Living with Rare Disease: Maria’s Journey from Diagnosis to Hope

October 29, 2024 · 5 min read

When Maria Fernández 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.

«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.»

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.

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—a 350-kilometer journey each way—for 18 months.

«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.»

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.

«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.»

Demo Brand is committed to rare disease research, with 12 programs currently in development targeting conditions affecting fewer than 200,000 patients worldwide.