There are sad days in genetics clinic to be sure. Caring for the child with fatal illness or the couple whose fetus has terrible anomalies is heart-wrenching. Working through parental grief reminds me of how prized a pregnancy can be and how shattering it is when the anticipated baby will be lethally malformed or destined for terminal illness. Yet inborn disease is not my greatest tragedy, for I too often confront mental devastation that is completely preventable.
As the supervising physician and medical geneticist, I suggested doing the test as a “coin flip with peek.” I would arrange the test with results sent only to me, telling the adoptive couple that I would flip a coin to determine if the report would be read or destroyed. Privately, I would peek at the result, revealing it if normal, destroying it if positive for future HD and telling the couple that the coin flip prevented disclosure. I felt that this strategy offered a 50% chance of successful adoption without labeling the child. Was it ethical?
The 2 children in this case presentation were each evaluated for short stature. What diagnoses are most likely? What confirmatory tests would you order? What are the usual complications associated with these conditions?
Neonatal signs and symptoms may complement testing for genetic susceptibility to autism spectrum disorders. A 4-fold increased risk of autism has been reported in infants who had hyperbilirubinemia after birth. This came after a follow up of a prior study that found a 2-fold increased risk of autism in infants transferred to a neonatal ICU after delivery. Hyperbilirubinemia and poor feeding may play a role in the development of subsequent autism in premature infants; in extremely premature infants the incidence of subsequent autism may be as high as 27%. If they do play a role, we could then speculate—as Professor Thomas Hale, expert on breastfeeding pharmacology at Texas Tech (www.ibreastfeeding.com), suggested to me—that something in breast milk may protect us from autism analogous to omega-fatty acid, which protects us from retinal problems.
A 6-year-old boy is referred to you by his school nurse because he tires easily and has poor concentration. His medical and family histories are unremarkable, and he has no signs of motor or speech delay. The parents are concerned that his pectus excavatum and flexible joints represent a medical condition and that his fatigue is limiting his activities.