Eli’s Successful First Year

Reading from an old battered medical textbook, the emergency room pediatrician told us that our five-week old son would either die or suffer mental retardation. If he survived, the doctor said, then there would be a prolonged recovery period and an extended stay at an assisted-care facility. The prognosis wasn’t hopeful, the outlook bleak. Our dreams were crumbling like so many stale cookies.

The sky was too blue, the autumn day too lovely for this to be happening, I thought as I rode in the ambulance with Eli to the Johns Hopkins Children’s Center on November 19. The admitting physician, Dr. Alicia Neu, debunked everything but the diagnosis: congenital nephrogenic diabetes insipidus. Eli would be fine, she said, as she handed me a half dozen copies of scientific journal articles and emails on NDI. Eli would grow up like any other child, would be able to lead a normal adult life. He had not had a stroke, there was no brain damage.

Our nightmare had begun two days earlier when, after forcefully vomiting up several feedings, he became lethargic and wouldn’t wake to eat. Eli had never nursed well. I had tried, without much success, to breastfeed Eli, but it had been frustrating for both of us, and after three weeks I gave up. He never really drank his formula well either¾ feeding time was always an ordeal. When we brought him into the emergency room, we learned that his diabetes insipidus was probably the cause.

Eli’s sodium level was 166 when we brought him into the emergency room, and climbed to 177 during the two days he’d been at the general hospital. During the next three weeks at Johns Hopkins, his sodium level was slowly brought down before the tinkering began. Would medicines be necessary? Which ones, and how much? Dr. Neu, after contacting physicians who might have information about NDI, determined that a mix of amiloride and hydroclorathyazide would be the best for Eli. Eli was finally discharged in early December. I felt like I was bringing him home for the first time. He was a different child than the one I’d brought home just two and a half months before. This Eli was a cheerful, easy-going baby, the other had been a perpetual crier. The difference was that now, Eli wasn’t thirsty.

Eli was sent home with a nasal-gastric tube, through which we were to fed him, as Eli refused to drink anything but water; at night we placed him on a pump to keep him hydrated and fed. Despite attempts to wean him from the n-g tube and the pump, he refused to take food. He’ll taste food and put things into his mouth, but he refuses to eat. In August, we decided to have a gastric tube inserted, as the n-g tube was becoming unmanageable.

Eli is now almost a year old and weighs almost 24 pounds (his birthday is October 15; he weighed 7 lbs.m 14 0z. at birth). He’s developmentally normal, except for his food refusal. He’s walking, and he’s gone through all the other milestones at age-appropriate times. He’s a happy and outgoing little boy, who loves his water and eagerly reaches for his water bottle, which we leave in his crib, in his playpen, and lying around on the floor where he can get to them.

Eli’s successful first year is thanks to his general pediatrician (Dr. Dana Wollney) and his pediatric nephrologist (Dr. Alicia Neu). These doctors cooperated with each other and learned whatever they could about the disease and treatment, and kept each other updated about medicine dose increases, Eli’s sodium levels (which were checked daily, then weekly, biweekly, monthly, and now only periodically), and his overall care and progress. Dr. Wollney went out of his way to ensure that my husband and I had complete access to him at all times, even giving us his home telephone number and beeper numbers. "Call me anytime," he said.

Through genetic testing, we’ve learned that Eli’s condition was caused by a gene mutation, so we have little concern that any future brothers of his might also have NDI. We’ve just begun seeing an oral/speech therapist to work on Eli’s food refusal (his verbal skills seem normal so far). My husband and I know there’ll be many challenges ahead, but most of them will be the typical parenting challenges most children put their parents through.

Today, the sky is so blue, and the fall chill means that winter is coming soon. Autumn is my favorite season, and our family’s future looks bright.