Our Stories

If you wish to contribute your story and picture, please contact info@curecmd.org

Aubrey’s Story

We welcomed Aubrey, our second beautiful daughter, into our family in May 2006. After an uneventful pregnancy and delivery, Aubrey spent her first 2 days in the NICU due to a couple “dusky spells” the nurse noticed. However, when blood work came back unremarkable and no other instances occurred, she came home with us. After about a week at home, we felt that something just wasn’t right. When we took her to our pediatrician, she commented that Aubrey seemed “floppy.” Continue reading Aubrey’s Story

Liam’s Story

img_27261Liam was born June, 2006 in Denmark. Almost from birth, we realized there was something not quite right, as he was very floppy and did not move his arms and legs much. We raised our concerns with our local GP, who dismissed our fears on many occasions stating that all kids develop differently. However, when Liam was 4 months old, he still had bad head control and was unable to lift his head off the floor when placed on his tummy. So, we eventually got him referred to a pediatrician. Continue reading Liam’s Story

Kelly’s Story

Kelly (Ullrich CMD) is 28 years old and working toward her PhD in Creative Writing/Literature at the University of Houston. She tells her own story very well (often poetically), but she asked me, her mom, to write it for the website because she is very busy finishing up summer school teaching and getting ready for the fall semester. She also has another project – she has been spending every Sunday with my mom (Kelly’s grandma), who recently moved to an assisted living facility in Baytown near my brother (about 45 minutes from Kelly’s apartment). Kelly and Grandma have always been close, and she has been a tremendous blessing by taking her to church and “hanging out” with her on Sundays. Continue reading Kelly’s Story

Aidan’s Story

AidanAidan was born in April 2009. We were so thankful that he arrived safely and healthy. Aidan was 7 lbs 14oz — much smaller than his brother Craig who was 9lbs 2oz when he was born in 2003. The first 2 months while on maternity leave, I cherished the days I had with Aidan. Craig was in kindergarten for about three hours and I was happy to have that time to spend with Aidan. Continue reading Aidan’s Story

Simon’s Story

I was born on September 1982 in Sydney, Australia to Filipino parents who immigrated to Australia in 1976. My birth was normal but my parents noticed that I was not progressing physically as quickly as other infants. After numerous visits, tests, and a muscle biopsy by doctors, I was diagnosed with Congenital Muscular Dystrophy when I was 2 years old. Continue reading Simon’s Story

Philip Ryan’s story

Philip Ryan

The journey with Philip Ryan has been extraordinary. I have trouble just starting to write. I have not kept a journal but do have all of his records. He is an amazing boy. We love him so very much. He came as a little teacher for everyone who is willing to receive what he has to offer. We have had many terrific losses. Continue reading Philip Ryan’s story

Sophie’s Story

Sophie was a quiet baby with very little crying and seemed very floppy. She took her time over her feeds as she tired of sucking quickly. We knew that at six weeks old Sophie had a general weakness and Doctors diagnosed her with having Cerebral Palsy. There were many questions asked about what the future would be for Sophie. She would just look up with the question in her eyes “what’s wrong mummy?” Continue reading Sophie’s Story

Maia’s Story

Maia has congenital muscular dystrophy. When she was eight months old, we noticed that she still wasn’t sitting up, had difficulty holding her head up and spent most of her time lying on her back. We took her in to see the pediatrician who initially in a moment of shock, at how she had fallen off the growth charts and not attained many developmental milestones, diagnosed her with cerebral palsy. Continue reading Maia’s Story

Jake’s story

We were sent directly to the hospital from what was supposed to be a 35 week routine check up. My amniotic fluid was low and I was measuring small. After 35 weeks of a normal pregnancy, Jake was born by c-section on December 24, 2003 due to low fluid and in the breach position. He spent 9 days in the NICU and we came home thinking we had a happy and healthy 4 pound, 9-ounce baby. Continue reading Jake’s story

DJ’s story

djDJ’s story is more than her CMD. Her story began long before we even knew she existed, when our hopes for having a child to love and nurture seemed so far away and unsure. On May 26, 2004, DJ became our daughter through open adoption. We were privileged to have been at the hospital when she was born, and the moment her birth mom placed her in our arms for the first time is one that we’ll never forget – holding this little miracle, our Delayna Joy, and dreaming all the dreams for her future. No one could have predicted that DJ would be faced with the challenges of CMD. Continue reading DJ’s story

Selena’s story

selena1Selena Louise was born on September 19, 2006. Everything seemed fine and she scored well on the APGAR test. Within a couple of weeks we noticed she was not turning her head to the right. We went to see her pediatrician who referred us to an orthopedic doctor. The orthopedic doctor diagnosed Selena with torticollis and we began therapy to relieve the tightness in her neck muscles. Continue reading Selena’s story

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 she had tight heel cords. Continue reading Kennedy’s Story

Ashley’s Story

Ashley was our first wonderful child. My pregnancy was considered “normal” and my husband and I often would imagine what it would be like to play basketball with our child, teach her how to ride a bike, and do all the fun kid activities. At Christmas during my pregnancy, I remember thinking how we would have a little baby crawling around next year at this time. We would have to leave the bottom of the Christmas tree without ornaments, so baby couldn’t tug at them! Continue reading Ashley’s Story

Thomas and Sophy’s story

thomas-picThomas (11yrs) and Sophy (6yrs) both have merosin deficient congenital muscular dystrophy. They are both walking but cannot manage stairs or long distances. Thomas rides an electric scooter at school while Sophy has a manual wheelchair for long distances. Thomas recently had spinal surgery to correct his deteriorating scoliosis. Thomas likes LEGO Bionicles while Sophy loves My Little Pony toys. They live in North Queensland, Australia which is very hot.

Kyra’s Story

Kyra was born on April 18, 2006. She is a very happy child who loves to sing, dance, play outside, swing, go on hikes and play with her cousin. She is very bright and has a great personality.  However, she was diagnosed with Merosin-Negative Congenital Muscular Dystrophy. Continue reading Kyra’s Story

Ethan’s story

ethan2Ethan was born in December 2006 with a yet undiagnosed CMD. After a relatively smooth pregnancy and delivery, Ethan was placed into the NICU for four days after he was born. He was initially diagnosed with hypotonia, myopathy and bilateral cataracts. Continue reading Ethan’s story

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 Continue reading Yuchen’s story (as told by his mother)

Emma’s Story

Early in 2004 we found out we were expecting our fourth child. We already had 2 girls, and a little boy who had been born with lower limb deficiencies. We had a good genetic counsellor, who explained to us that we had a very small chance that our new baby would have the same disability, but just to be sure, offered us an in-depth ultrasound if we waited until 16 weeks gestation. We happily accepted, and during the exam were relieved to count ten fingers and ten toes – so relieved, in fact, that we couldn’t believe when the technician explained that she would have to get the doctor on duty since there seemed to be something wrong with our baby’s feet. Continue reading Emma’s Story

Elisabeth’s story

elisabethElisabeth was born in June of 2001. She was a very healthy, full-term baby and entered this world screaming at the top of her lungs, like most babies do. She seemed like a typical baby those first few months. I began to notice that she was a bit floppy at around the age of 4 months old. Continue reading Elisabeth’s story

Luke’s Story

LukeI was born on August 11, 1995 at 12:04 in the morning. Obviously I don’t remember much of the details, but I do know that I was induced two weeks early because of low amniotic fluid. Eventually at about 6 months of age, my parents started worrying about my health because I was missing milestones. I was having trouble lifting my head and supporting my own weight. Continue reading Luke’s Story

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 shared his story with CMD already, I wanted to take this opportunity to share my experiences of having and living with Bethlem Myopathy. Continue reading Robert’s story

Timmy and Natalie’s Story

smallerTimNatTimmy was born in October 1993 and is now 16 years old. Although he has grown into a “Tim” or perhaps a “Timothy” we continue to call him “Timmy.” Natalie was born in November 1997, and is now 12. Both Timmy and Natalie have been diagnosed with Ullrich/Bethlem Congenital Muscular Dystrophy by Dr. Carsten Bonnemann of Children’s Hospital in Philadelphia. Continue reading Timmy and Natalie’s Story

Pierce’s Story

Pierce1Pierce was born in August 2005 in Sydney, Australia and apart from having displaced hips, Pierce appeared to be a perfectly healthy little boy. For Pierce’s Daddy and I, it was love at first sight. Our red headed little boy was placid and had a wise look about him that was noted by a number of the nurses and visitors alike. Pierce went home in a hip harness and remained in that for four months. Continue reading Pierce’s Story

Maaz’ Story

MaazI would like to share the story of Maaz who is diagnosed with merosin deficient CMD.

Maaz was born in Sep 2001 in Nanjing, a city in China. He is Pakistani and lives with his parents. Continue reading Maaz’ Story

Jennifer’s story

jenniferI was born in 1977 as the second of three daughters to great parents who raised us in New York. From infancy and childhood on, I had many of the classic Ullrich CMD characteristics such as floppiness, dislocated hips, and the somewhat-strange combination of distal joint laxity with proximal contractures. I was a happy baby though and had loving, knowledge-seeking parents who worked hard at trying to find a diagnosis for my symptoms. Continue reading Jennifer’s story

Bethany’s Story

Bethany was born in 2001, a welcome sister for her big brother Ryan. Bethany didn’t take well to feeding, taking far longer than it should. One hand wasn’t in a natural position, and neither were her feet. It was thought that Bethany was a ‘bit floppy’ but this was dismissed by the on-duty Doctor. It didn’t take long to notice that Bethany wasn’t doing the normal things that babies do. Continue reading Bethany’s Story

Owen’s Story

Owen is a very bright, funny, creative and beautiful five year old who happens to have Merosin Negative Congenital Muscular Dystrophy. He uses a mobility device, but really is not limited in any way. He has spirit and loves to talk to everyone that he meets. Continue reading Owen’s Story

Dana’s Story

Dana was born in September of 1998. My pregnancy was normal, with the exception that I was on Progesterone for the first few weeks of pregnancy because of several miscarriages. Delivery was normal and Dana’s weight was 6.3 lbs. Everything seemed fine. As she got a little older, I would look at other infants her age and wonder “Why isn’t she doing that yet”? Continue reading Dana’s Story

Amber’s Story

Amber is a 10-year-old girl who is extremely bright and full of life no matter what challenges she faces. Amber was diagnosed roughly 3 years ago with LMNA-CMD by Dr. Bonnemann at the Children’s Hospital of Philadelphia. Continue reading Amber’s Story

Benjamin’s story

benjamin2Following seven weeks of preterm labor, Benjamin was born at 37 weeks on May 2, 2002. I felt that something was wrong since he never latched on while nursing, did not seem to suck or swallow, and did not seem to have appropriate reflexes. I was reassured that he was just a “sleepy baby,” and had passed all his examinations. One day later, while still in the hospital he suffered a cardiac arrest in my arms. Continue reading Benjamin’s story

Payton’s story

payMy daughter was born in February of 2003, nine years after her older brother. I had been told for years that I would not be able to have more children, but I refused to give up. Three years later, my beautiful daughter was born. She was born 4 weeks early due to my development of gestational hypertension, but she weighed almost 6 pounds and she was a perfectly healthy newborn, and we left the hospital 2 days later. Continue reading Payton’s story

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 que hace que nació. Continue reading Andres’ Story

Keira and Ava’s Story

By Brendan Sullivan

As a military veteran who has traveled the world, I experienced more in a 6 year period than many people will ever get to experience. I’ve been to countries that the majority of people will never be able to travel to. But I’ve also experienced, twice, something which no one ever wants to experience: I’ve buried two children in the past 5 years due to a rare form of Congenital Muscular Dystrophy known as Walker Warburg Syndrome (WWS). Continue reading Keira and Ava’s Story

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 diagnosis. Continue reading Nicolas’ story

Robyn’s story

robyns-walk-a-thon-smilesIf you ask Robyn what her wish would be, if she could just have one, she would still give the same answer she gave 2 years ago when Channel 2 did a vignette on her and our family for the Jerry Lewis Telethon. Her wish is that she and all the kids with muscular dystrophy around the world would be able to walk again. Yet despite the fact that that hasn’t happened yet or may not happen again for her, Robyn still finds such joy in day to day life. Continue reading Robyn’s story

Adelina’s Story

My name is Lucinda. I live with my husband (John), son (also John) aged 6 and daughter (Adelina) aged 22 months. Adelina has CMD merosin positive, and so far that’s all we know. Continue reading Adelina’s Story

Zachary’s Story

I remember the day that the doctor walked into the post-op room we were waiting in. Zachary had just had a biopsy to confirm our worst fears. Zachary had muscular dystrophy. She did not need the biopsy results – she could tell just from looking at it. To say that I felt weak in the knees is probably an understatement. Continue reading Zachary’s Story

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 not need more than braces to correct.  As the months went on, we noticed she was not making milestones as she should for her age.  She couldn’t hold her head up when she should have and was overall floppy.   Continue reading Bean’s story

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。 Continue reading Yuchen’s story: I Wish

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. Continue reading Ana’s story

Jack’s Story

jackpic1Jack was born on November 4, 1998 at 33 weeks. After spending six weeks in the Special Care Nursery, Jack came home on a ½ liter of oxygen. Once home, Jack appeared to be doing well, although he was not an aggressive eater. Approximately three weeks after coming home, Jack had an apneic event and was admitted to St. Louis Children’s Hospital. At that time, it was discovered that Jack had a vascular ring formed by a right aortic arch and an anomalous left subclavian artery. Continue reading Jack’s Story

Sam’s Story

sam1resized3Sam was born on 24th August 2006, a perfect chubby little baby boy. All who set eyes on him fell in love, and none more deeply than his Mum, Dad and big brother Callum (who was just about to turn 4). Sam was named after his Grandpa, who is without doubt his biggest fan and best friend. (Nana is pretty popular too!) Four days after his birth Sam started to run a temperature, and it swiftly became apparent that he had contracted Meningitis. He spent two weeks fighting for his little life in the NeoNatal Intensive Care unit of Belfast Royal Maternity Hospital.

Continue reading Sam’s Story

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. Continue reading John’s Story

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 kleiner Katarakt. Continue reading Lilly’s Story

Matthew’s story

matthew-beachMatthew was born in August 1998 in Italy where we live.

From the first day he had difficulty feeding with either breast milk or formula.  He was hypotonic and floppy but all the doctors said that he was only a bit lazy. Continue reading Matthew’s story

Benjamin and Lucas’ story

benOur son, Ben, was born after several years of infertility and much yearning for a blessed child. He was born following a grueling labor and an eventual emergency c-section with the most beautiful face and abundance of black hair like his Dad. He appeared to be a completely healthy child according to our pediatricians. Continue reading Benjamin and Lucas’ story

Mike’s story

mike1I was born in Georgia in 1965. When I started elementary school, my parents and others noticed that I was walking on my toes and had very limited strength and stamina. My brother who is 2 years younger also showed the same signs. After consulting with my pediatrician, I was sent to see a neurologist. I was misdiagnosed for years with different types of muscular dystrophy. In 2006, I was finally diagnosed with Bethlem myopathy. Continue reading Mike’s story

Liam’s Story

Liam was born in 1998 with what are now known as the classic symptoms of Ullrich Congenital Muscular Dystrophy – kyphosis, hands and feet bending back to arms/legs, contractures in his knees & hips, dislocated hips, a high arched palate and protruding calcaneus. At the time, since his hands & feet were so long & his body measured 23 1/2 “, they started with ruling out Marfan’s Syndrome and an assortment of other lesser known diseases. Continue reading Liam’s Story

Alex’s story

img_0432-2My name is Sarah. My husband Tom and I welcomed Alex in October of 2006, so he’s 2 1/2 now. He also gets tons of love from his older brother Jack who is 9 1/2 and his older sister Katie who is 6. I decided to post here because every time I find any information about dystroglycanopathy, it doesn’t seem to fit Alex. Maybe others are out there who are feeling the same way. If so, I hope this will help. Continue reading Alex’s story

  • 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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