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.
Connect
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
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Listen on Spotify, iTunes, Google Play, or Online.
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
Do you need genetic counseling?
Book a session with a genetic counselor on our network.
Would you like to support Patient Stories?
Donate $1 to Patient Stories. Your support means the world.