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

Send us Fan MailIn 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.Chapter Markers00:00 Intro 04:26 Jenifer's diagnosis story05:34 challenges as an older HCU patient06:14 Homocystinuria explained06:12 Symptoms07:50 Jenifer's age08:24 Misconceptions 09:01 blood clot (Heart =heart attack, Lungs = Embolism. brain = stroke legs= deep vein thrombosis)09:40 How HCU has shaped Jenifer's perspective on advocacy10:40 Support Networks & resources11:59 Protein daily tolerance12:39 Medical food& Formula coverage in Canada14:41 Most pressing issues facung the rare disease community today15:21 Advice to others18:06 Advancements in research19:38 Jenifer;s role in Advocacy20:24 ConclusionSupport the show