2nd Excerpt from Chapter 2 - "Small Baby, Big Problem"

“Bill-ee-air-ee uh-trees-ya.” When Dr. Hyams delivered my diagnosis, dramatically annunciating each syllable with emphasis, Mom and Dad repeated it out loud slowly so they could remember it later when they had to relay the news to our extended family and friends. As serious health issues go, Dr. Hyams bluntly started with the facts breaking it down as easily as possible for them. Biliary atresia is a rare liver disease that only affects infants. In 1981, it affected one in 20,000 babies in the United States. A rare disease affects fewer than 200,000 people. It was indeed rare. 

The liver, even a baby’s liver like mine, which was the size of a lima bean, plays a big part in helping food digest, Dr. Hyams explained. Biliary atresia targets the liver’s bile ducts, a system of tubes that carry bile (a digestive liquid) from the liver to the gallbladder and the small intestine. Bile is essential for digestion. Bile breaks down fats into fatty acids, which the digestive tract can use to fuel the body. With biliary atresia, however, the cause of which is unknown, the bile duct system becomes scarred and blocked. Consequently, bile can’t flow into the intestine like it should, so bile builds up in the liver, which leads to scarring (cirrhosis) and loss of liver function; food can’t digest like it’s supposed to, which is why I wasn’t gaining weight. Biliary atresia can be fatal especially without a transplant, Dr. Hyams repeated. But luckily, my biliary atresia was caught early, which was good, he said.

Dr. Hyams was already well known in the field of gastroenterology by the time he started at Hartford Hospital in July of 1980. When I became his tiny patient in 1981, I was one of his very first patients with biliary atresia. He was young in his career, but brilliant in his field.

“I was Doogie Howser,” Dr. Hyams said, referring to Doogie Howser, M.D., the medical comedy drama TV series about a 16 year old genius doctor that ran for four seasons, from September 1989 to March 1993, starring Neil Patrick Harris, who played  the title role of the teenage Doogie Howser, M.D.

Dr. Hyams explained that the first treatment for biliary atresia is the Kasai procedure, which was the routine standard of care for the time. Named after Dr. Morio Kasai, a Japanese surgeon who developed the technique in 1951, the Kasai procedure revolutionized the treatment of biliary atresia in infants throughout the world. The Kasai procedure involves the liver’s plumbing being rerouted. Doctors carefully remove the delicate liver’s damaged bile ducts and replace them with new ducts, constructed from a small segment of a tiny patient's own intestine. The new ducts connect the liver to the intestine, forming a Y-shaped passageway, so bile could drain like it should normally.

“We understood the Kasai procedure wasn’t a full-time or long-term fix,” Dad admitted. Still if successful, the surgery could slow liver damage and delay or prevent complications later, buying me more time. In thirty percent of children, the Kasai procedure was a permanent success, negating the need for a liver transplant. My parents clung to that hope.

The downside—seventy percent of children with biliary atresia who underwent the Kasai procedure would eventually develop cirrhosis and end-stage liver disease. In other words, biliary atresia was fatal if the Kasai procedure didn’t work. However, my parents had no other choice but to take this next step.

At my six-week well-child checkup, however, it became apparent I was losing ground in the hefty baby department. Infants on average should gain a pound per month for their first six months, but the needle on the analog scale in the pediatrician’s office wasn’t budging.

“Hmm … John should have gained a pound and a half by now,” the pediatrician said, squinting with concern at my growth chart. Why was I still stuck at my birth weight, especially since I was a good eater? The doctor mentioned my skin was a little yellow too, even noticeable against my fine wisp of blond hair.

“I see what you mean,” Mom said, suddenly noticing the sallow tinge to my cherub-like complexion.

With a quick shrug, the pediatrician said I probably just needed a change of infant formula. Almost like a flight attendant during a bout of turbulence, his face was suddenly emotionless though. Was this just a bumpy ride or a sign of something truly serious? The pediatrician didn’t seem to know any more than he was letting on, but Mom and Dad couldn’t be sure.

“It’s probably nothing,” the pediatrician said, as if reading their worried minds.

Still, the doctor wasn’t taking any chances. With a whisk of his pen across a prescription pad, he sent us to a specialist for a series of increasingly more inclusive testing at nearby Hartford Hospital.

After a week of blood tests and ultrasound scans, the specialist, Dr. Jeffrey Hyams, a leading pediatric gastroenterologist, said he thought he knew what the problem was, but he couldn’t be sure. Exploratory surgery would be needed and hopefully yield some definitive answers.

Soon, with my trip to the operating room complete, my parents got the full story. Even though the doctors had been 99 percent sure I didn’t have the most serious illness mentioned only as a remote possibility, that’s in fact exactly what I had: biliary atresia, a potentially fatal liver disease. The diagnosis was like a stab to my parents’ hearts, as they sat there in my hospital room, stunned.