Fighting for the Lives of Children
When your child is diagnosed with a rare, genetic disease, it feels like you’re rolling down a mountain, just waiting to hit rock bottom, says Doug Berns. When his daughter, Samantha, was diagnosed with Niemann-Pick Type C, an incurable, neurodegenerative disorder, he and his wife watched as Samantha’s energy depleted, her balance became shaky, and her laughter quieted.At Notre Dame, researchers in the Boler-Parseghian Center for Rare and Neglected Diseases seek to identify and advance treatments for a number of rare diseases, including Niemann-Pick Type C.For more information: http://ntrda.me/LivesofChildren
More from What Would You Fight For?
- 2:01Fighting for our Military CommunityDuring Jayme Hentig’s career as an Army medic, he was comfortable caring for others every day. But in 2010, he went from caregiver to patient after an accident sent his armored vehicle into a rollover. As he grappled with a traumatic brain injury and struggled to regain his cognitive abilities, doctors eventually told him there were no more therapeutic options. But Jayme was undeterred and decided if there were no existing options, he would create them.After earning his undergraduate degree, Jayme came to Notre Dame to pursue a doctorate in biology. Working with zebrafish, he was able to better understand how and why brain cells regenerate. After graduation he will continue to study traumatic brain injuries in active-duty service members and veterans as a postdoctoral fellow at the National Institutes of Health.Learn more: https://go.nd.edu/MilitaryCommunityFF
- 2:01Fighting for the Dignity of IndependenceIn 2014, Shawn Sexton ’88 was diagnosed with bulbar onset sporadic ALS. Realizing he would gradually lose his ability to walk, communicate and eat, he and his son, John, set out to create opportunities for independence. Together they designed EyeDrive, an assistive technology that allows Shawn to adjust and drive his wheelchair using eye gaze technology. EyeDrive is one of three current solutions provided by John’s startup, LifeDrive, which also provides voice- and caregiver-controlled solutions.John is now a senior at Notre Dame and a participant in the Grand Challenges Scholars Program, which, along with the IDEA Center, has helped move LifeDrive from an at-home project to an expanded medical device company. John continues to lead its progress to commercialization and distribution, and he hopes it will soon help other patients like his dad find more independence.“To try and get this to patients by the time that we graduate is daunting and challenging, but it pales in comparison to the needs of those patients that we’re trying to serve,” John says. He explains that getting LifeDrive to patients is so important because not only does it give them technology and independence, but it gives them hope. That hope, he says, can be life-giving.Learn more: https://go.nd.edu/DignityOfIndependenceFF
- 2:01Fighting Infectious Disease at its SourceSecond only to malaria as the most devastating parasitic disease in the world, schistosomiasis annually infects 200 million people and claims 200,000 lives. Another 800 million people are at risk, predominantly across Africa, eastern Latin America and southeast Asia. While there are existing cures, reinfection rates are very high.Jason Rohr, the Ludmilla F., Stephen J. and Robert T. Galla College Professor of Biological Sciences and chair of the biology department, works in more than 20 Senegalese villages alongside local partners such as Espoir Pour La Santé (EPLS) and Station d’Innovation Aquacole to address issues related to schistosomiasis.The infection is caused by a parasite that resides on snails, which live in weedy rivers and lakes where people drink, bathe, and launder. Rohr realized the number of parasites would decrease if the number of snails decreased, which could be achieved if the weeds decreased. Working alongside local partners in St. Louis, Senegal, they started weeding the water. Immediately, disease reinfection rates fell. What’s more, the villagers used the weeds to feed livestock and as compost fertilizer to increase food production. This became an added incentive for the community to remove the vegetation. A simple solution helped solve problems in disease, energy, and food scarcity.Learn more: https://go.nd.edu/InfectiousDiseaseWWYFF
- 2:01Fighting For Research That MattersPOTS, postural orthostatic tachycardia syndrome, is an autonomic nervous system disorder that affects blood flow in between 1 million and 3 million Americans, typically women and young adults. Those numbers are growing as POTS and other forms of dysautonomia have been diagnosed as long-term impacts from COVID-19. The symptoms include fainting spells, seizures, respiratory issues and digestive trouble.Nina Kikel-Coury, a graduate student in Professor Cody Smith's lab, suffers from POTS which placed her at a higher risk during the COVID-19 pandemic. She needed to remain completely isolated during the pandemic and could no longer work alongside others in her research lab. But the team rallied around her.Her lab mates designated hours when Nina could work alone, and they continued her experiments when she couldn’t be present sending results via email or FaceTime. With all this support, Nina made a scientific breakthrough, discovering a new cell in the heart—cardiac nexus glia—which may help explain and treat conditions like hers.“Identifying cardiac nexus glia could have a huge impact, not only with the neuroscience field but also the cardiovascular field,” she says. “Currently no one knows why dysautonomia occurs in a lot of people. And so personally it’s really exciting to know that maybe we’re just one step closer to figuring out the cause of dysautonomia, and in particular, long term down the road maybe even POTS.”Read more: https://go.nd.edu/ResearchThatMattersWWYFF
- 2:01Fighting to Control DiabetesFor parents of a child with Type 1 diabetes, stress is relentless. There’s a constant need to monitor blood sugar levels, and that need doesn’t stop once the child goes to sleep.Professor Matt Webber ’06 was inspired when a colleague mentioned she and her husband slept in shifts while the other monitored their diabetic child through the night. Since then, he has been devising material technologies that could be easily applied on or beneath the skin before bedtime. If blood sugar drops, the material automatically releases medication to stabilize levels. While distribution is still years away, Professor Webber hopes that in the future, his work will help take some of the burden off worried parents and serve as an extra measure of safety for millions with Type 1 diabetes worldwide.Read more: https://go.nd.edu/DiabetesWWYFF
- 2:01Fighting to Reach the Next Frontier in SpaceBack in the 1960s, the Apollo missions to the moon ushered in awe and wonder as astronauts seemed to push the boundaries of human capability. This spring, when NASA astronauts took flight with SpaceX, many of us tuned in once again to witness the possibilities of imagination and ingenuity. Space provides endless opportunities for exploration, from Mars to long-term living on the moon but there are risks to such endeavors, chief among them radiation. Physics professor Jay LaVerne is working with a team to redesign the Apollo-era-style space suits still worn by astronauts to make them safer, less cumbersome, and more capable.