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In this episode we talk ro Kelly Waters the national Homocystinuria (HCU) Represntative about Homocystinuria and her advocacy work.  We also discus her symptoms, diagnosis, and how you can help advance treatment.  I am working on a visual version of this podcast also which I hope to have up in a couple weeks.  It had to be retaped.

Chapter Markers

00:00 Intro
00:24 introducing Kelly
00:52 What is Homocystinuria AKA HCU?
01:22 Diagnosis & symptoms
04:00 Medical Foods
04:34 Kelly/s mother tells her she has HCU
07:15 How Kelly became the National HCU Representative
09:27 Eye Surgery
12:31 Kelly Meets Danae Bartke the Executive Director of HCU Network America
14:00 Newborn Screening in Michigan
15:54 Coverage varies from State to state
17:39 Getting through to Reps that aren't in the same state'
18:19 Baby Formula Recall Affected Medical Formula also
23:25 Cystadane AKA Betaine
25:37 Medical cheeseyou can have a medical condition without symptoms
27:47 Kelly is not paid for her work
28:14 How you can help
28:25 You can have a medical condition & not have all the symptoms
31:13 HCU life expectancy story
36:05 Travel for care
37:03 Messed up labs
39:06 Clinical trial for HCU
46:28 Extreme myopia
47:13 Conclusion

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