My daughter showed difficulty breathing right from birth; it was rapid and irregular. She often appeared blue around the eyes and mouth and would sweat while being nursed. Despite this, and her resulting failure to thrive, it took doctors until the age of four months old to diagnose her with Neuroendocrine Hyperplasia of Infancy (NEHI).
NEHI is classified as an interstitial lung disease, and though it is a rare disease, it is one of the more common forms. Patients with this disease will have an increased number of pulmonary neuroendocrine cells in their lung tissue; this occurrence is what leads to the diagnosis, but why they do exactly is unknown.
Signs and symptoms include rapid and difficult breathing, low levels of oxygen in the blood, and often crackles in the lungs are heard on stethoscope. A high resolution CT scan or infant pulmonary function test (iPFT) are used to diagnose NEHI, and findings include a characteristic visual pattern of the lungs that resembles ground glass opacities, overinflation/underinflation of certain areas of lung tissue, and air trapping.¹
Her oxygen saturations were in the mid 80s (normal is 95+), so she was placed on supplemental oxygen 24 hours a day. For anyone who has dealt with home oxygen I’m sure the feelings are mutual. It sucks. We had 50 feet of tubing looping through our house and a small army of oxygen tanks guarding our entryway. Everywhere we went—to the park, to the grocery store, to the doctors’ office, to my other child’s preschool—we had a tank on one of our backs with tubing leading to our daughter. We lovingly referred to it as her leash. While we would be mortified if anyone else referred to it as such, for us, it somehow normalized it.
When our daughter started to mobilize the challenges went up. Her tubing would get stuck around tables, couches, and under carpets despite our efforts to clear any clutter. Our poor son tripped over the tubing numerous times, resulting in bloody noses from his face plants. At the park, it became a challenge to follow her through the apparatuses; a tough mudder of sorts. Annoying, a nuisance, painful, a game, funny…many mixed emotions about oxygen tubing.
Thankfully, by the age of three, we were able to wean her off the daytime use of oxygen. Nighttime oxygen was a breeze in comparison. By age five, shortly before the start of Kindergarten, our daughter was completely weaned off oxygen, and a few months later we finally had the confidence to say goodbye to the home oxygen program. No more tanks, no more tubing, no more oxygen concentrators, no more tape on her little face; we said goodbye to it all.
We still keep an oxygen saturation monitor; a goodbye to oxygen isn’t a goodbye to the disease itself. She still breathes more rapidly than others, she still tires more easily, and she huffs and puffs after exercise. However, her body has learned to compensate and her lungs have grown in size making the symptoms less so. The oxygen saturation monitor equals peace; if we are concerned, we check her saturations.
Many children with this disease still require some use of oxygen. Every child is unique with her needs, and we feel blessed that our daughter is free of her tubes. We feel thankful that this chapter of her and our life appears to be over.