Mila Makovec was only three years old when she began experiencing frequent seizures and losing her vision.
For any parent, having a child with health problems is a scary scenario. Mila’s doctors in Colorado diagnosed her with Batten disease, a rare neurological disorder that is often fatal in children.
Further testing in Boston revealed that Mila’s condition was the result of a rare mutation. Mila’s doctor, Timothy Yu, thought that Mila’s 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.
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.
Mila’s 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.
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 – and we have an opportunity for you to be heard.
Through the Living Rare Study, the National Organization for Rare Disorders (NORD®) 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.
NORD will use the data and insights collected in the study to:
- Inform the development and evolution of NORD programming
- Elevate research on the non-clinical impacts of rare disease
- Transform lived experiences into facts that will illustrate the impact of rare disease for lawmakers
Beyond your experiences, your rare health data can drive the development of new treatments. NORD is proud to partner with the National Institutes of Health (NIH) to support the
Together, these studies will not only help scientists and doctors gain a fuller understanding of what it’s like to live with, or care for someone with, a rare disease, but, most importantly, they’ll help us all to innovate new solutions and treatments for you or your loved one living with a rare disease.
We hope that one day stories like Mila’s will not sound so extraordinary. Will you help health research reach its full potential?
Click the links below to learn more about NORD’s Living Rare Study and the