Emily Kargel is a 12-year-old Girl Scout and thrill seeker.
“She’ll do anything for a rush,” Emily’s mom, Kristy Kargel, said.
Emily, who uses a wheelchair, participates in “Out of the Chair,” an acrobatic class that gives people in wheelchairs the opportunity to “fly” while attached to bungees. She also recently started bi-skiing, a form of downhill skiing that involves sitting in a chair on a single ski to maneuver down a hill or mountain.
If these activities alone don’t suggest it, Emily does not lead an ordinary life. Besides participating in high thrill activities most people shy away from, Emily has a rare genetic mutation only recently diagnosed after years of unanswered questions and failed treatments. The genetic mutation found on her SCN2A gene affects her heart and brain and has caused severe epilepsy and seizures since birth. It has affected her life “in every single way.”
Emily has seizures throughout each day and requires medication to keep them under control. After trying more than 24 different seizure medications, all with disappointing results, and some with debilitating side effects, Emily and her mom needed a new approach to Emily’s treatment.
"After trying so many medications that didn’t work, our neurologist ordered a OneOme RightMed test to understand how Emily processes drugs and how her medications would interact with each other."
“After trying so many medications that didn’t work, in January 2017 our neurologist suggested Emily try a new orphan drug (a drug developed specifically to treat rare medical conditions). But before she prescribed it, she ordered the OneOme RightMed® comprehensive test to help her understand how Emily processes drugs and how her different medications would interact with each other.”
The RightMed test is a pharmacogenomic test — sometimes called a medication response test. Pharmacogenomic testing, unlike other genetic testing, is done for the sole purpose of predicting response to medication to help doctors prescribe the right medication and dosage for patients. Depending on a patient’s genes, he or she may break down a drug too slowly or too quickly, which could result in potential side effects, or no effect at all. The SCN2A gene (where Emily has a genetic mutation that causes her epilepsy) is not included on OneOme RightMed test. Instead, the RightMed test looks at many other genes that have been shown to impact a person’s response to hundreds of medications.
The concept of the pharmacogenomic testing wasn’t new to Kristy. All too familiar with the varied effects drugs can have on different people, Kristy had been following the progression of testing that looks at a person’s DNA to predict drug response, hoping that someday it could benefit her daughter. At last a pharmacogenomic test was here.
Once the neurologist ordered the RightMed test, Emily completed a simple cheek swab and returned the kit to OneOme.
“It was super easy,” Kristy commented on the process of collecting the sample and returning it to OneOme.
Within days, Emily’s neurologist received a personalized and interactive report from OneOme, unlocking information that would now serve as a valuable resource in Emily’s healthcare.
“It was fascinating to get the report back. It confirmed for us why so many medications hadn’t worked for her. It was like ‘well, duh, here’s the reason why they didn’t work! Her body does not metabolize them at the normal rate.’”
“It confirmed for us why so many medications hadn’t worked for Emily. The test really takes a lot of guesswork out of prescribing medications. It is so valuable.”
Based on the RightMed test results, Emily’s doctor plans to start her on the new prescription at a dose tailored to how Emily processes medications. Plus, the test results have already come in handy in other, unexpected ways.
“Emily recently had a colonoscopy and endoscopy, so I provided the report to her anesthesiologist. Her anesthesiologist used the report to tweak Emily’s anesthesia medications and dosages, all based on Emily’s DNA and the information in the RightMed test report. I think it really helped in making the procedures more comfortable for Emily.”
Kristy plans to bring the RightMed test results to her pediatrician to have them added to Emily’s electronic medical records so the results can provide years of prescription and dosage support to Emily’s doctors. Kristy is eager about what the report could provide Emily in the future.
“We’ve seen medications on the report that Emily hasn’t tried yet but that she has the potential to try. I’m not sure if they will be effective in treating her seizures or not, but at least we have an idea of how her body will metabolize them.”
When asked if Kristy would recommend the RightMed test to other families, she said, “Yes. I would totally recommend it, and especially for children with complex medical conditions. Clinical trials often guide recommendations on how physicians should prescribe medications. The problem is that so many clinical trials have only been conducted on adults, making it particularly difficult for doctors to know the right dosage to give children . . . The test really takes a lot of guesswork out of prescribing medications. It is so valuable.”