"Kimberly is 33 years old and has idiopathic NBIA. She has been tested for every form of NBIA, had whole exome done multiple times, along with mitochondrial genetic testing and other tests to try and find the gene causing her disease. She may be the only one in the world with her form of NBIA - making her one of the rarest of the rare!
She was only 14 months old when she started showing symptoms and was diagnosed at the Mayo Clinic when she was 3. We were with hospice from 4 - 6 years old, but then we realized she was stronger than any doctors believed, and she has continued to hang in there through rough spots over the years and is very stable right now. The disease has taken away her ability to walk and talk, she has a g-tube, trach, and bipap machine at night to help her breathe, and she relies on others for all her needs. But she is happy and strong and mentally alert.
I feel blessed every day to have her in my life.