Cystic fibrosis was one of the first diseases I was aware of. Rosemary Simpson had it, and our mothers were best friends. So I played by myself on the days Rosemary lay on a wooden board, and our mothers pounded her back to loosen the mucus in her lungs.
Once, when I had bronchitis, my mother did the same to me. Beat her fists up and down my back. Something she'd learned from Rosemary's mother. But we were both aware of the difference.
Rosemary was the youngest of four children. Her oldest sister was the only child without cystic fibrosis. Her mother buried her two brothers when they were teenagers, and finally Rosemary. Before her fourteenth birthday.
Most people aren't very aware of this disease.
Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that: not only clogs the lungs and leads to life-threatening lung infections but also obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food. Since it's a gene defect, lung transplants are useless.
In the 1950s, few children with cystic fibrosis lived to attend elementary school. Today, advances in research and medical treatments have further enhanced and extended life for children and adults with CF. Many people with the disease can now expect to live into their 30s, 40s and beyond, although there is still no cure.
Early diagnosis and treatment dramatically improve the prognosis for CF according to Dr. Joel Ledbetter, pediatric pulmonologist at Children's' Hospital. "Tennessee has been conducting newborn screenings for CF since 2008, and there is a great advantage when we can begin treatment before the child gets ill," he says. If too much time passes before diagnosis, there can be lung damage as well as malnutrition.
Mary Alice Lane, daughter of Bridget and Mike, was two months old when she was finally diagnosed. "We knew something was wrong when she kept losing weight, but the pediatrician attributed to breast feeding. One day I was extremely alarmed, and went straight to the doctor's office with no appointment. It was a God-thing. My regular doctor wasn't there, and the doctor on call, Dr. Alan Coffman, walked in and kissed my baby, which I thought was unusual, but nice. He immediately ordered a sweat chloride test. He tasted salt on her skin, which is a sign of CF. He turned out to be with the Cystic Fibrosis Clinic, and we finally got her diagnosis," Bridget says.
At first this news was staggering to the Lanes. "You have a vision for your baby. For your family. And we were terrified initially. But we never felt alone. Kendra Wheatley, my coworker at Unum, immediately contacted the National Cystic Fibrosis Headquarters and organized a walk in Chattanooga. Our goal was $15,000 and we raised $50,000. Everyone was so wonderful. They didn't know what to do, so they did this. And Unum is incredible. They match every $50," Bridget says. "It blows my mind!"
There's no way this is an easy path. But you'd never know it talking to Bridget. Her voice is merry and warm and joyful as she talks about the enzyme tablets that Mary Alice takes at every meal to digest her food, and the breathing treatments every morning and the percussion vest that vibrates to loosen the mucus in her lungs twice a day. But Mary Alice is getting to the age where she doesn't want to be different from her friends. And they all go to slumber parties without vibrating vests and breathing treatments. Bridget sighs when she says this, but speaks without a trace of despair.
"There are so many blessings. We've met the most wonderful people along the way. The inspire us and support us. We don't rush the future. We enjoy her one day at a time, and focus on keeping her healthy and making her life as normal as possible. Of course, she'd do that without us. She's a very determined little girl, Bridget says.
And in the world of cystic fibrosis there is much more hope than there is despair. For good reason.
Yesterday Congress passed the EXPERRT Act, or the Expanding and Promoting Expertise in Review of Rare Treatments Act of 2012. It was introduced in the House of Representatives on March 8 by Cystic Fibrosis Caucus co-chairs Reps. Ed Markey (D-MA), Tom Marino (R-PA), and Cliff Stearns (R-FL) and in the Senate on March 29 by Sen. Sheldon Whitehouse (D-RI).
It will make it easier for the FDA to access and consult with rare disease experts outside the agency. The standard red tape will now be eliminated, making the drug approval process more efficient, and getting life-changing treatments to patients sooner. Imagine the frustration of knowing a drug was out there, but at the tip of your fingertips for what would seem like an eternity.
for the FDA to consult with rare disease experts outside of the agency, helping create a more efficient drug approval process to move treatments quickly into the hands of patients.There is a new drug, Kayladico, which dramatically helps 4% of people with cf. And with the EXPERRT Act, more will not only be on the way, but fast tracked. There are different mutations of the gene, which explains the vast array of symptoms, and they are being isolated and researched by pharmaceutical companies. The research was funded by the Cystic Fibrosis Foundation.
"By 2020, if the funding is available, there is a projected cure date. Mary Alice will be sixteen," Bridget says.
What a sweet sixteen that will be.