Rare Connection

Rare Connection Episode 1: Homocystinuria (HCU) Jenifer from Cananda

February 09, 2024 Joanna
Rare Connection Episode 1: Homocystinuria (HCU) Jenifer from Cananda
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Rare Connection
Rare Connection Episode 1: Homocystinuria (HCU) Jenifer from Cananda
Feb 09, 2024
Joanna

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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.

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Show Notes Chapter Markers

Send us a Text Message.

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.

Support the Show.

diagnosis journey with Homocystinuria
challenges with managing HCU
HCU explained
Symptoms of HCU
Misconceptions of HCU
advocacy and empowerment
Sup[port networks
coverage for medical foods
coverage for tollerance
Most pressing issues for rare disease community
Advice for those living with HCU and their caregivers
advancements
Future of advocacy