by Jessica Dronen, MS, CGC, Genetic Diseases Research and Information Specialist, ThinkGenetic
Welcome to ThinkGenetic’s May genetic book spotlight!
In this series we combine a review of one or more books focused on a specific genetic condition while providing general information about that condition during its awareness month. May is cystic fibrosis awareness month and the second book in our series is “Salt in My Soul: An Unfinished Life,” by Mallory Smith. This book is a series of journal entries by Smith which were compiled by her mother after Smith’s death from cystic fibrosis at age 25.
What is Cystic Fibrosis?
Cystic fibrosis (CF) is a genetic condition which impairs the body’s ability to transport salt across membranes. This causes a buildup of sticky mucus in the lungs, pancreas and other organs. This buildup leads to frequent lung infections, reduced lung function and chronic digestive problems. There can also be additional concerns like CF-induced diabetes, infections, sinus problems, and male infertility. There are about 30,000 individuals living with CF in the United States.
Cystic fibrosis is a life-threatening condition. In the 1950s the average life expectancy was a few months. Life expectancy has now increased to over 40 years of age in developed countries. There are new disease specific treatments which may help increase life expectancy and quality of life. For example, in 2019 the FDA approved Trikafta, the first triple combination therapy to treat individuals with at least one delta F508 mutation (the most common CF mutation) or several other responsive mutations. This is thought to encompass approximately 90% of the CF population. To see the state of other drugs currently being researched, visit the Cystic Fibrosis Foundation’s Drug Development Pipeline page at https://www.cff.org/trials/pipeline.
Cystic Fibrosis Awareness Month
May is cystic fibrosis awareness month! Visit the Cystic Fibrosis Foundation (CFF) at https://www.cff.org/ for more information about the condition, news and ways to get involved. For example, CFF is hosting hundreds of “Great Strides” events around the country this month. Great Strides is CFF’s largest national fundraiser which raises funds to support CFF’s mission of finding a cure for CF. This year’s events may look a little different than years past, but there are still fun ways to get involved. Visit Attend an Event | CF Foundation to find an event near you!
There are also many smaller organizations focused on CF. One example is Claire’s Place, a “foundation for cystic fibrosis support.” This organization works to support families of individuals with CF by providing financial support during extended hospital stays, creating hospital playrooms, helping individuals with CF identify possible careers through their Work Proudly program, and connecting newly diagnosed or isolated families through their Support Families Network. Visit Claire’s Place Foundation | Until there’s a cure, there’s Claire’s Place for more information or ways to donate/get involved.
About “Salt in My Soul: An Unfinished Life”
Mallory Smith was diagnosed with cystic fibrosis (CF) when she was three years old. Her book, “Salt in My Soul: An Unfinished Life,” is a series of journal entries compiled by her mother after Mallory’s death from CF at age 25. These entries morph from quick insights focused on her thoughts and meaningful events in her life at 15 years of age to deeper concepts contemplating daily life with CF and what it really means to live “Life Happy.”
Readers can’t help but be amazed with Smith’s wisdom beyond her years as she continually pushes herself to live a life worth living. She reflects that while no one knows exactly when their life will end, those with CF and other life-limiting illnesses have a greater certainty that life will “most likely be cut short to some extent”, which forces them to “search for meaning now rather than later.” Smith was determined to live “Life Happy,” even in the face of declining health. Readers watch her journey transitioning to independence in college, debating what it would mean to have a meaningful career and social life, and finding love. In December 2015 Smith contemplated New Year’s resolutions and the “pillars that would make (her) life good,” including things like happiness, meaning, community, strong relationships, exercise, nutrition, sleep, and many others. We watch as she strives to support these pillars on a daily basis, while also coming to terms with the fact that life may not always be what she imagined, and that she may not have some of the opportunities she didn’t question in her youth.
Smith’s entries force the reader to take a hard look at their own lives and values. It encourages them to assess if their current actions are supporting their overall goals/pillars/north stars. While Smith’s goal was that “(her) writing (would) offer insight for people living with, or loving someone with, chronic illness,” this book offers so much more. Her reflections are applicable to everyone trying to balance their lives and find “healing as a sense of wholeness.”
Diving into the World of Adult Medical Care
“Salt in My Soul: An Unfinished Life” also provides an inside look into Smith’s thoughts as she transitions from adolescence to adulthood while living with CF. Transitioning to adulthood usually includes things like learning to do laundry without shrinking all of your clothes, paying your own bills and having the difficult “we have food at home” conversation with yourself instead of ordering take-out yet again. There also comes a time in almost every adolescent’s life when they will need to take charge of their own medical care. This transition is often complicated enough by itself, but can be much more so when someone has a chronic medical condition like CF. For Smith this included transferring care to a treatment center in a new city, deciding whether to transition directly into adult CF care when she went to college or begin in pediatric care, and learning to take responsibility for her own nutrition and treatment schedule. She provides an inspirational view into how to make it all work while still prioritizing “Life Happy.”
Interested in Learning More about Transitions?
The Cystic Fibrosis Foundation (CFF) has a dedicated tab on their website to “transitions” including Managing my CF in College, Reproductive Health and Fertility, Family Planning and Parenting with CF, and Colorectal Cancer and CF. Visit Transitions | CF Foundation for more information.
It is also important to talk to any adolescent, with a chronic medical condition or not, about other aspects of transition to adult health care. Studies have shown that the majority of youth in America do not receive formal guidance through the transition from pediatric to adult care. This is true for both individuals with and without special health care needs. This is particularly concerning as youth have been identified as a vulnerable population in health care. However, there are resources to help families and health care providers bridge this gap. One example is Got Transition®. Got Transition® is a federally funded resource for clinicians, youth and young adults, and parents and caregivers aimed at improving the transition from pediatric to adult health care. This site has infographics, information sheets, articles, readiness assessments, frequently asked question pages and more. Visit Got Transition® for more information. Your home treatment center may also have area-specific transition guides or may be able to point you toward disease-specific resources. And remember, your doctor and genetic counselor are there to help!
As always, talk to your doctor about any information presented on the sites listed in this article and with any questions you may have about your family’s care.
- Claire’s Place Foundation | Until there’s a cure, there’s Claire’s Place
- Cystic Fibrosis Foundation | CF Foundation
- Cystic Fibrosis – ThinkGenetic: ThinkGenetic. (n.d.). Retrieved May 7, 2021, from https://www.thinkgenetic.com/diseases/cystic-fibrosis/
- Elborn, J.S. “Cystic Fibrosis.” Lancet. April 2016. doi: 10.1016/S0140-6736(16)00576-6
- Got Transition®
- Lebrun-Harris, L. A., McManus, M. A., Ilango, S. M., Cyr, M., McLellan, S. B., Mann, M. Y., & White, P. H. (2018). Transition planning among US youth with and without special health care needs. Pediatrics, 142(4).
- US Food and Drug Administration. (2019). FDA approves new breakthrough therapy for cystic fibrosis. https://www.fda.gov/news-events/press-announcements/fda-approves-new-breakthrough-therapy-cystic-fibrosis
- White, P. H., Cooley, W. C., American Academy of Pediatrics, & American Academy of Family Physicians. (2018). Supporting the health care transition from adolescence to adulthood in the medical home. Pediatrics, 142(5).
About Jessica Dronen, MS, LCGC. Jessica is a Genetic Diseases Research and Information Specialist for ThinkGenetic, Inc. She received her Master of Science in the field of Genetic Counseling at the University of Oklahoma Health Sciences Center in 2016. She has worked with both pediatric and adult patients in a variety of areas. Away from work Jessica enjoys reading memoirs, making music and spending time outside with her family.