Homocystinuria: A Rare Disease Often Missed on Newborn Screening - a podcast by Grey Genetics
from 2019-02-19T10:30:02
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
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
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