Over the next two years, Taylor Kane says her father lost his ability to walk, talk and swallow. 

"He went into a 5vegetative state and he passed away on 6hospice care when I was in kindergarten." 

At that young age, Kane also learned he was 7carrier of this rare 8X chromosome link 9recessive disease and says she has a 50% chance of 10passing it down to her future children. 

"My dad 11inherited the 12mutation from his mother and she inherited from her mother, and it goes on and on.

Kane says knowing she's a carrier has 13empowered her, allowing her to plan for the future. That's why genetic testing before pregnancy is so important, says Dr. Dallas Reed with myriad genetics. 

"It is a blood test or a 14saliva sample that can be ordered by a physician."

Reed says oftentimes carriers have no symptoms and no idea they have the condition; testing can change that. 

"It does allow couples to make decisions about how to build their family. Do they want to have children? Do they want to use something like 15in vitro fertilization or sperm or 16egg donation? Do they want to think about adoption? So really, doing the testing prior to pregnancy gives us the most information and the most options." 

"It's been 20 years since my dad passed away, which is crazy to say, but I feel like my 17advocacy for rare diseases is only just beginning."