Three years ago another miracle happened in the Karabatov family - their second child was born: a little lion cub, red-haired and smiling Sasha. A healthy and strong baby, a real joy and the pride of the family.
It all started with another visit to the pediatrician when Sasha was three months old. The doctor asked his mother how the baby goes to the toilet and decided that Sasha should see a surgeon and the surgeon strongly recommended to take some tests. Among them was a biochemical blood test for liver enzymes, and it turned out that Sasha's liver enzymes were very high. Since then Sasha's frequent visits to doctors began.
To this day the boy's liver enzymes test is higher than normal. All investigations do not show where did the child get such deviations and what to do about it. Sasha was taken to an infectious disease specialist, a hepatologist, a gastroenterologist, a geneticist, but no significant changes in his health after any examinations or treatments. The readings remain elevated.
Even with frequent pains in the tummy, which Sasha is used to, he is very playful, loves to play with his toy cars, and he also likes to vacuum the carpets with his daddy. An ordinary baby! But in the future, around his teenage years, Sasha may have much more serious problems with his liver up to cirrhosis.
This is why the sooner the boy gets help, the sooner the problem will be solved and Sasha's health will not be threatened in the future. Genetic analysis, i.e. full genome sequencing, will help to determine the cause of the disease. We already helped the family with the payment of the genetic analysis - complete exome sequencing, which, unfortunately, did not give the result and the answer to the main question. It's possible that the boy had a gene breakdown on the liver side, or it could be something else entirely, such as a metabolic disorder. In any case, after all the examinations, the only hope of finding out the circumstances of the disease is a genetic test.
Help Sasha find out about his disease and start treatment as soon as possible, so that his future is not threatened!