X-Linked Myotubular Myopathy (XLMTM)2019-04-18T13:56:03-07:00
Read Their Stories

XLMTM

Communication Corner

About XLMTM

X-Linked Myotubular Myopathy is a rare, severe, debilitating condition that affects skeletal muscles, leading to severe muscle weakness (hypotonia) and profound respiratory distress, often requiring invasive ventilatory support. It affects an estimated one in 50,000 newborn males worldwide, and is caused by mutations in the MTM1 gene. These mutations lead to lack or dysfunction of the myotubularin protein, which, when functioning normally, is required for normal development, maturation and maintenance of muscle cells.

For more information about X-Linked Myotubular Myopathy disease, please visit the links below.

NIH Genetic and Rare Diseases Information Center – Information about XLMTM

NIH Your Guide to Understanding Genetic Conditions – Information about XLMTM

XLMTM Program Timing

For more information about Audentes XLMTM clinical trials, see the links below.

Program Discovery/Proof-of-concept Preclinical Research IND submission Clinical Trials Submission to Regulatory Agencies Regulatory Marketing Approval for Use in Patients
Investigational Gene Therapy for XLMTM (AT132)

Community Support & Resources

Where can you find support from the XLMTM community?

Below are organizations dedicated to helping the XLMTM patient community around the world. Each of them offers something unique.

Germany

Zusammen Stark!

Learn More

Poland

Oswoic Miopatie

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The United Kingdom

Myotubular Trust

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The Information Point

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United States

MTM-CNM Family Connection

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The Joshua Frase Foundation

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Where There’s a Will There’s a Cure

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Patient Stories

Learn about patients and families affected by XLMTM.

Emi
Age 7 | Illinois, USA

Within days of Emi’s birth, his parents, Sergio and Paty were forced to make tough realizations. He was born premature, at less than 30 weeks, and had ended up in the NICU, under constant supervision by a team of nurses and doctors. They were using the term “floppy” to describe the newborn, which was frightening and disconcerting.

“He was like a rag doll,” says Sergio. “You could hold him, and he had no muscle tone whatsoever.” The days in the NICU dragged on, and the stress was building. Myriads of possible conditions were being tossed around at the two unsuspecting parents. “You want to get out of there,” recalls Sergio. “But then we started thinking, okay we need those answers.” Eventually, it seemed that a muscle biopsy would be necessary to determine what was going on with Emi and what his chances were of survival.

The biopsy came back with conclusive results: Emi had been born with X-linked Myotubular Myopathy, or XLMTM, a severe neuromuscular condition that meant Emi might never leave the NICU. “I stopped breathing,” says Paty. “I don’t know how long. It seemed like forever… I felt like how did this happen to my son?” The feelings of shock and grief were soon complicated when Paty found out that she was not a carrier of the gene that caused the XLMTM. Emi’s genetics had underwent a mutation in utero.

Weathered and determined, Paty and Sergio decided that they were going to do everything they could to help their newborn son survive, and provide a good life for him. One of the toughest decisions was whether to give Emi a tracheostomy, a procedure that was being recommended by the doctors to help stabilize him, yet presented itself as invasive and all-too permanent. The family had been living in and out of the NICU for six months now, and Emi’s condition was not improving. He often would wake up in the morning energetic and full of life, but by the time the afternoon came around, he would need intensive medical assistance. He was being intubated and extubated constantly.

“I think it was at that point that we called [our doctor] and told him that we were ready to have him trached,” remembers Sergio. They held their breath again, but the next day, upon visiting Emi post-op, his parents were surprised to find him as vivacious as ever. “He was just full of energy,” says Sergio. “Swollen and what not, but happy.” With the tracheostomy completed, the family looked forward to the next milestone: taking Emi home. Perhaps he was ready for this transition, but Sergio and Paty had much to learn. A team of nurses scrupulously trained the couple on the various machines and processes that now defined their caretaking strategy as parents. And they weren’t being let off easily.

The couple struggled to learn all of the necessary methods, but slowly built the reserves that still bind them together today. “These situations can either bring you close or separate you,” reflects Sergio. He remembers telling Paty, “It is an ugly thing, this disease, but we cannot hate it so much, we have to work with it.”

Finally, eight months after his birth, Emi settled into life at his family’s Chicago home. Despite the relief of finally bringing their baby home, his parents found themselves consumed by the constant medical assistance Emi required, along with the task of trying to explain to the extended family what was going on at home. “I’m not exaggerating,” says Paty. “It was such an extreme…Someone sitting next to him every minute, every minute and a half. He wasn’t keeping food down. He would vomit a lot.” The couple seeked helped through nurses, who continue to give the family much needed support on a daily basis. “We are so thankful to them,” says Paty. “I mean, we wouldn’t be able to sleep, work, or shower even.”

Yet, even in this challenging milieu, the couple began to find meaning, love, and resolve which continues to this day. “Aside of all of the complexity that comes along with Emi, he has brought us joy,” says Paty. “He has really opened our eyes to life, not that we were living life so quickly, but he has really shown us how precious it is.”

With every unrestricted breath Emi takes, he has given Sergio and Paty more strength than they could’ve ever imagined, and he too is building a personality as a reflection of the love he has received. “He loves life, because he is so happy,” says Sergio. “He is a morning person too. He wakes up very happy. He has his routine down pat—he knows, he loves his environment, he loves coming back home too, he loves his bedroom—he has a lot of likes.”

“I think also he loves his space. He loves quiet,” says Paty. Emi can get overwhelmed easily by the presence of well-meaning family members like his nephew and niece. Visitors are stressful for his parents too, as they bring outside germs into the house. “Kids just aren’t really clean,” says Paty. “You can’t expect them to be tidy. You just hope for the best.” Overall, she sees Emi interacting with other kids as paramount to his development, despite the fears of a parent whose child has a severely compromised immune system.

Sergio places a huge importance on taking Emi outside despite the risks, which sometimes include difficult or negative experiences. “We try and give those experiences even though he cannot get them right. If there are local carnivals, we take him to the carnival. He loves lights—he loves going to the planetarium; the museums—I think he enjoys it.” If things don’t work out and Emi succumbs to one of the many debilitating symptoms of XLMTM, his parents are well-equipped to handle the situation.

“That is why they are here, that is why there are in this world, to teach us, because we are focused on so many other things,” says Paty. Being a parent of a child with a rare genetic illness has come to define her and her husband’s place in the world. “There is definitely a lot of joy on top of all of the complexity and fear and the sadness that we hide.” As Emi grows, more questions and challenges are sure to arise for this new family, but they intend to take a deep breath, and hit them at full stride.

Will
Age 3* | Illinois, USA

Hours after the birth of his son, Daniel was in an elevator with the treating NICU (Neonatal Intensive Care Unit) doctor when the doctor said, “‘You might want to give him a name…’ It wasn’t the words but the urgency in his voice that was troubling. It was then that I realized we weren’t just dealing with undeveloped lungs … we were moving into the rare.”

William was born one month early on July 18, 2011. The birth was an emergency cesarean section and marked the first of 52 consecutive days that he stayed in the NICU under strict observation and testing. The process of figuring out a diagnosis was long, isolating and emotionally difficult for Daniel and Melanie. One day when they were finally alone in the room, Daniel grabbed his son’s chart, reading it aloud while Melanie began typing the unfamiliar terms into her phone.

That was the beginning of a six-month diagnostic odyssey that led the family into uncharted waters. “We knew it could be a very long road to diagnosis” and Daniel admits that the limited knowledge they had “was horrible but comforting.” Despite feeling stranded and lost, Daniel and Melanie worked as a team to educate themselves about every rare disease William potentially had, employing a process of elimination.

“You’re breaking down inside,” says Daniel. “Then somebody says they may have an answer … Whether that answer is good or bad, it is at least information that takes you out of the dark.”

Following an instinct that William’s condition may be related to the unresolved passing of two boys born to Melanie’s grandmother, Melanie began advocating for specific tests. “You could tell by the look on the doctor’s face, she had put it together—the light bulb went off. Even before the muscle biopsy, we pretty much had confirmed X-Linked Myotubular Myopathy.”

As soon as the diagnosis was confirmed, Daniel and Melanie joined online communities comprised of other MTM families to whom they asked medical questions. “We knew we could trust other parents,” Melaine explained. The family was immediately befriended within the MTM community, feeling acknowledged despite their vulnerability. “You see another parent post a picture of their child at a baseball game and it’s really powerful. It gave us a lot of confidence—that we were going to be okay.”

In managing the daily needs of their two children, Daniel and Melanie strive to achieve a sense of normalcy. Yet they equate the added element of William’s MTM with living under a cloud, “and you never know when it’s going to rain.” Sometimes there are scares that William is having a mucus plug or another medical situation is unfolding. Though usually, “it is everything other than a medical condition”—just William being a three-year-old, and a very special one at that.

*Will was 3 years old when these photos were taken in 2014.

Milosz
Age 10 | United Kingdom

Born into a spider web of unknown difficulties, Milosz entered the world in December 2008 with a genuine curiosity for life and a unique way of living it. After surviving a complicated birth and three weeks in the neonatal intensive-care unit, Milosz was taken home by his parents, Michael and Monika, with no conclusive diagnosis of what was causing his alarmingly low muscle tone. Though Michael and Monika were certain something was not right, it took years for the new family to have an accurate diagnosis.

Living amidst such unknowns taught Michael and Monika exceptional lessons. “No matter what, we lived with it. There is no other option besides acceptance,” says Michael. The couple also became well learned about different forms of muscular dystrophy and rare conditions, “We were educating the doctors!” says Monika.

Uncertain of where to turn, Monika took Milosz to live with her family in Poland where they had better access to physiotherapy. After months of intensive therapy, Milosz’s connective muscle tissue began to show signs of minor improvement, so the family reunited in the UK. Just before his third birthday however, Milosz was hospitalized and treated for pseudomonas. He suffered a lung collapse and received a muscle biopsy that confirmed his condition, X-Linked Myotubular Myopathy (MTM). Because the couple was not informed about the possible spectrum of severity affecting boys with MTM, they expected the worst. “It was a hammer.” recalls Michael.

They decided then to take life as it is and to live one day at a time, always appreciating the good things. They welcomed their healthy daughter, Lena, into the family agreeing that whatever came their way they would cope with together. “It’s astonishing the level of happiness you can feel amidst so much that is unknown,” says Monika.

Contrary to the speculations made by medical professionals that Milosz would need extreme medical support, he is surprisingly healthy and independent. He walks on his own and can breathe without ventilatory support. With that independence comes the development of a unique and clever little boy, whose brightness and intelligence is apparent to all that he meets.

Milosz’s parents offer tale after tale of a steadily blossoming life—stories spanning from typical childlike joys such as an interest in music and cars to his creative aversion to chores.

“When Milosz was three, he was being a bit lazy, not wanting to take his toys off the shelf that was behind me, so he asked if I could hand them to him instead of him going over to get them himself. I agreed and offered him his desired toys. Milosz’s mother and I expect him of course to clean up after himself but this case was unique in his mind. When it was time to go, I asked him to put back on the shelf what he had been playing with. He cleverly reminded me that it was not him who took the toys off the shelf!” Michael says.

On another instance, Monika shares, Milosz was hungry and hoping to get fed. “I told him that God gave him two hands to feed himself. He responded by saying ‘God gave YOU two hands to feed me with!’”

After the scare of being told he might not live long and having seen first-hand how a statement like this is merely a potential outcome, Monika and Michael are quick to advise other families living with MTM not to believe cold “facts.” “There is a wide spectrum of possibilities to consider,” says Michael. “What the doctors suggest is merely one possible outcome of many. We were told that Milosz would have a much more difficult time than he actually has had. A wonderful human being is now with us, developing in us passions we didn’t even know we had.

He’s our little hero.”

“Because of Milosz and his interests, we too are getting out more, traveling when we can just to explore. We go to classical car shows and listen to more music. Not only is Milosz growing, but he is helping us grow too.

Zak
Age 18* | United Kingdom

The brits love football, and 18-year-old Zak is no different. But like many fans, he plays from the comfort of his living room—controller in hand—a look of intense concentration across his brow. There he often spends hours perfecting his timing, challenging himself to develop new strategies with his favorite players. A game with Zak usually ends up one way—with him as the victor. “He takes it very seriously,” says Simon, Zak’s father. “I think he let me beat him once.”

For Zak and many young adults faced with physically-limiting illnesses, gaming provides a unique outlet for social interaction and growth. Not to mention it’s incredibly fun. However, Zak’s interest goes beyond fun; it is a path of study and potentially a career. Zak is enrolled at

Plymouth University where he is taking his passion for gaming to the next level. “I [am] studying software development,” he says boldly. He wants to use those new skills to pursue a bachelor’s degree in game development. He admits that creating video games is difficult. There is an immense amount of competition with other developers. But if anyone can achieve this feat, it’s Zak, who is no stranger to battling the odds.

Zak represents a tiny percentage (less than 1%) of boys affected by x-linked Myotubular Myopothy (XLMTM) who make it to adulthood. Now he faces new challenges, choosing a career and transitioning into a more independent lifestyle. “I am not dramatic,” Zak explains. “In terms of what I do at Uni, or later on in my life.” He seeks self-sufficiency. With an experience-backed smile, he shares his life’s motto: “Be grateful for what you have.”

Being grateful is a lesson that Zak and his family have been learning and experiencing together for years. And the fact that they have had so much time is yet another thing to be grateful for. Recalling the early days, before many resources existed for XLMTM, Simon and Wendy were extremely grateful for anything (or anyone) they could find. “The reference points were few and far between,” admits Simon. In many ways, the family became pioneers in the management of Zak’s disease. Now, more and more families with growing boys look to them as a model for what to expect in teenage years and the transition into young adulthood.

“When you have a child with serious disabilities, you don’t look years ahead,” says Wendy. “You take it day by day.” However, Zak is getting better and better at taking care of himself, especially around respiratory complications, which is crucial to his ability to live on his own. “More than ever before, we’ve been able to plan ahead. We’ve taught him how to manage his chest. He can pinpoint on his chest where the mucus is. He knows his chest better than we do.”

Wendy and Simon have reinforced the belief that Zak can and will be as independent as possible. “You need positive things around you when you’re dealing with a rare disease,” says Wendy. “We want him to just be a normal young man. Find himself, find life, find fun, be able to choose.

In 2006, Wendy, along with Anne Lennox, another mother in the XLMTM community, started the Myotubular Trust, a UK-based charity that helps support families affected by the condition. The trust has created numerous resources in the UK for families with XLMTM, and also helped Zak network extensively with other affected boys. Wendy has since stepped back from daily operations of the trust, but remains committed and involved.

Despite the tinge of normalcy in the air at the family’s home—the smell of fresh bread in the kitchen, sounds of Zak antagonizing his younger sister, Sophie, and photos on the bookshelves displaying some of the family’s favorite hobbies: kayaking, mackerel fishing and surfing—things have been anything but easy in recent years. As a young teenager Zak experienced some difficult growing pains. He lost the ability to walk at around age fourteen and began using the power wheelchair that he still uses today. At the age of sixteen, Zak underwent back surgery to correct an extreme case of scoliosis that developed as he grew. It had gotten so bad that he was having trouble breathing at night, even with the help of his BiPap machine. The surgery went well, but things got complicated post-op as the hospital staff weren’t able to extubate him and get him breathing normally.

“That was the first time we had ever thought about the possibility of a tracheostomy,” says Wendy. “But once you get a trach, it’s hard to go back.” The family made the difficult decision to not trach Zak, but instead to transport him to another hospital where he could receive specialized care. Their decision paid off, and after ten days in the ICU, Zak was able to return home, fragile, but determined to recover fully.

After the surgery Zak realized that he needed to take on more responsibility for his own well being. “There is quite a lot of exercise,” explains Zak, who goes to hydrotherapy multiple times a week and sees a muscular-development therapist, focused on building strength using bands. The more exercise he is able to do, the better. Occasionally, on weekends, Zak feels well enough to play wheelchair football or tennis with Powerback, a group which organizes fun activities for wheelchair users. “But he’s still in recovery,” admits Simon. “When you go through something as major as that, life becomes more about the little things. For him to be able to eat—something as simple as that—is a massive pleasure,” says Wendy.

Just like Zak’s muscles, the rest of his family work together to maintain their resilience. “It either binds you together or blows you apart,” says Simon, reflecting their situation. “You kind of have to put your own emotions and feelings aside,” says Wendy.

As anyone who has had the pleasure of meeting Zak can attest, his inner strength and level head is perhaps as rare as his condition. He is seemingly incapable of a bad attitude, let alone surrender. Despite occasional setbacks, Zak is undeniably filled with life. He is a thoughtful, kind, compassionate and extremely funny young man, always striving. To date, he has experienced more in his twenty years than many do in a lifetime. His ability to face life’s challenges without losing his center is a unique skill that few succeed at with as much grace as Zak.

*Zak was 18 years old when these photos were taken in 2014.

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