SAN JUAN CAPISTRANO Aubriana Navarro celebrates her second birthday Wednesday, and that in itself is extraordinary: she suffers from type 1 spinal muscular atrophy, a rare genetic disease that typically claims its victims before they reach even that modest milestone.
Though unable to sit up without the assistance of her parents, Aubriana, attached to a permanent tracheal tube and ventilator, smiled for visitors Tuesday as her parents prepared for a very public party — anyone can come, they say, and they can accomodate up to 200.
“We invited family and friends, to spread awareness,” said Aubriana’s mother, Shellie Lopes.
Her parents believe there will be more birthdays, despite the grim statistics.
“When she was first in the hospital, they said it was a death sentence,” Lopes said. “I don’t like to say that. I don’t believe it.”
And Lopes, 25, along with Aubriana’s father, Eric Navarro, 27, say they have new reason for hope.
UC Irvine stem-cell researcher Hans Keirstead is developing a treatment for babies that suffer from the disease that relies on human embryonic stem cells.
Keirstead, who developed another treatment for acute spinal injuries that will become the world’s first clinical trial using stem cells, wants his new treatment to become the world’s second.
The proposed trial must first win approval from the Food and Drug Administration; only then will candidates be chosen, and no one yet knows who will participate.
But Navarro and Lopes say they would leap at the chance to have their daughter treated with the new method, despite the controversy surrounding the use of human embryonic stem cells. Many object because the cells are derived from human embryos, even though those early-stage embryos are destined to be discarded by fertility clinics.
“A lot of people are opposed to the idea of stem cells,” Lopes said. “When you see someone like Aubriana, so innocent, and would benefit — I would love to try it. I believe she deserves a shot at life with stem cells.”
The disease, known to the tight-knit group of parents whose children have it as “SMA,” does its damage in a strange reversal of the usual pattern of child development.
Instead of becoming stronger and more active as they age, SMA children grow weaker as they grow larger; already, portable machines must be used to help Aubriana breathe and cough, and she must be fed through a feeding tube to reduce the chance of pneumonia infection.
“She was born perfectly,” Lopes said. “As they get older, they start to regress.”
The motor neurons that normally control muscle movement gradually lose their connections to muscles in SMA children. Keirstead’s treatment involves the injection of motor neurons grown from stem cells into the spinal cords of the infants; if successful, the neurons would grow new connections along the muscle pathways that have stopped functioning in SMA babies.
Lopes says Aubriana’s mental development is quite normal. She has the typical joys of a two-year old, and is beginning to babble and attempt to talk.
“She’s very happy cognitively,” Lopes said. “SMA doesn’t affect the brain. She’s like any other 2-year-old. It’s just that her body is very weak.”
She’s especially fond of Elmo, whom she met at SeaWorld not long ago.
“That was one of her happiest moments,” Lopes said. “She got to meet him in real life.”
Aubriana also has been to Disneyland and California Adventure in Anaheim, and to Las Vegas.
Another favorite character is Dora the Explorer, providing a theme for Aubriana’s party on Wednesday.
Despite her condition, her parents say they’re trying as much as possible to give her a normal childhood.
“It doesn’t stop us from going anywhere,” Eric Navarro said. “Whatever we have planned, we make it work with Aubriana. We make it work with her. We make it normal.”
Carrying around the equipment took some getting used to, Lopes said.
“People are always shocked about the amount of equipment we have,” she said. “It’s just a part of our normal life.”
Lopes was training to be a nurse when she was pregnant with Aubriana — a lucky accident, since the girl was not diagnosed with SMA until she was four and a half months old. Tests for SMA were not typically given when Lopes was carrying Aubriana, she said.
The training means her mother is well-versed in the medical terminology surrounding her disease, and with the many small treatments Aubriana must receive each day.
As she spoke to visitors Tuesday, Lopes more than once used a small suction device to clear Aubriana’s throat and nasal passages.
“We just suction her constantly, because she cannot swallow her secretions,” Lopes said.
Lopes and Navarro live in a world split between that of a typical family — Aubriana’s 6-year-old sister, Angelina, dotes on her — and that of parents who must be ready for sudden, potentially life-threatening emergencies that can come anytime.
Their advice to new SMA parents: keep fighting.
“I would say, don’t ever give up,” Lopes said. “That’s the most important. Don’t live like you’re dying.”
Receiving Aubriana’s diagnosis “was the most devastating day of our life,” Lopes said. “It was like a nightmare we couldn’t wake up from.”
For now, they’re focused on the party.
“We just want to give her a dream birthday,” Lopes said. “We want to treat her like any other little girl.”
Aubriana’s party is from 6 p.m. to 8 p.m. Wednesday at Franciscan Gardens, 31815 Camino Capistrano, and will include face-painting and games. Franciscan Gardens donated the venue, Lopes said, and the caterer 24 Carrot donated its services.
The party was arranged for Aubriana by the Prendiz family, who lost their own child to SMA in December. Hannah Rose was 11 months old.