Rali’s parents begin her story with the moment their world shifted around her. At six months old, Rali began losing head control. Her appetite faded. She slept too much. She grew quieter and quieter. Doctors searched for answers, and by her first birthday, they finally had one. Rali had Leigh syndrome caused by an ATP6 gene mutation.
Her father, Nikolay, remembers that moment the way parents remember the worst days of their lives. “It’s not enough to say that it’s devastating, because you basically get news that you’re losing your child.” He spent years afraid of outliving his beautiful daughter.
When Rali started the “mito cocktail,” her smile returned. It brought her family hope. “It restored her smile. It restored her beautiful face.”
While Rali’s verbal communication is limited, her smile speaks volumes, along with the small ways she connects with the people she loves. “She really loves to cuddle. She loves hugs. She loves physical connection with other people,” her father shares. He notes how her laugh is its own kind of language. “She loves other people’s laughter. When she sees someone laugh at something, she just laughs… naturally.”
Her milestones take extra time, but when they arrive, they are moments her family cherishes deeply. Her parents remember the first times Rali sat up, stood in her crib, and crawled. Recently, during a speech therapy session with flickering candles, Rali strung three words together. Her mother recalls, “she said, ‘I want fire.’” Her father added, “These moments are much bigger and much more significant than an ordinary kid would bring to you.”
Nikolay’s eyes welled up as he showed an illustration from a children’s book about his daughter: Rali’s reflection in a window, rain sliding down the glass like tears on her cheek. At that point in her illness, Rali had lost the ability to cry. The picture captured a hard truth their family couldn’t put into words.
For Rali, even a simple cold can take months to recover from. A severe infection can set her back half a year. Too many illnesses too close together can erase the progress she works so hard to gain. To keep her safe, her family made a difficult decision. On weekdays, Rali lives with her grandmother in a quiet suburban home, away from the city and germs. Nikolay explained, “It’s a trade off that we decided to take, for the sake of her well-being.” It is a loving choice, but a painful one. They video chat every day and see her on weekends and holidays. He says quietly, “I still miss her a lot.”
Even so, Rali keeps going. Doctors once told her parents that children like her rarely survive past age five. She is eight now. “We’re beating the statistics. Rali’s beating the statistics,” her father says.
She crawls through the house, especially after her younger brother. Her mother said, “She’s very curious. Normally, when Bobby is in the room, she’s only watching him, and when he goes out, she tries to do the same things like him.”
When Rali was diagnosed, her family felt completely alone in Bulgaria. She was the only known child with Leigh syndrome in the country. That changed when they found the Cure Mito Facebook community. “The gap was filled with this wonderful Leigh syndrome community from all around the world,” her father said. “We no longer felt alone.”
Their daughter’s story has since reached people far beyond their own country. The book about her sold more than six thousand copies in Bulgaria. They hope to publish the English version soon. Thousands of people now follow Rali’s journey, forming a national and global community, cheering for her progress and strength.
Her parents pour their energy into Cure ATP6, a Rare Village Foundation fund they created to push research forward. Nikolay points out the constant effort his wife puts into everything from advocacy to fundraising. Today, they have raised over $400,000 USD. “None of that would have been possible if my wife was taking full-time care of Rali.”
Rali’s life is complicated, but it is full of small moments that are everything to her family. What holds it all together is the love around her and the determination her family brings to each day. They do what they must to keep her safe, give her comfort, and make sure she has as much joy as possible in a life that has demanded the unimaginable from all of them.
