Rare conditions diagnosed with help of whole genome sequencing
POSTED: Saturday, September 1, 2012 - 12:00pm
UPDATED: Saturday, September 1, 2012 - 12:04pm
NBC NATIONAL NEWS — Siblings Alexis and Noah Beery have seen a huge change in their health after a getting a whole genome sequencing.
The twins had been diagnosed with cerebral palsy at age 2, but after medicine and treatment were not successful their mother, Retta, read about a condition called dopa-responsive dystonia, a movement disorder in which the patient reacts to dopamine.
Their condition improved at age 5 after new treatment.
Then in 2009, at age 12, their health deteriorated.
The twins began suffering from vomiting, seizures and difficulty breathing.
Alexis awoke one night struggling to breathe and used her cell phone to call her parents down the hall.
"If I didn't get my mom and dad's attention, I probably would be dead right now," she says.
Multiple trips to the emergency room followed, in which Alexis' skin would turn blue due to lack of oxygen.
Her fraternal twin brother, Noah, suffered as well.
"I would always worry about things like where the bathroom was because I would always throw up," Noah says.
Still, numerous trips to specialists yielded no answers.
"Nobody could figure out why, what was going on, why she was having trouble breathing," recalled Retta Beery.
After hearing about the possibilities of genetic sequencing for unknown illnesses, Retta and her husband Joe decided to test their children's DNA.
The sequencing confirmed the dopa-responsive dystonia, but revealed another problem.
"They also had a second issue, which was they were also deficient in serotonin," said Joe.
Serotonin is a hormone in the body that helps transmit nerve impulses.
Additional treatments of serotonin allowed Alexis to breathe freely.
Noah's nausea subsided.
Both experienced improvement in learning ability and coordination in movement.
Joe and Retta were overjoyed to see their children finally living healthy lives.
"Most profound was, wow, we've actually found the problem and my kids are going to be fine," said Joe.
Advancements in genetic testing to find solutions to rare diseases have proven successful in some cases.
Dr. Eric Topol, of the Scripps Translational Research Institute, says researchers need to see more cases like the Beerys'.
"One of the biggest issues is that we could find the mutation, the cause of the illness, but then we might not have a treatment," Topol says. "So in the case of the Beerys', it was perfect. They found the mutation, found the right drug, found the right dose of the drug. It might not always have such a happy ending."
Topol is part of research project called IDIOM at Scripps Health which seeks to use genome sequencing to help determine the causes of idiopathic disease, or rare conditions that are unresponsive to regular treatment.
Genetic testing is currently available to patients and can cost $5,000 to $20,000 or more, depending on how many family members are tested.
"There's another big part which is interpreting all that data. You have six billion data points and you run them about 40 times each, a fourth of a trillion data points for each individual that have to be sorted out," he explains.
Topol says research projects like his are popping up across the country that are doing it for free.
Alexis and Noah had their whole genome sequenced.
Their parents and older brother took a more focused test.
They discovered that Retta and Joe each had a genetic mutation which was combined in one gene in the twins and caused their health issues.
They also discovered that the twins' older brother did not have dystonia or a serotonin deficiency.
Retta said one patient who saw the story of the twins went from being wheel-chair bound to playing tennis in a short period of time.