Ethan Bruns (left), a University of Utah biology student living with atypical hemolytic uremic syndrome, joined ARUP CEO Andy Theurer at a Rare Disease Day event in Salt Lake City on Tuesday, February 28, to raise awareness and highlight progress in the diagnosis and treatment of rare disease.
ARUP Laboratories is proud to be part of the community that is continuously working toward improved diagnosis and treatment of rare diseases that affect more than 25 million Americans, CEO Andy Theurer said in his closing remarks for a Rare Disease Day event held Tuesday, February 28, in Salt Lake City.
Addressing a group gathered at Recursion Pharmaceuticals Inc., Theurer said he was humbled to hear the inspiring stories of four young people who are either living with a rare disease or are advocates for a sibling with a rare disease.
“We have a community of some of the brightest minds in the world that are working on this, and it takes a village,” he said. “You are part of the village, helping us to understand why we get up and do this hard work every day. Thank you for what you’ve done for me today.”
Theurer and others in a packed room at the event heard stories such as that of 18-year-old Ethan Bruns, who was diagnosed with atypical hemolytic uremic syndrome when he was 8 years old. The disease causes blood clots to form in small blood vessels in the kidneys, which can lead to hemolytic anemia, thrombocytopenia, and even kidney failure, but it has not kept Bruns, who is currently in his second year studying biology and genetics at the University of Utah, from pursuing his dream to one day work to help develop gene therapies to treat rare diseases.
“I have a disease that’s genetic. It’s part of who I am,” he said. “I choose to own up to it and to appreciate that it has given me resilience and the ability to adapt and overcome challenges.”
Utah Gov. Spencer Cox declared February 28 Rare Disease Day in Utah, and the Salt Lake City event brought together the Rare and Undiagnosed Network, Aware of Angels, Global Genes, RARE-X, BioHive, Metrodora Institute, BioUtah, the U, and the Rare Disease Advisory Council, in addition to ARUP and Recursion, to raise awareness and highlight progress in the diagnosis and treatment of rare disease.
In his remarks, Theurer shared the story of Marzia Pasquali, PhD, FACMG, section chief of Biochemical Genetics at ARUP, and Nicola Longo, MD, PhD, a pediatrician and chief of the Medical Genetics division at University of Utah Health and a member of the Biochemical Genetics department at ARUP. The married couple are pioneers in the diagnosis and treatment of guanidinoacetate methyltransferase (GAMT) deficiency, a rare inherited disorder that can lead to severe cognitive impairment if not diagnosed and treated early.
Working with parent advocate Heidi Wallis, who has two children with the disorder, they were instrumental in getting GAMT deficiency added to Utah’s newborn screening panel. In January, GAMT deficiency also was added to the federal Recommended Uniform Screening Panel, a milestone that is expected to prompt many more states to screen newborns for the disorder.
“They persevere just as all of you persevere,” Theurer said.
Read more about their story here.
Lisa Carricaburu, email@example.com