#52 Charcot Marie Tooth Interview

#52 Charcot Marie Tooth Interview

September is national awareness month for Charcot Marie Tooth (CMT)! It’s perfect timing for Bernadette Scarduzio and Allison Moore to educate us on CMT in honor of the awareness month. "Charcot-Marie-Tooth disease (CMT), named after the three doctors who first identified it, is one of the most common inherited nerve disorders. CMT affects an estimated 1 in 2,500 people in the United States and 2.6 million people worldwide, although experts believe the number could be much higher." (hnf-cure.org) Bernadette Scarduzio and Allison Moore are a passionate advocates for Charcot Marie Tooth (CMT) syndrome working for the Hereditary Neuropathy Foundation. Allison is the Founder and CEO and Bernadette is the Social Media Coordinator. Bernadette was born with CMT and lives with the syndrome every day. To raise awareness for the disease Bernadette’s life and family were featured in her self titled documentary, supported by HNF. Many of Bernadette’s family members also have the syndrome and she has made it her mission to fight for CMT. To check out the Hereditary Neuropathy Foundation’s Patient-Centered Charcot-Marie-Tooth Summit you can visit the webpage. Follow Bernadette and the Hereditary Neuropathy Foundation on social media to stay updated on Twitter (@BernsLife13 and @CMTNeuropathy), Facebook (@BernsLife and @Bernadettecmtmovie).

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Episoder(414)

#413 PKU Beyond the Diet: Food, Mental Health, and Daily Life

#413 PKU Beyond the Diet: Food, Mental Health, and Daily Life

For most people, eating is an ordinary part of the day. But when you have phenylketonuria (PKU), every meal can involve calculations, preparation, medical monitoring, and decisions that affect how you...

25 Sep 36min

#412 How Prenatal cfDNA Can Uncover Undiagnosed Maternal Cancer

#412 How Prenatal cfDNA Can Uncover Undiagnosed Maternal Cancer

Prenatal cell-free DNA screening is designed to assess a pregnancy for chromosome conditions; but in rare cases, it can reveal something entirely unexpected about the pregnant patient’s own health. In...

18 Sep 36min

#411 Mock Cancer Genetic Counseling Session: Colon Cancer and Lynch Syndrome

#411 Mock Cancer Genetic Counseling Session: Colon Cancer and Lynch Syndrome

What happens during genetic counseling after someone develops colon cancer at a young age and their tumor testing raises concern for Lynch syndrome? This is the eighth installment in our Mock Genetic ...

11 Sep 30min

#410 Gypsy Rose Blanchard’s 1q21.1 Microdeletion: What Does It Explain?

#410 Gypsy Rose Blanchard’s 1q21.1 Microdeletion: What Does It Explain?

This episode drop from the PRETEND podcast series “The Gypsy Rose Obsession” features Kira Dineen explaining what Gypsy Rose Blanchard’s genetic test result may, and may not, mean. Gypsy Rose Blanchar...

4 Sep 43min

#409 How DNA Testing Exposed the Dark History of American Adoption

#409 How DNA Testing Exposed the Dark History of American Adoption

What happens when stigma, secrecy, and institutional power separate a mother from her child, and prevent an adoptee from accessing his own identity and medical history for decades? This week, we are s...

28 Aug 43min

#408 Low ALP, Fractures, and Early Tooth Loss Point to Hypophosphatasia

#408 Low ALP, Fractures, and Early Tooth Loss Point to Hypophosphatasia

Hypophosphatasia (HPP) can present very differently from one person to the next, from life-threatening complications in infancy to fractures, chronic pain, muscle weakness, or early tooth loss later i...

21 Aug 37min

#407 NFL and Kansas City Chiefs Star Art Still on the Missed Signs of Hereditary Amyloidosis

#407 NFL and Kansas City Chiefs Star Art Still on the Missed Signs of Hereditary Amyloidosis

What happens when the symptoms of a genetic condition look like the lasting effects of a professional football career? Former NFL defensive end and Kansas City Chiefs star Art Still spent decades attr...

14 Aug 39min

#406 Mock Teratogen Genetic Counseling Session: Ozempic, Zoloft, Xanax, and Metformin

#406 Mock Teratogen Genetic Counseling Session: Ozempic, Zoloft, Xanax, and Metformin

This is our seventh installment in our Mock Genetic Counseling Session Series! In this episode, genetic counselor and teratogen information specialist Sharon Voyer Lavigne and student Edith Atwerebour...

7 Aug 30min

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