Our family's journey with Myotonic Dystrophy began 25 years before Zayden's birth, though we had no idea such a disorder even existed. When Zayden was born and ultimately diagnosed, it finally brought answers to many long-standing questions that had lingered for years.
Let me take you back to how it all started.
In November 1999, a beautiful red-haired baby girl named Blaize entered the world. She was born just shy of 40 weeks, weighing 5 lbs 7 oz and measuring 18.5 inches long. From her first breaths, she faced challenges, requiring CPR before she could breathe on her own. Unfortunately, her struggles didn’t end there. Within a week, we returned to the hospital, where she spent an agonizing 194 days during her first year of life, followed by another 181 days during her second year. Blaize was examined by numerous specialists and underwent genetic testing along with countless surgeries, but no clear answers emerged about the root cause of her health issues.
Over time, Blaize accumulated a long list of diagnoses: asthma, microcephaly, failure to thrive, hearing difficulties, sensory deprivation, GERD, chronic constipation, global developmental delay, brain damage due to oxygen deprivation, food and non-food allergies, and physical issues with her hands, legs, and feet that required braces. She also faced speech delays and learning disabilities. The list went on and on. To support her, we immersed Blaize in physical therapy, occupational therapy, speech therapy, and exceptional children’s programs. At times, it felt like we spent more time with professionals than we did as a family at home. Add to this my full-time job and the decision to pursue an EMS certification—so I could better understand the medical jargon—and the pressure became overwhelming. It felt like a powder keg waiting to explode.
The breaking point came one Friday afternoon when Blaize was in agony, screaming for over five hours with her knees curled to her chest. Her pediatrician dismissed my concerns, leaving us to endure an excruciating weekend of pain and crying. Thankfully, a Monday follow-up with her GI specialist revealed a partially impacted bowel, prompting an emergency admission to UNC Children’s Hospital. The specialist told me that without intervention, Blaize’s bowel would likely have ruptured, causing sepsis by that night. As a young mother, I was terrified and furious at the pediatrician’s negligence. After settling Blaize in the hospital, I confronted him at his office, but just two days later, I received a shocking call. CPS had been contacted with a report accusing me of Munchausen’s Syndrome. Though the case went nowhere, I never brought Blaize back to that pediatrician. Sadly, this was not the last time such accusations would follow us throughout Blaize’s childhood.
Despite these immense challenges, Blaize’s resilience and determination proved remarkable. A developmental pediatrician at Duke University once told us there was less than a 20% chance she would ever walk or talk, and an even smaller chance she would graduate high school. But with determination, countless hours of work, and support from myself, my mother, her paraprofessionals, and Blaize herself, she defied the odds. By three and a half, Blaize was walking. Later that same year, she began talking. In June 2018, she graduated high school with a true diploma. Since then, she has taken college courses, moved out on her own, gotten married, and even had a son, Zayden—all without knowing she had been living with Myotonic Dystrophy her entire life.
The pieces of the puzzle finally came together after Zayden’s birth. As I watched him battle health issues eerily similar to Blaize’s, I couldn’t shake the feeling of déjà vu. My persistence with the doctors at WV University led to the discovery: both Blaize and Zayden share the same genetic disorder, caused by a repeat in the DMPK portion of their 19th chromosome.
Today, we embark on a new chapter in our journey. Armed with more information and resources, we are determined to give Zayden the best possible chance at a happy, fulfilling life.
Zayden and his mother, Blaize
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