“Mommy!” Hearing her 9-year-old son cry out, the woman hurried to the bathroom. Through the steam of the still-running shower, she could see him bent over the sink. His slender, wet body shivered in the cold air as he vomited. She grabbed a towel and wrapped it around him, then stroked his head as he retched again and again. When the paroxysms subsided, the mother gently wiped his face and carried him to his bed. He had been sick for nearly a week and she could feel that, skinny as he was, he had lost more weight.
She called the pediatrician’s office but knew no one would be there; on Saturdays, it closed around noon. It was the week before Christmas, and that night the mother and father were supposed to take the kids to trade gifts with their aunts, uncles and cousins. Did the boy want to go? Oh, yes, he insisted. He felt O.K. But when they got there, their normally social son lay sprawled on the floor, enjoying the hubbub and the gifts but too sick and tired to join the excited tumble.
Fortunately, her son’s doctor, Deborah Greenhouse, was on call. The mother took her son in on Sunday morning to see her.
From Healthy to Sick
The boy had seen Greenhouse for his routine annual physical just three weeks earlier. Then, he was fine — lively, funny, engaged. Two weeks later, he went back for a sore throat and a stomachache. He didn’t have a fever, but he had thrown up several times, and it hurt to talk. His throat was red, and he looked a little dehydrated; both doctor and mother, who was a nurse, thought it was probably some kind of virus. He needed to drink more, and he would be fine in a day or two, they both agreed.
He was well enough to go to school for a couple of days that week, but by Thursday he felt bad again, and by that weekend he was a shadow of his usual self: tired, nauseated and much too quiet. When Greenhouse saw the child that Sunday morning, she was surprised by how sick he looked. He had clearly lost weight; he was listless and miserable. On careful examination, she noticed that subtle patches of slightly darkened skin shadowed his face, neck and upper torso, and his lips were dry and cracked. His heart was racing. When she saw a thin child with stomach problems, she worried about Type 1 diabetes and celiac disease. Greenhouse sent the mother and child to the lab for blood tests.
A couple of hours later, Greenhouse got the lab results. The child’s blood had critically low levels of sodium — one of the essential salts in the body. Low sodium, or hyponatremia, as it is called, isn’t a rare finding in children — vomiting or diarrhea can cause the sodium level to dip as the child becomes dehydrated. But typically it’s a mild drop of a few points below normal. This child’s sodium was much lower than that. And the causes of this type of electrolyte disturbance are rare and serious.
Disorders of the kidney — the organ that has the job of maintaining the right levels of all the salts in the body — are the most common causes of hyponatremia. Hormonal abnormalities, due to deficiencies in thyroid or adrenal hormones, can also cause low sodium levels. Head trauma, too, can lead the brain to misdirect the kidneys, resulting in salt-wasting. No matter the cause, untreated, this degree of hyponatremia can be deadly. Greenhouse told the mother to take her son to the hospital right away.
Greenhouse called the pediatric I.C.U. at Prisma Health Children’s Hospital in Columbia, S.C., to let them know she was sending her patient over. With a sodium level this low, the boy would need to be admitted to intensive care. When Greenhouse looked at the boy’s lab results, she thought she knew what he had. It wasn’t either of the diseases she had initially been worried about. His blood glucose level was fine, so he didn’t have diabetes. And he didn’t have any of the antibodies that indicate celiac disease. A closer look at the blood chemistries revealed that while low sodium was the most drastic finding, it was not the only abnormality. His potassium was slightly high. The combination of low sodium and high potassium suggested that the boy had a problem with his adrenal glands.
In children, adrenal insufficiency, also known as Addison’s disease, is usually caused by misguided warrior cells of the immune system destroying the thumb-size adrenal gland that sits on top of each kidney. These glands are the source of the “fight or flight” hormones, adrenaline and cortisol, which help the kidney manage the body’s level of sodium, potassium and glucose. When the adrenals are out of whack, patients are sick and tired. They often can’t keep anything down.
Greenhouse thought of the darkened skin she noted on the boy’s face and neck — another clue to the diagnosis. When the brain detects the lack of cortisol and adrenaline, it will flood the body with chemical messengers in an effort to stimulate the glands that can no longer respond. Some of these messengers cause the skin to darken.
Pressing Her Case
Greenhouse explained her thinking to the pediatrician on duty in the I.C.U. He was skeptical. Lots of things can cause these abnormalities in electrolytes, and Addison’s is really rare. They would take it from here, he assured her.
Later, Greenhouse reviewed the notes the doctors had put in the electronic medical record. No one had noted the patient’s darkened skin, or the fact that the child’s doctor had noted some subtle hyperpigmentation. They did comment on how tired and dehydrated the boy was and started him on intravenous fluids. If it was just dehydration causing the hyponatremia, the boy’s sodium should improve with these fluids.
By morning, his sodium level was higher but still far from normal. And his potassium was even worse than it had been. The doctors in the I.C.U. asked the endocrinology team to see the patient. They immediately ordered a test to look for the loss of adrenal-gland function, characteristic of Addison’s. But they were also worried about a disease even rarer than Addison’s — an inherited disorder called X-linked adrenoleukodystrophy. This is an unusual genetic abnormality that can look like Addison’s because it often starts with the deterioration of the adrenal gland. But it can also go on to destroy the nerve cells in the brain and the body, causing symptoms from seizures to blindness to difficulty eating, speaking and walking. There are different versions of the disease, and depending on which type is inherited, it can strike at any time, from infancy to adulthood.
Is It Bad or Is It Terrible?
The first test results confirmed that the boy’s adrenal glands were not working. He would need to take pharmaceutical versions of these hormones. But they still needed to find out if it was Addison’s disease, caused by an immune-system misstep, or the even more worrisome inherited X-linked adrenoleukodystrophy. The endocrinologists sent off blood to look for both diseases. The answers wouldn’t come back for weeks.
Once the doctors in the I.C.U. started giving the boy the steroid hormones that his adrenal glands were no longer making, his sodium came up and his potassium went down. The nausea and vomiting stopped, and almost overnight he was the happy, energetic 9-year-old he had once been.
It took weeks, but the results finally came back. He had Addison’s disease. His mother understood that her son would have to deal with this for the rest of his life, but they would figure it out; she knew it could have been much worse.
Over the next few weeks, the boy learned about his disease and how to manage it. He wanted his friends and schoolmates to understand his new diagnosis and how it might affect him and require him to take medications. This January, he put together a PowerPoint presentation on his disease. One fact really made an impression on the boy. The 35th president of the United States, John F. Kennedy, had Addison’s. “So you could be president!” his teacher remarked. “And if you do,” he added, “I get to visit the White House.”