By Diana Giraldo
Encircled by medical equipment, 8-year-old Samantha Garcia, lives in a “Sammie safe” environment, with white padded floors and out-of-reach furniture, resembling a home with an active toddler.
“If you look at Samantha you see a little girl who looks like an 8-year-old little girl, but [she] is trapped in an infant mind,” said Sammie’s mother, Cindy Garcia.
According to Cindy Garcia, Sammie is one of the eight children in the world known to be born with Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome (CEDNIK), a rare genetic condition which causes her to have severe developmental abnormalities.
Sammie’s behavior and communication is on par with a typical 10-to-11-month-old. She is legally blind, has severe hearing loss, and eats through a feeding tube through her stomach.
“Samantha can crawl but she can’t walk, and she has a few words she uses,” Cindy Garcia said. “She has figured out she is a little different than other kids her age. She is very aware of that, and she has showed us that she understands she can’t do what they can do.”
As a newborn, Sammie did not show any signs of health issues but at five months old trouble arose.
On a family excursion, Sammie fell ill. Running a high fever, she was urgently taken to Valley Children’s Hospital where she was administered a life-altering MRI.
In 2007, Sammie was diagnosed with agenesis of the corpus callosumm, a neurological condition where the area of the brain that connects the right and left side is absent.
“Our lives obviously had changed dramatically with different types of equipment coming into our house, and us learning how to take care of a medically fragile baby,” Cindy Garcia said.
Cindy and Sammie’s father, David Garcia, purchased a white board and began their precisely calculated lives to help their daughter thrive jotting down when her last meal was, what medicine had to be taken, and her next doctor appointments.
“There was kind of a grieving moment after we got settled in,” David Garcia said. “I felt that she was being robbed of her childhood as far as not being able to go out and play with kids or play sports or go to friends’ houses. She’s a very unique child and we know that and that keeps us going.”
Sammie received her full genetic diagnosis in the beginning of 2014. The results revealed she had CEDNIK, a condition genetically inherited from both parents.
“Prior to getting a final diagnosis, the hardest thing to get over as a mom was the fact that I personally didn’t do something wrong during the pregnancy,” Cindy Garcia said. “I carried that guilt for a really long time thinking ‘what did I do wrong?’”
For Sammie to have CEDNIK both of her parents had to carry the rare gene.
As Sammie keeps growing, the amount of medical equipment she needs follows accordingly, and with her mother as her primary care taker, the role of the main bread-winner for the family of six falls on her father’s shoulders.
“Samantha needs a lot of equipment to live daily life but just because she needs it that doesn’t mean we will just receive it,” Cindy Garcia said. “Things are bought either solely out of pocket or with very little financial support from contributing organizations or an insurance company.”
As a growing child, now about five feet—the height of her mother—Sammie poses a challenge when being placed inside of a vehicle. The family needed a van with a wheelchair lift to be able to get her from one place to another smoothly.
“For us, the only way that would be possible was to start fundraising and we came up with selling a t-shirts and with the logo ‘Samantha strong’ with her hand prints on them,” Cindy Garcia said. “We also started a “Go Fund Me” account, and we were able to raise enough money to put a deposit down on a van.”
With the help of Bud Rank Elementary School, the Garcia family will be able to pay off part of the debt from the van loans.
David Garcia, the school’s plant supervisor, is “an active member of the Bud Rank family,” said Jessica Sanchez, Bud Rank’s geographic information systems specialist. In efforts to “pay it back,” Sanchez said the students and staff at Bud Rank chose to organize a “Walk for Sammie,” a community-wide event to help raise funds for the Garcia family.
“We try to do as much on our own without asking for help and when it was said that this was going to be done, it was very overwhelming and we were very grateful,” said David Garcia.
Although the accessible van is a relief for the family, Sammie is still in need of other helpful equipment. The family’s next big goal is to purchase a jogging stroller.
“The wheelchair it is very difficult to get to different places for her to experience what things are, like taking her the beach or hiking,” said Cindy Garcia. “We could use [the stroller] to give her different experiences that she is not able to have being that she is not able to walk.”
To learn more about Sammie’s condition, Cindy Garcia has a Facebook page she updates weekly the public can follow titled Samantha Strong / Wheels for Sammie, and a Go Fund Me account at http://www.gofundme.com/8l9ut8.
“A question we get asked a lot is, ‘How do you do it.’ How could we not do it?” Cindy Garcia said. “Samantha is our daughter. Just like any child we want the best for her.”