Autumn was born with a rare metabolic disorder called Argininosuccinic acidemia, and lived with the disease, which causes a toxic buildup of ammonia in the blood, for 22 months before it was detected by doctors at UCLA. (Routine newborn screening failed to pick up the mutation.) Since the end of October, she has been on a special diet that reduces ammonia in her bloodstream, but she is expected to have some continued developmental delays, which could include learning disabilities or motor difficulties.
Dorrani was there when Vo and Le underwent genetic testing that showed that any child they might have has a 25% chance of having ASA (and when they got the good news that their second child, a 1-year-old boy, does not carry the gene.) Now that the genetic testing phase is over for the Le family, Dorrani is helping them move ahead with life — in large part, by making sure they stick with Autumn's strict diet. She put together an "emergency letter" for Vo and Le to show to doctors should Autumn need treatment at another hospital.
The parents say that they call Dorrani whenever they have a medical question about the toddler's treatment, anytime, day or night.
"They'll ask, 'She's lethargic today, she's not eating — what do we do?'" Dorrani says. "It's very concrete."
Around the corner, another family has come to the UCLA clinic because they suspect their young son has a mild form of autism, and they hope to learn whether there's a genetic cause.
Some days earlier, a middle-aged mother of 4, who had just found out her birth mother had Huntington's disease, came in to see if she carried the gene for the fatal brain disease as well. If she does, she will get sick, and the condition is not reversible.
Sometimes patients facing serious genetic illnesses — including Huntington's, early-onset familial Alzheimer's and others — decide after counseling that they'd rather not find out what lurks in their genes. "It's not a choice everyone makes," says Pamela Flodman, director for UC Irvine's genetic counseling program. Genetic counselors talk through all possible results, urging clients to explore how they might react in each case. "They help the client work through the issues ahead of time [to] make an informed decision about testing," Flodman says.
People considering prenatal testing sometimes opt out too, she adds. A couple might choose against an amniocentesis if they know that the results would not change their decision about having a child. Other parents choose to go ahead with prenatal testing in order to be better prepared when the child is born, or to get reassurance during pregnancy if the results are normal.
Hearing bad news is hard, but can be empowering for patients and their families, genetic counselors say. "Sometimes just knowing why [a child is sick] is really helpful. A sense of control is really important for parents," says Cathy Wicklund, director of the graduate program in genetic counseling at Northwestern University in Chicago.
As the workday comes to a close, Fox wraps up things with Spear, Hanberg and EmmaRose. She asks the couple, who are separated, about plans to have more kids. Neither has any — "We're focused on loving her," Spear says of EmmaRose. They talk through plans for tests, insurance concerns, communicating with doctors closer to home. Fox advises Spear to always ask for the best phlebotomists to draw EmmaRose's blood.
Then she tells the family that she'll see them again soon.