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.
Read Danaé’s story along with other Patient Stories on the Grey Genetics Patient Stories Page
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More on Newborn Screening: Baby’s First Test
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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
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