Kelly Mordaunt
Julia was born in February of 1981. I was too young to remember her birth as I had just been born a year and half earlier. To me, we have always co-existed.
In 1981, the life expectancy of someone with cystic fibrosis was just 18 years old. No one knew Julia had cystic fibrosis yet.
In 1989, while Julia and her siblings were out riding bikes and making boondoggles from the red box in the park, there was a breakthrough finding in a research laboratory not too far away – the identification of the cystic fibrosis transmembrane regulator (CFTR) protein - a crucial protein involved in the regulation of chloride. When this protein is not made correctly (or at all) it leads to a dangerous build-up of thick mucus in the lungs, pancreas and other organs.
A year later in 1990, there was proof that restoring the defective CFTR activity was possible! We had no idea what any of this meant.
In the ensuing years, while we were embarking on family camping trips and cheering Julia on at her baseball games (she played little league as the only girl on the team for many years, by the way) tireless scientists were busy identifying more than 1,700 CF gene mutations and were sequencing the entire DNA of the bacteria that was the most common cause of CF lung infections.
We were unaware.
A few years later, our family got the devastating news: it was much more than asthma that Julia had been struggling with. Julia had a rare genetic disease called cystic fibrosis. We were told that the median predicted age of survival was now 30.
Around this time, new inhaled hypertonic saline treatments were available. Drugs that could directly target the defective CFTR gene were in the developing stages, and the FDA had just approved the first aerosolized antibiotic designed for CF.
Between clinic appointments, hospitalizations, and other setbacks, teenage Julia stayed busy stocking the local stores with her hand-crafted beaded jewelry, traveling to see her favorite band, and beginning the stages of her soon-to-be influential archival website. She seemed pretty determined: if her life was to be cut short, she was going to live it to it's fullest.
During these years I began to realize a few things. I learned that back in the 1950s, children with this disease didn’t survive past their 10th birthday. I realized that the life expectancy had been steadily climbing due entirely to a nonprofit organization called the Cystic Fibrosis Foundation – a devoted community of parents, fundraisers, advocates, doctors, scientists and researchers. And I knew that I had to join the fight.
The CF Foundation is the reason my sister is here with us today, coloring the world with her amazing talent and sense of humor.
Today, the median age of survival has climbed to 50. For the first time ever, we are seeing people with CF get married (congrats, Julia and Robert!), start families, finish degrees.
It’s more crucial than ever that we continue the development of drug therapies, especially alternatives to antibiotics for adult CF patients who battle recurrent infections and develop resistance. We must continue gene therapy research and work to expand our knowledge of the underlying biology of the disease and its long-term effect on the body.
And it’s absolutely critical that we make sure mental health services are available to all patients and their families. While the advancements are astounding, the painful truth is that cystic fibrosis still regularly takes the lives of young people.
Sometimes I catch myself saying things like, “my sister is still here – she is one of the lucky ones” but luck really has nothing to do with it. It’s science. It’s research. It’s your donation to the CFF.
Please consider helping us reach our goal this year. Even if it's a dollar. No amount is EVER too small!
In 1981, the life expectancy of someone with cystic fibrosis was just 18 years old. No one knew Julia had cystic fibrosis yet.
In 1989, while Julia and her siblings were out riding bikes and making boondoggles from the red box in the park, there was a breakthrough finding in a research laboratory not too far away – the identification of the cystic fibrosis transmembrane regulator (CFTR) protein - a crucial protein involved in the regulation of chloride. When this protein is not made correctly (or at all) it leads to a dangerous build-up of thick mucus in the lungs, pancreas and other organs.
A year later in 1990, there was proof that restoring the defective CFTR activity was possible! We had no idea what any of this meant.
In the ensuing years, while we were embarking on family camping trips and cheering Julia on at her baseball games (she played little league as the only girl on the team for many years, by the way) tireless scientists were busy identifying more than 1,700 CF gene mutations and were sequencing the entire DNA of the bacteria that was the most common cause of CF lung infections.
We were unaware.
A few years later, our family got the devastating news: it was much more than asthma that Julia had been struggling with. Julia had a rare genetic disease called cystic fibrosis. We were told that the median predicted age of survival was now 30.
Around this time, new inhaled hypertonic saline treatments were available. Drugs that could directly target the defective CFTR gene were in the developing stages, and the FDA had just approved the first aerosolized antibiotic designed for CF.
Between clinic appointments, hospitalizations, and other setbacks, teenage Julia stayed busy stocking the local stores with her hand-crafted beaded jewelry, traveling to see her favorite band, and beginning the stages of her soon-to-be influential archival website. She seemed pretty determined: if her life was to be cut short, she was going to live it to it's fullest.
During these years I began to realize a few things. I learned that back in the 1950s, children with this disease didn’t survive past their 10th birthday. I realized that the life expectancy had been steadily climbing due entirely to a nonprofit organization called the Cystic Fibrosis Foundation – a devoted community of parents, fundraisers, advocates, doctors, scientists and researchers. And I knew that I had to join the fight.
The CF Foundation is the reason my sister is here with us today, coloring the world with her amazing talent and sense of humor.
Today, the median age of survival has climbed to 50. For the first time ever, we are seeing people with CF get married (congrats, Julia and Robert!), start families, finish degrees.
It’s more crucial than ever that we continue the development of drug therapies, especially alternatives to antibiotics for adult CF patients who battle recurrent infections and develop resistance. We must continue gene therapy research and work to expand our knowledge of the underlying biology of the disease and its long-term effect on the body.
And it’s absolutely critical that we make sure mental health services are available to all patients and their families. While the advancements are astounding, the painful truth is that cystic fibrosis still regularly takes the lives of young people.
Sometimes I catch myself saying things like, “my sister is still here – she is one of the lucky ones” but luck really has nothing to do with it. It’s science. It’s research. It’s your donation to the CFF.
Please consider helping us reach our goal this year. Even if it's a dollar. No amount is EVER too small!
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