Genetic testing, diagnosis of rare disease helps provide answers to Colorado Springs family

COLORADO SPRINGS, Colo. (KKTV) – A Colorado Springs family is sharing their story this Rare Diseases Day after genetic testing brought answers and closure to their family after a number of scary situations.

According to Jessica and Jeremy Mehring, their 4-year-old daughter Cassie has a condition called PPA2-related mitochondrial disease, a genetic mutation that impacts how Cassie’s cells produce energy and how that interacts with her heart. Genetic testing revealed the diagnosis after Cassie suffered a cardiac arrest at just two years old. At the time, her parents thought she was having a seizure.

“When the paramedics got here they were able to resuscitate her in the ambulance on the way to the hospital,” Jessica told 11 News, “and we were told then it was a cardiac arrest.”

The situation was especially scary to the Mehrings after they had a 19-month-old daughter named Scarlett who had died unexpectedly almost a decade earlier. After numerous additional tests on Cassie and a lack of answers, a genetic researcher suggested genetic testing.

The diagnosis not only provided the answer for Cassie’s condition, but it also gave them some closure surrounding Scarlett, who they say they believe had the same condition.

“The genetic test didn’t just give us the answer to what happened with Cassie…” Mehring said. “And not just the answer, but also, you know, what to watch out for to hopefully stop this from ever happening again.”

Some of the triggers the family said can cause a cardiac arrest in people with PPA2 are viral illnesses, ingesting alcohol or alcohol-related ingredients (like vanilla extract or vinegar), and a drop in blood sugar. According to her parents, Cassie had just gotten over a stomach bug and was dealing with a blood sugar drop from illness and issues eating due to the virus when she had her cardiac arrest.

Dr. Aaina Kochhar with Children’s Colorado’s Department of Genetics and Metabolism told 11 News that there can be many causes of concern that could point to signs of a rare disease or something that might require genetic testing to better understand.

“Anything that deviates from the trajectory of a child’s normal development for which there is no other good explanation, you know, might be suspicion for an underlying genetic condition,” Dr. Kochher said.

According to Dr. Kochher, PPA2 does not have a cure, but once diagnosed, it is more easy to manage. Cassie was given an ICD after diagnosis, which monitors her heart rhythm and can help restore it when there’s an irregularity.

Now, Cassie is “thriving” and attending preschool, something her parents said they were unsure would ever be able to happen due to the unexpected nature of her illness.

“Cassie is an incredible, incredible little girl.”

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