Latest news with #Children'sColorado
USA Today
17 hours ago
- Health
- USA Today
This 1-year-old desperately needed a new liver. Her dad saved her life.
Hear this story Ross Marsh's daughter was only 2-days old when he knew something was wrong. His baby girl, Mackenzie, had turned yellow with jaundice. When the jaundice didn't clear up, Mackenzie was referred to the Children's Hospital Colorado. A liver biopsy later confirmed her doctor's suspicion: Mackenzie had biliary atresia, a disorder that appears in only about one in 12,000 babies, according to Cleveland Clinic. Mackenize underwent a procedure for the condition, but it wasn't enough. She needed a new liver in order to survive. "It was scary. It was nerve wracking," says Marsh, who is a firefighter in Colorado − as is his wife, Jennah. "At least in my line of work, we see horrible (stuff) all the time happening to people. ... This is just our cross to bear." Luckily, Marsh came to Mackenzie's rescue. He discovered he was a donor match for Mackenzie and could give her part of his liver. Thanks to robotic technology, surgeons at UCHealth University of Colorado Hospital could perform the transplant with such great precision that Marsh was out of the hospital and back by then-8-month-old Mackenzie's bedside in two days. Need a break? Play the USA TODAY Daily Crossword Puzzle. "Eventually, she had her little smile back, and that was a big win for all of us," Marsh says. "Once we started to see her smile, we knew that things were getting better for her. She's just a smiley, happy little baby." Kids die waiting for liver transplants. This dad gave his baby daughter his own. Biliary atresia is a disease in which a baby's bile ducts become obstructed, meaning bile can't get out of the liver and into the intestine. Mackenzie first underwent a Kasai procedure to remove the blockage, but remained jaundiced and had trouble gaining weight. All in all, Marsh says his daughter spent about six months in and out of the hospital before her liver transplant. She needed a feeding tube through her nose due to malnutrition. "They put a central line into her bloodstream to deliver nutrition because her body just wasn't absorbing and processing it correctly," he says. "We ended up going in for a possible infection right before Christmas." Marsh and his wife had anticipated their daughter might need a new liver, so they got to work to make sure they were as healthy as possible, should they be donor matches. They didn't drink much to begin with but cut alcohol out entirely. They were already in good shape due to their jobs, but upped their workout regimens even more. "My wife and I both put in for the transplant," Marsh says. "And I was a positive match, just by luck." Many people need liver transplants, but people are often stuck waiting months for a potential match. The national average wait time for a liver transplant is about eight months. The average waitlist time at Children's Colorado for a pediatric liver transplant, thankfully, is shorter: less than two. One dad talked about the 'mental load': Then the backlash hit. Finding a donor fast can mean the difference between life and death. 'There are millions of healthy adults in the world who could be living donors, and yet, every year, about 40 children die across the United States, because no liver is available for them,' Dr. Amy Feldman, the medical director of Children's Hospital Colorado's liver transplant program, says. 'I dream of a world where living donor liver transplant prevents any child from dying on the waitlist.' Though Mackenzie's circumstances were grim, Marsh says he and his wife still found ways to stay grateful amid the challenges. Fellow firefighters stepped up to cover their shifts, so they could be with their daughter in the hospital. They also had insurance for the costly procedures, not something every family in similar straits can say. "When you live at the hospital for five, six months, there's terminally ill kids that are heartbreaking all (around you)," Marsh says. "So, we were able to rationalize: She can have a full, happy, healthy life once we get through this. And she's so young, she won't remember it." How he's celebrating Father's Day Now, Mackenzie is happy, healthy and rambunctious. She's been off her feeding tube since late April. Marsh calls in via Zoom from his home, where he says Mackenzie has been scooting around on the floor. "She's just McKenzie. She just likes to be a handful," he says. "Now, we're trying to figure out what normal life is for her. She's starting to not crawl yet, but she can scoot around, so she's just not such a little potato anymore. So now she's ending up underneath chairs and tables." Though they're out of the hospital, some signs of their family's medical saga linger. For instance, both Marsh and Mackenzie now have scars on their stomachs, right over their livers. "I think it's a pretty cool connection," he says. "We both have scars, and we'll be able to celebrate the anniversaries of the donation and make it, hopefully, exciting for her and not be a hindrance of like, 'Oh, I got this scary scar.'" Father's Day this year is also going to be different. Marsh says he has to spend it on duty − something he's used to as a firefighter. But, to him, holidays are the days you decide to celebrate them, not the days that come marked on the calendar. What health & wellness means for you: Sign up for USA TODAY's Keeping It Together newsletter Like so many other parents, Marsh says having a child has changed his outlook on life. "It's amazing how your perspective of what's important in life changes from before fatherhood till after fatherhood," he says. "I told Jennah before the surgery, 'If things go bad, make sure they get the liver. I don't care if I don't make it. She's number one. I'm number two.' Whether it's the surgery or just in life in general, to me she's more important."
Associated Press
28-01-2025
- Health
- Associated Press
Children's Hospital Colorado Delivers Precision Medicine to Kids
Orginally published on Illumina News Center Over the last 20 years, precision medicine has become the standard of care, but for many hospitals, the complexity of the process has made it challenging to integrate or manage efficiently and at scale. To be successful, health care organizations need to think about how to educate physicians and staff system-wide, how to manage large datasets, and how to deliver results in a consistent way. The clinical workflow must make sense for patients, physicians, and hospitals. Children's Hospital Colorado (Children's Colorado) was once in that position, balancing resources and refining processes in order to fully integrate precision medicine. 'We wanted to approach it from a holistic point of view and not that one specialty would be precision medicine and everything else would be just medicine,' says Alisa Gaskell, PhD, scientific director of the Precision Medicine Institute at Children's Colorado. 'We stood up three pillars—diagnostics, therapeutics, and education—to create a cohesive, institutional-level vision.' Integrating genomic diagnostics into day-to-day care Children's Colorado formally took on the challenge in July 2023, when it established the Precision Medicine Institute, cofounded by Gaskell; Scott Demarest, MD, medical director; and Gregor Stoddard, administrative director. The institute delivers whole-genome sequencing data to clinical settings, conducts research, and generally leverages genomics to improve care. 'We create systems that help clinical groups maximize their ability to implement genomic testing,' Demarest says. 'We want them to feel confident they are delivering accurate diagnoses, based on the testing, and can confidently act on those diagnoses.' The precision medicine team realized early on that the hospital's electronic health record (EHR) system would be the best conduit to ensure that genetic information is easily accessed, clinically relevant, and fully responsive to the most current genomic research. The first step in institutionalizing genomics is to ensure that the results are stored as discrete entries within the EHR. At Children's Colorado, the clinical genomics laboratory accomplished this in 2020. Having made genomic results searchable, the precision medicine team was well positioned to bring that data closer to clinical practice. Now, if a provider is making decisions that could benefit from genomic data, the system scans for relevant results. If it finds them, it shares those insights. If not, it recommends a genomic test. 'Integrating that information in a more sophisticated way has been key to ensuring patients and physicians have the right information at the right time to make the right decisions,' Demarest says. One early success has been in pharmacogenomics, which measures how genetics influence a patient's responses to specific drugs. Timely information can help physicians make the most appropriate choices. 'It prompts them, saying their drug or dosing choice may be influenced by a pharmacogenomic result, and here are the guidelines to make that adjustment,' Demarest says. 'We're building it into the workflow to make it as easy as possible for physicians to implement.' Genomic knowledge is constantly growing, and the system is designed to keep up. In the case of pharmacogenomics, new research may show that a certain gene variation makes a medication dangerous for some people. A patient's sequencing data may be two years old, but the EHR now synthesizes the existing data with the new research. If a physician tries to order that medication, the prescription will be flagged. 'If we build something that's only attuned to today's level of knowledge, it's going to age very quickly,' Gaskell says. 'If a provider is choosing a blood medication, today there may be four different drugs and two genotypes that influence the decision. A year from now, there may be six drugs and 10 genotypes. Because we're capturing whole-genome data that's dynamically linked to our EHR, we can make real-time adjustments by just pushing a button.' This dynamic connectivity between the EHR and large genomic data extends beyond pharmacogenomics. Considering that their hospital is dedicated entirely to children, the precision medicine team has a grand vision of delivering usable and dynamic information across the system of care. 'While pharmacogenomics is a great example of how genomics can impact a health care system, the same approach can deliver life-changing information in the rare disease and cancer spaces, leveraging system builds to support access to testing and actionability,' Gaskell says. The feedback loop One of the Precision Medicine Institute's most important missions is education—increasing each provider's genomic intelligence quotient. To keep that knowledge flowing, the Precision Medicine Institute has created a clinical liaison committee, which includes 20 clinical areas and meets monthly to discuss the best ways to implement precision medicine. 'When we're developing pharmacogenomics and other programs, it helps us understand whether we're getting the details right,' Demarest says. 'That helps us get the big picture to make sure we're delivering programs that benefit providers and improve care.' Illumina's role from the start Illumina has been partnering with the Children's Colorado genomics team for around seven years, long before the Precision Medicine Institute was established. 'Illumina and our teams have been committed to seeing our hospital take on clinical genomics,' Gaskell says. 'We've leveraged our team's know-how with Illumina's products to get to that excellent clinical implementation.' The Precision Medicine Institute has integrated a suite of Illumina products to manage their data pipeline. Clarity LIMS tracks samples and helps manage the genomics workflows. Illumina Connected Analytics helps analyze and query large datasets. DRAGEN provides data analysis, and Emedgene automates interpretation and research. In turn, the Children's Colorado team developed a custom application programming interface to coordinate the hardware and software. The Precision Medicine Institute has three Illumina sequencers—two NovaSeq 6000 Systems and one NovaSeq X Plus System—and the data pipeline has been fully integrated. This is particularly useful in complex cases, such as rare diseases, in which patients and their parents are all sequenced. This has been a collaborative project from the start. Illumina shared the applications' underlying code so Children's Colorado could knit them together and scale them for its incredibly high volume—around 450 datasets a month. 'We developed an operational dashboard to integrate all the data,' Gaskell says. 'That means I can see where a sample is with just one click. If there's a question about family samples, it takes me less than a minute to answer it. That's really the goal: take complex data and make it easy to understand and actionable. Putting everything together, we give our researchers and clinicians better tools to succeed.'
