Homocystinuria: A Rare Disease Often Missed on Newborn Screening

Danaé was 10 years old when her younger brother’s lens dislocation led to her own diagnosis of Homocystinuria (HCU). When Danaé was 24 years old, she developed a blood clot in her wrist that served as a wake-up call for her to focus on her health and to learn how to eat a low-protein diet. She became involved with the local PKU Organization of Illinois, connecting with others who had a different diagnosis but similar dietary restrictions. Today, Danaé is the co-founder and Executive Director of HCU Network America, whose mission is to help patients with HCU and related disorders manage their disease and find a cure. Story Reference Points: What is Homocystinuria (HCU)? @ 1:50 Danaé’s path to a diagnosis @ 3:30 Treatment for Homocystinuria @ 12:26 HCU: A Challenge for Newborn Screening @ 14:58 Danaé’s turning point: a blood clot in wrist @ 19:07 Connecting with a local PKU organization and tackling the challenges of a low-protein diet @ 25:11 The beginnings of HCU Network America @ 33:42 HCU Network America’s work and NBS challenges @ 40:32 HCU Network America’s challenges in reaching metabolic clinics @ 46:47 Importance of and lack of access to metabolic dietitians, particularly during pregnancy @ 52:39 Shout out to Kisha Johnson, Danaé’s metabolic genetic counselor @ 57:41 Links and Resources HCU Network America Read Danaé’s story along with other Patient Stories on the Grey Genetics Patient Stories Page Find a metabolic clinic that treats patients with homocystinuria Additional metabolic clinics More on Newborn Screening: Baby’s First Test Connect with HCU Network America on Social Media: HCU Network America on Twitter: @HCUAmerica HCU Network America on Instagram: @hcu_network_america HCU Network America on Facebook HCU Network America on YouTube Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? 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 Are you looking for genetic counseling? 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.