Changing the Lives of Patients with

Myotubular and Centronuclear Myopathies (CNM)

Meet Ashley

When California resident Ashley was an infant, people told her mom that she was a “good” baby. Looking back, her family now realizes this “good” behavior was one of the first clues that something was not right with their daughter’s health. As a young child, Ashely was lethargic and quiet, and she lacked the energy and strength to keep up with her two older sisters. In kindergarten, she sat near teachers so she could have assistance getting up from the floor. She was bullied for being different and teased for being lazy. Her pediatrician told her parents that there was nothing wrong, and all physical exams came back as normal.

While still in elementary school, Ashley continued to lag behind other children her age and was unable to perform everyday activities such as running upstairs. She was admitted into the hospital to undergo tests and was diagnosed with limb girdle muscular dystrophy (LGMD) – a progressive and likely inherited form of muscle weakness. Her parents were advised to keep her moving and active but that not much else could be done.

What doctors did not know is that Ashley actually had a disease called X-linked myotubular myopathy (XLMTM), a rare genetic neuromuscular disorder characterized by muscle weakness that can range from not too severe to very profound, debilitating and life shortening. Symptoms are often present at birth, though may develop later in infancy or early childhood. Because of weakness in muscles that are involved in swallowing and breathing, patients often have severe respiratory distress and require a ventilator for breathing. XLMTM can bring potentially life-threatening complications during infancy and early childhood. The disorder predominantly affects males due to its “male-pattern” form of genetic inheritance. However, female carriers of the affected gene, while previously assumed all to be asymptomatic, can develop a range of symptoms like Ashley. A rare disorder affecting about 1 in 50,000 male births in the U.S., a confirmed diagnosis was still years away for Ashley.

Through high school, Ashley fought hard to remain active and optimistic. Her father built a pool in her backyard to enable her to exercise. She underwent surgery in both feet to correct abnormally high arches – a symptom of XLMTM – but it was unsuccessful and has left her in chronic pain. Doctors told her family that she would continue to decline and would likely be in a wheelchair by the age of 30.

“Not only is it physically so hard, but my life is mentally exhausting. I am always thinking, are there stairs I’ll need to climb, who can help me to the bathroom, who will help me if I fall?” – Ashley, On day to day living

At the age of 20, Ashley fell in love and married Johnny, a United States Marine. With a desire to start a family right away, the young couple met with a geneticist. Still with an inaccurate diagnosis of LGMD, the couple was encouraged to start a family and told their risk of complications was low. Ashley became pregnant right away, and ultimately miscarried. The couple conceived again – this time with twins. Ashley had a routine pregnancy up until 27 weeks, when she went into premature labor. Her boys, Alexander and Jayden, were born on May 11, 2012.

After the delivery, the boys were immediately taken to the neonatal intensive care unit and required oxygen. Doctors told Ashley and Johnny that there was no need to worry, both boys would get stronger with time. However, the boys did not improve and eight months into their stay in the hospital, they each received a tracheostomy tube to assist with breathing.

With Alexander and Jayden continuing to decline, a physician recommended additional genetic testing for Ashley. In Ashley’s words, “the worst happened” for her and her boys. Ashley finally received her diagnosis of XLMTM. Having never heard of this disease before, Johnny did an immediate search online for information, and shared the prognosis with Ashley. While the information available for this rare disease was limited, she and Johnny now had answers to Ashley’s poor health and understood more clearly what Alexander and Jayden were facing. In addition to the respiratory and other developmental challenges, both boys were more at risk and susceptible to infection and overall survival rates were terribly low. When the boys turned 14 months old, they were ultimately too weak to overcome a cold that turned into the flu and pneumonia. Alexander and Jayden passed away together on July 11, 2013.

Life continues to be very challenging for Ashley. At age 32, she remains unable to work and requires breathing assistance at night. Her family is afraid to leave her alone, as she has fallen before and has been unable to get up unassisted. Ashely lives with fear – fear of a common cold ending up in another stay in the ICU, fear of continuing to decline, and fear of what’s to come. Ashley feels like she missed out on her education, on being a productive member of society and on being a supportive wife all because of her physical limitations.

But Ashley has made healthy lifestyle choices and remains as active as she is able. She is a devoted and beloved wife, daughter, sister and aunt. She is grateful for the ongoing support of her husband and her extended family who see her resilience and perseverance. Her hope is to have the strength to someday enjoy everyday activities like going for a walk with her husband or doing routine errands independently. While her voice is soft because of the effects of XLMTM, Ashley is a powerful communicator who wants to share her story to raise awareness of and to help others facing similar journeys.

“It has taken me a long time to understand that I am not a burden. This disease is the burden, and I am NOT X-linked MTM.”
On caregivers:
“I have been blessed in many ways; most important I was born into the right family. I don’t know what I would do without them, they do everything for me, and I am so very grateful. My hope is that someday I can do for them as well.”