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.
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.
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!