Congenital Muscular Dystrophy Newborn Screening Awareness Month 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

Congenital Muscular Dystrophy Newborn Screening Awareness Month

September 09, 2024 • Joanna • Season 3 • Episode 6

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Despite Congenital Muscular Dystrophy not being tested for at birth, some companies are working on getting it passed. This is Newborn Screening Awareness Month. Since the bill hasn't been reauthorized in all states lack of funding could be harming those who are born with new conditions that may or may not be able to be tested depending on the state. It is important to raise awareness for this important cause. That is why I have made September about Newborn Screening Among rare diseases it can be hard to find people with conditions on the newborn screening. Many still know of newborn screening as the PKU test since it is the first condition that it tested for. Some also know it as the heal prick. Newborn Screening now tests for over 75 different genetic conditions as well as a hearing test. Some conditions also that aren't intentionally tested for may also be picked up. This episode is mostly about newborn screening, but their are other aspects of CMD as well as the foundation Cure CMD. You can visit the website at curecmd.org. Do to a choppy recording my part was rerecorded after the interview for the most part and is probably clearer hear than on the original video podcast. I will work on finding a different location in my home for future broadcasts.

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