Amber’s Story

Mar 28, 2021

amber My rare journey:  Well, let’s start with not having a lot of answers from physicians and being on an emotional roller-coaster. I was 11 weeks old when I got the diagnosis of Hermansky-Pudlak Syndrome from my ophthalmologist Dr. Hurdle.

After a 28 day hospital admission, the ball went rolling with going to Overbook School for the Blind in Philly. Then, we found through NOAH in 1995 at one of their conferences Donna Appell who has been a life saver to our family for over two decades and so much more. Living a rare life is amazing because I get to show off my rarities along with finding new talents. Also, it means so much to me knowing that no isolation will be present. The Network is so inspirational and life-changing.

My life long journey all these years being in the network has been immeasurable. Growing up and being the youngest member brings back many many memories.