Nutrition Equity Episode 12: HCU Awareness Month Cobalamin G Heather Parent Artwork

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

Nutrition Equity Episode 12: HCU Awareness Month Cobalamin G Heather Parent

October 25, 2023 • Joanna

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In this episode I talk with Heather a parent of a child with Cobalamin G. Cobalmin disorders are named for the order in which they were discovered. Some Cobalmin disorders fall under the Homocystinuria Family, some are Methyl Malonic acidemia's and some are both. They are tested for on Newborn screening, but often missed. Heather's child Kodi is one of the children who almost lost his life to Cobalamin G. Kodi suffers from Seizures and Cerebral Palzy as a result of late diagnosis and he is also tube fed through a feeding tube that is surgically inserted into his stomach. Thanks to a medical student he lives today. He is can say a couple words, and he signs, but for the most part at 3 years old he is non-verbal. If you would like to help us fight for the Medical Nutrition Equity act please visit nutritionequity.org. On the website you can read patient stories, see state by state coverage, write your senate and house reps and much more. Please consider subscribing to this podcast and writing a review. You can also support the effort by donating to it, anything you are willing to give could greatly help the cause. Thanks you for listening. https://www.buzzsprout.com/2204433/monetization/supporter_settings

Chapter Markers

0:00:00 Intro
0:02:33 What is Cobalamin G & how does it effect Heather's Families lives
0:07:46 How Cody was diagnosed
0:14:34 Daily Struggles
0:22:18 Cody's favorite foods
0:31:42 How the passage of the MNEA would help Cody
0:34:12 Milestones Achieved as an advocate
0:37:34 Personal stories
0:41:32 The need for awareness & support for people with metabolic disorders
0:43:42 How you can understand and empathise with metabolic patients
0:48:01 Resources
0:51:12 Hopes for the future
0:53:03 Advice for newly diagnosed patients
0:55:56 Conclusion

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