Changing the Lives of Patients with

Myotubular and Centronuclear Myopathies (CNM)

Meet Zak

Meet Zak: smart, joyful, and spirited, he wants people to see the person behind his genetic condition. For him, a disability should never be a reason to see someone as different.

“I focus on life, not on my condition.”

Zak is 25 years old and living with myotubular myopathy (MTM), a rare genetic neuromuscular disorder characterized by muscle weakness that can range from mild to very profound and debilitating. MTM causes weakness in muscles that are involved in swallowing and breathing, and patients often have severe respiratory distress and require ventilation. Despite the challenges it brings, Zak is determined not to let his condition destroy his quality of life. He loves being with friends and looks forward to spending more time socializing with them, going out to restaurants and having a beer. Some may consider him as a true modern hero for doing what he likes despite the limitations of MTM, but he swears he is just a regular person, even joking that he ‘just wants to be boring, an average guy.’

Unfortunately, Zak’s advanced stage of disease often prevents him from doing these basic things with fatigue and chest infections being barriers, not to mention the physical barriers of actually getting into somewhere easily. There are currently no approved therapies to treat Zak’s condition, but Zak is hopeful there will someday provide therapeutic options available that could help. Zak is convinced that even minor improvements in muscle power, would have a positive effect on his quality of life.

What would Zak’s world look like if he had any improvement in his muscle?
“Despite my best efforts, I physically find it hard to smile,” Zak explained. “It would be fantastic to show my emotion and I would probably look better in photos too! It could mean the difference between having to use a headrest on a wheelchair or not being able to roll over in bed without needing help from care givers. It could be the difference between having to find quiet locations to have conversations with friends or happily shouting across a table in a noisy pub!
It might mean not having to make sure a restaurant’s tables are exactly the right height to lean comfortably on while eating and being able to order the steak off the menu rather than the softest option. Or for some people, it could even mean the ability to chew and swallow at all. At best, it might allow some people to stand or walk again.”

But Zak still feels that ‘anything is everything’ – meaning any improvement no matter how relatively small it may seem to people unaffected by neuromuscular disorders, can and will greatly boost quality of life, both physically and mentally.