Colorado
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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Colorado
Colorado firefighters in grade mountain homes on wildfire survivability during training exercise
As wildfire concerns grow across Colorado’s mountains, firefighters in Summit County spent part of the week walking through a neighborhood and evaluating which homes they would be able to defend if a wildfire raced toward them.
Crews from Summit Fire & EMS and Red, White & Blue Fire Protection District worked together on a training exercise in Silverthorne, practicing everything from calling in additional resources to assessing homes for wildfire risk. The exercise centered around a reality firefighters face during major wildfires: they cannot save every structure.
“All of these homes potentially could be threatened,” said Steve Lipsher, community resource officer with Summit Fire & EMS. “So we want to spend our resources and our time and our energy in a place where we can actually make a difference.”
As firefighters moved from property to property, they completed what is known as structure triage, evaluating how defensible each home would be during a wildfire. The assessments look at factors such as defensible space, vegetation near structures, access to water, and other hazards that could make a home more difficult to protect.
“This is what we found at this home, this is how defensible it is from a fire, this is how we may be able to improve it,” Lipsher said. “Or in the worst-case scenario, this is a home that would take far too much effort and we cannot improve it in time.”
Some issues are simple to fix. During one assessment, Lipsher pointed out vegetation concerns near a home and noted that “this would be a real easy fix to dramatically improve the likelihood” of the home surviving a wildfire.
The training comes as Summit County enters the summer fire season under unusually dry conditions.
“Our soil moisture is nothing right now,” Lipsher said. “You can feel it.”
For homeowners Harold and Sherry Pearce, the wildfire threat was one of the realities they understood when purchasing a mountain home.
“The insurance rates reflect what we’ve realized is a threat commonly,” Harold Pearce said.
One challenge firefighters frequently encounter is convincing homeowners to make mitigation improvements that may change the look of their property.
“Sometimes it’s a case, ‘I bought a mountain home that I want to be a mountain home. I want it to be in the woods,’” Lipsher said. “Nobody moved to Colorado to live on a scalped lot — but there are definitely some things that we can do to make a home more likely to survive a wildfire.”
That challenge can be even greater with second homes, where owners may not be present year-round to monitor conditions or complete mitigation work.
Officials said the goal of exercises like this is not only to train firefighters, but also to help homeowners understand how small changes can dramatically improve a home’s chances during a wildfire. Summit County recently moved into a high fire danger classification, a reminder that despite recent rain, much of the moisture gained this spring has already dried out.
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