Now we are fifteen

This story originally appeared in our newsletter Our World in 2016 when the Information Point celebrated its fifteenth birthday.  Back in 2011, when the Information Point turned ten, Our World had shared stories about some of our community who were turning ten the same year – five years on we asked some of them to share their stories again.

Adam

Happy 15th Birthday to the Information Point!

Five years ago, our family submitted a story celebrating our son’s 10-year birthday and the 10th anniversary of the Information Point. This year, we are submitting an update five years later. A lot has happened in the last five years.

The biggest news to take place in the last five years is that we finally have genetic confirmation. You can read how our genetic mystery was solved below. We now know that Adam’s muscle weakness is caused by changes in the Titin (TTN) gene. Changes in the Titin protein may cause muscle weakness as well as heart problems.

So what is Titin? Titin is a very large protein. It’s huge! In fact, Titin is the largest protein in the human body. The Titin protein is located in each of the individual muscle cells in our bodies. It is also found in the heart, which is a very specialized muscle. Muscles need Titin in order to work and move. You can learn more about Titin on the Titin Myopathy website.

Adam

Having this genetic dignosis was an important milestone for our family. It led to further testing of extended family members and increased surveillance of heart function for all of us. It also has given us a specific focus for research and pursing a treatment and has allowed us to connect with other families with this specific genetic cause of their weakness or heart condition.

In our previous story, we mentioned about Adam’s curvature of the spine (scoliosis). Well, that continued to progress and required a surgical correction in 2013. We did a lot of advanced planning and Adam had a successful spinal fusion. Although the surgery and recovery were difficult, Adam has been thriving ever since and is now scoliosis-free, as you can see from the photos below.

Adam scoliosis

With improved health, our family has gone on to focus on exciting things like learning to drive and preparing for college. Our local school has been tremendously supportive with creating a plan to determine if and how Adam can become a safe driver. This may include a special evaluation at a local driver’s rehabilitation program but will be determined after his 16th birthday.

We have started our college search. We decided to start earlier in our search than most high school students since we need extra planning and extra time for planning things like on campus tours. We are considering things like what government support services is Adam eligible for; how far from home does he feel comfortable; does Adam want to live on or off campus; what kind of modifications does he need for taking college entrance examinations and what kind of supports or modifications does Adam need on a daily basis.

We decided to focus on colleges in our state (to maintain state-based services) and within a two hour driving radius of our home. We then made a spreadsheet of all the schools that meet that criteria and will start exploring them over the next year or two.

We found that visiting the schools in person was critical. The physical environment of the different campuses ranged a lot in accessibility and ease of getting around. So far, we have been to three different campuses and with each tour we seem to refine the things that are important to consider. We also found the book, ‘College Success for Students With Physical Disabilities’ by Chris Wise Tiedemann full of useful information.

The last five years have been filled with a genetic answer, a successful spine surgery and a new focus for the path ahead to adulthood. We really appreciate that we have the companionship of the Information Point and other myopathy families along the way.

Now we are ten: Adam’s story

Genetic mystery solved | Titin gene mutations cause CNM

Javad

It’s hard to believe that five years has passed since our last story. So much has happened. Javad just turned 15 on November 1st and sometimes I laugh that he is 15 in all that implies. He is sassy but sweet. He is tolerant and patient. He loves fully and each day I am lucky to call him my son.

Javad was doing incredibly well until eighteen months ago. On March 16, 2014, he had a sudden and devastating seizure that forever changed our trajectory. Javad’s seizure, which seems to be unrelated to myotubular myopathy, caused cardiac arrest. He spent a month in the hospital, essentially in a coma, then was brought home to recover with no real hope for the future. He spent most of the next five months sleeping and slowly finding a schedule as well as coming out of the drug induced fog.

During this time, we have fully embraced the spirit animal of the giraffe, strong with wide vision. The giraffe has carried us far and brought us a sense of peace. This has been difficult, yet Javad is never angry or frustrated. Each day is approached with a positive attitude and generous spirit.

It has been a year since his ‘awakening’ and we’re on the road to healing. Javad has lost most of the movement in his arms and we are slowly rehabilitating, hoping to get as much movement back as possible. Every day I am grateful for this sweet boy. I look at him and am in awe of his attitude and warrior spirit all wrapped up in a giraffe blanket.

Now we are ten: Javad’s story

Mason

It seems like such a blink in time since the first family story we wrote, with so many fun adventures in between. The past years have been filled with so many changes, some good, some difficult but mostly wonderful. Just a few highlights include driving lessons and powerchairs, video games, personal visits with many other CNM/MTM families, ongoing travels that include mountains, oceans, deserts, airplanes, trains, camping and our amazing Make A Wish trip to star in our own episode of Yo Gabba Gabba.

We have gained two new family members, our service beagles, Finn and Micah … following Mason, they officially rule our world and bring even more fun and adventure. And one of our biggest changes, is that somehow, our ‘baby’ has turned into a young man, a teenager that is the same size as his mommy.

But I would say our greatest adventure so far has been our recent move. It was a huge change but we had the opportunity for Scott to get his social work license, so we sold our home, along with pretty much everything else we owned, we left all our friends, our security and we moved to the mountain town that we both grew up in, way up in the backwoods of Northern California, close to the Oregon border and almost to the Pacific coast and California Redwoods. It was a pretty big risk for us, because there are no services for the medically fragile here, including no providers/doctors/teachers/therapists that will accept Mason – its been almost two years with absolutely no nursing. Oddly, our life is much calmer, more peaceful and so much more relaxed. It’s amazing how not having a million appointments each week and no nursing influencing our lives makes for a much happier home. We have grown closer as a family and Mason is more than excited to have his parents at his beck and call 24/7.

In the past year, we have had some medical changes that have brought other challenges that we are learning to adapt to. I think that ‘adapt’ is the motto of CNM/MTM … along with hope, strength, determination, perseverance and a touch of insanity. Mason no longer tolerates sitting at any angle, so our wheelchair days have come to an end. But we decided that this didn’t mean the end to our adventures, we just need to go about them in a different way. We have always been truly inspired by the ingenuity of all the other families, so we have taken a page from the Cummins family and are working towards getting a gurney. We are extremely blessed that the front passenger seat of our rear entry wheelchair van comes out and has tie downs underneath to accommodate, so if we can get our hands on the gurney, we’re back on the road again. In the meantime, we set Mason’s bed up in our living room and it’s a family party round the clock, with our days spent as mommy and boy curled up together and our evenings with the five of us – mom, dad, boy and two dogs.

Being away from all things familiar (our friends, our support system, our services), has been an adjustment but one so worth the effort, with rewards and benefits we never thought possible. One of the biggest saving graces for us, for myself specifically since becoming housebound, has been this community, this worldwide family. It’s such a blessing to know that at any given time, there is someone somewhere in the world that I can turn to who knows exactly what our life entails. Having this family to share our joys and hardships with is amazing. Just how truly wonderful this community actually is, was shown with our biggest highlight of this past year.

Because of Mason’s even more fragile immune system, as well as our not being able to make many real connections since moving here, we struggled with what to do to replace our usual birthday party blowout. But then it occurred to us, that we have so many friends and family from around the world, that we would welcome everyone to our home for a virtual party … and it turned out AMAZING!!! We never expected such an incredible response but we received posts and videos from families all over the world, from almost every continent and so many countries: Canada, North America, South America, Ireland, Wales, Britain, Italy, France, Norway, Sweden, Germany, Austria, Turkey, Spain, Portugal, Russia, Poland, Ukraine, India, Africa, Jamaica, Japan, Australia and New Zealand. We were humbled and overwhelmed by the amazing outpouring of love from so many – we spent the day re-watching the videos over and over again with Mason, me crying and him being so excited by the singing and everyone saying his name. This … this was truly one of the most precious experiences that we have had in our journey with our perfect miracle boy and we are just so very thankful for the joy, the friendship, the strength, the support and the love that this CNM/MTM family brings into our life.

Now we are ten: Mason’s story | Mason’s Worldwide Virtual Birthday party

Will

Wow 15! We celebrate every day in our house and it’s amazing to us to think that we have been blessed with fifteen years with Will. Will bravely lives with the challenges and the joys, that have become a part of his life living with myotubular myopathy. He is now a sophomore in High School and enjoys school, as much as any teenager who may prefer to hang out in their room listening to their favorite music or watching their favorite TV shows and movies. He has many passions including his love of Boston sports teams, especially the Red Sox. This September he was even fortunate to have a front row seat at Fenway Park to witness Big Papi’s final home run. If you aren’t sure who Big Papi is, he’s the most beloved Red Sox player who just retired, so this was a pretty big deal and we were so happy Will got to experience that amazing moment in person. Will’s joy and ability to live out his motto that ‘Life is Good!’, is something that leaves a lasting impression on us daily and those that get a chance to spend time with and get to know our courageous son.

Will

We also celebrate that even with all of Will’s medical challenges and despite all the nay-sayers that said early on and along the way that he would spend so much of his life in the hospital, Will has successfully lived fifteen years of his life in our home, in our community and was free of any unplanned hospitalizations. This ‘personal record’ was interrupted this spring after the development of a new pulmonary finding for Will, one that has been identified in a few other boys with MTM, that required two brief inpatient stays. Thankfully for now, those issues have resolved and he is back to his personal baseline. That was good practice, a reminder of how to do the whole inpatient scene when we need to, but now we hope to be back on track with maximizing care at home though knowing that amazing care is available in Boston if needed.

That is something to celebrate at 15 for sure! We share this especially for those that are early in their journey to share that our children and adult family members with MTM or other CNM diagnosis can have a great quality of life. That our loved ones are not defined by their disease, physical limitations, or medical equipment that they rely on. That they can experience so much, they can do so much and they can love so much. It has been our privilege and honor to experience this journey with Will for the past fifteen years.

While this is the time in our community to be hopeful for possible future treatments and even potentially a cure, we continue to live and celebrate each moment right where we are. This is one of the greatest gifts that Will and his journey with MTM has brought us. We have also been blessed to share this journey with such a wonderful community. We have been grateful to be of service to our community through our efforts to put on the US Family Conferences, and the creation of MTM-CNM Family Connection to help sustain the mission to connect MTM-CNM families to research, resources, and life-enhancing relationships.

We also have so much gratitude to you Toni and your incredible dedication to our community through the Information Point. Thank you for your continued work over the past fifteen years, gathering and sharing the stories of our global community to share hope, information, awareness and beautiful sunflowers through your Big Sunflower Project. Happy 15th Birthday Information Point.

Now we are ten: William’s story

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