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Rare Connection Episode 1: Homocystinuria (HCU) Jenifer from Cananda
Manage episode 400620896 series 3485028
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In this episode Jenifer tells her story about how she was diagnosed with Homocystinuria (HCU) and how she was diagnosed. She will tell where she goes for help and other resources that have helped her along the way. At 55 Jenifer is one of the older HCU patients. At one time they thought that those with Homocystinuria wouldn't live past the age of 30. Today thanks to advances in medicine the oldest known person alive with it is well into her 70's. Everyone has a set amount of protein that can have per day normally anything above 20 grams per day is considered high. Patients not only follow a low protein diet, but they also take a medically prescribed formula that is a lifelong thing.
Chapters
1. Rare Connection Episode 1: Homocystinuria (HCU) Jenifer from Cananda (00:00:00)
2. diagnosis journey with Homocystinuria (00:04:27)
3. challenges with managing HCU (00:05:31)
4. HCU explained (00:06:14)
5. Symptoms of HCU (00:06:54)
6. Misconceptions of HCU (00:08:13)
7. advocacy and empowerment (00:09:29)
8. Sup[port networks (00:10:29)
9. coverage for medical foods (00:11:44)
10. coverage for tollerance (00:12:29)
11. Most pressing issues for rare disease community (00:13:19)
12. Advice for those living with HCU and their caregivers (00:15:10)
13. advancements (00:17:29)
14. Future of advocacy (00:19:02)
49 episodes
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