A Small Town, A Little Boy, and a Terrible Disease

(This post was written for a former patient from my days of doing general pediatrics, who turned 11 on 11/11/11)

Charley was with his mother in my office for his three-year-old check-up. Having taken care of Charley since he was born, I knew his family well. They had relocated from New York to our small New England town. As often happens in a small town, we shared many other connections. Tracy, Charley’s mother, taught at the school my children attended. We had many friends in common. Shortly before this visit, I ran into her outside the community center after dropping my kids at camp. Tracy was 5 months pregnant with a girl. “How’s your summer going?” I asked. Her smile was huge. “Great!” she replied. “Sam (her older son) is in camp so I get to spend all this special time with Charley.” She looked over at him as he ran around on the grass. “I fall more in love with him every day.”

Charley sat quietly on the exam table as our conversation flowed easily from social events to sleep habits. He was generally healthy, but was in early intervention for low muscle tone and mild language delay. His language was progressing, and the physical therapist, Tracy told me, was not concerned. “But he’s having some trouble climbing stairs,” she said. This struck me as odd, as Charley was a very active boy in an athletic family, and I made a mental note. Later that afternoon, I called our local pediatric neurologist. “I should see him,” he said. “And send him to the lab for a CPK (an enzyme made by muscles).” I called Tracy. She and her husband Benjy decided that they preferred to go to a neurologist in New York, and would schedule their own appointment, but agreed to pick up the lab slip for the blood test.

One evening several months later I was on call, the only doctor in the office with a sick child. I was on the phone with the ICU doctor at the hospital when my nurse handed me a slip of paper.

Charley S.
Critical Value
CPK 21,000

An hour later I was home, having somehow managed to transfer the little girl. I held the message in my hand. I had never seen a CPK this high, the normal number being under 100. After anxiously pacing around for a few minutes, I paged the neurologist I had originally spoken with. “He has muscular dystrophy,” he said without pause. I hung up the phone, trembling. I would have to tell a family that their son was going to die.

I needed to speak with the neurologist who had seen Charley. But I didn’t know who it was. So I had to call Tracy. I tried to be calm, explaining that the test results weren’t quite normal and that I wanted the name of the neurologist they had seen in New York. She gave me his number and asked, “How abnormal are they?” “They are high”, I replied. “I’ll speak with the neurologist tonight and meet you in the office first thing in the morning.” “OK”, she said. I hung up the phone and said to myself, “She knows.”

I spent the next hour on the phone with the New York neurologist. He said it was most likely Duchene’s muscular dystrophy (DMD). He described the current prognosis as “wheelchair by 10, death by 20”. But he suggested that I share with Charley’s parents that current research in gene therapy might offer a cure in the next 10-20 years. He wished me luck. During the few minutes that I slept that night, I had tormented dreams about telling them.

Tracy came alone. Years later she told me, “I purposefully kept quiet that morning as Benjy kissed the kids goodbye and went off to work just to give him one more morning of a normal life. ”

The nurse led her to an exam room and reported to me, “She’s a little shaky.” “That makes two of us,” I replied. I took a deep breath and walked in the room. I sat next to Tracy and held her, both of us sobbing. However, I was sure to reinforce that there was hope- that current research offered the possibility of a cure.

After a few weeks of living in shock, Tracy and Benjy took action. They started Charley’s Fund, whose sole aim is to raise money for research to find a cure for DMD. In seven years they have raised over $17 million. In the Fund’s most recent brochure, they write, ”All that “plugging away” has led to a very exciting moment in DMD history: first-ever human clinical trials for DMD boys.”

Tracy told me of a recent visit to the neurologist. “The doc examined Charley and just blurted out "Wow...this is epic!" He could barely believe that Charley can hold his head off a pillow when lying on his back for 60 seconds. The fact that he can even jump off the floor, let alone a considerable distance, is amazing and I know that is due to the fact that we received his diagnosis early and started steroids, supplements, night braces, and a nightly physical therapy routine. I know many, many parents of DMD kids who were not diagnosed until 6 years old or even later because teachers, physical therapists, friends, even pediatricians tell them that all kids develop at their own pace and your son will catch up in time.”

I think often of that moment I stood looking at the lab slip. It was a last moment of calm before a collision between the small town doc and the family whose life would be forever changed. I sometimes wonder if it was the intimacy of the small town life that in some way led to the early diagnosis, and to the explosion of energy now propelling Charley’s family, and all the other boys with this devastating diagnosis, forward toward a cure.