I am honored to be a part of this project and group. I am the mother of two boys that were born with x-linked myotubular myopathy. My first child Miles Daniel was born full term and needed to be resuscitated at birth. He was placed in the NICU and passed away five hours later. He was a beautiful baby, and as I held him, I mourned all of the things he would never get to do. He was not diagnosed at the time because in 1988, there were no tests or information on this rare disease. The diagnosis at the time from the doctors was “…it was a fluke, these things happen.”
I soon got pregnant again and after an amniocentesis, I found out we were having another boy. “Lightening doesn’t strike twice,” I was told during the course of the pregnancy. However, my intuition told me different. When it was time for me to give birth, I insisted on having a neonatologist in the delivery room, oxygen on hand, and a c-section. Zachary Allen was born and was quickly attended to.
After weeks and weeks of testing and three months in the NICU, Zachary was diagnosed with myotubular myopathy. In reviewing the medical records from Miles’ birth, it was concluded that he too was diagnosed with this disease. Zachary lived a full and beautiful life surrounded with family, friends, and love. He died just before his 7th birthday. There is no one else in my large family that has ever had any problem with this disease.
I adopted two beautiful children and we started a little garden in the back of our house near the window where Zachary looked out of every day. My husband started growing sunflowers because he called them “happy flowers.” We have been growing the sunflowers for almost 10 years. We support Toni and her tireless efforts in bringing awareness to the rare neuromuscular conditions of centronuclear and myotubular myopathy, as well as spreading hope and sunshine all over the world.