LOUISVILLE, Ky. — There's a blood disorder so rare, there are only 20 known cases of it in the country and two of them are in Louisville.
It's a disease that took months to diagnose with a treatment found halfway around the world.
It's nap time for two-year-old Cecilia Shasky, but she's showing no signs of slowing down at her neighborhood playground.
"At this point, you wouldn't even know when you look at her that she has anything," Rebekah Shasky, her mom said.
It's a complete turnaround from where she was a year ago.
"We couldn't socialize with anybody. We were staying in our house. If anyone came around, it was our parents, with masks," Shasky said.
A blood test during Cecilia's 9-month well-checkup showed something was way off with her red blood count, but doctors couldn't explain why.
"We got to that period where it was just a mystery," Skyler Shasky, Cecilia's dad said.
Dr. Mustafa Barbour, with Norton Children's Cancer Institute, was the next step in the process.
"When we tested for the common causes of anemia, everything came back negative," Dr. Barbour said. "Some of these diseases, you look at the child and that's what gives you clues to what's going on. In Cecilia's case, she looks perfectly healthy."
When a bone marrow biopsy couldn't produce the right answer, the Shaskys underwent a comprehensive genetic test.
"The process took us almost 6 months to give it a specific name," Dr. Barbour said.
Cecilia had hereditary orotic aciduria.
"They were very honest, like, we've never had a patient with this," Rebekah Shasky said.
It's an extremely rare genetic disorder and without treatment, you're easily susceptible to infection and possible developmental or neurological delays.
"They said everything lines up. This is what she has," Rebekah Shasky said.
What are the odds? It's a recessive gene, meaning both parents have to be carriers.
Tests confirmed Cecilia's mom had a gene mutation which was 1 in 100,000, but her dad's had never been documented before.
"We just happened to meet and get married and create these rare genetic babies," Rebekah Shasky said.
Cecilia's year-old sister Vivienne is also positive for the blood disorder.
The good news: as rare as this disorder is, there's a treatment.
"It was just truly unbelievable that there was this medication that was going to be able to give them a normal life," Rebekah Shasky said.
The medication is produced in Scotland and shipped to a Pennsylvania pharmacy, the only one in the U.S.
Within the first few weeks, the young girls' lab results were normal.
"Everyone was shocked by that and it was answered prayers for the last 9 months," Rebekah Shasky said.
The Shaskys get monthly shipments of medicine for both girls. They take it every morning and will for the rest of their lives.
"It's a powder. I mix it into their apple sauce. I don't even think about it. It's just like a supplement essentially," Skyler Shasky said. "We just are so thankful that we have this crazy story but it has a happy ending."
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