A Conversation About Cystic Fibrosis, Caregiving and Innovation

On Feb. 20, 2020, the Institute for Clinical and Economic Review (ICER) released a draft report assessing the value of several new treatments for cystic fibrosis (CF). For people living with CF and their families, these treatments, which now include disease-modifying therapies, can make a significant difference in improving their day-to-day lives and managing their disease. Given these advances, the CF community will be reviewing the report to ensure that ICER considers the full spectrum of what those treatments mean for people living with CF and their families.  

The National Pharmaceutical Council (NPC) had an opportunity to learn more about how these advances in medicine and technology are making a difference by speaking with Lisa Yourman, the mother of two adult children living with CF and the Coalition Chair for Action CF.

When Ms. Yourman's daughter, Sarah, was diagnosed with CF at 19 months of age in 1991, life expectancy for the disease was less than 30 years. Cystic fibrosis is a rare, progressive genetic disease that causes mucus in various parts of the body to become thick and sticky and leads to persistent lung infections and problems with digestion that can cause malnutrition, liver disease and other complications. Approximately 30,000 people in the United States live with cystic fibrosis, numbers that are increasing due to improvements in life expectancy.

Ms. Yourman credits the vast improvements in our understanding of cystic fibrosis and how to treat it, along with innovation in the development of medical treatments and devices, for enabling people with cystic fibrosis to better manage their health. Thanks to those advances, Sarah is now 30 years old, working as a registered dietitian, and planning her wedding. Jeffrey, Sarah’s younger brother, also was diagnosed with CF. He is now 27 and working full time as a full stack web developer.

Ms. Yourman shared with us her family’s story of hope during a time of significant medical advancements for cystic fibrosis.

NPC: When did you learn that your daughter had cystic fibrosis?

Lisa Yourman (LY): Sarah was diagnosed at 19 months old in 1991. During her first 18 months of life, I knew something wasn’t right, but I wasn’t exactly sure what since she was thriving and gaining weight unlike many children with CF.  I brought her to a specialty CF center in Pittsburgh to do a sweat diagnostic test for CF.  Both the nurse and technician confided in me later that they never would have suspected that she had CF due to her healthy appearance, unlike many children with CF, and were shocked when the test came back positive.

Life expectancy for CF patients was less than 30 years when Sarah was diagnosed. I was that age at the time and I cried for all of the lost possibilities for her future. In the past, mothers were told to “take their baby home and love them for as long as they have,” which was advice that was given by doctors to all CF families. Instead, I was told that she would have a shorter life than someone without CF. I was given the same advice almost three years later when my son, Jeffrey, was also born with CF.

Sarah developed other chronic conditions as she got older. When she was 8, Sarah was diagnosed with type 1 diabetes and at 11, Crohn’s disease. At age 16, she had surgery for scoliosis.

Neither of my children has ever let their health issues stop them from living a normal life. As a family, we always emphasized that we would do normal family activities like their peers. Both of my children graduated from high school and college. Sarah works with patients with type 1 diabetes as a diabetes educator. She fully recognizes and appreciates all the medical professionals who have helped her. She now feels that she is giving back to make a difference for others.

NPC: That’s a lot to manage. What’s a typical day like?

LY: Sarah takes over 60 pills a day. She takes nine pills every times she eats to provide enzymes that help with digestion. She also relies on five inhaled medications and a couple of nose sprays to clear up her lungs and sinuses. For her diabetes, she uses an insulin pump and continuous glucose monitor (CGM) to provide insulin 24 hours a day.

She wakes up two hours earlier each morning to allow an hour and a half of aerosol treatments for her lungs and wears a respiratory vest that shakes her lungs to break up and move the mucus in her lungs. This daily regimen helps to prevent chronic infections.

As a parent, I could have passed on a gloom-and-doom-like attitude, but I wanted my kids to have as normal a life as possible.  Instead, we traveled to 48 states on vacation. They both ski and Sarah became a competitive free-style skier. During the hours waiting at doctors’ offices, we would use the time planning our next adventure.

NPC: How have treatment advances affected your children’s health?

LY: I am humbled by the innovation of new medication because it has been such a game changer for CF patients and their families.  All of the medications and the new medical devices have extended their lives and their quality of life.  

They have benefited from having mucus thinners, inhaled antibiotics that go directly into the lungs, and respiratory vests that keep those infections at bay. For Sarah, the new insulins, continuous glucose monitors and insulin pumps have helped her tremendously in managing her diabetes. Keeping blood sugars under control also helps prevent lung infections. The newest innovations in medicines are changing the underlying nature of CF itself.  

Today, Sarah is working full time, enjoying life, and planning her wedding. Without these innovations, our lives would be very different. There is great hope now in the CF community because of the life-changing research and development.

NPC: Any words of advice for other parents or caregivers of loved ones with a rare diseases?  

LY: Being a parent in general and certainly when your child has a serious illness, takes a lot of energy and a lot of passion, and it’s a lifelong journey. Be optimistic. Do all you can to keep your child healthy so that when new treatments become available, he or she can benefit from new medical innovation. It is important to do what you can to support the research. All of our family has participated in clinical trials to help advance research when we were given the opportunity.

Sarah has a motto: “A normal life is whatever life you lead that brings satisfaction to you and inspiration to others.” That’s the best advice for anyone.