Angelina Gappasova had once got help from US doctors, and now, thanks to our supporters, there is a hope for her further improvement.
Angelina is eight years old. The girl is severely ill from her birth, but the diagnosis was established only when she got five. It turned out that Angelina is a unique patient. Probably she is the only one in the whole world. And they were doctors from NIH, who helped to find out the cause of the child’s illness.
Angelina had suffered from numerous symptoms. She had endless fevers and blood pressure jumps. The girl could not walk because of a severe pain and even could not eat. Angelina had been in a terrible condition before she was diagnosed.
Doctors from Dima Rogachev’s Center did their best to help the child, but in vain, since she had no diagnosis. Only in 2015 it became possible to perform for Angelina a whole exome sequencing – DNA-based test that revealed a mutation in a new gene. No other person in the world is known to have mutations in this gene! In order to prove connection between the mutation and the girl’s condition doctors from NIH invited the child for an examination. The connection was demonstrated and thus the diagnosis was established. Finally, experimental treatment was recommended for Angelina.
The treatment suggested by NIH doctors transformed Angelina from a miserable creature to a good-looking child’, says Anna Shcherbina, a doctor from Dima Rogachev’s Center, “The girl gained weight, became able to walk and even started to go to school”.
In the end of May 2018, Angelina visited NIH again in order to get further recommendations on her treatment. This visit became possible due to the supporters of Podari.Life. Angelina needed medical assistance during the flight from Moscow to Washington. The doctor, who accompanied Angelina, got his visa only a day before the girl’s flight. Our supporters not only donated money for the doctor’s tickets, but also helped us to find an affordable accommodation for him within a few hours.
Now Angelina is back in Russia with her new recommendations from NIH. Podari.Life as well as Angelina’s family is very thankful to all people, who made the girl’s visit to NIH possible.