‘We were just so shocked.’ Girl diagnosed with rare fatal disorder
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IDAHO FALLS — Gina Torrans’ granddaughter, 6-year-old Avery, has suffered from health issues for years.
Until recently, the family believed those issues stemmed from attention-deficit/hyperactivity disorder (ADHD), or something similar. But in November, after extensive testing, first at the University of Utah, then Primary Children’s Hospital in Salt Lake City, Avery received a diagnosis that all parents fear — a rare disorder that may drastically shorten her life.
Gina and her daughter Jessika, Avery’s mother, were told by doctors at Primary Children’s that Avery had Mucopolysaccharidosis type 3 (MPSIII) — a progressive disorder that attacks the brain and central nervous system.
The diagnosis got worse earlier this month when doctors told the Torrans family that the Idaho Falls girl has the most serious form of the disorder, MPSIII type A.
With no known treatments, Avery is not expected to survive more than 10 years.
“We were just so shocked. We’re still really shocked, and just stunned,” Gina told EastIdahoNews.com. “It made us think a little differently about our time — it’s so important.”
According to Gina, MPSIIIA acts like Alzheimer’s, limiting Avery’s ability to remember, understand, and control her behaviors and emotions.
The symptoms, which do not show up until a child is preschool age, include lack of mental and motor development and eventual decline, sleeping problems and speech delay. Progressively, Avery’s organs will begin to enlarge, Gina said, while her lungs deteriorate. As Avery’s doctor told her family, it will eventually be heart failure that takes Avery’s life.
Avery is also unable to isolate pain. Recently, while visiting her grandmother in Blackfoot, Avery fell into a cactus. As Gina was picking cactus stickers out of her granddaughter’s hands and arms, she asked Avery where it hurt.
Avery, who did not cry during the experience, knew she was in pain but didn’t know where the pain was, Gina said.
Avery is also incapable of retaining information the way many children have by her age. According to Gina, something like the fact that hot water burns is easily lost on her grandchild, meaning Jessika must stay at her side at all times for safety.
The family received the diagnosis in November. As soon as Gina, Jessika and Avery returned to their vehicle, Gina got on Google to search for information. She was taken aback when she discovered the lack of even experimental treatment. As she told EastIdahoNews.com, the only treatment is love and as much joy as the family can provide.
Obviously, returning to normal life following that news was difficult.
But when Gina walked into work for her next shift at the Great Western Malting Company in Pocatello, she found that her co-workers had decorated her office with Christmas lights.
Then, she was called to a meeting. And when she walked into the meeting, everyone was already there, in a circle. She was asked to step to the center of the circle.
A jokester, Gina thought she was in trouble for something she had done in the past. But she was surprised by gifts of cash, a half of beef and offers of a fundraiser to assist her family. Her boss, whom she described as the “tough John Wayne-type” stood unable to talk, bawling for five minutes before presenting the gifts.
And the gifts have kept coming, primarily in the form of cash offers from other employees, at a time when most are concerned about their own family and children. Finally, her company has decided to sponsor Avery’s wish with Make-a-Wish.
In total, Gina estimates that donations have totaled in excess of $10,000.
“It’s really made a tough situation a lot brighter — they’ve really just put so much heart in it,” she said. “It’s really a cool thing to have a group of people make you feel that cared about.
“The gift they gave was a lot more than monetary,” she continued. “It was a gift of — it was completely heartfelt.”
Cash donations have helped with medical expenses, as well as travel. (The family doesn’t currently have a public fundraiser.)
Because of the testing required, Jessika and Avery make the long trek from Idaho Falls to Salt Lake City once or twice a month to visit Primary Children’s.
Avery’s wish is still to be determined.
It is difficult, Gina said, because of the effects of the disorder. Some days, she said, Avery runs around laughing and yelling for Nana, and others she is unable to walk. Some days, Avery is unable to differentiate between Disneyland and McDonald’s. When Gina goes toy shopping, to spoil her granddaughters the way only a grandma can, she buys the same toys for Avery and her 1-year-old sister.
Because of Avery’s love for horses, the family has considered using her wish on equestrian therapy. Disneyland remains an option as well.
Like most grandparents, Gina said she has always looked forward to watching her granddaughter grow into adulthood and the special relationship that would bring. But that long-term hope has now been replaced by a short-term mission of love shared by the whole family.
For now, the family’s total focus is on spending every possible minute with little Avery, collecting as many memories as possible.
Locals can donate to Mucopolysaccharidosis research and assistance to the families of those diagnosed with the disorder at MPSsociety.org.
The North Carolina-based National MPS Society, directed by family members of those diagnosed with MPS, is focused on creating a better understanding of MPS and generating future treatments.