Written by: Ashley Walker

Like many couples, my husband Johnny and I felt that the birth of our twin sons would mark the beginning of our family’s story. We certainly didn’t expect the deafening silence that followed their births. We knew that we should have heard them crying despite being born prematurely. Instead of being the happiest day of our lives, our sons’ birthday is now remembered as the first day of our family’s fight against an invisible enemy: X-linked myotubular myopathy (XLMTM).

My husband was a staff sergeant in the United States Marine Corps and as a military family, we know that the first step to winning a battle is knowing the enemy. We had no idea that XLMTM had declared war against me when I was born 32 years ago.

According to my parents, I was a “good” baby. I was quiet and seemed content to sit and watch my older sisters play without wanting to join them. By the time I was in kindergarten, it was clear that something was wrong with my health. When it was time to sit on the classroom floor for story time, I always sat near a chair so I could hold on to it and pull myself up when it was time to return to my desk. When we were outside at recess, I stayed near my teacher so she could help me up when I fell. After years of blood tests and muscle biopsies, doctors concluded, mistakenly, that I likely had limb-girdle muscular dystrophy. I was told to stay active and was expected to have a relatively “normal” life.

When our sons Alexander and Jayden were born, we were told there was a small chance that they might inherit limb-girdle muscular dystrophy but that we shouldn’t worry about it. However, doctors decided to run a full set of genetic tests after both boys required tracheostomy tubes to help them breathe and gastrostomy tubes to provide nutritional assistance shortly after birth. Testing showed that Alex, Jayden and I had XLMTM.

My husband’s Google search following our conversation with the boys’ doctors would confirm our worst fears. We learned that XLMTM is a rare genetic neuromuscular disorder that causes muscle weakness that can present as difficulty walking and cause challenges with swallowing and breathing which can lead to severe respiratory distress. The disease predominantly affects males but female carriers like me can also develop symptoms that range in severity from mild to debilitating and life-threatening. The condition’s symptoms can be managed with ventilation support, feeding tubes, and physical and occupational therapy, but there are currently no treatments available.

Alex and Jayden’s doctors explained that their condition was fragile—they were very susceptible to infections and an illness as simple as a cold could threaten their lives. When the boys were 14 months old, they each caught colds that turned into pneumonia. They passed away within hours of each other on July 11, 2013.

Through our immense grief we realized that we now needed to focus on my personal well-being as I began to understand that I was living with XLMTM. My condition has progressed and I now have difficulty getting out of bed, walking to the kitchen, keeping my head up and using the entire left side of my body. I am not able to work or even be left alone in the house for long periods of time in case I fall and can’t pick myself back up. I require breathing assistance at night and have had to modify my diet because swallowing has become more difficult over time. I live in fear of catching a cold and developing life-threatening pneumonia. I feel like a prisoner in my own body.

Despite the grim prognosis that is currently associated with an XLMTM diagnosis, I haven’t given up my fight. I am committed to eating healthy and exercising as much as possible so that my body stays strong.  I swim in our pool and use a seated elliptical regularly. My family is extremely supportive and helpful when I need them, but I try to remain independent when I can.

Although my voice is soft because of the effects of XLMTM, I am committed to having my story heard. I have many hopes for the future of the XLMTM community. As a woman living with the disease, I envision a future where those with XLMTM are diagnosed sooner, and that it is better understood that women can experience debilitating symptoms as well. As a parent, I hope to see the day when no mother loses their child to this insidious disease. As a patient, I dream that one day a treatment will allow me to take walks with my husband and our dog, go grocery shopping, and visit the beach with my family.

About the Author: Ashley Walker is a patient and caregiver advocate for those living with centronuclear myopathies. She has lived with X-linked myotubular myopathy (XLMTM) since birth. After her twin sons Alexander and Jayden both passed away due to complications from the disease, she began sharing her family’s story in an effort to raise awareness of the urgent need for life-saving treatment options. She lives with her husband of 10 years in Carlsbad, California.