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.”
Copyright 2024 KKTV. All rights reserved.
Colorado
Dog reunites with owner after 43 days lost in the mountains
Dog survives 43 days in Colorado mountains and reunites with owner
After 43 days lost in the Colorado mountains, a Ring camera helps volunteers find and reunite 10-year-old dog, Rocky, with his owners.
A dog named Rocky was rescued and reunited with his owner after surviving 43 days alone in Summit County, Colorado.
Rocky, age 10, had gone missing in late December after escaping from a pet sitter while his owner was traveling.
According to local media, volunteers from Summit Lost Pet Rescue and members of the local community helped search for the dog for weeks, eventually locating and capturing him using a tip from a homeowner who spotted the dog on her Ring camera and a trap set with the owner’s scent.
According to Summit Daily, Rocky had gone from 50 pounds to 28 pounds during the time he was lost.
Video posted by Summit Lost Pet Rescue shows the heartwarming moment Rocky is reunited with his owner, Steven Maa.
“It takes partnership, a village, and donations to save lost pets,” the organization wrote on social media.
Colorado
Greer, Wooten combine for 20, Colorado women advance in Big 12 Tournament with 55-48 win over Kansas
KANSAS CITY, Mo. — Logyn Greer and Desiree Wooten both scored 10 points in No. 6 seed Colorado’s 55-48 win over No. 11 seed Kansas on Thursday night to advance to the quarterfinals of the Big 12 Conference Tournament.
Greer shot 4 for 7 from the field and drained both her attempts from 3-point range from the Buffaloes (21-10). She had six rebounds and four blocks. Wooten added four assists.
Colorado was in foul trouble early, racking up seven fouls in the first quarter. A 9-0 run in the second quarter broke the game open for the Buffaloes and they entered halftime up 26-18. Their defense held Kansas to 36% (19 of 53) from the field and 15% (2 of 13) from 3-point range.
Kansas (19-13) was led in scoring by S’Mya Nichols, who put up 14. Her and Sania Copeland scored the only 3-pointers for the Jayhawks.
Colorado: Will play No. 3 seed Baylor on Friday. The Lady Bears are ranked No. 20 in the country.
Kansas: Will wait for an invitation into a postseason tournament.
___ Get poll alerts and updates on the AP Top 25 throughout the season. Sign up here. AP women’s college basketball: https://apnews.com/hub/ap-top-25-womens-college-basketball-poll and https://apnews.com/hub/womens-college-basketball
Colorado
Deen: Avalanche Solve Roster Needs. What’s Next? | Colorado Hockey Now
The trade deadline is less than 24 hours away and the Avalanche have already made the three moves that had been clear-cuts needs for the team.
They needed to improve their third pair. They did that by swapping Samuel Girard for Brett Kulak.
They needed to replace the recently departed Ilya Solovyov with a more capable No. 7 option on the blueline. That was accomplished with Wednesday’s trade for Nick Blankenburg.
Most importantly, the Avs needed a third-line center. On Thursday, they paid a hefty price to acquire Nicolas Roy from the Toronto Maple Leafs.
These are all things that had to be done. Now? They have nearly $7 million in available cap space (with Logan O’Connor on LTIR), with an opportunity to improve on the roster they have. This is the part of the trade deadline where general manager Chris MacFarland can bolster the team, find those luxury additions, and maximize his team’s chances and winning a Stanley Cup.
So what could that look like?
Most of the season has seen Ross Colton, Victor Olofsson, and even Gavin Brindley occupy the wings on the third line. With Roy expected to settle into that 3C role, there’s an opportunity to build on the wing. Elliotte Friedman mentioned last week that the Avs could move on from Colton. If so, that would give them a lot more cap space and a valuable asset they can use on the trade market to bring in a solid middle-six winger. Perhaps someone like Blake Coleman.
Olofsson has chemistry with Roy dating back to last season with Vegas, but you have to wonder if they’d be looking to upgrade on his position, too.
That leaves Jack Drury on the fourth line, centering Parker Kelly and Joel Kiviranta. Brindley slots down to the No. 13 forward (when everyone is healthy), while Zakhar Bardakov is the 14th option.
If O’Connor returns before the postseason, he instantly rejoins the fourth line. That would push Kiviranta out, and he’d be the 13th forward just like he was last year. Even in that scenario, I do wonder if the Avs decide to improve on Bardakov. He’s a young centerman who has impressed in limited minutes but has struggled to gain the full trust of the coaching staff.
There’s also the option to add another depth defenseman. Right now, an injury to Kulak or Devon Toews would again force Colorado to have five right-shot defensemen in the lineup. Blankenburg, who also shoots right, would be an ideal fill-in if an injury were to strike on the right side.
But what about another depth option? Colorado won the Cup in 2022 with both Ryan Murray and Jack Johnson on the outside looking in. After Girard’s injury, Johnson stepped in. But it didnd’t hurt to have multiple depth options just in case.
Could the Avs target another depth blueliner? If so, will they go for a bigger body? I’ve seen the name Urho Vaakanainen floated around. He would be the type of left-shot defenseman who could fill that role as an extra. Albeit his $1.55 million cap hit might be too large to take on without retention for such a limited role.
-
World1 week agoExclusive: DeepSeek withholds latest AI model from US chipmakers including Nvidia, sources say
-
Wisconsin5 days agoSetting sail on iceboats across a frozen lake in Wisconsin
-
Massachusetts4 days agoMassachusetts man awaits word from family in Iran after attacks
-
Massachusetts1 week agoMother and daughter injured in Taunton house explosion
-
Maryland6 days agoAM showers Sunday in Maryland
-
Florida6 days agoFlorida man rescued after being stuck in shoulder-deep mud for days
-
Denver, CO1 week ago10 acres charred, 5 injured in Thornton grass fire, evacuation orders lifted
-
Oregon1 week ago2026 OSAA Oregon Wrestling State Championship Results And Brackets – FloWrestling