Author Archives: anne_rutkowski

Patient Organizations and Research on Rare Disease

By anne_rutkowski | Published: March 20, 2011

Click here to read a NEJM article on the power of advocacy

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TREAT-NMD Newsletter: CMD Scientific Resources

By anne_rutkowski | Published: March 13, 2011

Online scientific resources are now available for researchers in the field of congenital muscular dystrophy (CMD). Two new links were created for researchers working to develop potential CMD treatments. In close collaboration with Cure CMD, a summary of mouse models for the different CMD diseases with links to detailed descriptions was uploaded. Three biobanks for [...]

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CMD Perspectives: A Journal

By anne_rutkowski | Published: February 25, 2011

Join us each month as we publish CMD perspectives articles to highlight how we live our lives, and tricks we have learned to get by and make our lives easier. This month, Anne Schrooten and Joe Pinkelman lend their perspectives on the importance of connecting, whether through talk, touch or sign language; ways in which [...]

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The Road Ain’t Straight: It’s the Peaks You Wait For!

By anne_rutkowski | Published: February 25, 2011

By Kimm Eckhoff Transitioning Demi into college began several years prior to her high school graduation. I approached Vocational Rehabilitation and Demi went through their testing to determine that she would receive services, and that she had the intelligence to realistically pursue a college degree. VR also suggested she attend several workshops they offer, from [...]

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To Exercise or Not To Exercise?

By anne_rutkowski | Published: February 25, 2011

By Mary Gallo “To Exercise or Not To Exercise?” This is an important question to ask before considering a workout program for a person living with a muscle disease. You want to try and build muscle, but if you overdo it, working out can leave your muscles feeling “wasted” and weaker than when you started. [...]

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Lilly’s Story

By anne_rutkowski | Published: February 21, 2011

Lilly (5 Jahre alt) wurde in der 41. Schwangerschaftswoche per Kaiserschnitt geboren, nachdem sich der natürliche Geburtsverlauf zweimalig wieder einstellte. Am ersten Lebenstag entdeckten wir, dass ihr linkes Auge vergrößert und entzündet zu sein schien. In einer Narkoseuntersuchung wurde festgestellt, dass das linke Auge eine komplexe Fehlbildung aufweist und blind ist, rechtsseitig besteht ein zentraler [...]

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Andres’ Story

By anne_rutkowski | Published: February 20, 2011

Andrés nació en Julio de 2003 en España, donde vivimos. Hace unas semanas, y gracias a la intervención de CMDIR que gestionó un ensayo genético en Paris (Francia), se ha detectado que tiene L-CMD (Laminopathy Lamin A/C). Para nosotros ha sido algo fantástico porque pensábamos que nunca conoceríamos exactamente su enfermedad después de 7 años [...]

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Bean’s story

By anne_rutkowski | Published: February 17, 2011

Our little Isabelle, aka, Bean, was our third child. Due to her breach position, she entered the world via c-section. Despite many troubles right away with nursing, we considered her to be a normal, healthy, beautiful baby. She was born with contractures at her ankles, but they thought this was just club feet and would [...]

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2nd CMD Science Town Hall Meeting: Saturday March 19th

By anne_rutkowski | Published: February 14, 2011

Join us for the 2nd CMD Science Town Hall Meeting as we talk with Dr. Dean Burkin, Dr. Ana Ferreiro and Dr. Jim Collins about their CMD research funded by Cure CMD/SAM in 2009. This online (webex) and audio conference call will be moderated by Cure CMD Chairman, Anne Rutkowski, MD and Cure CMD SMAB [...]

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