The CBADD parent group made the following public comment at the 4th Discretionary Advisory Committee on Heritable Diseases in Newborns and Children, May 21, 2014.
The parent advocacy group for the Council for Bile Acid Deficiency Diseases (CBADD) wishes to make a public comment urging the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) to directly establish screening for inborn errors of bile acid metabolism in newborns. There are nine, often fatal, congenital deficiency enzyme defects which involve bile acid synthesis affecting approximately 400-500 newborns each year. There is a subset of the approximately 4,000,000 live births that numbers about 20,000 newborns. It is this population that is often grouped together as having idiopathic cholestasis; detectable by a simple common test, direct bilirubin, that is often not done. This is the group (20,000) that should be screened for these often fatal inborn errors of bile acid metabolism. This efficient screening would catch nearly all of the DNA mutations in bile acid deficiency diseases allowing lifesaving treatment to begin immediately.
The parent advocacy group of CBADD understands firsthand the dire consequences of late diagnosis of bile acid deficiency diseases. Undiagnosed and untreated, our children have suffered from fat-soluble vitamin deficiencies, failure to thrive, delayed growth, bouts of profuse perspiration, and the sickening buildup of toxins in their little bodies. With treatment, some of our children are living completely normal lives. Others have attained a far superior quality life than living under the crippling effects of untreated bile acid deficiency and the threat of early death. Where once our children’s day began with jaundice, blindness, fragile bones, no appetite, danger of brain bleeds, and crying, the kind of crying nothing could comfort, now as each day dawns there is laughter, learning, eating that does not sicken, strength to run and play, and no more tears.
The United Network for Organ Sharing lists around 494 children between one and five awaiting liver transplants. Perhaps as high as 20% of these children would not need to be on the list if there was a newborn screening mandate for bile acid deficiency disorders. Bile acid deficiency disorders are treatable, and treatment is highly effective if begun right after birth.
Five to seven years, from a parent’s point of view, is unacceptable when every hour is critical. We encourage you to push the envelope.
