Homocystinuria Awareness Month: Classical Homocystinuria with Anna from Uruguay

Send us Fan MailThis episode marks my second HCU Awareness month doing podcasting, and my 3rd international episode,  In this episode I talk with Anna about her 12 year old daughter Juana who was diagnosed with Classical Homocystinuria.  She was the first to be diagnosed with Classical HCU in Uruguay. Learn how Anna gets testing done in a country where Homocystinuria is not known about.    The struggles they face with getting medically prescribed foods and formula.  How they spread awareness, and how they  deal with the social pressures of HCU.Chapter Markers0:00 Intro04:11 Diagnosis story10:20 Early signs that led to testimg13:39 Getting low pro foods & formula in Uruguay17:47 Callenges faced in maintaining a consistent treatment plan19:39 Daily life as far as school, extra caricular activities and social interactions23:19 Low protein diet26:31 Educating medical proffessionals29:05 Improvements Anna would like to see in Uruguay30:39 Newborn screening in Uruguay32:03 How connecting with HCU Network America affected Juana33:39 Insights into Juana's perspective on living with HCU38:13 Life expectancy and undiagnosed39:00 Hopes for the future40:20 Advice to other HCU parents & patients41:44 HCU Awareness activities44:18 Resources45:23 ConclusionSupport the show