{"id":278184,"date":"2025-04-15T15:29:40","date_gmt":"2025-04-15T19:29:40","guid":{"rendered":"https:\/\/rarediseases.org\/?p=278184"},"modified":"2025-12-02T16:49:08","modified_gmt":"2025-12-02T21:49:08","slug":"personalized-medicine-helps-treat-toddler-with-rare-disease","status":"publish","type":"post","link":"https:\/\/rarediseases.org\/es\/personalized-medicine-helps-treat-toddler-with-rare-disease\/","title":{"rendered":"Personalized medicine helps treat toddler with rare disease"},"content":{"rendered":"

Mila Makovec was only three years old when she began experiencing frequent seizures and losing her vision.\u00a0<\/span>\u00a0<\/span><\/p>\n

For any parent, having a child with health problems is a scary scenario. Mila\u2019s doctors in Colorado diagnosed her with Batten disease<\/a>, a rare neurological disorder that is often fatal in children.\u00a0\u00a0<\/span>\u00a0<\/span><\/p>\n

Further testing in Boston revealed that Mila\u2019s condition was the result of a rare mutation. Mila\u2019s doctor, Timothy Yu, thought that Mila\u2019s condition might be the result of a mutation hidden in her DNA. Together with his team, Yu designed a specialized treatment, milasen, just for her.\u00a0<\/span>\u00a0<\/span><\/p>\n

While milasen has not completely cured Mila, it has helped to treat her seizures. She went from experiencing 30 seizures per day to 10 or less. They are also shorter. They went from one-to-two minutes to just seconds each.\u00a0\u00a0<\/span>\u00a0<\/span><\/p>\n

Mila\u2019s story gives hope to thousands of other people with rare diseases. It shows what personalized medicine can do. Designing treatments for one specific person is both possible and it works.\u00a0\u00a0<\/span>\u00a0<\/span><\/p>\n

However, in order to advance personalized medicine, scientists and doctors need to hear from the rare disease community. Your experiences and your voice are critical to ongoing efforts to improve the care and treatments you or your loved ones receive \u2013 and we have an opportunity for you to be heard.<\/span>\u00a0<\/span><\/p>\n

Through the Living Rare Study<\/a>, the National Organization for Rare Disorders (NORD\u00ae<\/sup>) is working to gather information about everyday life with a rare disease, including how patients and caregivers navigate health care, daily life, and emotional wellbeing.\u00a0<\/span>\u00a0<\/span><\/p>\n

NORD will use the data and insights collected in the study to:\u00a0<\/span>\u00a0<\/span><\/p>\n