February 28, 2012
Published: February 28, 2012
By ERIKA I. RITCHIE / THE ORANGE COUNTY REGISTER
RANCHO SANTA MARGARITA – A year ago, Cristy and Rick Spooner walked out of a doctor's office after being told he had no idea what was causing two of their daughters to be debilitated with a disease that prevents them from walking, talking and in any way taking care of themselves.
"It was devastating," said Rick Spooner, 40. "The doctor said it was genetic and told us it would be more common to win the lottery twice than it would be to meet someone who has the same recessive gene."
After dozens of tests, including MRI's, scans, X-rays and vials and vials of blood, the only thing doctors do know is that Cali, 13, and Ryann, 2, have an abnormal pattern of cells on a part of the brain that causes them to be cognitively delayed, unable to speak and only move around with their walkers.
The girls need assistance going to the bathroom and eating. Medical records have been sent to doctors around the world — including to a university research group and to the Mayo Clinic — and no one knows what disease they have.
The Spooners are hopeful their story can shed light on people worldwide who fight rare diseases. As part of promoting awareness the Rancho Santa Margarita couple has joined with Nicole Boice, of Dana Point, who founded the Rare Diseases, Advocacy, Research and Education project. On Wednesday, World Rare Disease Day, supporters will wear jeans to support the effort.
Boice said research indicates there are more than 350 million people battling rare diseases worldwide — 75 percent are children. To help families such as the Spooners, R.A.R.E. has launched The Global Genes Project to raise financial support for disease databases, fund peer reviewed multi-disease project and impact policy and fund disease research foundations. Fifty percent of rare diseases have little or no individual advocacy group driving awareness and support, Boice said. In the last 25 years, only 350 new drugs for fighting 7000 rare diseases have been approved by the FDA.
"Rare disease is not rare in that there are millions of parents like Rick and Cristy advocating on behalf of their children with little to no broad support," said Boice. "Rare diseases affect more people globally than any other disease, more than AIDS and all cancers combined."
The Spooners' journey into this world of the unknown began when Cali was just eight months old. She looked perfect. But when she couldn't crawl and sit, the couple became concerned. A neurologist found nothing conclusive other than a spot on the cerebellum was revealed.
Her parents took her to the Mayo Clinic. Doctors there said whatever it was, was "extremely rare." At that time they didn't believe it was genetic because all her physical features were fine, Cristy Spooner said.
The couple, who own and run a Mission Viejo-based national notary service, used their resources to get Cali the only help they could — therapy. She's had and continues with speech, vocational, aquatic and equestrian therapies.
Meanwhile, the couple researched and waited to see if doctors found any genetic defect. After more than six years, hoping there was no genetic tie, they had their second daughter, Raelynn, 6. She was born free of the disease. Hopeful, they tried again three years ago for a boy.
The boy turned out to be a blonde little girl named Ryann. For months everything seemed fine. Then when she was 9-months-old and hadn't started to crawl, the couple fears — gone for years — came back.
Doctors at CHOC at Mission found the same odd pattern of cells on her brain. With Ryann's diagnosis, doctors confirmed that the disease was genetic. The Spooners were told there would be a 25 percent chance their children would get the disease.
A second geneticist recommended the family submit all their medical history to university research groups. They're hoping one doctor or a group might be the one to take on their case.
"Most likely we'll they will never provide answers for us," Cristy Spooner said. "We can submit all our family history and maybe for future families and generations, they might find some comparisons."
In the meantime, the family is happy and deals with the girls' special needs. Sister Raelynn likes having her special sisters but still blows out her birthday candles every year with the same wish. "I want my sisters to walk and talk and play soccer with me," the 5-year-old said.
"Our goal is to get them as independent as possible," Cristy Spooner said. "They'll probably live with us for the rest of our lives but we want them to be an active part of the community."
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