Cornelia de Lange's guest appearances

Cornelia de Lange

Sanamente

Inspiring life despite a diagnosis

Causes or Cures

CoRDS Cast

PediatricsByDrAnand 

Radio Diputados

Dr. Caio Bruzaca Médico Geneticista Podcast

Julie Ryan

Dave Smith

Greg Miller

John Kelly

Nicole LePera

Bill Gurley

Steven Hyman

Marcelo Gleiser

John McDonough

Michael O'Neill

Amanda Anderson

Stephen Rossetti

Anthony Miller

Andrew Karam

Eva Perón

OwlTail

La Comisión de Salud Pública de la Cámara de Diputados tratará un proyecto de ley, presentado por Carina Ramos, que propone instituir el segundo sábado del mes de mayo como día conmemorativo del Síndrome de Cornelia de Lange, a los fines de concientizar sobre la enfermedad y brindar apoyo a las familias.  Mariela Pastorizzo, presidenta de la Asociación Cornelia de Lange, dialogó con Radio Diputados acerca de las características de esta patología poco frecuente, que afecta a una de cada 30.000 personas y que aún es difícil de diagnosticar.

La Comisión de Salud Pública de la Cámara de Diputados tratará un proyecto de ley, presentado por Carina Ramos, que propone instituir el segundo sábado del mes de mayo como día conmemorativo del Síndrome de Cornelia de Lange, a los fines de concientizar sobre la enfermedad y brindar apoyo a las familias.  Mariela Pastorizzo, presidenta de la Asociación Cornelia de Lange, dialogó con Radio Diputados acerca de las características de esta patología poco frecuente, que afecta a una de cada 30.000 personas y que aún es difícil de diagnosticar.

Un proyecto de ley propone visibilizar el síndrome de Cornelia De Lange

Live nº 21: o que é a Sindrome Cornelia de Lange (SCdL) Transmitida originalmente no Instagram @dr.caiobruzaca em 15/09/2021.  A síndrome de Cornelia de Lange é uma condição geneticamente determinada que afeta diversas partes do corpo. Assim como muitas síndromes, apresenta uma alta variabilidade, sendo que pessoas com o mesmo diagnóstico apresentam-se com diferentes características.  Espera-se que pessoas com síndrome Cornelia de Lange apresentam-se com crescimento lento, e podem apresentar baixa estatura. Além disso, apresentam-se com atraso do desenvolvimento neuropsicomotor e posteriormente deficiência intelectual. Existem crianças com síndrome Cornelia de Lange que apresentam com alteração de comportamento e até mesmo transtorno do espectro autista.  As características faciais de pessoas com síndrome de Cornelia de Lange são muito típicas, com sobrancelhas arqueadas, juntas (monocelhas ou sinofre), cílios longos, orelhas baixas, dentes pequenos e espaçados, nariz pequeno. Existem pessoas que apresentam ainda alterações esqueléticas, com anormalidade nos ossos do braço, antebraço, mãos e dedos.

Live nº 21: o que é a Sindrome Cornelia de Lange (SCdL) Transmitida originalmente no Instagram @dr.caiobruzaca em 15/09/2021. A síndrome de Cornelia de Lange é uma condição geneticamente determinada que afeta diversas partes do corpo. Assim como muitas síndromes, apresenta uma alta variabilidade, sendo que pessoas com o mesmo diagnóstico apresentam-se com diferentes características. Espera-se que pessoas com síndrome Cornelia de Lange apresentam-se com crescimento lento, e podem apresentar baixa estatura. Além disso, apresentam-se com atraso do desenvolvimento neuropsicomotor e posteriormente deficiência intelectual. Existem crianças com síndrome Cornelia de Lange que apresentam com alteração de comportamento e até mesmo transtorno do espectro autista. As características faciais de pessoas com síndrome de Cornelia de Lange são muito típicas, com sobrancelhas arqueadas, juntas (monocelhas ou sinofre), cílios longos, orelhas baixas, dentes pequenos e espaçados, nariz pequeno. Existem pessoas que apresentam ainda alterações esqueléticas, com anormalidade nos ossos do braço, antebraço, mãos e dedos.

Live 21: o que é a Sindrome Cornelia de Lange (SCdL)

In this episode of Causes or Cures, Dr. Eeks chats with Sharonza Penson, a very talented artist and single mom in Texas. Sharonza is mom to Elijah, her beautiful four year old son.When Elijah was born, Sharonza learned that Elijah had a rare genetic disorder called Cornelia de Lange Syndrome. The doctors told her that Elijah wouldn't be able to do much and in the podcast, Sharonza talks about that day and how that conversation made her feel. While Elijah has many medical difficulties, has already undergone numerous surgeries, and is currently non-verbal, Sharonza is confident he will talk one day. Elijah has already found other ways to communicate though, including the keyboard and the drums. He has a peg tube to assist with feeding and though he's small for his age, Elijah has a larger-than-life personality. In the podcast, Sharonza discusses Elijah's medical issues and what her day-to-day looks like as Elijah's sole caretaker. In fact, she recorded the podcast from the hospital, because Elijah is there for a procedure. Sharonza is also an incredibly talented artist, and you can see for yourself on her Instagram feed. In the podcast she discusses her art, what inspires her and her goals. When Elijah was born, Sharonza left a successful career to take care of him full time, though as you can imagine, that hasn't been easy. She talks about that transition and the financial difficulties it brought, especially after a car accident that totalled her car. In fact, she sells her art and raises funds with the hope of raising enough money to purchase a new car to take Elijah to his frequent doctor appointments. After you listen to the episode, if you are interested in contacting Sharonza or seeing more of her art, you can contact her on Instagram or via email: sharonza@sharonza.com. If you are interested in contributing to her and Elijah's cause, you can do so via GoFundMe or Zelle ( sharonza@sharonza.com), Paypal (smp3716@yahoo.com), or CashApp : ($Sharonza9)    Thanks for listening and hope you find her story inspiring! To contact Dr. Eeks, do so through bloomingwellness.comTo read or listen to her new comedic parody on the sleazy side of the wellness industry, check out Yours in Wellness, Krystal Heeling on Amazon.Or you can listen to it from Google Play or Walmart! Or follow her on Instagram here. Or Facebook here.Subcribe to her newsletter here!Support the show

In this episode of Causes or Cures, Dr. Eeks chats with Sharonza Penson, a very talented artist and single mom in Texas. Sharonza is mom to Elijah, her beautiful four year old son. When Elijah was born, Sharonza learned that Elijah had a rare genetic disorder called Cornelia de Lange Syndrome. The doctors told her that Elijah wouldn't be able to do much and in the podcast, Sharonza talks about that day and how that conversation made her feel. While Elijah has many medical difficulties, has already undergone numerous surgeries, and is currently non-verbal, Sharonza is confident he will talk one day. Elijah has already found other ways to communicate though, including the keyboard and the drums. He has a peg tube to assist with feeding and though he's small for his age, Elijah has a larger-than-life personality. In the podcast, Sharonza discusses Elijah's medical issues and what her day-to-day looks like as Elijah's sole caretaker. In fact, she recorded the podcast from the hospital, because Elijah is there for a procedure. Sharonza is also an incredibly talented artist, and you can see for yourself on her <a href="https://www.instagram.com/sharonza9/" rel="nofollow" target="_blank">Instagram feed</a>. In the podcast she discusses her art, what inspires her and her goals. When Elijah was born, Sharonza left a successful career to take care of him full time, though as you can imagine, that hasn't been easy. She talks about that transition and the financial difficulties it brought, especially after a car accident that totalled her car. In fact, she sells her art and raises funds with the hope of raising enough money to purchase a new car to take Elijah to his frequent doctor appointments. After you listen to the episode, if you are interested in contacting Sharonza or seeing more of her art, you can contact her on<a href="https://www.instagram.com/sharonza9/" rel="nofollow" target="_blank"> Instagram </a>or via email: sharonza@sharonza.com. If you are interested in contributing to her and Elijah's cause, you can do so via <a href="https://www.gofundme.com/f/71n7g28" rel="nofollow" target="_blank">GoFundMe </a>or Zelle ( sharonza@sharonza.com), Paypal (smp3716@yahoo.com), or CashApp : ($Sharonza9)    Thanks for listening and hope you find her story inspiring! To contact Dr. Eeks, do so through<a href="https://www.bloomingwellness.com" rel="nofollow" target="_blank"> bloomingwellness.com</a> To read or listen to her new comedic parody on the sleazy side of the wellness industry, check out <a href="https://www.amazon.com/Yours-Wellness-Krystal-Heeling-Industry-ebook/dp/B084YYH8VR" rel="nofollow" target="_blank">Yours in Wellness, Krystal Heeling</a> on Amazon. Or you can listen to it from <a href="https://play.google.com/store/audiobooks/details?id=AQAAAEDsJldmqM&amp;gl=US&amp;hl=en-US&amp;source=productsearch&amp;utm_source=HA&amp;utm_medium=SEM&amp;utm_campaign=PLA&amp;pcampaignid=MKT-DR-na-us-1000189-Med-hasem-bk-Evergreen-Nov1417-PLA-audiobookspla*AQAAAEDsJldmqM&amp;gclid=Cj0KCQjwo6D4BRDgARIsAA6uN193r_fZFyUCe1PNVHW04Y2Y8n5GFJkZjP_OSBCvuCZz8TPaHpMVyLQaAiS4EALw_wcB&amp;gclsrc=aw.ds" rel="nofollow" target="_blank">Google Play</a> or <a href="https://www.chirpbooks.com/audiobooks/yours-in-wellness-krystal-heeling-by-erin-stair" rel="nofollow" target="_blank">Walmart! </a> Or follow her on <a href="https://www.instagram.com/doctoreeks/" rel="nofollow" target="_blank">Instagram</a> here. Or <a href="https://www.facebook.com/DoctorEeKs" rel="nofollow" target="_blank">Facebook</a> here. Subcribe to her <a href="https://visitor.r20.constantcontact.com/manage/optin?v=001g00wgP1zErs8eONOWuWhBM1AyRPzLjHX_oT2Pqxub8anrwsCVf5945QIdQgWqDnL_xCoekQ4SYoNyh0d7qbtKFLXWzTjmn1TaF3K7gfrTSLryYwrmJGh75X7MjPVhHhIx0YNx5QWx39YDro3KE_SiNC2ErM5GL-Z" rel="nofollow" target="_blank">newsletter here!</a> <a href="https://paypal.me/BloomingWellness?country.x=US&amp;locale.x=en_US" rel="payment nofollow" target="_blank">Support the show</a>

Sharonza, Elijah, Art, Life and Cornelia de Lange Syndrome