Like millions of other Americans, Dorothy Pomerantz took a 23andme test on a whim. And like many other Americans, she received some results back that came as a surprise. Just a few weeks ago, she wrote an article in STAT News, sharing her experience of receiving BRCA positive results through 23andMe. Related Links and Resources Pomerantz, Dorothy. ”23andMe had devastating news about my health. I wish a person had delivered it.” STAT News. August 8, 2019. Robbins, R., Garde, D. Feurstein, A. ”A writer shared her story about getting frightening genetic results online. The response was surprising ..read more

Cory and her two sisters were all born with Spinal Muscular Atrophy (SMA) Type II, a hereditary and progressive neuromuscular disorder. Although she has never walked, Cory is living a full life: she enjoyed school; was an early adopter of online dating, where she met her husband; and has two healthy biological children. Cory is passionate about advocating for equal rights for those with disabilities, learning and teaching about motherhood from a wheelchair, and educating others on disability-life in general. She is a monthly blogger for the Colorado Springs Moms blog. Cory is also pleased that ..read more

Leah Moore’s oldest child, Jordan, was diagnosed with Cri du Chat syndrome when she was 18 months old. The diagnosis ushered their family into an unexpected world that meant radically different expectations for their daughter’s life. Thanks to Early Intervention, at age 8, Jordan has already surpassed initial expectations: she walks, she talks, and she loves her two younger twin brothers. Leah describes how her family is similar to and also very different from other families and provides a window into what it is like to be the mother of an 8-year-old daughter with special needs. For Leah, self ..read more

Five days after Allison’s son Isaac was born, she received a phone call from her physician’s office, telling her that her son had received positive test result on Newborn Screening (NBS). A long two days later, they were meeting with a geneticist at a hospital an hour and a half drive away, learning what a diagnosis of Glutaric Acidemia (GA-1), a rare metabolic disorder only part of NBS since the mid-2000s, meant for their son and their family. Allison is a passionate advocate for NBS and shares studies she has been involved with that point to ways to improve parents’ experience with receiving ..read more

When Missy Zolecki learned that she had a family history of Fragile X syndrome (FXS), she sought out carrier testing, thinking that she and her fiancé would not have children if she learned she was at risk for having a child with FXS. Fast forward 21 years later, Missy and her husband have been married 21 years and have three children, the oldest of whom is 18 years old and has Fragile X syndrome. Missy discusses how her religious faith influenced her decision making process around the option of IVF and Preimplantation Genetic Diagnosis (PGD), available only under a research protocol in 2000 ..read more

When Abigail Patenaude was 16 years old, routine blood work showing elevated LFTs (liver function tests) led to a diagnosis of Wilson Disease, an autosomal recessive condition which is more often diagnosed much later in life (if at all) after hepatic or neurological symptoms caused by an accumulation of copper in the body. Abigail discusses why an early diagnosis of Wilson Disease was so lucky and how her experience with genetic counseling as a patient led her to pursue a career in genetic counseling. At the time that we recorded this interview, Abigail was nearing graduation from Sarah Lawren ..read more

When Vicki was diagnosed with breast cancer for the third time at age 47, she was finally offered genetic testing and learned she carried a mutation in the BRCA2 gene. When her brother Harvey learned there was a 50/50 chance he could be carrying the same mutation, he didn’t think too much about it. Two years later, he felt a lump in his breast and was diagnosed with breast cancer. 18 months later, he was diagnosed with prostate cancer. After experiencing how hard it was to find information and support related to breast cancer in men, Harvey and Vicki were driven to found HIS Breast Cancer. The ..read more

Fran Emmolo Gamella is a young mother of two living with Familial Hypercholesterolemia. She was diagnosed with FH in her mid-20s but it wasn’t until she had a heart attack at age 31 that she became really serious about her medical care. Her six-year-old daughter has also been diagnosed with FH. Fran works as a Medical Assistant in a primary care practice setting and is passionate about raising awareness for FH. LDL of >190— definitely get it checked out! Story Reference Points: Fran’s diagnosis with FH in her mid-20s… and her 6yo daughter’s diagnosis @ 1:52 So…. what is FH? @ 7:49 23andme a ..read more

We are re-sharing an interview that has been a favorite for many listeners. May is Cystic Fibrosis Awareness Month, and Sophie is embarking on another adventure and fitness challenge. This time, it’s Crossing For A Cure—80 miles on a paddle board from Florida to the Bahamas to raise money to find a cure for Cystic Fibrosis. Sophie Grace Holmes was born with Cystic Fibrosis (CF). When she was 19, a doctor told her she was going to die within a few years. She set out to prove him wrong, quitting her office job and organizing her life around health and fitness. Sophie is now 27 years old. She is ..read more

After years of misdiagnoses, Seth Rotberg’s mother was finally diagnosed with Huntington’s Disease (HD) when he was 15 years old. At the age of 20, Seth had genetic testing and also tested positive for HD. Initially, Seth stayed in the “genetic disease closet,” telling only close friends about his positive test results and waiting 3 years to tell his father and sister. The loss of two close friends at a young age shifted Seth’s perspective, inspiring him to open up about his positive genetic testing results, to strive to live fully in the present while hoping and working toward a brighter futu ..read more