Lera began to have frequent headaches and felt strangely tired – she didn’t even have the strength to go outside, let alone do her favorite thing – dancing. One day, the girl lost her speech and memory for a short time, and her vision deteriorated. But Leroux was discharged home with the verdict: “Everything is fine, no treatment is needed.”
Freckles and spots on the body
“What a wonderful girl you have,” people said to Oksana, “sunny!”
Smiling, fair-haired Lera really seemed to glow. And also cute freckles, well, the girl definitely loves the sun. These freckles and spots all over my body… No one attached any negative meaning to them. Until the age of 15, neither her parents, nor her friends, nor Lera herself could even think that this was a sign of a serious genetic disease.
Lera is from Penza. She studied well, danced, and studied languages. But in adolescence, health problems suddenly began. The girl began to have headaches often, and strange fatigue appeared – she didn’t even have the strength to go outside, let alone dance or play sports. Lera abandoned all her favorite activities. And the spots on the body became more and more numerous.
One day at school Lera had a strange attack that looked like a stroke. The hospital was unable to make a diagnosis; Lera temporarily lost her speech and memory, and her vision deteriorated. Oksana recalls how she tried to get at least some clarity from the doctors: “What is happening to the child?” But Leroux was discharged home with the verdict: “Everything is fine, go to school, no treatment is needed.”
“They didn’t even give me a certificate of exemption from physical education,” Oksana recalls.
“Operation tomorrow”
Lera grew weaker every day. I stopped going to school, hardly got out of bed, and lost weight because I ate almost nothing. Dizziness and vomiting were added to weakness and headache. The girl got worse every day. Local neurologists, neurosurgeons and other doctors refused to diagnose and admit Leroux to the hospital. And Oksana urgently took her daughter to Moscow.
“I remember we had an appointment with a neurologist, she looked at Lerina’s MRI results and looked at me in horror: “Is this why you were discharged from the hospital?!” Quickly see a neurosurgeon!” The neurosurgeon said: “I won’t even let you out of the hospital. Tomorrow is the operation.”
Lera had a disruption in the flow of liquor in her brain and developed hydrocephalus. And the cause was a large neoplasm – neurofibroma.
Because of it, fluid accumulated in Lera’s head, creating severe pressure and causing prolapse of the cerebellum. Hence the vomiting and severe headaches.
Only after the operation, doctors at the Russian Children’s Clinical Hospital (RCCH) were able to make an accurate diagnosis: “neurofibromatosis type 1.” This is a disease in which numerous neurofibromas are formed – benign tumors that develop from the sheaths of nerve fibers. Most often they are located in the layers of the skin and subcutaneous tissue, and sometimes affect the brain, nerve fibers, spinal cord roots, soft tissues, and internal organs. The disease is characterized by the appearance of multiple pigmented café-au-lait spots, so Lera’s freckles were a sign of an actively developing disease.
The girl had a shunt installed to remove excess fluid and allow her brain to function normally. But what Lera was most worried about was the loss of her hair – it was shaved off before the operation.
– Can you imagine being left without hair at the age of 15? – Oksana sighs. – She’s a girl.
“Do whatever you want, just get me out”
After the Russian Children’s Clinical Hospital, Lera was sent to the Institute of Pediatrics and Children’s Surgery named after. Veltishchev to confirm the diagnosis using genetic analysis. And then… Lera had just started to feel better, when suddenly everything happened again: vomiting, headaches, pressure in her eyes – such that they seemed to be crawling out of their sockets…
“Not even 8 months had passed before we had a second operation – the shunt stopped working due to the vessels entangled in it and hydrocephalus developed again.
And again Lera’s hair, which had grown by 6 centimeters, was shaved off and she was again placed on the operating table.
“Only now she wasn’t worried anymore—she felt so bad,” says Oksana. “She asked: “Do whatever you want, just get me out, help!”
The operation was successful, and now the shunt will need to be changed every 8-10 years. At least Oksana really hopes that it won’t happen more often. Lera also needs to find therapy for neurofibromatosis.
— The genetic analysis, which was carried out under compulsory medical insurance and waited for almost 5 months, showed nothing. The doctor explained that perhaps it was due to numerous mutations and a detailed blood test was needed – whole genome sequencing. Unfortunately, it is done for a fee,” explains Oksana.
The family is in a difficult financial situation: Oksana does not work because she is caring for Lera, and Vladimir, the girl’s father, recently suffered a stroke.
Today the family exists in two cities: they live in Penza with periodic trips to Moscow, so as not to miss the appearance of new fibroids in the body. They may not be visible, but they cause pain and interfere with normal life. For example, Lera began to have pain in her shoulder joints, and we need to carefully monitor whether the disease begins to develop there.
The girl really needs genetic analysis. So that doctors can select therapy to live without fear and pain. Please, help.
The Pravmir Foundation helps people with unknown diagnoses undergo expensive genetic testing, which allows them to accurately determine the disease and select treatment. You can also help by transferring any amount or making a regular monthly donation of 100, 300, 500 or more rubles.
2023-10-13 06:26:38
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