Titanium girl – Kommersant

Marina lives with his parents and sister in the town of Alatyr in Chuvashia. At 16, she is in height as a six -year -old girl. And she has been pursued by fractures all her life – already dozens, if not hundreds. The very rare and severe form of imperfect osteogenesis is to blame – congenital fragility of bones. Modern medicine knows how to cope with this disease, but the treatment of osteogenesis is a complex and very long story. Marina goes this path with the Rusfond – our readers have helped her more than once. Now the girl needs to strengthen the broken shoulder bone with a growing titanium pin to save her hand.

“Mom, don’t bother, please,” Marina asks. “I want to help Dasha myself, we will figure it out – I’m big!”

Mom quietly closes the door, and the sisters sit next to the lessons-16-year-old Marina and eight-year-old Dasha, who has already grown out to her sister to a whole head. For Marina, to help sister with lessons one of the main joys of life. Games, chatter – everything stops.

But today they got up quickly with the lessons, because Marina soon has a client. Yes, a real client. About two years ago, she was carried away by a manicure. It was so carried away that her parents gave her a certificate for teaching a nail service, as it is now supposed to be called. The courses are successfully completed, and now the girl is gaining experience little by little – it makes manicure classmates and mother’s girlfriends.

– It turns out very cool and interesting for her! – says Mom Natalia. “You know how they love now: nails of different colors, with rhinestones, all kinds of stickers.” In our city, many earn this way, but Marina is shy, she takes money only for the material. In general, she has a creative nature, she wants to become a designer, but she just has not decided what exactly. And very sociable. When we go to Moscow, it will always find out with everyone in the compartment and make friends.

And you have to travel regularly – in the Moscow GMS clinic, Marina has been treated for 14 years. The imperfect osteogenesis, the congenital fragility of bones, is actually a whole gamut of diseases with similar symptoms. Marinin is called Brook Syndrome. It is very rare – about one case per million – complex in treatment and heavy.

The first fractures of the ribs occurred in Marina even intrauterine. And at the age of month, she broke her right leg, and in a dream she just turned awkwardly! The diagnosis was made quickly. But it is surprising that doctors of Natalia did not talk about the possibilities of treatment. Well, Alatyr is a small town and not the most convenient for life, the population has been steadily declining for the past twenty years. But they looked at Marina in Cheboksary, and the same result: imperfect osteogenesis, does not give in to treatment, they said Natalia. And the daughter simply scattered into pieces: fractures and cracks almost every week, the bones grow up incorrectly – once the femoral bone generally fused at a right angle, so that the girl temporarily lost the opportunity to walk.

Natalia herself found the GMS clinic on the Internet, where they have been working with imperfect osteogenesis for a long time and where Marina was literally gathered. It took 29 courses of treatment with a drug that helps bones to strengthen, in combination with rehabilitation under a special program. The fractures became less and less, and in order to warn them, titanium pins were installed inside the bones. First in one thigh, then to the other, then in the lower leg. And the turn of the spine came – he also suffers with imperfect osteogenesis. Scoliosis began and began to progress, in 2019 the girl was installed in the back of a sliding metal structure.

– Everywhere we have metal. I call her “titanium girl,” Natalia jerks sadly.

Progress is obvious: Marina is still walking with walkers, but her legs have not been breaking up lately. Now we need to urgently engage in the left hand. The girl already broke her shoulder twice – for the first time with a slight displacement, in the second with very noticeable – she is tormented by pain. To prevent the deformation from increasing, a growing titanium rod needs to be installed in the shoulder bone – approximately the same as in the bones of the legs. But pay for the operation worth a cost of almost 2 million rubles. The family is not able to. Now it is very important not to quit what has begun and help Marina establish life with her difficult illness. And morally she has already prepared for the operation. “I won’t wait, although it’s scary,” the girl admitted to her mother.

Alexey Kamensky, Chuvashia