MILLEDGEVILLE, Georgia (41NBC/WMGT) - 16 month old Riley Robbins has Niemann-Pick Type A. It's severe neurological disease that leads to death between the ages of two and four. There's no cure for the disease. Right now, there's only four other known cases of Type A in the U.S.
"The disease took the ability of him saying 'mama and dada' away. He can't even talk," says mom Lori Robbins.
She's watching her son quickly deteriorate. There's less than 1200 cases worldwide. It's so rare, that data surrounding how many people are carriers is unknown. In order for a baby to have the disease, both parents need to be carriers.
It's not the first time Lori's seen the debilitating effects of Niemann-Pick. "I was 8 and a half months pregnant when my little girl passed away."
Her four year old son Christopher is only a carrier. After his birth, Lori and her husband Chris decided to stop having children. A couple of years later, they got an unexpected surprise.
"I didn't know what to do really because I tried not to get pregnant because of what would happen."
The Robbins' hoped Riley would be like his big brother. He wasn't so lucky.
"What you see in a child is losing more and more developmental milestones," says Pediatric Pulmonologist, Dr. James Logan.
Riley's lost muscle function in his upper body, and he has no muscle control in his throat. Nurse, Dianne Alliston, is with him four days a week. She says Motrin, massages, and hot baths are all she can do to keep him comfortable.
"There's nothing that's going to give him any relief with this."
Everyday is a struggle in this household. Medicaid and social security barely cover Riley's medical bills. His formula alone costs $100 a can.
The most draining part of this disease, says Lori, is the unknown, "To know that my child is sitting in there dying from a disease that nobody knows about because there's no research, it hurts."
For more information on Riley, and how you can help the Robbins family, click here.