A call for help – Centronuclear myopathy

I got an email today from a friend. She said there was a family in Wellington who needed help. Their infant daughter, who is 11 weeks, has just been diagnosed with Centro-Nuclear Myopathy. 

They have been in the NICU for 11 weeks and while they have a dianogis, there are still so many unanswered questions and unknowns about their daughter’s future. 

The dad has been searching all over the net to find out anything he can about this muscular disease and has discovered there are just eight recorded cases in the world. 

From my research I found that:

“Centronuclear myopathy (CNM) is an umbrella term for a group of rare genetic muscle disorders. These disorders are characterized by muscle weakness that can range from mild to profound. Symptoms are often present at birth in the severe forms, but may first develop at any point during life, although onset in adulthood is unusual…. CNMs derive their name from the abnormal location of the nucleus in the center of the muscle fiber (muscle cell) rather than the normal position on the edge. Centronuclear myopathies can be further classified into the larger, broader category of congenital myopathy, a group of genetic muscle disorders that are present at birth.

Common symptoms include mild to profound muscle weakness and diminished muscle tone (hypotonia or “floppiness”). In more severe cases, feeding difficulties and potentially severe breathing complications (respiratory distress) may occur. Feeding difficulties and respiratory distress develop because of weakness of the muscles that are involved in swallowing and breathing. Involvement of the muscles controlling eye movements is common in all different forms. The overall severity of the disorder can range from mildly affected individuals to individuals who develop severe, life-threatening complications during infancy and early childhood.”
From http://rarediseases.org/rare-diseases/centronuclear-myopathy/

I can imagine this family’s distress. Their sadness, their confusion. I immediately pictured them in the Wellington NICU struggling to come to terms with these medical terms and different ideas for how their daughter’s life may turn out. I saw myself in that NICU crying and confused, and I wanted to do something.  

The friend who emailed me wondered if I could help. Did know anything about this condition? 

Well, no, I don’t. Until Eva was born I had never heard of CHARGE Syndrome. I certainly hadn’t heard of this. But then I thought, maybe someone who reads this blog could offer some information. This family is searching for support, information, advice. If you have anything you think might help, please comment on here and I will email you. 

There is very little I can do, especially being in Portland right now, but if I can put out feelers and tap into the knowledge of you all, maybe I can be more help to this family that needs it and has asked for it. 

Please get in touch. I didn’t have the savvy to reach out like this family has at this point in the journey, I want to make sure they know their calls are being listened to and we are trying. 

  
 

7 thoughts on “A call for help – Centronuclear myopathy

  1. Seth Harkins

    Judy Johanson Froh Harkins
    Im so sorry to hear abt your child. My husband, Seth, has studied Charge Syndom extensively and is CEO of the Philip J Rock Center & School in Illinois. He has written an article on Charge and is happy to send u a copy. Please email him with ur contact info. His card is attached. I wish u and ur child the best.

    1. Oneinamillion Post author

      Thank you so much, but it wasn’t CHARGE Syndrome I needed information about. It’s for another family with a daughter with a different condition. But thank you so much for reaching out!

  2. Seth Harkins

    Judy Johanson Froh Harkins
    Im so sorry to hear abt your child. My husband, Seth, has studied Charge Syndom extensively and is CEO of the Philip J Rock Center & School in Illinois. He has written an article on Charge and is happy to send u a copy. Please email him with ur contact info. His card is attached. I wish u and ur child the best.

    1. Oneinamillion Post author

      Thank you so much, but it wasn’t CHARGE Syndrome I needed information about. It’s for another family with a daughter with a different condition. But thank you so much for reaching out!

  3. Maggie

    I don’t know anything about the condition, but hypotonia is familiar territory in the Down syndrome community. All of our kiddos are somehow affected by it. Prayers for this family…

  4. Maggie

    I don’t know anything about the condition, but hypotonia is familiar territory in the Down syndrome community. All of our kiddos are somehow affected by it. Prayers for this family…

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