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Listen in as I talk with Valerie a mother of 18 year old Summer who was diagnosed late with Classical Homocystinuria.  A rare genetic condition that can be fatal if not caught early.  As a result of her late diagnosis Valerie's child Summer had strokes in utero which caused learning disabilities.   You can learn more about Homocystinuria (HCU) at hcunetworkamerica.org.  You can learn about the Medical Nutrition Equity act (MNEA) at nutritonequity.org.  and you can learn about newborn screening and what conditions it covers in your state at https://newbornscreening.hrsa.gov/your-state  If you visit the MNEA website please fill out the form and right your local house and senate especially if you have a republican in your state that might reintroduce the bill.  Newborn screening has been up for reauthorization for the past few years and it hasn't passed in all states.  As long as Newborn Screening doesn't have funding new tests can't be added putting young lives at risk.

Chapter Markers

00:00 Intro
05:27 Diagnosis story
13:20 Fellings about the diagnosis
15:39 Challenges And difficulties in the beginning
21:07 Managing diet &sources of support
26:35 How Valerie helps Summer overcome obstacles &limitations of HCU
33:12 Barriers in accessing quality care
39:25 Why Valerie supports The Medical Nutrition Equity Act and how it would help patients
43:54 Summer's Achievements & milestones
47:06 Conclusion

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