PFAFFTOWN, N.C. -- Sadie Hopwood is inspiring the world as she battles one of the rarest illnesses in the world.
The toddler, who will turn 2 this summer, was first thought to have SMA, a rare genetic muscle disorder. But, according to family, extensive genetic testing in the past year, including from Harvard, shows she does not have SMA but instead a protein malfunction labeled AGTPBP1. She is just one of four people in the world, the only one in the United States, to have this protein malfunction, according to family.
"She has definitely been an inspiration of hope," her grandmother Tiffany Hopwood said. "She has taught me a lot about love and self-sacrifice and hope. This kid wants to live."
The protein malfunction has left Sadie unable to walk and eat. She also has trouble breathing on her own. Home nurses and her family, who went through extensive training, provide her around-the-clock care.
"[Sadie] will comfort you and let you know that shes there for you and that she cares," her mother Logan Hopwood said. "She will rub your hand and just look up at you and lock eyes at you and give you those sassy eyebrows."
Her journey almost came to a stop in February when a mucus plug cut off her airway.
"She stopped breathing and we ended up having to do CPR," Tiffany said. "Her heart stopped for several minutes. We thought we lost her."
The family spent two months at Duke Children's Hospital trying everything and exploring all their options.
"We had a very serious discussion about turning the machines off and just letting her go, that was a very hard night for our family," Tiffany said. "They said we were prolonging the inevitable." But many would argue, "aren't we all." The family decided to move forward with a tracheotomy which would allow Sadie to breath easier. "She's been happy since we got home."
With no cure, Sadie is helping in research. Her family donated tissue from Sadie to a doctor in Germany who is working to hopefully find the missing protein link.
"We are always looking to find ways to advance medicine," Tiffany said. "I just don't want Sadie's life to be in vain."
Sadie's life has inspired thousands of people who have gotten to know her through the family's Facebook page "Saving Sadie." Notes, cards and prayers continue to come in from around the world.
"That's really what got us through is cards and love," Logan said. "And her smile."
Some even buying Team Sadie T-shirts from the family.
"People are sending us pictures from the lake and the Bahamas in their shirts," Tiffany said. "We say since Sadie can't go on these journeys it sure would be nice if folks would take her shirt on their journey."
Despite all Sadie has to go through, she is a toddler who has to deal with teething and sometimes tantrums.
"She just wants to live, she wants somebody to carry her to the window to look out," Tiffany said. "She wants somebody to sit her down so the dog can lick her face, she wants you to hold her toys so she can look at it."