Approximately one in 30,000 people worldwide will be diagnosed with neurofibromatosis type 2 (NF2) during their lifetime. This rare disease is caused by an abnormality in the NF2 gene, which leads to the formation of tumors throughout the nervous system. Over time, these tumors significantly impair the quality of life of those affected, as they can often result in hearing loss, severe balance problems, facial paralysis, blindness, and even death if they compress the brainstem. To date, there is no cure for NF2. Our mission is to stimulate and accelerate research into new therapies to find a treatment as soon as possible.
Patients with rare diseases face a harsh reality: the disease they suffer from competes for limited resources. One of the main challenges is that pharmaceutical companies prioritize research with quick returns. Yet, researchers must investigate the cause of the disease and need funding to carry out their work. Once diagnosed, patients are not on the path to a cure, but undergo treatments aimed solely at alleviating symptoms. For patients with NF2, the only options are limited to taking cancer drugs with often unbearable side effects, or undergoing invasive surgeries that damage nerves, as well as radiation therapy. There is no long-term solution, and patients and their families must become the key players in any progress.
