Life with CNM/MTM

Letter to new parents from Alison Frase about living with CNM/MTM

Dear Friend,

As I sit at my desk writing this letter to you, my son has been gone for several years. He was almost sixteen when he passed, which means that I’ve been entrenched in the world of Myotubular Myopathy for over two decades now. The words that you’re just beginning to hear, the medical terms that are being thrown at you left and right, lab results that you need help from Google to translate… I speak that language fluently. My life is so entwined with Myotubular Myopathy now that I scarcely remember life before it. But, I do remember, vividly, the place where you are today.

I know what it’s like to one day live a perfectly normal life and the very next day, in the moment that I became a mother, having my world crash down around me. I remember screaming in panic, as only a mother can, when doctors told me that my son wasn’t going to live through the day. The first time I saw my son he was in an incubator and I was only able to touch him through two small holes.

If I could say anything to you right now, it’s that “I know.” I know the pain, the confusion; living with a tunnel vision while the world continues to move on as if you’re life didn’t just come screeching to a halt. I know how hard it is to wrap your mind around all the information that doctors are telling you as if you went to medical school right alongside them and should just ‘know this stuff’. I know the emotional exhaustion of having a child in the NICU, and the stress that it puts on every aspect of your life. I know the confusion of not having a diagnosis, as test result after test result rule out one disease after another.

I know the wish of every parent who has a sick child – the desire to take the sickness on yourself, so that your child doesn’t have to suffer – and the excruciating reality that it will never come true. Your child will have to live life with MTM/CNM, and you will have to stand by their side through it all. I know what it’s like to will your child to live through the night, to make it just one more time.

But, I also know the joy that comes from loving a child with MTM/CNM. I know that while this disorder can affect their lungs, their muscles, their ability to eat normally, breathe normally, walk and talk normally…. It does not affect their heart. And, let me tell you, these kids have the biggest hearts in the world! It also does not affect their ability to think and to dream. My Joshy, he was a dreamer. He dreamed of becoming a scientist and one day finding a cure for his friends, and I'm not just biased when I say he was brilliant enough to make that dream a reality. His life enriched our lives in so many ways. Being Joshua’s mom changed me into the woman I am today.

I know where you are today, but I also know that it gets better. I know that there is hope. I know that if you choose life the road will be hard, but it will be worth it. I also know that you might be faced with the decision to remove your child from life support, and that road is hard too. I know the grief, the guilt, the self-doubt that comes with that decision, and I want you to know… we’re here. Whatever your journey with MTM/CNM looks like – no matter how long or how short – we’re here. We love you, we support you, we’re behind you 100%.

I'll leave you with my favorite quote - a quote that has truly resonated with me through the years. This perfectly captures our precious children...

"The most visible creators I know of are those artists whose medium is life itself. The ones who express the inexpressible - without brush, hammer, clay or guitar. They neither paint nor sculpt. Their medium is simply being. Whatever their presence touches has increased life. They see and don't have to draw. They are the artists of being alive..."
-Donna J. Stone


Please download the "Family Guide for myotubular myopathy

All the best to you and your family,