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This 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 Markers

0:00 Intro
04:11 Diagnosis story
10:20 Early signs that led to testimg
13:39 Getting low pro foods & formula in Uruguay
17:47 Callenges faced in maintaining a consistent treatment plan
19:39 Daily life as far as school, extra caricular activities and social interactions
23:19 Low protein diet
26:31 Educating medical proffessionals
29:05 Improvements Anna would like to see in Uruguay
30:39 Newborn screening in Uruguay
32:03 How connecting with HCU Network America affected Juana
33:39 Insights into Juana's perspective on living with HCU
38:13 Life expectancy and undiagnosed
39:00 Hopes for the future
40:20 Advice to other HCU parents & patients
41:44 HCU Awareness activities
44:18 Resources
45:23 Conclusion

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