Hannah's pediatrician made a referral to pediatric neurologist Dr. Timothy Foster. Hannah also saw Dr. Darius Adams, a pediatric geneticist. After tons of testing, results still came back normal. Yet, Hannah had no reflex response from the knee down. Dr. Foster knew she had some type of peripheral neuropathy.

"He went and got this huge textbook and brought it in the room and flipped to the neuropathy section and started turning pages," Lori said.

He stopped at a picture of a skinny boy with kinky hair and AFO braces just below the knee. The boy had giant axonal neuropathy (GAN). Though Foster thought this was Hannah's condition, he referred the Sameses to Columbia Presbyterian Children's Hospital in New York City. Foster's diagnosis was confirmed by a nerve biopsy.

ORPHAN DISEASE

GAN. What is it? Why? How?

"We knew it wasn't good," Lori said. "We had no idea. We didn't know how grim a diagnosis this was until we met with our local geneticist and genetic counselor three days later. There are no treatments, no cure, no clinical trials, very little funding and no ongoing research for this disease. It's considered an orphan disease. It doesn't impact enough people to gain national attention. However, that doesn't make it insignificant."

GAN is present in the population of every country, though its actually incidence is unknown because of misdiagnosis. Often, orthopedic surgeons perform unnecessary and counterproductive procedures on the ankles and arches of people with GAN.

Lori and Matt were both carriers of the disease and didn't know it, each passing a mutated recessive gene on Hannah's 16th chromosome. There was a 25 percent chance that their offspring would be born with GAN. There is a two in three chance that Hannah's older sisters, Madison and Reagan, are carriers.

"It's still unfathomable to me that my child has a terminal illness for which Western medicine has nothing for her," Lori said. "It was amazing to me that we, all healthy humans, carry four to five mutated, recessive genes. The disease surfaces when you marry someone that has the same mutated gene. All the million of genes we have, talk about bad luck. Drawing the short straw."

HANNAH'S HOPE FUND

Matt compared it to a reverse lottery. Really crazy. A total nightmare.

For three days after the diagnosis, he couldn't get out of bed. He barely got through the day.

But then, he said, "I realized someone had to be the first to be cured, and why not Hannah? We realized very quickly no one was going to help us. We had to help ourselves."

"We have to work full-time to try to save her life overnight," Lori said. "She has a lot of good years left before it starts to hit her central nervous system. We have time."

Inspired by the example of Jim and Jill Kelly and their families, who established Hunter's Hope Organization for Krabbe Disease, the Sameses' family and friends mobilized to create Hannah's Hope Fund.