Life with CNM/MTM

Family stories with myotubular myopathy and neuromuscular disease


Peter's Story


"Our beloved Peter passed away on July, 27, 2018, as the result of a liver hemorrhage. He was a sweet, happy boy most of his short life, and always came through with a beautiful smile even when in great pain. He was the rock of our family and a real fighter, who meant so much to so many people around the world. With assistance, Peter was able to stand in the ocean, board a train, ride a horse and for many years, ride a bike. His last few years were very hard, especially with the multiple liver episodes, but his signature smile never left his face. He now joins his fellow angels, who are free from their earthly constraints. We thank all of you who stood with us throughout good times and bad, and will continue in the quest to find a cure for all our kids."        Dr. Ramzi Khuri


The Essence of Life 

Just a glimpse into the lives of some of our precious families 


Patient Day 2017 




Music with Mare

We couldn't help but share this video of Mare, in Florence, Italy, being serenated by his father and uncle. I am inspired by how our families embrace life and this video is a sweet reminder of finding joy in everyday moments.  

Massimo's Story

...I saw my purple baby for about 15 seconds before the alarms rang and about ten nurses and doctors were in the room, they were breathing for him and (I found this out last week) when they left the room they were doing chest compressions on the way to the nursery.
He was intubated while the ambulance was on the way and my baby and husband were off to a bigger hospital. I was a few hours behind...


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Francesco's Journey: A story in a name

We are Italian and we have lived in Rome since our birth, we have always been living our life like many other people … family, job, friends … and waiting for a baby.

We have been waiting for a baby for many years … then … when we discovered that a baby was growing up in my wife … with a great surprise we saw the calendar … and it was the October 4th … the celebration day of Saint Francesco … the most important Saint in Italy. We had not doubts … our son would be Francesco !!!

The nine months after passed without problems … a beautiful period … waiting for Francesco … imaging his little face … having many dreams with him … then … when the evening of the June 5th 2012 we went in the hospital for the birth … we couldn’t imagine that we would return at home after one year !!!!

Francesco wasn’t able to breathe at the birth … he was practically dead. His Apgar index was 0 !!! But he showed immediately his strength because after one minute, even with the help of pediatricians his heart started to beat !!! Francesco was with us …


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Raxton's Story

In one year all of our lives have changed in so many ways. It's been a year full of ups and downs but more importantly, it's been a year of making nonstop memories. On July 3rd 2014, I woke up and went to work just like any other day. I knew that I had a scheduled weekly check up with my doctor to check on Raxton. When I got there, things were just as normal as any other appointment. I felt great even though my feet were swollen like balloons. As I sat in the chair listening to my sweet babies heart beat and listening for any movements or kicks that I might be able to hear, I noticed that his heart rate dropped for a little bit longer than I had ever heard or seen before. Shortly after, the doctor sent me to the hospital to be monitored a few hours longer to make sure everything was ok. As I laid in the hospital bed, talking to my best friend, they came in and told me that as soon as my husband could get there, they were going to take me back for an emergency c-section. I freaked out but I was also over the top excited that this was the day we would finally meet our sweet baby Raxton. When Raxton was born I remember anxiously waiting to hear his sweet cry, but it never came.

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Patrick's Story

How does one write about life with MTM1 in just a page? So hard, but here goes nothing. Come one come all to the greatest show on earth, “Raddatz brothers and Barnum baily circus” Where death defying acts will thrill you…Strength and courage with warm you…And clowns will make you smile.

In 1991 my happy little goofball was born “Cliffy”. In 1995 God decided to add to the “Patrick” to the circus. I can’t write a sad depressing story because I never felt that way. I’m going to skip to the present and work back to the past. Patrick is a blue mohawked, bearded, tattooed, pierced, gaged ear 20 year old...

 To read more, click here.


Emiliano's Story


Kyle's Story

Our son Kyle was born on a beautiful October day in 1996. All our hopes and dreams for a healthy baby boy were shattered for a second time in the delivery room, where he showed obvious signs of respiratory distress and muscle weakness. The NICU became our new home away from home for the next 2 1/2 months as we watched, waited, and prayed for our second baby boy to gain strength enough to come home. We had lost one newborn boy before, I didn't want it to happen another time, it seemed too much to bear. more


Sam's Story

‘What did your son have?’ she asks me as she picks her daughter’s jacket up off its tiny hook. She stops and looks to my eyes as I answer. ‘A genetic neuromuscular disease,’ I say, “its very rare, I’m sure you’ve never heard of it. Only about ten kids are born with it each year’. I bend down to grab my son’s backpack, while my seven month old happily busies herself with my hair. “Oh” she says as her gaze shifts downward to a child size bench across the room. Is she wondering what it would be like to have her child die? Is she looking at me, with mother’s eyes, and feeling sorry? I stand in front of her and wait…hoping she’ll continue and ask me more about my son Sam. more


John's Story


After 13 miscarriages, our son, John, was born in April 1989 with Myotubular Myopathy. John coded at birth and was on a ventilator for several weeks. He had a fundoplication and trach at 7 weeks and at 11 weeks we brought him home from Texas Children’s Hospital in Houston. We were told that he would probably only live a couple of weeks and never see his first birthday. Not exactly the entrance to parenthood that we’d dreamed of, to say the least. more


Peter's Story

"...Our first possible hint of trouble came when, four months before he was born, he was found to have clubbed feet. However, as this does run in part of my family line, and is easily repairable, we weren’t overly concerned. One week after the due date, Peter still did not start moving out in the birth canal, even in response to induction. His obstetrician then decided to do an emergency C-section on December 19, 2003. Much to our surprise and dismay, he came out extremely floppy and in respiratory distress. He needed oxygen via a nasal canula. Peter was transferred (accompanied by me) overnight out of NYU to the Mount Sinai Neonatal Intensive Care Unit, the reason given to me by one of the doctors at the NYU NICU being that there were “too many babies in distress, and that was unfair to the NYU staff”.  Donna was meanwhile left to recover at NYU while worrying about what would happen to Peter. I promised her I would take care of him. It was very hard on the three of us, but I shuttled between the two hospitals, catching occasional naps during the cab rides..." more