Category Archives: Our Stories

Kennedy’s Story

When Kennedy was three she had slight difficulty climbing stairs and fell a lot. She also walks on her tiptoes. It was hard to let doctors see this in an office setting. We started out ruling out a slight cerebral palsy, also wore AFO’s thinking she was just a tippy toe walker. I was told […]

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Lilly’s Story

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

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

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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Robert’s story

My name is Robert.  I was born in 1967 in Georgia and had no birth complications.  I have lived in the Southeast for my entire life.   In 2006, I, as well as my older brother, was diagnosed with Autosomal recessive Bethlem Myopathy. My brother and I share many of the same symptoms and while he’s […]

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Ana’s story

Ana es una niña de 5 años fenomenal, muy alegre y divertida. Toda la fuerza que le falta en los músculos la tiene en la lengua, ya que no para de hablar y cantar en todo el día ya sea en español o en inglés ya que va a un colegio británico.

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John’s Story

John was diagnosed with Ullrich’s CMD December 2010 at 2 ½ years of age.  By the time we got the diagnosis it wasn’t a surprise, but there was a long journey to get to that point.  John is the son of Jennifer and Charles and the younger brother of Owen.

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Yuchen’s story: I Wish

盼我深吸了一口气,咬紧了牙关,双臂使劲地撑住桌面,我感觉到双腿的颤抖,我尽量把重量放到腿上去,努力扶着桌子站了起来,汗从头上滴落,一滴一滴地落到桌面上,迸散开来,我心里默默念着,“坚持、坚持”就在我几乎站不住的时候,我完成了规定时间的锻炼。瘫坐在椅子上休息片刻后,我又开始了下一组的练习……这对于正常人来说是再简单不过的事情了,可对于我来说,每一次的站立锻炼,都要付出很多的努力。

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Yuchen’s story (as told by his mother)

再过两天儿子就满十岁了,十年了,他陪伴在我身边已经十个年头了,这十年来,我不知道为他掉了多少的眼泪,但我仍然很坚定的说,他是我最好的孩子,虽然他的身体状况使我感觉到伤心,但拥有他是我今生最大的快乐。肌无力,我以前从来没有听说过这种病,但它却无情的出现在我儿子的身上,出生后三天因为吸入性肺炎而

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Nicolas’ story

Nicolas is 4 years old.   He was recently diagnosed with L-CMD a muscular disease caused by a mutation in the LMNA gene.  L-CMD is a muscle wasting disorder that also leads to breathing and heart problems.  My husband Ruben, myself and our 4 children live in Florida.  We are still trying to cope with this […]

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  • Congenital Muscular Dystrophy

    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...

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