Rare Connection

Formerly Nutrition Equity, rare connection is an extension of the podcast to include all 10,000 rare conditions and not just those covered by the Medical Nutrition Equity Act. Some of the conditions may be the same, but I am trying to turn this into a learning experience for those in the medical feild, policy leaders, and those who are just interested in hearing about rare conditions and patient stories. Rare conditions are called zebras hence the zebra striped ribbon. More common conditions are called horses. Doctors tend to learn a lot about the common conditions, but rare conditions are a paragraph in a text book at best because the medical field isn't looking at the whole picture. Rare conditions when combined are actually bigger than cancer and strokes combined and if you have a rare condition you most likely have more than one or will develop another within your lifetime. As someone with a rare condition myself (Homocystinuria or HCU), know that having a rare condition can be very lonely. Thereis normally a phsycological aspect to any rare condition, and because of lack of understanding they often go undiagnosed or misdiagnosed which can cause serious health consequences or even death. If you are interested in talking and feel comfortable on camera please contact me at joanna.ball41@gmail.com. I have a visual version of this podcast on YouTube also under my cooking channel Rare Chef.

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Rare Connection

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

February 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.

Chapter Markers

00:00 Intro
04:26 Jenifer's diagnosis story
05:34 challenges as an older HCU patient
06:14 Homocystinuria explained
06:12 Symptoms
07:50 Jenifer's age
08:24 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 advocacy
10:40 Support Networks & resources
11:59 Protein daily tolerance
12:39 Medical food& Formula coverage in Canada
14:41 Most pressing issues facung the rare disease community today
15:21 Advice to others
18:06 Advancements in research
19:38 Jenifer;s role in Advocacy
20:24 Conclusion

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