Although 12-year-old Karina’s vocabulary is very limited due to her rare genetic condition, she can say two words that her mom, Bina, considers to be among the most important pieces of language in the world: “hi,” the universal greeting, and “mama.” Speaking just these two words took years of therapy and perseverance, a testament to the little girl’s determination and grit.

When Karina was born in New York City, where her family lives, genetic testing revealed that the little girl had a genetic mutation on her eighth chromosome, an extremely rare disorder called chromosome 8p inversion/duplication/deletion. Some of Karina’s genes are missing, duplicated or flipped around, and her diagnosis is associated with global development delays, congenital heart defects, and other health complications.

Bina discovered that the condition is so uncommon that doctors had a hard time offering a prognosis for Karina. That’s when Bina began searching for the best places in the country to treat her daughter. She discovered the Children’s Hospital Colorado Neurogenetic Multidisciplinary Clinic, which is leading the nation in research, advocacy and therapy for kids with rare conditions that affect the nervous system.

After visiting the clinic, Bina felt more optimistic than ever for her daughter’s future, as specialists, including precision medicine experts, helped come up with a treatment plan for Karina, a sweet and loving little girl, who adores her older brother. “At Children’s Colorado, there were 10 different people observing Karina walk - and I could see and feel it was all with hope,” she said. “They focused on what she can do, not what she can’t do. That is invaluable.”