Genetic Counselors

Genetic counselors are health professionals who are trained to help families understand genetic disorders and to provide information and support to those families. They may also serve as patient advocates by referring individuals or families to local services that can be of assistance.

Genetic research is a powerful tool for treating medical conditions, but it is still a new tool. Many people whose families are affected by genetic disorders don't understand how it will affect their lives. Even genetic researchers and doctors don't fully understand how genes cause all genetic disorders. Genetic counselors work with doctors and families to help families get the information they need to understand the disorder.

Invite a genetic counselor to give a community talk about the role of genetic counseling, various genetic disorders, or the importance of discussing your family health history with your medical provider. You can find a genetic counselor from the website of the National Society of Genetic Counselors.

Young Readers

• The Adventures of the Sickler: The Transformation | Parker Todd | Scribble Scrabble Publishing | 2017 | 36 pages | ISBN: 978-0999364000
• Mallory's 65 Roses | Diane Shader Smith | Independently published | 1997 | 24 pages | ISBN: 978-0970035301
• My Genes Don't Fit Right!: Understanding the genetic inheritance pattern of cystic fibrosis | Abigail McKernon | Independently published | 2019 | 27 pages | ISBN: 978-179755029
• Mom's Genes | Shannon Pulaski | Cure Media Group, LLC | 2018 | 29 pages | ISBN: 978-099976660

Learn.Genetics

We all have genes that don't work properly. In most cases, the other copy of the gene makes up for the one that does not work properly and we are healthy. A problem only arises if we meet someone else who has a non-working copy of the same gene and we have a child who inherits two non-working copies of that gene. This is called recessive inheritance.

Sometimes if one of our genes is not working properly the other copy of the gene cannot make up for it and that causes a condition or an increased risk of developing a condition. Each time we have a child we randomly pass on one copy of each gene. If the child inherits the copy that doesn't work properly, they too may develop the condition. This is called dominant inheritance.

Examples of Single Gene Disorders
Examples of Multifactorial Gene Disorders

Book

Diagnosed with cystic fibrosis at the age of three, Mallory Smith grew up to be a determined, talented young woman who inspired others even as she privately raged against her illness. Despite the daily challenges of endless medical treatments and a deep understanding that she’d never lead a normal life, Mallory was determined to “Live Happy,” a mantra she followed until her death. Mallory worked hard to make the most out of the limited time she had, graduating Phi Beta Kappa from Stanford University, becoming a cystic fibrosis advocate well known in the CF community, and embarking on a career as a professional writer. Along the way, she cultivated countless intimate friendships and ultimately found love. 

Salt in My Soul: An Unfinished Life | Mallory Smith | Random House Trade Paperbacks | 2020 reprint | 336 pages | ISBN: 978-1984855442 | Official Website

Author

Mallory Smith, who grew up in Los Angeles, was a freelance writer and editor specializing in environmental issues, social justice, and healthcare-related communications. She graduated Phi Beta Kappa from Stanford University and worked as a senior producer at Green Grid Radio, an environmental storytelling radio show, and podcast. Her radio work was featured on KCRW, National Radio Project, and State of the Human. She was a fierce advocate for those who suffered from cystic fibrosis, launching the viral social media campaign Lunges4Lungs with friends and raising over $5 million with her parents for CF research through the annual Mallory’s Garden event. She died at the age of twenty-five on November 15, 2017, two months after receiving a double-lung transplant. Mallory’s Legacy Fund has been established in her memory at the Cystic Fibrosis Foundation.

Book

A Sick Life chronicles Tionne’s journey from a sickly young girl in Des Moines who was told she wouldn’t live to see 30 through her teen years in Atlanta to how she broke into the music scene and became the superstar musician and sickle-cell disease advocate she is today. Through Tionne’s tough, funny, tell-it-like-it-is voice, she shares how she found the inner strength, grit, and determination to live her dream, despite her often unpredictable and debilitating health issues. She dives deep into never-before-told TLC stories, including accounts of her friendship with Lisa “Left-Eye” Lopes and her tragic death. Tionne’s unvarnished discussion of her remarkable life, disease, unending strength, and ability to power through the odds offers a story like no other. 

A Sick Life | Tionne Watkins | Rodale Books | 2017 | 256 pages | ISBN: 978-1623368616

Author

As the lead singer of Grammy-winning supergroup TLC, Tionne “T-Boz” Watkins has seen phenomenal fame, success, and critical acclaim. But backstage, she has lived a dual life. In addition to the balancing act of juggling an all-consuming music career and her family, Tionne has struggled her whole life with sickle-cell disease—a debilitating and incurable condition that can render her unable to perform, walk, or even breathe. This is her candid memoir of fame, strength, family, and friendship. Tionne is a national spokesperson for sickle-cell disease. She lives in Los Angeles with her daughter, Chase, and son, Chance.