Young patient undergoes exome sequencing at UCLA Health to help solve medical mystery

LOS ANGELES - Imagine the frustration of having a rare condition that puzzles doctors. Experts conduct test after test, trying to find answers only to come up empty.

In an effort to solve those medical mysteries, doctors are now turning to the next generation of testing. 

Audrey Lapidus watches her son Calvin hit milestones that most children have accomplished months or even years earlier. 

But why? Multiple specialists and tests later, it was still a mystery. Until one day, Lapidus saw a doctor at UCLA Health. 

"Just, very fortuitously, as I was pushing for more testing, our geneticist said, 'If you can wait one more month, we're going to be launching this brand new test called the exome,” she said. 

Calvin was the first patient to undergo a type of genetic test known as exome sequencing.

"Sequencing is like doing a spell check on your genes and making sure that there are no mistakes or spelling mistakes that could be causing problems with your health,"  said Julian Martinez from UCLA Health. 

Diseases like Calvin’s are so rare, doctors have to rely on genetic testing to try and find clues to his condition.

In the past, those tests were done one gene at a time, which was expensive. However, this powerful technology allows doctors to analyze more than 20,000 genes at once and at a fraction of the cost. 

"You can sequence all of the protein-coding part of the genome for just a few thousand dollars, interpret it really powerfully and search across all 7,000 possible disease-causing genes in one test,” said Dr. Stanley Nelson from UCLA Health. 

Ladipus finally got her answer. Calvin was diagnosed with a rare condition known as Pitt-Hopkins syndrome finally bringing some sense of peace and a plan for the Ladipus family. 

Ladipus says the family can move forward with the diagnosis instead of lingering in the unknown, she said. 

Calvin got a head start on therapy, and is making strides, which seemed unlikely not long ago.

More than 4,000 adults and children have undergone exome testing at UCLA.

About 30 percent of their difficult cases are solved through this process, which is a dramatic improvement over past technologies.