to offer assistance to both her sisters and to us when needed or asked; and has always completely understood the extra time given to her sisters for their care. She is extremely proud of them and whenever she has an opportunity, she places them in the forefront to describe what they endure.
•How do they cope with Cystic Fibrosis everyday of their lives?
Living with cf means constant change and the need to be versatile. Change can be extremely difficult at times for anyone, particularly when they were children who did not always understand the whys and wherefores. However, regardless of what Alexandra, Ashtin, & Carley have faced at this point in their lives, and they have faced much, they have shown us, our families, and our friends’ wisdom far beyond their years. They have risen to the challenges they face daily, which are not always the same, and they have proven to us that our thoughts and our imaginations are the only real limit to our possibilities. Their smiles and their tears have given us the resolve and perseverance to live each day to its fullest and to continue our challenge to educate the public about cystic fibrosis as we forge ahead to assist in finding a cure!
•How did you cope when you were told your daughters have CF?
I believe one copes with things the best they know how. My coping mechanism was and still is a couple of different things. My faith is very strong thanks to the way I was brought up, and that is what sustained me through the long night of Alexandra’s diagnosis. I also have the two best families (mine & my husband’s) anyone could hope to have- very supportive and there every step of the way. In addition, I have a very strong, loving circle of friends and a caring community.
•What did the doctors predict as far as Alexandra’s quality of life?
The doctors felt strongly that Alexandra would live a good life depending on her level of activity and care. They are a very realistic, yet extremely positive team of doctors and other medical staff, and have always strongly pushed for following the requested care that they recommended. They told us we could look at this as a curse or a challenge. We could provide Alexandra with the best we have or we could feel sorry for ourselves and for her and not live our lives the way we should. We decided we were up to the challenge and would not allow this disease to control our lives.
•What were your thoughts about having more children after Alexandra was diagnosed?
During the first couple of days, we wondered if we should have more children. However, that decision had already been made for us. We found out we were expecting our second daughter. I had prenatal testing done at twelve weeks, an amniocentesis, to determine if our second child would have cf- if the baby did have cf, we could begin treating him/her at birth. We later learned that not only did Ashtin not have cf, she wasn’t even a carrier. She received both good genes.
Carley was born nearly four years after Ashtin and six years after Alexandra. We also had the prenatal testing done for Carley to determine the prognosis and found out she did have cf – only 25% chance. We got the 25% on all three girls – total opposite ends of the spectrum.
•How was Carley’s diagnosis different from Alexandra’s? Did you feel that you were able to deal with it more easily?
We were able to plan for Carley’s treatment from the beginning of her life. Carley began taking pancreatic enzymes when she was only three weeks old which allowed her to gain weight and be a very healthy baby. We also started the chest physical therapy from the time of birth.
When Carley was born, we were so much better educated about cf and what we needed to do to help her get a healthier start than Alexandra had. Although we continue to learn about cf and the disease with each new problem that arises, at the time we understood the disease and were both mentally and emotionally ready to do what was needed.
- What do you think the biggest misconception with CF is?
For anyone who is remotely in tune with cf, they know the CFF has made enormous strides in research and science, particularly over the past 20 years. I’m not certain I would say it is a misconception about cf, but I believe because people afflicted with cf look “normal” on the outside, folks don’t understand the “true” impact it has on a person’s body, nor do they have a true idea of what they endure to remain healthy.
I have always been bothered when people who are really trying to be nice refer to them as “sick.” They are not sick, they have a disease. I have always stressed to our children that we will not allow cf to define who they are, but rather we want others to know them as normal children and young adults who are afflicted with cystic fibrosis.
- The ultimate goal is of course to find a cure- how close are they?
The Cystic Fibrosis Foundation is focused on finding a cure and control for CF, improving the quality of life for people with the disease and sharing educational information, but to ask any parent, husband, wife, etc., who has a loved one with cf, they would tell you a cure is never close enough until it has happened. However, the CFF has made such strides with understanding the disease that the first medication, Kalydeco, which was approved by the FDA in January 2012, to treat the underlying or root cause of cf; but this only helps about 4% of patients afflicted with CF. You see there are over 1200 different mutations (or different variations of cf) and Kalydeco given alone only helps patients with the G551D mutation. The most mutation of cystic fibrosis is called Delta F508, (sometimes called F508del). Approximately 50% of all patients with cf have two copies of F508del, while 90% carry at least one copy of this mutation, and this particular mutation causes the most common CF symptoms. This mutation can vary in how severe the CF symptoms are in a person. Some less common mutations of the CF gene may cause milder symptoms.
Having said all of this, we believe Alexandra and possibly Carley will be participating in a Phase 3 study (the step prior to a medication being approved by the FDA) which is scheduled to begin this summer for patients who have two copies of the F508del mutation.
Following are some statistics about cf – 10 million people in the US are carriers. I believe most would be shocked to see the following information:
In the U.S., the number of people who carry a CF gene is about:
1 in 29 Caucasian Americans; 1 in 46 Hispanic Americans; 1 in 65 African Americans and 1 in 90 Asian Americans.
In the U.S., the number of people who have CF is about:
1 in 2,500–3,500 Caucasian Americans; 1 in 4,000–10,000 Hispanic Americans; 1 in 15,000–20,000 African Americans; and 1 in 100,000 Asian Americans.
- Your husband worked out of town for a number of years. What was it like being a single parent for a while?
It could be extremely challenging at times, but I knew both Fran and I were committed to doing what needed to be done for our family. The thought of doing it before it actually happened was very stressful and I often ask myself now how I did it, but when one is going through it; you just do what needs to be done.
- What type of strain did that put on your family/marriage and how did you handle it?
I believe Fran and I have great communication, so trust me, there were times when our discussions would get rather heated. It was not only difficult for me being a single mom during the week, but with Fran being a bachelor, he too felt that when he came home on the weekends, he had to try to fit himself into the “schedule” our family created without him being around. We often had the conversations about just because he was gone all week didn’t mean that he no longer had responsibility for helping with the girls medications on the weekend (which many times I desperately needed a break), or for disciplining the girls if they were out of line of disrespectful. Like any normal family, we had difficult times, but because we do communicate well, he knew how I was feeling and vice versa. Lastly, I must say that one of the most important things in a marriage is trust and because we trusted one another on every level, it made it a little less grueling. I did, however, miss my best friend being with me at our children’s events or different times when he just could not be home. There were many times, however, where he would leave on Monday morning, drive back home on Tuesday, and leave again on Weds. morning all to attend an event that was special to one of our daughters. Regardless of him being four hours from home, his family always remained his priority. Do I want to do that for another five years – NEVER!
- What are your thoughts and worries with your girls growing up and beginning to leave the nest?
I believe my thoughts and concerns for my children are not much different than any other parent – are they happy, will they be able to be self-sufficient? But added to the “normal” things most parents worry about, we have the added concerns regarding their health – will they take their medications and do their chest physical therapy as instructed? Will they have good health insurance to cover the tens of thousands of dollars in medications and medical bill each year? Will they be proactive in contacting their doctor when ill, will they advocate for themselves? I might add that I am extremely proud of our oldest daughter with how she had taken on the responsibility of her own healthcare now that she is out of our home and I college. She completely knows and understands what she needs to do to remain healthy!
- What do you consider your greatest accomplishment with regards to your children?
There are a couple great accomplishments in regards to my children that both Fran and I are very proud of. We gave our children a very happy, normal life in spite of the additional treatments, medications, and hospitalizations they endured while growing up. We never allowed them to use cf as an excuse to not accomplish something, AND we taught them what takes priority for them – their health. We have always insisted that their healthcare take priority, i.e., doing the chest physical therapy and taking their medications daily, followed by their academics, and everything after that. If they don’t have their health, everything would be an added struggle. So, we have taught them the importance of doing what needs to be done to remain as healthy as possible. While their treatments and taking medications are a very daunting task, they know they must remain faithful to their regime to enjoy everything else in life.
- What is your thought on hindsight?
If someone were to tell me what we were going to have to deal with involving our children and their lives, I would have said I would never have been able to do it. It’s funny because while it is extremely difficult to see my children go through what they endure, we feel very blessed. There are so many people who suffer so much more in life, those who have lost their children through other illnesses, diseases, or from an accident, etc. We have met so many wonderful and inspiring people along our journey, and have been able to help others as well. There are no guarantees in life so you have to make the best of what you are given. People have a choice as well – we chose to do our best to be happy. Our journey is far from over, but regardless, we know we have done the best we could.
Lastly, I would be remiss not to say that we have been extremely blessed to be surrounded by the most wonderful families, friends, and a terrific community full of support, and an outstanding team of doctors, nurses, & researchers who will stop at nothing to help find a treatment or cure for all those afflicted with cf.
- What advice would you give to a new parent of a child with CF?
Wow – what a big question! First and foremost besides loving your child, one MUST identify a CFF accredited care center. Have hope and believe your child will live a full and productive life. Do not carry guilt or feel as though you have done something to your child. Allow your child to be as normal as other children, but instill in them the absolute need and priority of taking their medications and doing their chest physical therapy treatments daily! That is a MUST in order to be healthy and strong. Never, ever tell your child they are unable to do something, i.e., sports, playing an instrument, etc., because they have cf. Please allow them to learn their own limitations – they will. Exercise is a critical component of good health. Please understand that cf is a disease that is different for each person afflicted, even though most of the population with cf has at least one copy of the most common gene, do not compare your child to others with cf. Learn as much about the disease as you can, but try to recognize when you are trying to learn too much or you are on overload. No need for the parent of a newborn with cf to know the all about transplantation, etc. Only obtain information from recognized CFF sites — @ http://www.cff.org. Speak to someone who has experience with cf, AND lastly, know your child may have an occasional illness or set back, but when they are seen by an accredited care center, they will do their very best to keep your child healthy. BELIEVE!!!!
For more information about Cystic Fibrosis or the Great Strides Walk, please go to www.cff.org. Join us this year in Hornell’s 14th Annual Great Strides Walk on June 8th starting at 11 o’clock in the Steuben Trust Parking lot. If you have questions about the walk or Cystic Fibrosis and would like to speak with Colleen personally, please feel free to contact her at firstname.lastname@example.org.