It’s not just a disease, it’s genetics
Call it kismet.
Cristy and Rick Spooner of Rancho Santa Margarita finally learned two and a half weeks ago that two of their three daughters have a rare genetic disorder, a diagnosis for which they waited more than a decade. All it took was reconnecting with a UC Irvine geneticist last summer.
The Spooners’ oldest, Calyn, who goes by “Cali,” started having tremors at 4 months old, says Cristy, 35. She and Rick, 41, took her to a pediatrician, then to a neurologist. The doctors thought she was having seizures.
“They admitted us, and in four days at the hospital, they ran every test [they could think of],” Cristy says.
Each test found Cali, now 14, wasn’t having seizures. Doctors ran out of answers.
Their youngest, Ryann, started exhibiting the same symptoms at about the same age.
“She kept shaking her head ‘no’ and her eyes were twitching,” Cristy says. “Everyone was obviously more aware because we had gone through this with Cali.”
When Ryann, now 3, didn’t sit up or meet other typical milestones by her six- and nine-month check-ups, their pediatrician sent them to the neurologist.
“That time, we were admitted to [Children’s Hospital of Orange County] immediately,” Rick says. “They ran the same battery of tests from 13 years before. MRI, video EEG, spinal tap. It was literally deja vu.”
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Denim For Genes
Nicole Boice founded the Global Genes/RARE Project almost four years ago after watching her friend’s son suffer for two and a half years before being diagnosed with Joubert syndrome.
Basically, he was born without part of his brain, Boice says.
“I was flabbergasted that here we are with the best child care in the world, but we missed this,” she says.
There are 7,000 rare diseases affecting one in 10 people worldwide, according to the project’s website, globalgenes.org.
“That’s more than cancer and AIDS combined,” Boice says.
She started to see lots of similarities between families dealing with rare diseases and wondered how such a massive community could exist, yet have no support.
She left her full-time job and started the Global Genes campaign, similar to the pink ribbon campaign for breast cancer.
Supporters were encouraged to wear jeans and denim ribbons Thursday, which is Rare Disease Day, Boice says.
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Chance Encounter
Once the Spooners found out they were dealing with a rare disorder after Ryann was born, friend Kim Sherman told the Spooners to talk to Boice. Sherman owns Echo Media Group, which handles public relations for Boice’s Global Genes.
Dr. Virginia Kimonis, the UCI geneticist, saw the Spooner family’s story in a RARE Project gala program last year and remembered them, Cristy says.
The Spooners had worked with her after Ryann was born, running all the genetic tests, which didn’t provide any answers.
But now Kimonis had new testing, called exome sequencing. Within two months, the family was giving blood and finding answers.
“Typically, a geneticist will come up with a clinical diagnosis,” says Kelly Gonzalez, senior manager of clinical genomics at Ambry Genetics, the lab that performed the Spooners’ sequencing.
Geneticists usually order tests for one gene at a time, but exome sequencing can look at almost all the genes in the human genome in one go, she says.
“[The Spooners] wouldn’t have been able to do this test even three of four years ago,” she says. Beyond advances in sequencing and computer technology, scientific research hadn’t progressed enough to get a diagnosis.
“The mutated gene we found in the Spooners wasn’t a characterized gene until 2010,” Gonzalez says. “A few years ago, if they had ordered this testing, we would have missed it.”
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Diagnosis, Treatment
Cali and Ryann have a mitochondrial disease known as Complex 1 Deficiency.
Basically, the mitochondria within their cells lack a protein that would give cells the energy they need to function normally, their mom, Cristy, says. The girls essentially have cellular brain damage in the cerebellum because of a recessive gene both parents carry.
But there’s hope. The Spooner family, which includes Raelyn, 7, is in the process of putting the girls on a vitamin cocktail and clean eating. The nutrients in the vitamins, and fresh fruits and vegetables could give the cells what they need to allow the girls to one day walk and talk, Cristy says.
Although there’s not a tried-and true road map for them to follow, Cristy and Rick look to the other two people in the world who have the same disease.
“We do know they are progressing,” Rick says. “Most mitochondrial disease is degenerative, so it gets worse. All four people known to have it are showing improvement.”
The Spooners want to meet the other families and help each other out, he says.
Cali recently had a muscle biopsy because doctors want a sample to compare any future improvements to, Cristy said. Kimonis, who was is out of the country, will help with a treatment plan when she returns.
“As terrified as we were when we found out Ryann had the same disease, it was a huge blessing to have,” Cristy said. “We weren’t looking into genetics. We thought it was vaccinations or thought Cali had something very isolated.”
Twitter: @jamierowe3