Posted: 8:19 p.m. Thursday, Jan. 19, 2012
PALO ALTO, Calif. —
The 16-month-old Gonzalez twins nearly died from a rare medical condition but were saved by medical technology developed at Lucile Packard Children's Hospital.
The twins, Charlotte and Sophia, both have a rare genetic disease called monomelic amyotrophy, also known as MMA, that nearly killed them days after they were born.
Megan Antrim, the twins' mother, said they started losing a lot of weight a day after they were born. Ricky Gonzalez, the twins' father, said that because they were new parents, they were in denial that the twins looked sick.
Charlotte was especially lethargic and thin.
When the girls were five days old, a suspicious result from the state newborn genetic screening program revealed some kind of disease.
Their hospital rushed both girls to specialists at Lucile Packard.
"Had it been another day, and ya know, they might not have made it," Antrim said.
Doctors alerted the Stanford hospital laboratory that they needed to administer a test to determine the disease -- a test that normally takes about a week. But in about two-and-a-half hours they had the result unique to MMA.
"They become progressively lethargic, they go into a coma and unless they're treated quickly, they die," said Dr. Greg Enns, a Lucile Packard specialist.
Enns was able to stabilize the girls. When they were 14 months old, he proposed one of the first twin infant liver transplants for MMA.
"We listed them at the same time, so they got their livers very close to each other, and fortunately they both made it home for Christmas," Enns said.
Doctors said this disease is easily misdiagnosed as a common infection.
The girls still need careful monitoring of their metabolic balance -- a cold could be dangerous.
But because of newborn screening and quick decisions, they now have a shot at long lives.