Rali Nikolaev was born in the summer of 2017 in the city of Varna, Bulgaria. During the first six months, she developed normally like all other kids - she smiled beautifully, enjoyed all sorts of foods, and liked to play. Then her parents Izabel and Nikolay noticed that something was going wrong. Slowly, Rali was losing head control and her appetite, and was developing an apathy for everything she used to enjoy.
After several consultations with many different doctors, magnetic resonance imaging (MRI) was ordered.
Since Rali was so little, doctors had to put her under anesthesia to perform the MRI. Shortly after she woke up from the imaging test, Rali started having infantile spasms. Not long after that, her parents noticed Rali’s eyes, lips and tongue twitching, a sign of focal seizures. This resulted in another urgent hospital admission. Rali’s doctors used a strong corticosteroid to reduce the brain inflammation to stop the seizures. After two weeks in the hospital, the seizures were under control and Rali went home to recover, now taking two antiepileptic drugs.
Unfortunately, when the MRI result came back, it revealed specific brain abnormalities that suggested Leigh Syndrome, a pediatric-onset, progressive and fatal neurological disease closely linked to Parkinson's Disease. From there, the diagnosis was confirmed by two genetic tests.
Upon Rali’s diagnosis, Nikolay and Izabel read a ton of research papers and found more than 15 supplements that are known to prevent the rapid progression of the disease. Under the direction of doctors, they started Rali on the regimen.
“This so-called mito cocktail works very well for Rali,” says Nikolay. “However, they all taste extremely bitter, sour, and hot. The only possible way to administer the cocktail is by mixing it with food. Because of this, Rali cannot enjoy meals as she used to.”
With the mito cocktail, Nikolay says they also have managed to stop the seizures that occurred after the MRI anesthesia and that Rali has been seizure-free since the age of 12 months.
Besides the daily medication, regular physiotherapy has helped Rali gain new abilities, like sitting alone, crawling, and even making a few steps with hand support. Rali has a great team of therapists who regularly work with her. However, these therapies aren’t a cure.
Rali is now 4 years old, but her parents fear they are in a race against the clock.
“She does not have much more time left with us,” added Nikolay. “Since the diagnosis, our lives have changed in a way we never could have imagined. God has given us this amazing and stubbornly surviving child so that we become stronger, to fight for her and all the other kids with Leigh Syndrome by doing our best to find a cure!”