Now we are ten: Williams’s story

This story first appeared in the Information Point newsletter Our World in 2011, the year the Information Point celebrated it’s tenth birthday.  To mark the occasion, we asked some parents with children also celebrating their tenth birthday this year, to reflect on the challenges and achievements of their first ten years. William’s parents Erin and Mark continue the story below.

Our son, William

Our son William was born in 2001 and spent the first few months of his life in the Children’s Hospital Boston NICU overlooking Fenway Park. As fate would have it, he is a Red Sox fan for life! At four weeks old, doctors discovered that he has myotubular myopathy (MTM). At six weeks old, William received his tracheostomy and G-tube.

At four months old, William came home on July 3rd, which we will forever celebrate as ‘William’s Independence Day’! William has thrived at home and faces each day with incredible resilience and his strong will.

Even though William is unable to vocalize, he ‘speaks’ volumes. William uses sign language and assistive technology to communicate. He is also a wheelchair user. His presence and purpose in this world is palpable.

The beginning

At the beginning for us in 2001, we had not heard of MTM before and even some of the doctors knew it only from textbooks, which were not exactly encouraging in their prognosis. Our family had an opportunity to experience ‘being at the right place at the right time’ as we learned that one of the lead researchers in the world researching MTM was right at Children’s Hospital Boston.

Dr. Alan Beggs came to William’s bedside and shared vital information and resources on this rare disease. We will always remember not only the information he relayed to us about the disease but the gracious way he welcomed William into the MTM community and gave us a glimpse of hope through his commitment to this research.

Our foundation

Soon we learned that the Joshua Frase Foundation helped to fund Dr. Beggs’ research and as we were handed the JFF brochure, we were blessed with a beacon of hope, seeing Joshua Frase, the first boy with MTM that we ever saw. Joshua instilled us with an incredible sense of hope for our son’s future, as Alison and Paul Frase paved the way for MTM to find its way onto the research map.

Next, we sought out as much information as we could about MTM as we quickly learned the importance of being the greatest advocate for William. We discovered the Gail Herman research article inspired by John Scoggins, another of our family heroes and Pam and Gary Scoggins’ MTMRG website. We clung to every piece of information these resources provided that supported the thought that our son was a survivor and there were supportive treatments that we could embrace him with to help give him a full life at home.

At the same time William’s journey was beginning, Toni’s development of the Information Point for Centronuclear and Myotubular Myopathy was beginning to bloom. The stories of others that Toni gathered and posted for us provided an incredible sense of inspiration and hope, as her amazing work continues to do so today, 10 years later! These resources were the foundation to our journey that continues to expand and grow.

The amazing journey

An amazing ten years later, William is now in the fourth grade and has been fully integrated in our neighborhood school since preschool, with the necessary health and academic supports. He loves his friends, the Boston Red Sox and he even plays on a Challenger baseball team. William enjoys music and plays an electronic guitar and adaptive bongos. He is also a Cub Scout, likes to bowl and made his first communion two years ago.

William also has two very special dogs, Gracie and Simba, who have themselves participated in MTM research, as they come from a ‘family’ of Labrador Retrievers who carry the same MTM gene.

Even with his medical challenges, William has a very full and happy life. People that have a chance to meet our son share in saying that there is undeniable sense of love, grace and hope that exudes from him. He daily demonstrates his love of life, embraces his uniqueness and inspires all those he meets.

Ten years and Counting

While we celebrate every day with William just as he is, we also hold on to the hope that in his lifetime there will be treatments and eventually a cure for myotubular myopathy. We are very excited about the excellent progress that is being made in the research of MTM and related neuromuscular diseases. We have learned the importance of helping to strengthen our community, coming together to support each other and celebrating our loved ones affected by myopathies.

As a family, we look forward to supporting all of the ongoing efforts our community is making, whether it be connecting with other families through Facebook, helping with planning the MTM-CNM Family Conference, walking for the Beggs Lab, fundraising for the Joshua Frase Foundation, or participating in important research studies. We hold onto the hope that anything is possible and together we can truly make a difference. We feel extremely blessed that our son has brought us to such an amazing community and thank you for the past 10 years and counting!

Now we are ten: Mason’s story

This story first appeared in the Information Point newsletter Our World in 2011, the year the Information Point celebrated it’s tenth birthday.  To mark the occasion, we asked some parents with children also celebrating their tenth birthday this year, to reflect on the challenges and achievements of their first ten years. Mason’s parents Scott and Staceyanne continue the story below.

After years of infertility and numerous losses, I think that we were some of the most prepared parents EVER for not just the having of a baby, but an entire lifetime of family fun. We had our entire life planned out, from baby announcements, to private schools, to family camping adventures, to a surprise 18th birthday trip to Italy. What we were not prepared for was the shock of losing not just all those dreams, but having to face the reality that instead of taking our new bundle of joy home, we were in for the fight of just keeping him alive.

Mason’s life began with an emergency c-section at 32 weeks gestation. Our local hospital was unprepared for such a premature baby but most especially one born with such obvious neuromuscular issues. And even though Mason never kicked, rolled or moved in utero, and that I myself carry a diagnosis of muscular dystrophy, it was still a complete surprise for all when he came out limp and non breathing. He was immediately whisked away and transported to a larger hospital two hours from our home, all before I was ever able to see him. The transport team was very clear with us that there was little chance of him making it to the other hospital, so we should prepare ourselves for the loss. Six long and agonizing hours later, the dreaded phone call came – they did not expect him to last the night but would do their best to keep him alive until I could come say goodbye. They did not know what was wrong, but suspected a combination of Marfan and Prader Willi. This began a seemingly endless round of genetic testing, horrifying diagnosis and the always present specter of death.

Over the next two months, we ran the gamut of diagnostic hell – Marfan, myotonic dystrophy, mitochondrial dystrophy, spinal muscular atrophy (SMA), congenital demyelinating neuropathy, Weaver Syndrome. To us, they seemed to focus on every type of disorder that guaranteed a horrible and painful demise. We eventually made the decision to forgo further testing and instead concentrated on keeping our boy alive. Through Scott’s diligence and a purely chance stumbling onto another boy’s website, we found a disorder that seemed to fit our son. Just after his 4th birthday, Mason was officially diagnosed with X-Linked myotubular myopathy.

From birth onward, he did not tolerate being on his back, otherwise both lungs would immediately collapse. We watched them turn him side to side every 15 minutes, which would cause the downward lung to collapse, while the elevated side would re-expand. We joked that our kid’s best talent was popping a lung up in a matter of minutes from being turned. Humor has carried us through many a challenge! This cycle continued for months, with the time frame being eventually extended to hourly by the time he was a year old. His lungs alternated their collapses until he was three years old, at which time he went onto the vent. Even then, he built partial atelectasis on a daily basis until he was well past his 5th year.

Mason was only intubated the first 24 hours of his life and then it was CPAP and eventually high pressure canula, all without oxygen. At 6 months old, after being transferred to a higher care hospital, a bronchoscopy showed severe laryngeal, tracheal and bronchial malacia. He had had several life threatening episodes and now the risk for complete upper airway collapse was so significant, we made the decision to have him trached. And although we had fought this procedure for so long, it provided instant relief and at eight months old, we were finally able to bring our little guy home! To this day, Mason still has chronically elevated CO2’s, even with his now being fully ventilator dependant, which they attribute to constant partial upper airway collapse.

Before our discharge, we were warned that he would have to be protected, isolated and closely monitored. Basically, we needed to keep him safely within the bubble of our home, cared for and guarded by the team of nurses eagerly waiting to take over our lives. Three days after we arrived home, it snowed in our town for the first time in over ten years, prompting our nurses to panic in shock and anger when Scott carried Mason out to feel the snow fall on his face. That seemed to set the precedent for our life. We may not be able to give Mason the life we had originally planned but we decided then and there, that we were not going to let others place us in a box, or tell us what our life would be.

Our first rebellion against the restrictions the medical community felt the need to impose, was a five day road trip just after Mason’s first birthday, wandering up the Northern California coast, willy nilly driving the back roads and showing Mason the sights. In hind sight, we now cringe in fear at our own stupidity and arrogance, both in venturing so far off the beaten track with a respiratorily challenged child and our complete lack of preparation and common sense. Somewhere about three hours from the closest town, it finally occurred to us that maybe we hadn’t quite thought things through, as Mason was turning blue and we were desperately trying to find the O ring that we had lost from our ONLY tank of oxygen. That not withstanding, it was an amazing trip and the first time we were ever truly alone with Mason. But more importantly, it was the first of many adventures.

We learned very early in Mason’s life that he was severely immuno-compromised. He did not tolerate even the simplest of illness (he was even life flighted for teething because he could not tolerate even the lowest of fever) and it seemed that he was going to catch every single bug there was. After attempting to attend preschool a number of times, all resulting in a life threatening illness and life flight, we were asked to consider keeping him isolated from children year round and the general public October through May. This was a very difficult decision, having to weigh the quality of life to the quantity and at first it truly felt like just one more loss. But we watched our little boy suffer through ambulance rides, horrifying emergency room visits and life threatening helicopter flights, followed by weeks and months of being trapped and poked and prodded in the intensive care unit and it felt like those brief moments of pleasure at school were so not worth the on average of five months per year in hospital. So, we again faced a different future than what we had expected, even on the medical front. But this time, we had learned from all those traumas and close calls and we determined that we were going to have the best time we could possibly give him, compromised immune system or not. This was going to be one long, love filled adventure… and so far, it has been!

If I had to find words to describe our little boy, I would have to say that he is happiness personified; a living, breathing piece of joyful music. From the moment he discovered his voice through an in-line Passe Muir Valve, he has sang his way through every moment, good or bad, of his life. We sit in hospitals with all these other children and I see their parents suffer as they cry in fear or pain and we thank God for our sweet little man. In even the most traumatizing or painful moments, Mason has a smile on his face, a flapping woo hoo in his hands and a song on his voice. He knows every word of every song of every episode of every show he likes and he sings them every day, all while having a figurine from his favorite show clamped in his teeth. His trach cuff is up when he’s asleep but every morning when we go in his room, his lips are moving, his tongue is clicking and when we let the cuff down, he literally continues the song out loud that he was singing in his head! He has the ability to pick up and learn a song within moments of hearing it begin and if one of the many songs in his memory doesn’t fit his mood, he will gladly do a mixed up medley of whatever his favorite parts of various songs are. And when that fails, he just makes up his own music. Due to severe fungal septicemia when he was three years old, he spent three weeks in a coma and by the time he woke up he had sustained brain damage and had lost partial control of his tongue and jaw, so most people cannot understand his words. But there is no mistaking the melodies, the pitches in tone, or the sheer exuberance of our little musical note! And even the most fearful, ignorant and / or hardened of lookey lou’s cannot help but smile when they hear him singing and see him smiling away.

Mason’s joy in life has inspired us to set aside our own reservations and to fully embrace the fun, silliness and innocence of perpetual childhood. The heartbreak upon learning of his brain damage was soon overshadowed by the blessings that came from it. Our little boy will always sing his innocent songs, will always want to snuggle and cuddle, will always welcome hugs and kisses while returning them back with open-mouthed baby kisses of his own, will always take joy in even the simplest of pleasures. He will never know anger, he will never feel regret, he will never learn that by society’s standards, he doesn’t fit in. But most importantly, he will never know fear – and that is a true blessing. And because for us he will always remain ‘little’, we as parents have the pleasure of experiencing the joys and wonders of every day through his eyes. Our family is well known for our Halloween costumes, our doing silly songs and dances in public, our home full of a million toys and continuous musical children’s programs, our huge yearly bash for Mason’s birthday and our willingness to laugh at ourselves (and others!). Everything makes Mason happy and being around that contagious smile, that piping little boy voice, we can’t help but be light of heart and spirit, too.

Maybe because all our doctors are four hours from our town, but Mason learned to love travel from the very beginning. He loves to go, be it somewhere familiar or somewhere new, he loves to be on the road – as long as his music or TV are playing, that is! He loves amusement parks, especially the parts where everyone is screaming! He loves the coast, with the Redwood trails and the shark petting exhibits. He loves San Francisco, with the traffic and the tall buildings, the street performers and the generally loud noise. Because he has to be isolated from the majority of children and people, we have taken our adventures to the great outdoors. We have hauled this kid’s wheelchair up and down terrifying dirt trails, just to give him a three minute ride on a Sky Tram over the Redwoods. We have parked his chair so his feet hung over a tank, so that the sand sharks could come up and bump his toes. We have gotten stuck in muddy fields on more than one occasion, just so he could feed the fish from the shore. We have even broken through a few federal fences and gates to take him out on restricted jetty’s, because that would help him feel like he was out in the actual ocean. And two summers ago, we hauled him and his eleven carry-ons onto an airplane and flew him to Texas to meet other boys like himself. And being with those boys opened the door for another world and even more adventures.

Mason never showed a desire or aptitude for being in a powerchair, so we had pretty much given up on that particular dream long ago. Maybe if he had been able to attend actual school and could have seen other children driving around, he would have been interested – we’ll never know. But once he did see kids zooming around, that was it for him. One month later and we had a loaner chair and were trying to get him to drive. Now, we are the first to admit that Mason is pretty much allowed anything he wants, which has created a somewhat tendency towards stubbornness. Three months of our working to get him to drive and we were literally having to tie his hand to the control, otherwise he would fling it over the side of the chair – he much preferred to have us walking beside him, driving the chair where he wanted to go. We had just made the decision that after the Holidays, we were going to return the loaner and give up on this idea. But in Mason’s typical fashion, he decided out of the blue to shock us into the next stage of our life.

While at a Christmas tree lot, I turned my back for only a minute and he was gone. My first thought was that I had left him with Scott at the back of the lot but then I remembered I hadn’t. Then I just stood there in shock, because after months of his refusing to even touch the control, I knew HE hadn’t voluntarily gone anywhere. At the same time, abduction has NEVER been a worry – no one is ever going to steal a kid on a vent, much less in a wheelchair that they couldn’t even get into their own car! Ten minutes of me and the staff frantically screaming his name and running through the trees and we finally headed up to the front to call for more help. And there he was, the front wheel of the chair hooked on a bale of hay by a fire pit. And upon hearing my frantic call to him, my precious angel took one look at me and gunned that chair in the opposite direction at full speed. He crossed the tree lot, turned out a gate, drove across a busy street and then navigated the parking lot to park himself at the back of our van – all with me trying to catch up and screaming for him to stop! For the first time in his life, I truly didn’t know whether to hug or smack him, and I can honestly say that if he hadn’t been sitting there proudly woo hooing those hands and humming the ‘I’m so Happy’ song, he might just have gotten the smack! To this day, when Mason feels he’s had enough of whatever we’re doing, or he doesn’t think it concerns him, he makes a break for it, and drives himself back to our van – his subtle way of letting us know he’s ready to go! And if at any time we come across someone in a powerchair, or one of those scooters provided by a store, Mason feels the need to zoom over and carefully bump them, as if inviting them to play. And when they drive away, he follows them about like a puppy, determined to interact with one of his ‘kind’. 🙂

Going into a powerchair has made a tremendous impact on Mason. He receives all his services in-home. School, occupational therapy, physiotherapy, speech – everyone comes to us, in order to help minimize the risk of cross-contamination. But even with these measures, Mason’s immune system has continued to break down and he averages IV antibiotics every 3 – 4 months. This has taken a large toll on his body and we have seen a marked decrease in his ability to be on the go. So, once again, we are entering a new phase of this journey.

Up until this last year, Mason’s life consisted of our traveling as a family, or his being in our living room watching his shows. He has shown no desire or aptitude for games, computer or otherwise, so his TV is all he’s had. But since he started driving his powerchair, he has made several leaps developmentally, and six months ago, we discovered a new world – the world of iPad! We still have our outdoor adventures, they’re just closer to home and for shorter durations, to accommodate Mason’s increased weakness and limitations. But as this new stage progresses, Mason’s world is expanding and unfolding, all within the walls of our home and the vast worldwide App Store!

Our life with Mason has been a wondrous, terrifying, joyful adventure and he has brought such amazing love and fulfillment to our family. We look back at all those plans we had, all those momentous occasions we thought would mark our life as complete and we have to laugh. The experiences of this little boy, the blessing of witnessing his courage, his strength, his determination – all other things in this world pale in comparison to what we have gained from this one miraculous child. At times of trial or challenge, people ponder the places they’ve been, the place they are, what the future will hold, and they question the loss of ideal, the loss of dream, the loss of faith. We say to one and all, what has been lost when you live a life full of love and song…

Now we are ten: Javad’s story

This story first appeared in the Information Point newsletter Our World in 2011, the year the Information Point celebrated it’s tenth birthday.  To mark the occasion, we asked some parents with children also celebrating their tenth birthday the same year, to reflect on the challenges and achievements of their first ten years. Javad’s mum Shannon continues the story below. 

When Javad was born, November 1, 2001, he was small, weak, and barely breathing. He was a much-anticipated child, the sibling that would unite our blended family. Weighing 6 lb 7 oz, he seemed like he should be healthy, but we quickly realized he was not.

Within 18 hours, he was transferred to a local children’s hospital where he could receive care in the Neonatal Intensive Care Unit. He remained in the NICU for three weeks, undiagnosed, until his release the day before Thanksgiving. Looking back, I believe that they sent him home to die, although they never said those words to us.

 

The next two years are a blur. We spent more time in the hospital than out. He received a diagnosis of myasthenia gravis at 5 months, a shot in the dark. At almost two, we saw a doctor who challenged this diagnosis, so a muscle biopsy followed, then we received the diagnosis of myotubular myopathy, which according to all we read, seemed to potentially be fatal. We were crushed but vowed to give Javad the best life possible. At three and a half another major setback with a near fatal respiratory event which resulted in a tracheotomy.

Fast forward six years and you will find Javad a healthy, happy boy attending school and making friends. It is hard to believe those years so long ago when he was so tiny and frail, especially looking at him in his strength.

He warms your heart with his smile and continues to amaze us with his determination and strength. We look forward to many, healthy, happy years ahead, which is why we don’t think of Javad as nine years old, but rather nine years strong!

Now we are ten: Anthony’s story

This story first appeared in the Information Point newsletter Our World in 2011, the year the Information Point celebrated it’s tenth birthday.  To mark the occasion, we asked some parents with children also celebrating their tenth birthday the same year, to reflect on the challenges and achievements of their first ten years. Anthony’s parents Tina and Doug continues the story below. 

Anthony lives in Monroe, CT and will be turning ten in May – he was born on May 10, 2001. Anthony has X-linked MTM, the severest form of myotubular myopathy. Doctors at birth gave him hours to live and said he would never see his 1st birthday. Little did they know that he would be turning ten but his positive attitude and his energetic drive to succeed is amazing. He is such an inspiration to all that meet him.

Anthony is in 4th grade in the public school and truly strives each day to do the best he can. He works so hard to read, write and now speak. His voice has gotten clearer and his attitude is so cool. He is definitely a typical ten year old. He can not swallow so he is fed via G-tube, his muscles are very weak so he requires a vent 24/7 but nothing gets him down.

He goes into a stander twice a day to help strengthen his bones because he has scoliosis and weight bearing is supposed to help. He has a tricycle that he rides and a power wheelchair that he should be given tickets for because he drives way too fast.

He has three brothers that love him so much. They all know how to suction him, how to change his trach and they each lay with him at night until he falls asleep. They are angels to him. We love watching them wake up to greet him with a hug and kiss hello or goodnight. It is awesome to watch.

Anthony has many friends (all girls of course) that come over each day and then they all sleep over every Friday and Saturday night. They have been doing this for months and the compassion they show to one another, one could only wish adults would be that way.

He gets up at 6.30 a.m., goes to school, therapy and then comes home to play dates each day, then goes to bed by 9 p.m. Where he gets his energy is beyond me. He always has a smile on his face and regardless of all of the obstacles he faces each and every day, he is so happy.

Anthony was just recently admitted to the hospital for viral pneumonia. He needed 4 liters of oxygen and we had to change his vent settings to give him a little more pressure because his heart was shifting. We brought him in on Friday and by Saturday night, he was so ready to come home. He was down to 2 liters of oxygen and so full of life! He is such a fighter and has more determination than anyone we have ever met. He came home on Sunday and went back to school on Thursday. He has special angels working overtime to help him heel! The power of prayer is incredible and we truly believe that he has many angels along with God to give him his strength! The doctor’s couldn’t believe how fast he recovered.

The last time Anthony was admitted was in 2004, so we thank God for being able to care for him at home as well as we do. When we feel it is necessary for him to be seen, or now that he knows his body so well, he will tell us and we will bring him in. We live life for today and never look for tomorrow. We just enjoy every moment we have with Anthony and our other three boys.

We try to let Anthony do as much as he possibly can. We don’t limit him to anything! He has gone on roller coasters, the Big Yellow Slide at the Big E, where there were lots of stairs to carry him up , he swims in our pool, went down a slip and slide (wouldn’t recommend that one though …), even rode on the handle bar of a ten speed bike! Anthony never misses out on anything, as long as we can make it happen, we do our best to make sure he never feels different! Anthony is not just alive; he is living life to the fullest. The happiness that Anthony has brought to our family is more than words could ever say. He has truly shown us what life is really about and we thank God everyday for blessing us with such an angel!

Now we are ten: Adam’s story

This story first appeared in the Information Point newsletter Our World in 2011, the year the Information Point celebrated it’s tenth birthday.  To mark the occasion, we asked some parents with children also celebrating their tenth birthday this year, to reflect on the challenges and achievements of their first ten years. Adam’s parents Sarah and Pat continues the story below.

Earlier this year our son Adam celebrated his 10th birthday. Like every other family affected by centronuclear myopathy, we always wonder what the future will hold. So we rejoice in the completion of Adam’s first decade of life!

Adam is diagnosed with autosomal recessive centronuclear myopathy (CNM). He had a normal birth and was a healthy infant but we soon noticed that he was not meeting his motor milestones like a typical child, for example lifting his head and rolling over.

By 6 months old, several doctors and therapists evaluated him and it was suspected that he had some type of myopathy (muscle disorder). At 13 months old he had a muscle biopsy that confirmed the diagnosis of myotubular myopathy (MTM). We even had the muscle slides sent to another hospital for a second expert opinion, which agreed.

Next, Adam had the genetic test for MTM1 at the University of Chicago. Although most boys with MTM test positive for this mutation, Adam did not. Thus, it is assumed that he has the autosomal recessive form, rather than the X-linked form. It was because of his biopsy results, his negative MTM1 test and his milder severity of deficits that the doctors gave him the diagnosis of autosomal recessive CNM. Over the course of the next decade Adam was tested for every known gene associated with CNM that became clinically available (DNM2, RYR1, BIN1) but they all turned up negative.

Adam started walking (very wobbly!) at 15 months of age. He never crawled because he did not have the head / upper body strength to do so. It was clear that there was nothing wrong with his mind – as he was always learning new words at a very precocious rate.

Adam attends regular, mainstream school with a 1:1 nurse on hand. He is in fourth grade and is a straight-A student. Adam is a great little guy, taking his medical challenges in stride. He loves playing and designing video games and playing with his buddies friends.

Around 4 years old, Adam developed scoliosis (sideways curving of the spine), which continues to worsen. He wears a Providence scoliosis brace at night. At age 6, he started on a ventilator (breathing machine) at night to treat hypoventilation (not breathing well enough) which occurs when he sleeps. When he has a respiratory infection (e.g. a head cold or bronchitis), he uses a Cough Assist machine to suck out secretions from his lungs, to prevent pneumonia. He has never been intubated nor had a tracheostomy. He uses the Cough Assist twice a day for lung / chest wall health and development and range of motion. At age 8 Adam got a feeding tube. This helped tremendously with is growth, nutrition and management during illnesses.

As his parents, Pat and I are so proud of him and how much progress he has made. We have committed ourselves to the goal of finding breakthroughs and treatments for Adam and others with myotubular / centronuclear myopathy.

One of the things that have helped us the most on this journey has been connecting with other families with this disease. We have been touched, moved and inspired by the outpouring of support that we have received from family, friends and others in our community and around the globe. Working together with families and researchers from worldwide, we know that we all can make a difference. We are grateful for the role that the Information Point has played in this.

Happy 10th Birthday, Adam and the Information Point!

Adam