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 Better Cancer DetectionIn the United States alone, there are nearly 240,000 breast cancer diagnoses each year, and one in eight women will develop breast cancer at some point in her lifetime. To date, mammograms are the best diagnostic technology for breast cancer. A mammogram’s ability to detect tumors at early stages has made breast cancer one of the most treatable forms of cancer, but there are still almost 50,000 missed diagnoses every year.For many women, that missed diagnosis comes from having dense breast tissue which prohibits clear results from a basic mammogram. Notre Dame professor Ryan Roeder is working to reduce the number of missed diagnoses in dense breast tissue by using gold nanoparticles. The nanoparticles can be injected into the breast and attach to indicators of cancer, like microcalcifications. Because gold is a heavy metal, in an X-ray or mammogram it will be seen clearly, even in dense tissue.Roeder’s project is far from the finish line, but optimism in this fight against breast cancer is high. With luck, partnerships and persistence, the best way to think pink may involve thinking gold.
- 2:07Fighting to Protect the InnocentThrough collaboration with the National Immigrant Justice Center, Notre Dame law students are able to participate in an NIJC externship program allowing them to work on asylum cases of immigrants entering the United States.Law School alumnae Stephanie Torres and Christina Shakour took on the case of Maria and Ariel, immigrants from El Salvador seeking a safer life after receiving threats of violence from gangs. The team worked up to 30 hours a week on top of their course work to help the family in need. In total, they filed more than 300 pages of documentation to prove that the family qualified for asylum. After hours of preparation, Shakour and Torres presented the case before Immigration Court and obtained asylum for Maria and Ariel in the United States.*Because the well-being of Maria's daughters is still in jeopardy in El Salvador, and because gang retaliation could still occur in the U.S., actors were used in this What Would You Fight For video.*
