A General Pediatrician's Perspective

There were hints from the start that Mason was going to be special. The second son of Marc and Sarah Shaffer, he was the product of an uncomplicated term pregnancy and delivery via repeat Caesarian section. Unfortunately, Mason was readmitted to the hospital for an episode of convulsions shortly after he was discharged from the newborn nursery on his fourth day of life. After a routine Neurology consult, work-up for infection, and imaging of the brain which were all negative, he was discharged to home with his parents on an anti-convulsant medication to begin what should have been a typical infant’s lifestyle of feeding, growing and development. I saw Mason for two perfectly healthy well-visits in his first month of life. Then he, like many other newborns that Spring of 2009, came down with a case of acute bronchiolitis, a wheezing episode with cold symptoms, which resolved after about a week due to his parents’ diligent care and in particular Sarah’s steadfast efforts at breast-feeding.

By the two-month visit, Mason continued to grow well and meet developmental milestones, and Sarah’s concerns were focused mainly on a chronic nasal congestion which I suspected was due to functional gastro-esophageal reflux. By four months, Mason had almost doubled his birth weight at 15 ½ pounds, but Sarah began to have developmental concerns for poor eye contact and head control, and inability to roll over. This was immediately following a four-day bout of fever for which Mason was diagnosed with an ear infection and started on oral antibiotics. He was referred to a Pediatric eye specialist, and by the time I saw him again at five months he was wearing a right eye patch and eyeglasses from a diagnosis of near-sightedness and left-sided amblyopia or “lazy eye”. At this point Mason was also taking an anti-reflux medication twice daily, had started solid foods and was gaining weight at 16 pounds. However, there were still concerns of nasal congestion and now coughing, particularly after feeds. Sarah also happened to mention that despite regular bowel movements, Marc thought Mason’s belly was getting a bit larger.

After over ten years of practicing as a general Pediatrician, if there’s one thing I hope I have learned it is to trust a parent’s instincts on subtle physical changes in their child. Mason’s physical exam that day was remarkable for his decreased head control and despite a difficult abdominal exam due to constant crying, a distended abdomen and a large spleen that was felt about four fingers below his rib-cage. I referred Mason for an abdominal ultrasound and recommended that Sarah contact the Early Intervention program through her county for help with suspected developmental delays. Over the next week events progressed rather quickly. The abdominal ultrasound five days later confirmed a grossly enlarged spleen with normal-sized liver and kidneys and no other abnormalities. After relaying this news to Mason’s anxious parents, a trip to the lab for blood work was in order to attempt to find a cause for Mason’s symptoms. Two days later, in the midst of a typically busy afternoon office schedule, Mason’s initial lab results were called to me because of blood cell counts that were of critical concern. Fortunately, I had Mason’s lab values from his prior admission to use as a comparison and these confirmed a significant discrepancy in all of his blood cell lines. There was only one course of action- Mason needed to be admitted to a hospital as soon as possible to work-up a potential life-threatening illness, as yet to be diagnosed. I placed several urgent calls to our local children’s hospitals in the suburban Philadelphia area and all that remained was to notify Mason’s parents.

I take pride in my ability to be forthright with my patients and their parents in the office. I felt a strong doctor-patient relationship with the Shaffers throughout Mason’s initial work-up, yet there was insufficient time to have a face-to-face conversation regarding Mason’s condition. In over ten years of clinical practice, I have never had to make a telephone call like the one to Sarah Shaffer on the afternoon of August 19, 2009. After alerting Sarah that Mason’s lab results were very abnormal and would require an immediate hospitalization that evening for further testing, the next question from her logically was: “What can it be?” I had already arranged for Mason to be directly admitted to a Pediatric Hematology-Oncology unit at the A.I duPont Hospital for Children in Wilmington, Delaware, and I knew that his blood counts across all cell lines were well out of the normal range, so I felt obligated to mention to her that this could be a leukemia or possibly some other rare genetic disorder affecting his blood or bone marrow. But it would require further testing to know for sure. As the father of four young children, I could only empathize with Sarah as she digested that information. She was admirable in quickly mobilizing her resources in order to get Mason to the place that would ultimately diagnose and treat him over the next several months, undoubtedly saving his life to this point.

A blood smear at A.I. duPont was not indicative of leukemia. But it was a routine admission chest x-ray in conjunction with Mason’s other clinical findings that led to his final diagnosis of Infantile Osteopetrosis. This is a very rare genetic disorder which typically is associated with a poor, and often fatal, prognosis. Subsequently, under the skilled direction of Dr. E. Anders Kolb and the Bone Marrow and Stem Cell Transplantation Clinic at A.I. duPont, along with a perfect cord blood match from a universal donor site, Mason underwent a cord blood transplant on October, 2009, and continues to do well. The specialists at A.I. duPont have kept me updated with Mason’s progress reports at every step of the way and I look forward to seeing him back at our Pediatric offices once his specialty care is completed. Until then, I have the Shaffer’s to rely on for routine news of Mason’s daily activities and fond memories of him sharing his first birthday cake with me, his family, and my wife and kids in March 2010.

Patients like Mason are special because they don’t come along every day. I chose to be a general Pediatrician because I enjoy working with children and I am a strong advocate of preventive medicine on a daily basis. My wife used to chide me that I would quickly become bored with the routine and move onto more challenging sub-specialty training or some other administrative or consulting position, which these days is happening more often with others in my profession. But to me, seeing well over one hundred routine sick and well children a week, it is an extreme challenge to stay focused for those infrequent and special cases like Mason. A single lapse in judgment or clinical skills can be the difference in delaying care or a child achieving a long and healthy life. Mason was my proverbial “needle in a haystack” and facilitating his care to the appropriate specialists was my justification for years of education, training and clinical practice which I have never seen as mundane. Quite the opposite, to me it is the ultimate challenge. It is a privilege and honor to be a part of the medical team that contributed to Mason’s success story, and I look forward to managing his ongoing medical care as he continues to beat the odds.

Louis Giangiulio, MD
Pediatric Attending Physician
Main Line Health