Profile

The purpose of this "blog" is to share resources I have personally found regarding rare types of Ehlers-Danlos Syndrome and/or rare pathogenic or uncertain significance variants. I want to clarify that I am NOT a medical professional nor am I a genetic counselor. I am simply someone that has knowledge on how to navigate and dig through medical information. I will never tell you if whether a variant is pathogenic or not, I will only provide statistical data that is freely available to me.

About Me:
I am currently a sophomore at university studying Liberal Arts and Sciences, with the hopes of applying for a masters program in genetic counseling when I graduate. Both my mother and I have hEDS and a clinical diagnosis of juvenile-onset Hypophosphatasia. I also have CCI, autonomic dysfunction, and a handful of autoimmune diseases including type one diabetes and severe arthritis. Outside of researching, I love playing animal crossing, watching TV, and reading. I hope that this "blog" can help you!