BERTHOUD — Nevaeh Lynn Stanford’s first name is “heaven” spelled backward.
But Jeremiah and Brandy Stanford’s 17-month-old girl had been going through some version of hell months before she was diagnosed in January with infantile nephropathic cystinosis.
This rare genetic metabolic disease, which affects only about 2,000 people worldwide, causes a certain amino acid — cystine — to build in the body, according to the Cystinosis Research Network.
The Massachusetts-based nonprofit organization has reported that cystine can crystallize in organs, causing everything from blindness to decreased brain function.
By age 9 or 10, untreated children face kidney failure and death.
But Nevaeh’s kidneys became clogged well before her first birthday and began flushing nutrients out along with fluids.
The Stanfords knew nothing of the disease or the terrible way it would deprive her body. They only knew the blonde, blue-eyed child became red-faced while gagging, retching and sobbing after eating. And more than anything, she wanted water — and lots of it.
“You could see her bones through her skin,” Brandy Stanford said. “She had been a chunky baby.”
By the time the bewildered couple arrived at The Children’s Hospital of Denver early this winter, Nevaeh already had rickets — her bones weakened by vitamin D deficiency. Her bones were so soft that she stopped walking for two months, according to her mother.
The Children’s Hospital doctors quickly picked up on the startling symptoms.
But it took about a month to figure out the cause.
During the baby’s countless blood draws and catheters, the Stanfords kept a bedside watch.
Jeremiah Stanford, 28, stepped away from his job as a land surveyor and slept on the floor. His petite wife, a medical assistant before becoming a mother, curled up on the sofa.
Sometimes, they would place their only child in a red wagon and pull her through the hospital’s long halls.
“But she wasn’t our daughter,” Brandy Stanford said.
“She didn’t want anything to do with us. She didn’t want to be touched, and we kept wondering if we’d ever get her back again — to see her smile and walk.”
Now, about three months later, the Stanfords can name Nevaeh’s condition.
And they’ve got a dozen medications and vitamin and mineral supplements to administer throughout the day — sometimes four times a day — to help their girl live as healthfully as possible.
It is not typical toddler life. The diapered child pads around the couple’s spotless, double-wide mobile home on legs bowed from rickets.
While her peers schlep Cheerios and sippy cups full of juice everywhere, she refuses everything but cold water and ice chips.
“She relates food to throwing up,” Brandy Stanford said. “It’s still in her head that food makes her sick.”
So, for now, Nevaeh gets food, medicine and supplements via syringe injection in the portal sticking out of her soft belly like a little spigot. At night, a bag hanging on the stainless steel pole next to her Winnie the Pooh-themed bed drains into the portal.
She’s got some baby fat now and dances to almost anything with a beat, including commercial jingles, her mother said.
She loves watching “The Wiggles” kids’ television program at 7:30 a.m. and hates swimming.
Between the health scare and the hospital bills, the Stanfords could be reeling.
Instead, they have their little piece of heaven — a little girl with six teeth and hair that’s never been cut — back in the house.
She needs constant medical care and, in early adolescence, will need a kidney transplant.
But for now, she’s getting back in step.
“‘Oh, oh’ is her favorite word,” Brandy Stanford said.
Pam Mellskog can be reached at 303-684-5224, or by e-mail at firstname.lastname@example.org.
Make donations to:
Nevaeh Lynn Stanford
of the West
807 Mountain Ave.
Berthoud, CO 80513
What: Chili supper
When: 4-7 p.m. May 1
Where: Berthoud Community Center, 248 Welch Ave.
Tickets: Donations welcome
For more information:
Cystinosis Research Network, www.cystinosis.org