What's wrong with Mariana?

Toward the end of July, Mariana underwent a blood test and we found that her liver enzymes were outside the range of normal.  Throughout the weeks that followed, her condition worsened rapidly -- her liver enzyme numbers moved quickly to terrible levels, and her liver tissue itself grew scarred and fibrous.  She began to develop the hallmark complications that accompany liver failure:  she stopped growing; she turned yellow; her blood's coagulation was compromised; fluid began to leak out of her vessels and organs and to fill up her abdominal cavity.  

Tests revealed that she had a rare bile acid synthesis defect, which was treatable.  Our jubilation quieted when we saw that the positive effects of treatment were outpaced by the deterioration of her liver.  It became clear that she would require a liver transplant.  She joined the waiting list for transplant on August 31, 2010.  Priority is determined by the patient's blood test results, and Mariana's were dire.  She went directly to the top of the list.

On September 13, 2010, Mariana received her new liver, thank God. The surgeon emerged from the operating room with the good news that Mariana had survived surgery nicely, but also with the curious declaration that she had neither a bile duct nor a gallbadder. Along the way, doctors had often remarked that her condition resembled biliary atresia, but it seemed terribly unlikely that she would have two major and independent liver diseases -- funnier yet that she could have the rarest disorder and the most common, simultaneously.

The pathology report, prepared by one of the world’s pre-eminent pathology experts, indicates that she had both conditions.  Her liver had no bile duct, so bile was unable to flow out of her liver as it should; adding insult to injury, her bile  was defective and malignantly hepatotoxic.  The old liver simply marinated in toxic bile juices.  That liver never had a chance.

There are no machines that replicate a liver's function. By mid-September, Mariana's liver was hard and green and ruined. Without transplant, she would never have survived. We thank God for the miracle of organ donation, which saved our child's life.