When Andryusha was born, a piercing … meow sounded in the delivery room. The doctors scaredly examined the sterile room - where did the cat come from? But they immediately realized that the baby was crying.
Two-year-old Andryusha hugs his mother tightly and rubs against her with a tender childish cheek, purring with pleasure. Oksana Ivanova (surname changed) hugs the child to her, ruffles his hair and asks:
- Will you eat, kitten?
This affectionate appeal reveals both maternal love and bitter sympathy: Oksana's son has a rare diagnosis of Cat Scream Syndrome in his medical record.
THE DOCTORS LOVED THAT HOW ANDRYUSHA CRIES
When Andrei was born, a piercing … meow sounded in the delivery room! The doctors scaredly examined the sterile room - where did the cat come from? And only after a few seconds they realized that it was a newborn baby crying.
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- The first days after the birth of Andryusha, doctors and nurses openly giggled, - Oksana recalls. - They came up and said: your son screams so funny like a kitten. But then they stopped being touched - it became clear that Andrei was “meowing” because of the wrong structure of the larynx.
Doctors sent the baby's blood for genetic analysis and, seeing the results, gasped. The newborn had a rare "cat scream syndrome". Andryusha's meowing was only the tip of the iceberg of his illness - the baby was found to have problems with the heart, kidneys and development.
At home Ivanovs could not get used to the unusual cry of their son for a couple of weeks. But gradually the parents began to distinguish "meow" by intonation and immediately understand what their extraordinary child wants.
“Before, Andrei ate almost nothing,” Oksana recalls. - We had to feed him milk almost from a pipette, so those rare moments when he himself asked for food were a real holiday for us!
Andrei's treatment was complicated by the fact that in the small village of Troitsky near Talitsa no one had ever heard of the "cat cry syndrome." Local doctors only raised their eyebrows in surprise when they saw in the card a record of a mysterious illness. Mom often had to tell doctors herself about a rare genetic disease.
- The little son has not yet learned to walk, - Oksana sighs. - But he is almost two years old. Because of the illness, he does not even speak - the syndrome slowed down his development.
However, Andrei plays quite smartly with other children. True, he is not particularly interested in bright pyramids and racing cars. The kid likes boxes and bags more.
Cat cry syndrome or Lejeune syndrome (named after the French scientist who described it in 1963) is a rare genetic disorder caused by the absence of a fragment of the 5th chromosome
“We have toys in cardboard boxes,” Ivanova admits. - Recently I left the room for a minute, I'm coming back - my dear mother! He shook everything out, put the box on his head and hid … He plays with these boxes all the time.
Andrey's friends are also unusual - the boy finds a common language even with the most harmful … animals. Mom still recalls with a shudder how she once saw Andryusha, enthusiastically playing with the wayward black cat Barsik. But Barsik always gave back, as soon as any of the family members tried to stroke him.
- This cat scratched both me and the eldest son, - Oksana shows the scars on her arms. - Therefore, when I saw that Andryushka was reaching out to stroke him, I was terrified. But Barsik did not even release his claws - he admitted, perhaps …
BABY KITTEN
Because of her son's illness, his mother kindly calls him “kitten-baby” and even notices some similarities with representatives of the feline family. Either the baby snorts funny, then purrs (this is also a feature of the larynx), comfortably sitting in his mother's arms.
- Thank God, the meowing is almost gone, - says Oksana. - A few more months and it will disappear completely. This is the case with all carriers of this syndrome. But this is rather a cute defect that does not pose a danger. The main problem now is that we still don't walk or talk. But we are constantly studying and are not going to give up!
To pay for his son's treatment, Andrei's father began to work on a rotational basis. By the way, because of this, he did not even suspect for a long time that the child had been given a rare diagnosis.
- My husband found out about Andryusha's illness when he was 9 months old, - Oksana admits. - Before that I was afraid to tell him: you know, many men leave their families. But our dad turned out to be completely different.
Eugene, having learned about the diagnosis, instantly returned from watch. He tightly hugged his beloved, took Andrey in his arms and firmly said:
- Let's fight!
Now the father is again far from the family - he works to provide treatment for his son. But there is never extra money in a family with a disabled child. Now, for example, Andryusha needs a walker to fix his body - without them it is very difficult for a baby to learn to walk.
If you want to help Andryusha, you can transfer the amount convenient for you to the card number 639002169035760574 (Sberbank).
Andryusha with his mother in 2015 on the program Male / Female
By PURPORT expert
It is impossible to cure this syndrome
“Cat cry syndrome is a genetic disease,” explains Irina Akimova, a specialist at the Genomed laboratory. - You can only help a child with such a pathology by carefully caring for him, because such a change (in the case of the cat cry syndrome - the absence of chromosome 5) has occurred in every cell of the body, and, unfortunately, it is impossible to cure it.
