Mystery Diagnosis: Jocelyn

In April, 2008, Jocelyn came in to my office complaining of chest pain. Most 8-year olds don’t complain of chest pain. There are lots of stomach aches, occasional headaches. Many, many minor injuries from active play. Chest pain doesn’t occur to them. Her parents feared there was a problem with her heart.

In children, chest pain is almost never heart-related. The heart is made from powerful muscle, and it’s working constantly. Adult heart rates are about 80 times a minute. Kids can be well over 100; when they are running around, much higher than that. With active children, it often works even harder. When adults get heart-related pain, it’s almost always because the heart muscle isn’t getting all the blood it needs to meet its demands. Activity increases the demands on the heart, and the chest pain usually gets worse. In Jocelyn, if there were something wrong with the heart’s blood supply, she would have had to have been born with the problem. So it would have shown up before now. Still, I asked her some basic questions. The pain didn’t come with activity. It never caused her to stop what she was doing and rest. She had no problems breathing, even when playing soccer. Her chest didn’t hurt during activity, but her pain was worst on the nights of her most active days.

She wasn’t sick in any way. She had no rashes. She denied any falls or collisions with other people or objects. Nobody hit her. None of her joints hurt or were red or swollen. She had no headache. Her mother confirmed that she was acting just as usual. Which was always enjoyable for me. Even at 8, she seemed like she was going on 18. Unusually articulate and good-humored, she had an endearing confidence and an uncanny ability to participate in adult conversation as a peer.

I had been Jocelyn’s doctor for years. I knew her well and knew that she was very intelligent. She didn’t have anxiety, but she was worried that this could be her heart. She told me so.

Everything in her physical exam was normal. I listened for a long time on her chest and back with my stethoscope. I didn’t think it was her heart, and told her so as gravely as I could. She seemed relieved.

I asked her to stand and do the following maneuver. I had her hold her hands together behind her back with her arms completely straight. Then lift the hands as far as she could. This hurt her chest! I asked her to do it again, but this time I pressed gently on the spots where her sternum (breastbone, shown in green in the picture (but not green in real life)) meets her ribs. This hurt a lot.

Her diagnosis was costochondritis, an inflammatory condition of the joints where the ribs meet the sternum. (Yes, it’s considered a joint because it moves, every time you take a breath.) It’s usually treated with anti-inflammatory medicines, like ibuprofen, and rest.

It went away just as I had predicted. A couple of months later it happened again. At one point, I ordered a chest x-ray. it was normal. Since April of 2008, I have seen her 4 or 5 times for this problem, and dealt with the problem over the phone another half-dozen times. Why does she keep getting this?

In March of this year, I did an extensive panel of blood tests to look for possible diagnoses. All of them are unusual in someone her age, but all remotely possible. Immune deficiencies, Rheumatoid Arthritis, Lupus.

Then, this Spring, she had the pain—and her knee hurt at the same time. It was so intense this time that she was crying and didn’t want to get out of bed. I rushed through an insurance authorization request for a bone scan. In a bone scan, radioactive technetium-99 would get injected directly into her bloodstream. It is taken up by her bones, and concentrates in areas of disturbance such as infection, inflammation, and cancer. Special photography (not too different from the cathode-ray tube of an old-fashioned television set) is used to capture the radioactive hot spots. I hoped that the bone scan would show areas of increased bone activity and provide a clue to her diagnosis. From that, I could fashion a treatment, or at least know what specialist to send her to.

It was completely normal.

I’m not completely back to square one. I now have a pretty long list of diseases and conditions nobody would want to have that she probably does not have either.

I’ve been thinking about her growth. As I pointed out, she’s really smart and developmentally precocious intellectually. Physically, she’s developmentally normal except for her short stature. Is there something wrong with her growth? Are her bones growing unevenly or in a way in which there are subtle pressures concentrated in the center of her chest? How can I tell? In past years, I’ve sent her to both an endocrinologist (to look at growth hormone issues) and an orthopedist (to look at bone and joint issues), but they said she was normal. Who do I ask now?

ADHD: Girls

When Chloe's mother brought her into my office, she didn't know what was wrong. She told me that her 10-year-old was doing very poorly in school. She seemed to get along with everyone very well, but didn't have many friends. When her mother sat with her while doing homework, it didn't seem to be too hard for her, and she appeared to know and understand everything required. But reports from her teacher were that she wasn't doing a lot of the classwork and she almost never turned in her homework. Chloe always liked talking to me and her mother asked if I could try to figure out what was going on.

I asked a lot of questions about social changes in Chloe's life, but there hadn't been any. She continued to be well medically, and was growing fine. Chloe herself said that she wanted to do better in school but didn't know how. She denied having difficulty with reading, or writing, or math, or social studies. She didn't know why she didn't hand in her homework, but was aware of many days when her teacher asked for homework but she either didn't know there was homework or didn't know what the assignment was. She has also sometimes been surprised by tests in class she didn't know or forgot were coming. She never got in trouble in class. Her teacher said she would often be caught daydreaming. I asked how long this had been going on. Her mother said all year. I asked about last year and the year before that. After some thought, her mother said that these were all comments she had heard before, even in kindergarten.

Only a few years ago medical authorities taught that about 4 or 5 boys had ADHD for every girl. This was undisputed, and confirmed by the general experience of elementary school teachers everywhere. Almost always, it was the boys who got in trouble both in and out of the classroom. These days, most books will say that it's twice as many boys than girls.

Is ADHD truly more common in boys? Or do boys force us to give them the diagnosis twice as often because of their behavior? Perhaps because boys with ADHD are more often singled out for their disruptive actions in the classroom, they are more likely to get sent to the principal's office, more likely to have their parents called by the teacher, more likely to get taken to the doctor, and thus more likely to get diagnosed with ADHD. So maybe ADHD isn't twice as likely in boys, it's twice as likely to get diagnosed in boys. (I have mixed feelings about this. Is the overdiagnosis of ADHD in boys because it's more likely or are boys unfairly singled out by our elementary school methods and institutions?)

Luckily, there are really smart scientists like Stephen Hinshaw at the University of California, Berkeley. He and his colleagues have been following and researching girls with ADHD for more than a decade. What they have found suggests that it's probably close to equally likely in girls as boys, but that many more girls never get diagnosed. Those that do, get recognized much later, sometimes in late elementary school or even when they are teenagers. Those that never get diagnosed, never get treated. Since there's good evidence of the effectiveness of treatment, some girls really have a tough time. For all girls with ADHD, they often have continuing difficulty both socially and academically, and have a much more difficult adolescence.

When I received the reports from Chloe's current and prior-year teachers (I have them fill out questionnaires), it was clear that Chloe had ADHD, Inattentive type without hyperactivity. I urged mom to consider medication, which has been shown to be very effective and safe, but she didn't. We'll try some behavioral therapy, I guess. While it avoids medication, it is significantly less likely to be effective by itself.

Many boys are brought to me for evaluation of ADHD. Usually they are 4-8 years old or so, just starting their school years. Where are the girls? How many have been missed? The words used to describe the behavior of boys who are referred are almost always negative: disruptive or out-of-control, for example. For girls, the words are not so scary: daydreaming, forgetful. I wonder if this is influenced by our different expectations for girls. Maybe because the words we get from teachers describing the girls aren't so alarming, we don't rush to take action.

Studies show that early patterns of school failure are a real warning sign. Early intervention for problems like ADHD or learning disabilities are often very effective and help the child all through school. Girls with ADHD have continuing social and academic problems, are more likely to drop out, have more substance use problems, eating disorders, and depression. Isn't that worth preventing if we can?



The photograph is by Jim Steinhardt, and is from the 1940's.