PRICE OF LIFE of Masha Snezhkova

PRICE OF LIFE  of Masha Snezhkova

With the problem of 8-year-old Masha Snezhkova we acquainted in December 2008. She was born with Phenylketonuria (PKU)

Information Note: Phenylketonuria (PKU) is an autosomal recessivegenetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates and is converted into phenylpyruvate (also known as phenylketone), which is detected in the urine. Left untreated, this condition can cause problems with brain development, leading to progressive mental retardation and seizures. However, PKU is one of the few genetic diseases that can be controlled by diet. A diet low in phenylalanine and high in tyrosine can be a very effective treatment. There is no cure. Damage done is irreversible so early detection is crucial.

This disease does not allow to use ordinary food: bread, meat, a fish, a bird, milk, cottage cheese, cheese and many other things. If the child does not keep to a diet, there is an intoxication of a brain (to approach oligophrenia and a slow lethal outcome). At observance of a diet the child remains completely healthy.

"We went to right to keep a diet till now. As the result of it is Masha studies at usual school with the contemporaries", – has told Masha’s mum Elena Snezhkova to the representative of our fund during a meeting specially organized in the Charity House during our staying in Minsk, Belarus in the end of December, 2008 The family is in desperate position today. For diettherapy are necessary special products which are not on sale in Belarus (a flour, macaroni and many other things). It is connected with considerable material inputs. However the most important product without which the organism cannot function and grow, is a medical mix for the feed, certain by doctors-genetic on the basis of the special analysis of blood (P-AM2 P-AM3, P-AM Universal, Milupa PKU2, Milupa PKU3). Unfortunately, Maria has allergy on that feed which give out in a polyclinic (it’s the Russian development feed), therefore replacement should be bought independently.

For family it is unreasonable expenses, and today a situation in which there is Masha, became absolutely critical. And it is impossible to interrupt a diet, as processes of an intoxication of a brain have irreversible character.

"It is really awful – to look to the face to your own child and to not have an opportunity to help! – continued to tell us Elena.-In Maria’s life were there 3 days without a feed, she practically did not sleep, she had hysterics at night, she shouted and as a whole behaved very much inadequately. I ask, I very much ask you, help us to grow up Masha! Till now we managed to keep by own strength to her health.Today it seems to me simply any miracle…"

The medical documents confirming the diagnosis of the girl (the diagnosis lifelong have been transferred to us all!). Also we have addressed in the Republican medical-genetic center " Mother and the child " of Minsk, Belarus where Masha stands on the account since the birth, for explanation of the diagnosis and the explanatory of separate items of the medical conclusion. On the basis of it has been drawn a following conclusion: without specified above dietetic therapy the girl will not live. The Price of life of Masha Shezhkova is the jar of medical medley.

We address to everyone on behalf of Masha Snezhkova and her mum Elena – HELP! HELP, IF CAN! A feed and medicines are necessary for Masha constantly, and one person is not in a condition to provide material supporting of the girl. We personaly already have sent the child a can feed for the nearest 2 months, but they will end, and what is after?

We ask you to not remain indifferent to Masha’s problem and to render any feasible help for prolongation and preservations of a life and health of this girl. Only for an instant present the child on Masha’s place, and you will feel all that depth burning and a hopelessness which as the Sword of Damocles hangs above Snezhkivas’ family. You can help Masha by making a charitable donation to our fund using one of following methods:

Each dollar transferred by you to our fund will help to save and support  Masha’s life and health. Thank you for helping Masha Snezhkova.

 


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