Hours after the birth of his son, Daniel was in an elevator with the treating NICU (Neonatal Intensive Care Unit) doctor when the doctor said, “‘You might want to give him a name…’ It wasn’t the words but the urgency in his voice that was troubling. It was then that I realized we weren’t just dealing with undeveloped lungs … we were moving into the rare.”
William was born one month early on July 18, 2011. The birth was an emergency cesarean section and marked the first of 52 consecutive days that he stayed in the NICU under strict observation and testing. The process of figuring out a diagnosis was long, isolating and emotionally difficult for Daniel and Melanie. One day when they were finally alone in the room, Daniel grabbed his son’s chart, reading it aloud while Melanie began typing the unfamiliar terms into her phone.
That was the beginning of a six-month diagnostic odyssey that led the family into uncharted waters. “We knew it could be a very long road to diagnosis” and Daniel admits that the limited knowledge they had “was horrible but comforting.” Despite feeling stranded and lost, Daniel and Melanie worked as a team to educate themselves about every rare disease William potentially had, employing a process of elimination.
“You’re breaking down inside,” says Daniel. “Then somebody says they may have an answer … Whether that answer is good or bad, it is at least information that takes you out of the dark.”
Following an instinct that William’s condition may be related to the unresolved passing of two boys born to Melanie’s grandmother, Melanie began advocating for specific tests. “You could tell by the look on the doctor’s face, she had put it together—the light bulb went off. Even before the muscle biopsy, we pretty much had confirmed X-Linked Myotubular Myopathy.”
As soon as the diagnosis was confirmed, Daniel and Melanie joined online communities comprised of other MTM families to whom they asked medical questions. “We knew we could trust other parents,” Melaine explained. The family was immediately befriended within the MTM community, feeling acknowledged despite their vulnerability. “You see another parent post a picture of their child at a baseball game and it’s really powerful. It gave us a lot of confidence—that we were going to be okay.”
In managing the daily needs of their two children, Daniel and Melanie strive to achieve a sense of normalcy. Yet they equate the added element of William’s MTM with living under a cloud, “and you never know when it’s going to rain.” Sometimes there are scares that William is having a mucus plug or another medical situation is unfolding. Though usually, “it is everything other than a medical condition”—just William being a three-year-old, and a very special one at that.