Patient Stories with Grey Genetics

Kevin Alexander is a professional videographer. He also has an inherited metabolic condition, PKU (phenylketonuria). Thanks to Newborn Screening, Kevin was diagnosed with PKU just 9 days after birth and immediately put on dietary treatment. With a carefully monitored diet, Kevin has been able to live an otherwise normal life. In the 1960s, PKU was the first condition to be tested for as part of Ne...

At 43 years old, Elise Roth Tedeschi was diagnosed with Stage IV pancreatic cancer. She subsequently learned that she carried the same mutation in the BRCA2 gene that her sister Cari, a breast cancer survivor, had previously been found to carry. Elise also learned that this same BRCA2 mutation that had made her more susceptible to developing pancreatic cancer in the first place also increased her...

Darlena Cunha is a 36-year-old freelance writer and journalism professor at the University of Florida. When Darlena was in her early 30s, her mother, in her 50s with no personal history of breast cancer but a significant family history of cancer, sought out genetic testing and learned that she carried a mutation in the BRCA1 gene. Darlena learned that she carried the same mutation and began the jo...

At just 34 years old, Karla felt a lump that turned out to be breast cancer, first diagnosed as stage 2 and then as stage 3. Like many young women with breast cancer, Karla’s genetic testing results were negative, leaving her without an explanation for why she was diagnosed with an aggressive breast cancer at such a young age. Karla is an ambassador for the Cancer Treatment Centers of America and...

Jenn Perry grew up surrounded by cancer. She lost her mother to breast cancer, and she and her younger sister later also developed breast cancer. At age 42, she received a genetic diagnosis that explained the pattern of cancer in her family: Li-Fraumeni syndrome. In 2010, shortly after her diagnosis, Jenn attended the first Li-Fraumeni conference, which brought together both Li-Fraumeni patients a...

At just 13, Heather lost her mother to breast cancer. Fifteen years later, a mother herself, Heather had genetic testing done and learned that she carried a mutation in a BRCA gene. Heather shares her experience as a previvor--from genetic counseling to finding the right doctors to her continued involvement in the BRCA community and the many changes she’s witnessed since she was tested in 2005. St...

Mary Adeturinmo is a 25-year-old University graduate who studied Architecture. She also has Sickle Cell Disease. Due to health challenges, she has spent a lot of time in recovery as well as promoting and raising awareness for Sickle Cell Disease. She is part of the B Positive Choir which raises awareness about the importance of blood donations as well as Sickle Cell Disease. The B Positive Choir w...

Tawny Rother is 34 years old, recently engaged and a mom to three children. Two years ago, she lost her mother to ovarian cancer. Her mother carried a mutation in a gene called RAD51D, which increases the risk for ovarian cancer. Tawny learned she carried the same RAD51D mutation as her mother. Both of her grandmothers had also died of ovarian cancer. Determined to break the cycle, Tawny recently...

As a new mother and young college student, Jennifer McNary noticed that her first son, Austin, wasn’t meeting his developmental milestones, but it wasn’t until he was 3 years old that Austin was diagnosed with Duchenne Muscular Dystrophy. The same diagnosis would follow for his younger brother, Max. Today, Jenn is the mother of four children as well as an advocate, public speaker and consultant in...

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 a fitness model, a trainer, a massage therapist and a motivational speaker. She thrives on challenges, and her many accomplish...

Charlotte Peinhardt was born with a cleft lip and cleft palate in a small town in Alabama in the 1980s. Her parents’ surprise in the delivery room was later followed by her own realization in elementary school that she looked different from other children. Charlotte shares her story of growing up with this difference even as she underwent numerous corrective surgeries that ultimately ended with an...

Patient Stories is on summer break this week, so we don' t have a new episode to share with you. But we do want to tell you about a related project we’re working on. We're also sharing a few clips from past interviews with you. Keep the emails coming! Find some of our past interviewees on social media: Melanie on Twitter @mbreaul1 and on Instagram Nori on LinkedIn Colleen on Twitter @cmccready73 R...

Genetic Counselor Christina Kresge talks about her most memorable cases from providing pediatric and adult genetic counseling services to an underserved population in and around Newark, NJ over the past eight years. She also shares her own recent experience as a patient going through her first pregnancy, grappling with the implications of a positive carrier testing result. Story Reference Points:...

Caroline Lieber was on a pre-med track in college in 1973 when she first heard about the new field of genetic counseling. Her career plans changed that day. Forty-five years later, after 18 years of clinical experience, 15 years as the Director of the Human Genetics Program at Sarah Lawrence College, and 5+ years working as a consultant for commercial genetic testing labs and newly minted Genetic...

Rachelle Dixon shares her story of growing up around "the family disease," eventually diagnosed as HSAN1E--a rare, hereditary, degenerative neurological condition that claimed the lives of her mother and two of her siblings. Rachelle is the President and Co-Founder of the HSAN1E Society, an advocate for rare diseases, and a frequent speaker on caregiving for individuals with rare diseases. Links a...

Colleen McCready shares her lifelong struggle with Familial Hypercholesterolemia, a condition that affects ~1/250 individuals yet is undiagnosed in an estimated 90% of those affected. She discusses how she was diagnosed, how FH has impacted her life, issues surrounding genetic discrimination, and her role as an Advocate with the FH Foundation. Links and Resources The Familial Hypercholesterolemia...

The first genetic counselor to work within a Medical Examiner’s Office, Nori Williams, MS, CGC talks about how she works with families after the loss of a loved one from Sudden Unexplained Death that turns out to have an underlying cardiogenetic cause. She shares stories of grief, resiliency and hope from families she has worked with, helping them to understand what their loved one’s genetic testi...

Melanie Breault discusses the impact Lynch syndrome has on her life and how it affects her views on women's health, disparities in healthcare, and patient care. Links and Resources AliveAndKickn FORCE Find Melanie on Twitter and Instagram: @mbreaul1 Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient...

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