Karen is 11 years old. She was born in Mountain View California and now lives in Israel with her parents and her 3 sisters. She loves horseback riding and hip-hop dance. She speaks 3 languages, English, Hebrew and French, and she is learning sign language with our whole family.
Karen was diagnosed with NF2 when she was 6 years old after her first MRI. We suspected a possible Nf2 mutation due to some skin bumps and juvenile cataracts, but we were still devastated when we received the diagnosis.
We went to see the top NF2 doctors at MGH in Boston, as well as in Paris and Tel Aviv. So far, no effective treatments have been discovered. She undergoes MRIs and hearing tests every 6 months. She is now at an age where she is starting to understand that she has a very difficult condition and a long road ahead.
Thankfully her tumors (brain and spine) are not cancerous but they will continue to grow and damage nerves. She has already had 2 eyes surgeries in the same eye to remove juvenile cataracts caused by NF2.
On September 20, 2018, she had her first brain surgery in Paris to remove a tumor on her right vestibular nerve that has grown a lot over the 2 last year. Professor Kalamarides successfully removed it and she kept her hearing, facial nerve, but she lost her right vestibular nerve (balance). She manages well without it. She also has another small tumor growing on her right facial nerve, it is too risky to remove it, we hope it won’t grow. She has another fast growing vestibular schwannoma on the left side. We will need to decide what to do with it soon. And she has many small ones on the 5th cranial nerve and few in the spine that we are monitoring.
Karen is currently looking at a lifetime of chemotherapy and surgeries that will injure her nerves. These approaches for battling NF2 will only temporarily postpone the growth of her tumors and come with multiple side effects.
We are very hopeful about the potential of gene therapy and the chance of a cure for NF2 so our Karen can have the future she deserves.