Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Every story we pull is tagged to the disease it’s about — so you can filter to your condition and read only what matters.
Showing news related to
global birth prevalence of galactosemia and the role of neonatal screening a scoping review
Original title: “Global birth prevalence of galactosemia and the role of neonatal screening: A scoping review.”
Just days after her son was born, Julia Friar learned he had galactosemia, a rare genetic disorder that can be life-threatening. ROCK HILL, S.C. — Just days after her son was born, Julia Friar learned he had galactosemia, a rare genetic disorder that can be life-threatening. Three years later, the Rock Hill mother is channeling that fear into advocacy, working to raise awareness and funding for a cure. Three-year-old Asher is just like any other toddler. “It was terrifying,” said Julia Friar, his mother. ALSO READ: Local family of boy with rare disease raises awareness, spreads hope “I think about day 6 or 7 is when we started saying, ‘OK, he’s still really yellow,’” Julia Friar said. Asher showed symptoms of jaundice, which is a tell-tale sign of galactosemia, a very rare genetic disease. She explained how rare the disorder is for people. “We have about 15 patients from all of the Charlotte area,” Dempsey said. She has traveled across the country, spoke at conferences and with lawmakers to bring awareness and fundraising for all rare disease.
Original title: “Mother channels fear into advocacy after son’s rare disease diagnosis”