NEW YORK (CBSNewYork) — Imagine the frustration of having a child with a rare condition and doctors can’t figure out what’s wrong.
Some patients spend years waiting for the right diagnosis.
As CBS2’s Dr. Max Gomez reported, high-tech DNA testing is helping doctors solve and treat those medical mysteries.
Deep down, Audrey Lapidus knew something was wrong. As a baby, her son Calvin wasn’t reaching normal milestones like rolling over or crawling.
Four specialists and a battery of test later, it was still a mystery until one day, she saw a doctor at UCLA Health who offered a glimmer of hope.
“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’,”Lapidus said.
With that, Calvin was the first patient to undergo a type of genetic test known as exome sequencing.
Diseases like Calvin’s are so rare, doctors have to rely on genetic testing to try to find clues to his condition.
In the past, those tests were done one gene at a time, which was expensive, but this powerful next-generation technology allows doctors to analyze more than 20,000 genes at once at a fraction of the cost.
“Oftentimes we’re now turning to exome sequencing — sequencing every single protein-coding gene in one fell swoop — as the go-to diagnostic test,” Dr. Stanley Nelson from UCLA Health said.
“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,” Dr. Julian Martinez from UCLA Health said.
Soon after exome sequencing, which only requires a blood sample from the patient, Calvin was diagnosed with a rare condition known as Pitt-Hopkins syndrome.
“The diagnosis gave us a point to move forward from rather than that really scary no-man’s land of not knowing,” Lapidus said.
Armed with that information, Calvin got a head start on therapy and is now making strides that seemed unlikely not long ago.
With this technology, doctors can search 7,000 disease-causing genes for a few thousand dollars — which could lead to finding the genetic changes in diseases ranging from autism to cancer.
This genetic testing also means early diagnosis and treatment which could mean better outcomes for kids with rare diseases.