On December 3rd, the geneticist came to examine Rachaeli. He felt her abdomen, checked her tone, and reviewed our family histories. With caution and reserve, he discussed the possibility of a metabolic disorder, a family of diseases usually associated with the absence of one or more enzymes needed to metabolize cellular waste products. This diagnosis would portend a progressive and degenerative disorder. We were unprepared to look at our smiling baby and envision death.
The geneticist said an eye exam would yield more data, while we awaited the results of her blood tests. We returned to our medical texts, reading all we could about metabolic diseases. We learned that the presence of an area of retinal degeneration, known as a cherry-red spot, would indicate that fatty waste products were accumulating in the brain. This would all but confirm the diagnosis of a metabolic storage disease. At least we knew what to pray against. We did not sleep.