Age 4 | Exmouth, Devon, UK
Living with XLMTM
“I look at him as he’s William in a broken body and all we gotta do is fix that body. Being a good father in this situation means giving him my hundred percent.” - Kieron
At first glance, milestones are hard to imagine within the mise en scène of William’s bedroom. It’s filled with ventilators, a suction machine, a Pulse-Ox, tracheostomy tube, feeding and breathing tubes, an automatic wheelchair, and other emergency equipment—all necessary to his daily survival. But the tangle of wires and tubes are not alone. William’s shelves are packed with Toy Story characters, monsters of all shapes and sizes and his favorite fire truck, whose blinking lights and sirens form a chorus with the frequent alarms of medical devices.
As for many boys with x-linked Myotubular Myopathy (XLMTM), the gift of life comes with an intense regimen of around-the-clock care. But for William, only four years old, milestones are just as real as the tangled wires that make up his bedroom.
“We aim for one big thing a year,” says Adele, his mother. For his first birthday, his milestone was to be able to hold his head up and to turn it to see what he wanted. “The next year we wanted him standing free and sitting up. We achieved that,” proclaims Adele. The prevalence of optimism in William’s family is undoubtedly helping his ability to progress towards living a semblance of a normal life. Now, they are dedicated to getting him to his next milestone: to walk on his own.
“We’d move his legs for him,” reports Adele. “He knew which leg to move.” The family would spend hours a day working with William to teach his ailing muscles the strength they hoped would have been ingrained with since birth. So far, they haven’t had much luck with walking. “He’s just had so many problems with his tendons in his lower leg, that he hasn’t had any time—and now he isn’t even using the walker.” These setbacks are a regular occurrence, but the family isn’t letting this stop them from trying in the hopes of reaching the next big step. “Those moments that he’s able to do those things, are amazing, so it’s all worth it.”
[The family recognizes that..] struggles like these are also blessings, recognizing that many boys born with disease don’t live past their first birthday. William, in several ways, is an exceptional case, both in that he is surviving, and that (unlike the vast majority of MTM patients), his parents were not carriers of the disease. Rather, the genetic mutation of the XLMTM1 gene happened within him.
This realization was both gratifying and difficult for his mother, Adele. She was both relieved that she isn’t responsible for William’s condition and that her and her daughter aren’t genetically inclined to pass the mutated XLMTM1 gene on to future children, but left some serious questions. “At least if I was a carrier, then there was a reason,” says Adele. “But if I wasn’t a carrier, then, why did this happen? There’s no reasoning you know... and I find that really difficult.”
Whether they carry the mutated genes or not in no way diminishes the daily burden that his family faces in getting him the proper care. Adele can no longer work, instead using her time to take care of William along with several in-home nurses, who work through the night to ensure that William is safe and happy. “Our whole life, I’d say 98% of each one of our lives revolve around that boy,” says Adele in regards to her family. Her husband, Kieron, meanwhile works for the military and is often in a pickle between doing work away from the families home in Devon, UK, on a military base, and being around to help out. Even Rhianon, their fifteen-year-old daughter steps in to help with care.
“I’ll just be there, like straight-away,” says Rhianon with utter certainty in her voice. “Sometimes the nurses miss some of the things that I pick up.” She explains how she can understand her brother better than most of the nurses, often playing a crucial role in conveying what William is trying to communicate. Her overall capacity as a teenager to help with William’s care is astounding. “She’s already thinking,” says her mother. “The more and more she’s thinking like us…. She wants to learn how to do physio. I let her do a trachy-suction once, a few months ago.”
The family holds a mutual desire to learn and cope together through years of diligence. “It’s routine for us,” says Kieron. “[Four years] is a long time dealing with machines, dealing with care… We battled.” He is busy providing both financial and emotional support for Adele. “I’m someone she can vent to… It can get to you--that constant beeping, that constant noise.” “He sorts me out,” says Adele. “I need that sometimes.” [clarify their conversation, who is saying what, when?]
With so much going on at home, the family desires one thing, to get out in the world, which is not surprisingly a serious challenge. “We don’t get out so much,” admits Rhianon. “But we do go to the zoo and stuff like that.” William has found great enjoyment in going outdoors, and just loves being in nature. He even gets to ride on Kieron’s bike trailer and goes kayaking with Rhianon.
From early on, it was this attachment to the world around him, his unfailing desire to interact with it—even when his cells told him he couldn’t—that saved his life. None, of the accomplishments and steps that William has made would’ve been possible without his undying desire to communicate.
Upon diagnosis, at the age of five-months, William’s family had to make the toughest of all decisions. The doctor stated that William would need constant aide for the rest of his life, and might never have any ambulatory abilities and furthermore probably wouldn’t survive his first year. “She said the majority would just let them go peacefully,” says Adele. The choice, that all families with MTM children must make, was whether to have William undergo a tracheotomy, and have a tracheostomy inserted, or “to let him go.” There was a week to make the decision.
“We didn’t know what to do. Do we tell our families? Do we keep it to ourselves?” says Adele. “I kinda wish the first thing we would’ve done would’ve been to contact the Myotubular Trust.” The Myotubular Trust is a UK-based and patient-based organization involved in providing help in extending and improving the lives of children with MTM, and helping involve patients in the search for a treatment and a cure. Now the family is involved in the Trust as well as the broader international MTM community.
Yet, without this support the family had to make the decision on their own. For this, William had to advocate for himself. His parents observed him moving his arms across the bed, and playing with a string of fiber-optic lights. “We were just amazed by this little slight movement,” recalls Adele. He had that big mask on his face and he was smiling.” Right then and there the decision was made to extend his life and get the tracheostomy. “There is something more. He has got more to live. That made up our minds.”
William’s ability to communicate has since increased exponentially. He’s able to speak, is learning how to count (he can currently count to thirty) and is starting school—all possible because of the care he’s received.
The belief that William would survive was never far from his family’s minds, but they have needed to reach out to broader community for much-needed support. “How much longer can I keep on going like this?” says Adele. “Up at three-o'clock in the morning, the same routine, physio and everything… It’s just so draining sometimes.”
William’s family hopes that gene therapies, currently under development, could bring some relief and healing to their predicament. “We need that gene therapy...before I crack up.” Adele first heard about this development at a MTM conference, which has brought a renewed sense of hope to the family.
Now, the family is determined to try and get William into the clinical trials, all-the-while continuing their growth and learning as a family. “It has opened up my eyes to a whole new world,” says Adele. William too, continues his struggle to be heard from within the world of machines that have taken up far too much of his play space, no doubt, hoping instead for more room for his Mickey Mouse and Toy Story toys.