On January 16, 2012, we welcomed our second son, Wyatt, into our family. My pregnancy was relatively uneventful, but the delivery became a different story. At some point in my pregnancy, I lost all my amniotic fluid. My labor was considered a dry birth and though I labored quickly, the umbilical cord was wrapped around Wyatt’s neck, he was blue, and they struggled to get Wyatt to cry initially. The doctor who came to evaluate Wyatt immediately after birth told us “ Your baby is fine” and we’ve always lived by those words even before we knew the whole story. By that evening though Wyatt was struggling to breathe and having possible seizure activity and they took him to the NICU for evaluation and he remained there until his discharge. The list of things almost became unbearable: small brain hemorrhage, fluid on the brain, ASD and small PFO in the heart, congenital contractures or stiffness in all his joints, which we now know as arthrogryposis, and the list of unknowns that the doctors just couldn’t explain at the time. Genetics, cardiology, neurology, gastroenterology, ophthalmology, urology, rehab medicine, dieticians, physical therapists, occupational therapists, speech therapists, aquatic therapists, all became part of our world. It took three years before we had an official diagnosis. An Ultra-Rare De Novo mutation on NALCN gene with CLIFAHDD syndrome. This mutation happens in one in one million births and is a spontaneous mutation at conception. So far there are only 100 diagnosed cases worldwide. Wyatt has contractures of his hands and feet, he is developmentally delayed, has hypotonia, non-verbal, and non-ambulatory; though he is an amazing army crawler. He has feeding and gastrointestinal issues and he uses a g tube for all medications and fluids but loves eating pureed foods by mouth. Though we don’t know what this mutation means for Wyatt long term, we know that God is in this story, and he will always prepare a path for him.
Despite all of Wyatt’s medical and physical difficulties he is the happiest eleven-year-old. His smile and contagious laugh light up a room. His greeting of “Hey” and a high five will melt your heart. You want to be in his presence and if he has a POP! tube in his hand, you better be willing to spend a few minutes to make it POP! My prayer for Wyatt in the words of his favorite Toy Story character is that he continues to Reach for the Sky and to know that he is loved “To Infinity and Beyond.”