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:

Patient story #1: Myotonic Dystrophy @ 4:34

Patient story #2: Sialidosis @ 9:15

Patient story #3: A rare recessive condition and an unexpected finding on microarray @ 14:49

Patient story #4: Newborn Screening and Homocystinuria @ 22:49

Patient story #5: Christina’s own story with prenatal carrier testing @ 25:41

Information on Myotonic Dystrophy from the Muscular Dystrophy Association

Facebook group for Sialidosis

Information and Resources related to High ROH (Regions of Homozygosity)

Newborn Screening Resource

National Organization for Rare Diseases (NORD)

Rare Advocacy Movement (RAM)

Read other Patient Stories on the Grey Genetics Patient Stories Page

You can now make a donation online!

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast

Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.