Yan has an extremely rare disease

11-year-old Yan is an extraordinary child who has been fighting for his life since birth. On the third day after the birth, doctors diagnosed the baby with a heart defect that urgently needed to be operated on. The child did not eat and periodically suffocated from seizures, so at 1.5 months old, Yan was admitted to the Yemets Heart Institute, where he underwent open-heart surgery, which lasted 9 hours. Fortunately, the doctors saved the child's heart, and his mother expected positive changes. It seemed then that the worst was over. Yan went to a regular kindergarten, although he had a disability and was registered with cardiologists, he felt good in the group of children.

But one summer, when Yan was not yet five years old, his gums began to bleed, mosquito bites looked very strange, and he developed a rash on his legs and bruises. The boy started complaining of headaches in the morning and was pale. The mother decided to take the child to the hospital immediately, and the boy was immediately sent to the intensive care unit. An hour later, the doctor came out and said that they barely managed to save the child, because Yan's hemoglobin level was incompatible with life. The boy was diagnosed with autoimmune thrombocytopenia, but doctors could not find the cause of this problem. The child was helped only by the hormone Prednisolone, which made him swell like a balloon. As long as Yan took the hormone, his platelets held up, and when he stopped, he had exacerbations, hospitalization and IV drips again.

Tests, examinations, genetic tests and the purchase of Immunoglobulin are very expensive for Jan's mother, who is raising two sons alone. Thanks to the help of the charitable foundation, Yan underwent a genetic analysis abroad: they sent the biomaterial, and in two weeks the disease was identified. The boy was diagnosed with a very rare primary immunodeficiency – Kabuki syndrome.

Unfortunately, nothing helped Yan except Prednisolone. But after 1.5 years, this hormone stopped working too. In two years, the guy gained an extra 25 kg, developed severe bleeding from the nose and mouth, bruises on his body, and a drop in hemoglobin. In April 2024, Yan was hospitalized again. Then the doctors prescribed him Rapamune and gradually removed the hormone from his body. Fortunately, this drug worked, and Yan started taking it every day. For almost a year now, he has been taking Rapamune, and his platelet count has increased and is holding steady. Yan has lost weight and feels much better. Now he can study without long breaks in the hospital, loves to swim and sing Ukrainian patriotic songs. To live a full life, this guy needs Rapamune medication, which he must take every day. Unfortunately, public procurement for 2025 has not yet taken place, and the single mother cannot afford to buy such expensive medicines herself.