Indianapolis, IN
Indianapolis family shares importance of newborn screening after baby diagnosed with Pompe disease
Proper now, new child screening for Pompe illness is simply required in about 30 states, based on NewSTEPs.
CARMEL, Ind. — Each Thursday, 1-year-old Grant and his mother and father come to IU Well being North Hospital so he can obtain a five-hour enzyme alternative infusion.
It’s one thing they’ve been doing since he was about 4 weeks outdated.
“It’s sort of grow to be a part of our life and what we do each week,” mentioned Alison Breitbarth, Grant’s mother.
In February 2021, Grant’s new child screening was flagged after it confirmed indicators of childish onset Pompe illness, a uncommon genetic situation that may have an effect on the guts and muscle groups.
Breitbarth was barely dwelling from the hospital when she obtained the decision.
“The phrases have been fully international to me as she was saying Pompe on the telephone. I had no thought what she was speaking about,” Breitbarth mentioned. “It was so much to soak up and it was actually onerous for a number of months.”
On the time, it didn’t make sense since Grant wasn’t displaying any signs or appearing totally different.
“He appeared fully effective and fully wholesome. He was being your typical child,” she mentioned.
If the illness shouldn’t be detected early, it could result in dying or coronary heart failure throughout the first yr of life. Fortunately in Grant’s case, the new child screening noticed it earlier than any signs may develop.
The Breitbarth household additionally realized the situation may very well be handled and screens on Grant’s coronary heart appeared regular.
“[His heart] was fully regular, and I bear in mind the physician saying, ‘Depend this as a win. That is big.’ On the time, I had no concept that it was such an enormous deal,” Breitbarth mentioned.
Grant was the primary child in Indiana to be identified with Pompe illness by a new child screening.
The situation is detected by a heel stick, the place medical doctors take a pattern of blood from the newborn. It’s then despatched to a lab to be analyzed for greater than 50 uncommon, life-threatening genetic situations.
Proper now, new child screening for Pompe illness is simply required in about 30 states, based on NewSTEPs.
Simply seven months earlier than Grant was born, Indiana handed laws to begin screening infants for this situation. The invoice additionally added Hurler syndrome and Krabbe illness to the 49 different problems already on the screening panel.
It was impressed by Bryce Clausen, who was identified with Krabbe Illness as a child. Since he wasn’t examined early sufficient, he sadly died at 14 months outdated — simply days after the invoice was signed.
‘Bryce Clausen Room’ devoted at Peyton Manning Kids’s Hospital
Since then, two infants at IU Well being have been identified with “Childish Onset Pompe Illness,” together with Grant. They’ve additionally detected about 15 different infants with late onset Pompe illness.
“I give it some thought so much that if our 4-year-old had Pompe, we might’ve been severely impacted by it as a result of it was not on new child screening when he was born,” Breitbarth mentioned. “I really feel like infants shouldn’t need to get fortunate and stay someplace that screens for it. It ought to be one thing that’s executed for everyone.”
All through Grant’s journey, Katie Sapp has helped the household navigate questions and issues. She is an IU Well being genetic counselor who works particularly with youngsters which have metabolic situations — with most of them coming from new child screenings.
“My job is to sort of assist households acknowledge the place Pompe was and the place Pompe is now with new child screening and assist discipline all these questions that inevitably come,” Sapp mentioned.
She works with sufferers generally from beginning till later of their life and likewise advocate for his or her care.
“We speak by the signs, the genetics and inheritance of it, how we take a look at for it, coordinating genetic testing, explaining genetic take a look at outcomes after which speaking about long-term administration and prognosis,” she mentioned.
She mentioned there are two totally different types of Pompe illness. The primary one is “childish onset.” That’s when infants develop coronary heart points and important muscle weak spot. It may be handled to assist enhance injury to the guts however not the muscle.
There’s additionally “late onset,” the place somebody can develop signs throughout their first yr or throughout maturity. For this situation, folks normally don’t have coronary heart points.
“As soon as the signs begin, we’re primarily working from behind so we all know injury already occurred to muscle groups at that time and we are able to’t reverse that injury,” Sapp mentioned.
That’s why Sapp mentioned it’s so vital that new child screenings embrace Pompe illness so medical doctors can catch it early.
“Getting a new child screening analysis is totally life-changing. I might by no means attempt to reduce that for anybody, nevertheless it doesn’t need to be life limiting and that’s what our job is to work with households to stop severe problems of a new child screening analysis,” she mentioned.
For now, Grant will proceed to obtain a weekly infusion for the remainder of his life, however Sapp mentioned there’s plenty of analysis and growth on the horizon for the situation.
Within the meantime, Grant’s household is having fun with his energic persona as they try to take issues in the future at a time.
“You’d by no means know that he had Pompe except I advised you. He’s doing nice. He’s assembly all of his milestones. There isn’t something that he doesn’t like to climb,” Breitbarth mentioned. “He’s your typical, wild 1-year-old and we’re so grateful for that.”
Indianapolis, IN
Colts Reacts Survey: Week 17
The Horseshoe Faithful have spoken this holiday season, and only 24% of Indianapolis Colts fans believe that the franchise is headed in the right direction:
That is slightly up from 17% following the Colts’ home win last weekend against the lowly Tennessee Titans (3-12), but is well within the dregs of optimism. That being said, the Colts have gone 5-5 in their last 10 games, and their inability to beat any of the NFL’s better competition down the stretch this season will likely cost them a wild card playoff spot.
With the Los Angeles Chargers big road win at the New England Patriots on Saturday, the Colts have just a 9% now of making the playoffs.
In reality, their only win against the NFL’s better competition was at home against the Pittsburgh Steelers during Week 4. Otherwise, the Colts have beaten up against the league’s weaker competition, and also had a bad loss during Week 5 at Jacksonville.
Colts quarterback Anthony Richardson has already been ruled out for Sunday on the road against the New York Giants, meaning Indianapolis will turn to veteran Joe Flacco again.
Honestly, it feels like yet another lost season for Indianapolis, in an AFC South where the leading Houston Texans (9-7) haven’t been all that impressive for a consecutive season.
The Colts inability to capitalize in one of the league’s weakest divisions yet again is concerning, especially when it’s really been a ‘lost decade’ for the Colts collectively.
The Colts haven’t made the playoffs since 2020, and they haven’t won the AFC South since 2014, having the longest drought of any divisional team to do so.
Indianapolis, IN
Analyst Points Out Colts’ Glaring Issue
Despite the turbulence faced by the Indianapolis Colts on both sides of the ball this season, they’ve still found their way into the late playoff push with just two games left in the year.
However, while the Colts might be alive in the hunt, they’ll have to iron out a few issues within their recent displays which may inevitably make or break their chances for a playoff spot for the first time since the 2020 season– especially on the offensive side of the football.
As ESPN and Aaron Schatz rattled off the most concerning stat trends within the NFL’s playoff bubble teams, the Colts had one of the most interesting to note of the bunch, and possibly the most impactful on the list– their pass offense.
“Pass offense is a pretty big category, but the entire concept is a problem for the Colts,” Schatz said in his rationale. “Indianapolis ranks between 13th and 15th in DVOA for run offense, run defense, pass defense, and special teams. But the Colts rank 25th in pass offense DVOA. If they don’t make the playoffs this season, the blame falls on the passing game.”
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The passing attack for the Colts has been nothing short of up-and-down across the entire season.
A rough start for Anthony Richardson eventually led to veteran backup Joe Flacco getting a couple of starting reps in the middle of the season. Then, Richardson returned to QB1 two weeks later to take the reins. Now leading into this week vs. the New York Giants, the situation under center is up in the air again as Richardson is listed as questionable ahead of Sunday’s contest.
It’s been a whirlwind on the offensive side. Yet, regardless of who’s taking the snaps on Sunday vs. the Giants, the Colts must be more efficient in their passing attack. Richardson throwing under a 50.0% completion rate for the year is far from sustainable to keep putting wins on the board, even as an elite threat in the run game.
In fact, Schatz mentions that the Colts’ passing offense has seen a bit of a drop-off in production from their short time with Flacco under center.
“Things have been worse with Anthony Richardson at quarterback than they were with Joe Flacco,” Schatz continued. “Richardson has incredible rushing skills and is also good at avoiding sacks. The problem is throwing the football. Richardson ranks 32nd out of 33 qualifying quarterbacks in passing EPA, barely ahead of the Titans’ Will Levis. Richardson is ridiculously behind every other qualifying QB in completion percentage. He’s completing 48% of his passes this season, while every other quarterback is above 60%.”
It’s no secret that Richardson’s development has been a project since being drafted two years ago, but with a second-to-last EPA per play right ahead of a now-benched Will Levis, something has to change fast.
Thankfully, easy matchups for the next two weeks against the Giants and the Jacksonville Jaguars can make a simple path for Richardson to perform well if he suits up. The fourth overall pick of the 2023 draft has shown clear flashes of talent and ability to be the franchise guy during parts of his first two years in the league, yet the details need some fine-tuning.
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Indianapolis, IN
Indianapolis Colts Injury Report: QB Richardson, G Nelson And Four Others All QUESTIONABLE
The Indianapolis Colts today released their Friday injury report for Week 17 of the NFL season ahead of their Sunday game against the New York Giants.
Quarterback Anthony Richardson has been listed as QUESTIONABLE for Sundays game against the Giants due to back and foot injuries. Richardson has been unable to practice all week with what the team has described as “soreness”. It sure looks like it will be a very long shot for Richardson to play Sunday so expect to see Joe Flacco at quarterback this weekend.
Tight end Mo Alie-Cox has been listed as QUESTIONABLE for Sundays game against the Giants due to a toe injury. Alie-Cox has managed just one practice this week and looks to be another game time de vision. He did practice similarly last week and manage to play but it still looks unlikely he will manage to play. If he is unable to play expect to see Will Mallory active in his place.
Linebacker EJ Speed has been listed as QUESTIONABLE for Sundays game against the Giants due to a knee injury. Speed has only practice once this week and had to miss last weeks game due to the same knee injury. Speed looks like he will be a game time decision but leaning more to being unavailable this Sunday. If he is unable to play expect another week of Grant Stuard.
Guard Quenton Nelson has been listed as QUESTIONABLE for Sundays game against the Giants due to an ankle injury. Nelson has practice all week but has been limited the last two days. Nelson rarely misses game time so expect him to play this Sunday but if he cannot go then it could be rookie Dalton Tucker in his place.
Linebacker Jaylon Carlies has been listed as QUESTIONABLE for Sundays game against the Giants due to a shoulder injury. Carlies has managed to practice twice this week although only once as a full participant. Carlies looks like he may be able to play but if not then the Colts could be very thin at linebacker this week.
Cornerback Juju Brents has been listed as QUESTIONABLE for Sundays game against the Giants due to a knee injury. Brents has practiced all week in a bid to make his return from injured reserve. It appears he may be finally activated this week and return to game time this Sunday.
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