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BLUE BELL, Pa. (CBS) — The last day of February marks Rare Disease Day. It’s estimated that 30 million people have a rare disease, so scientists and families are trying to raise awareness.
Many rare diseases go undiagnosed, and there is no cure for most.
Having a rare disease is hard enough, but imagine if you find out your child is the only one in the world with a unique genetic mutation.
Five-year-old Avery’s parents keep her busy, even though the adorable little girl can’t sit up or talk.
She has a rare kind of epilepsy called CDKL5 deficiency disorder.
“Our neurologist called, he said ‘Well, there’s nobody in the world that has the specific mutation that she has, so I can’t tell you what it means for her, I can tell you it’s significant,’” Avery’s mother, Kristin Kozera said.
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Kristin and Brian Kozera, who live in Blue Bell, soon learned their third child had severe deficits. and there was no treatment.
“Really, it’s just the bottom falls out, it was tough, it was a really — it was a tough diagnosis,” Kristin said.
But they’re determined to do anything that might help. Avery has all kinds of special equipment and joins the family for everything.
“She just brings out the best in everybody, just because she can’t talk, she makes everybody’s life better, anyone she touches,” Brian said.
The family hopes to raise awareness about rare diseases, to educate people and raise money for research.
“There’s so many people out there living with a rare disease, but because there are so few of them in each individual disease, it’s really hard to get awareness and it’s hard to raise funds,” Kristin said.
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And while they wait and hope for better treatments, Avery’s parents hope people come to understand what they know — how very special their little girl is.
“We’re hoping to get a little more acceptance, more inclusion, more opportunities and resources to make sure she’s able to come and do all the things any other kid would be able to do,” Brian said.
Avery’s mom says they’ve found a lot of support on Facebook. Rare Disease Day takes place on the last day of February, a month known for having a rare number of days.
Doctors say there are over 6,000 rare diseases.