October 29, 2024 \u00b7 5 min read<\/em><\/p>\n\n\n\n When Maria Fern\u00e1ndez was diagnosed with a rare metabolic disorder at age 34, doctors in her hometown of Valencia, Spain told her there were no treatment options. Today, she shares her story of perseverance.<\/p>\n\n\n\n “I visited 11 specialists over two years before anyone could tell me what was wrong,” Maria recalls. “The uncertainty was harder than the symptoms themselves.”<\/p>\n\n\n\n Her condition, affecting fewer than 1 in 50,000 people in Europe, causes progressive muscle weakness and fatigue. In 2019, Maria learned about an experimental treatment through a patient advocacy group in Barcelona.<\/p>\n\n\n\n She enrolled in our Phase II clinical trial in January 2020, becoming one of 89 participants across 7 countries. The study required monthly visits to Madrid\u2014a 350-kilometer journey each way\u2014for 18 months.<\/p>\n\n\n\n “By the sixth month, I noticed I could climb stairs again without stopping,” she says. “Small things that healthy people take for granted became celebrations.”<\/p>\n\n\n\n The treatment received conditional approval from the European Medicines Agency in March 2023. Maria now receives infusions every 8 weeks at her local hospital in Valencia and has returned to her work as a primary school teacher.<\/p>\n\n\n\n “I tell other patients: don’t give up. Research takes time, but there are people working every day to find answers. I am living proof.”<\/p>\n\n\n\n Demo Brand is committed to rare disease research, with 12 programs currently in development targeting conditions affecting fewer than 200,000 patients worldwide.<\/p>\n\n\n\n