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t birth Sean appeared to be a "perfect-in-every-way" 6 lb.-15 oz. newborn. He had slight neonatal jaundice, but it was not enough to require phototherapy. When I took him back to the pediatrician at 2½ weeks old because the whites of his eyes were yellow, and his skin slightly yellow, I was dismissed with "Relax, that's okay for a breast-fed baby for 4 to 6 weeks." There were several more doctor visits during the first weeks of his life, but I was always reassured that everything was ok. I took him in again at 7 weeks because he had been on a 3-day, 2-night crying jag and was spitting up constantly. I thought we would talk about my recent addition of a supplemental bottle of Enfamil and consider changing to Lactofree. But the pediatrician stopped me short and told me he was much more concerned that the baby was so jaundiced. 

We did blood work that day and I could tell when the doctor phoned, he was concerned. He asked me to bring Sean back the following week, which was around 9 weeks old. This time we saw a different pediatrician in the group who ordered more blood work. She told me she was going to refer Sean to a specialist in pediatric gastroenterology. I wasn't surprised at this point since Sean's eyes were flaming yellow-green and his skin was greenish. I was surprised, however, when she asked if I could take him that same day! 

An appointment was secured the following day and the pediatric GI scribbled on a paper towel for me his line of thinking: 1) biliary atresia, 2) Alpha 1 antitrypsin deficiency and 3) infection. Then he explained he wanted to admit Sean to All Children's Hospital in St. Petersburg, FL, for a diagnostic workup, including a liver biopsy. I hesitated as soon as he mentioned "biopsy," but when he said the word "transplant" my mind went numb. We spent four days in the hospital and the doctor ran a battery of tests, including a needle liver biopsy. He told us he felt sure it was Alpha 1. 

We went home on a Friday with our still-yellow baby. I was skeptical. The doctor phoned on Monday and confirmed Alpha 1 with the phenotype results. The liver biopsy report showed damage to the liver. Later that week we went back to the doctor's office and were told that our 10 week old, 12 lb. son had Alpha 1 antitrypsin deficiency. The doctor told us that 90 to 95% of these kids are fine and our son would just need to be monitored.

Several months later we moved to the Boston area. When I took Sean for a what I thought was a routine checkup with a new pediatric gastroenterologist, the doctor was very concerned that Sean's liver felt "stiff." Instead of asking me to return in 6 months as I expected, he asked me to come back in 6 weeks. Over the next few visits, he gently changed my mind from thinking Sean was going to be fine, to realizing that Sean was probably going to need a liver transplant. Even when he urged us to let him put us in touch with the local transplant people, I told him I didn't want to rush into that scene -- I was still thinking a transplant could be 8, 10, 12 years in the future. Since it was the week before Christmas, the doctor didn't push. 

When we went back in February, 1998, Sean was 18 months old. At this visit, the doctor firmly told us "I'm calling the Chief of Pediatric Gastroenterology at Massachusetts General, and asking him to give you an appointment." A few weeks later, we had our consult at Mass General. I was still in denial, hoping the doctor would say 'come back next year,' but he said very matter-of-factly at the end of our visit, "I'll add him to the transplant list." I was shocked.

Sean was listed at Massachusetts General Hospital in April, 1998, and had several more appointments that year as part of his preparation for transplant. In January, 1999, my husband was again transferred, this time to Ohio, and we brought Sean to Children's Hospital in Pittsburgh. After our session with the clinical nurse specialist (who I like to call the teaching nurse) where she covered, among other things, active and inactive listing, I went downstairs to the transplant director still hoping Sean could be listed as inactive! Naturally, it didn't happen that way. Once he had examined Sean and browsed through his records, he said he would recommend Sean be accepted at Children's and he hoped to transplant him within the year.

As of October 1, 1999, Sean has been on the UNOS list for a liver for 18 months. Very fortunately, we have so far not had any episodes of bleeds or ascites. His cirrhosis has progressed to the point where he will soon be classified as "end stage" liver disease. He sometimes has yellowish eyes. There are lots of things we wonder about--poor sleeping, diarrhea, milk intolerance, etc., but otherwise he is a delightful, happy little guy. He loves Blues Clues, Hot Wheels cars, his twice weekly pre-school class, and riding his trike.

At our most recent doctor's visit in Pittsburgh (9/23) we were basically told all we are waiting for is "a match" for Sean's liver. Any and all prayers are certainly appreciated. If there is any information I can share, or questions I can answer for other parents, please feel free to contact me. Thank you.

Update: The above picture was taken 6 weeks post transplant. Sean received his new liver in March of 2000 and is doing very well!