Start a new life
subordinated to the needs and requirements of small Igorka. equity
it should be said that the baby was unusually calm, and Lida
He ruled by him alone. That Unexpectedly
a phone call, we invite Lida with the baby for a blood test and
consult a physician-geneticist. The doctor asked in detail about health
Igorka parents and close relatives, particularly interested
the presence of both families of mentally retarded children. hardly Lida
remembered a distant relative who had seen once as a child,
when he is resting with his grandmother in the village.
and then he disappeared somewhere, and Lida could not understand now what is the connection
between that girl and her Igoryok the beloved. From further conversation Lida
I learned that all newborns in the hospital, blood is taken from the heels to
early detection of hereditary diseases - phenylketonuria,
characterized by progressive dementia. In this test Igorka
disease was positive, and he needs to go again
examination to confirm the diagnosis in the case of start
Diagnosis - phenylketonuria
As if through a brick wall to Lida came the worddoctor, the meaning of which was not clear. She felt that her son hung over the matter, from which it should be saved. Lida woke up only when a doctor, for the umpteenth time, he repeated that the child must be weaned from the breast and transferred to a special diet. Before the final diagnosis doctor recommended to use for artificial feeding mixtures based on soy protein hydrolyzate - "Izomil" or "Fitalakt" and invited to accept the result of the re-analysis of blood. I cried all day and all night, Lida started to take decisive action, surrounded by books and medical manuals, and already a few days knew about all of phenylketonuria. Phenylketonuria - a hereditary disease that the child receives from healthy, but are carriers of the gene of this disease parents.
For the normal life of a personrequired essential amino acids that enter the body from dietary protein. One of these amino acids - phenylalanine, which is cleaved under the influence of an enzyme with the difficult name. If a child is born without the enzyme, in his blood phenylalanine accumulates and its products of incomplete digestion, has a toxic effect on the brain.
The hospital carried out the sample, detect the presence ofphenylpyruvic acid in the urine of the newborn. But this simple test can not give a positive result in the first days of life. A more accurate test is based on determining the level of phenylalanine in the blood. A few drops of blood capillary (heels out) is placed on a filter paper and sent to the laboratory. Phenylalanine levels in a patient may be increased after 4 hours after birth.
If the test results indicate PKU childimmediately transferred to a special diet low in phenylalanine. The only way to prevent the development of severe mental disability and the child's disability, to ensure its normal physical and mental development.
How to live with phenylketonuria
Therefore, when biochemists, scientists haveprotein hydrolyzate, completely devoid of phenylalanine - berlofen in history fenilke-tonurii opened a new page. And thousands of children had the opportunity to grow up healthy, keeping up with their peers with normal amino acid metabolism. Currently available in specialized medical products that provide the needs of children in the protein component of the diet. This "Afenilak", "Tetrafen", "Triafen", "Fe-nilfri", "Lofenalak", "Nofelan", "Laktanal", as well as low-protein or protein-free canned fruit and vegetables, enriched with vitamins and minerals for use in the form of feeding.
Starch based cereal crops (wheat andcorn) are protein-free products, which greatly facilitates the diet for a growing baby: protein-free bread, biscuits, pasta, noodles, artificial cereals, mousses. Restrictions do not apply to diet in fat and carbohydrates. A child receives age norms fat by butter and vegetable oil, with a predominance of the share of the latter. Vegetable oil has choleretic action, has a laxative effect, increases the bactericidal properties of bile, but also contains polyunsaturated fatty acids, which are beneficial effect on the nervous system development. Sources of carbohydrates: vegetables, fruits, sugar, krahmhtosoder-containing products - lead to the child's diet is varied, tasty and nutritious.
The child should get enoughvitamins and minerals to create the most complete nutrition. An essential prerequisite is a thorough diet, control of feeding and frequent determination of the level of phenylalanine in the blood.
After 6 years, the diet is gradually increasing, butcontrol over the level of phenylalanine is. With age, the child understands how it differs from other people, and can consciously give up the forbidden foods, although it was not such a hard limit is required.
In the future - with hope
With the help of medical and genetic counseling risksick child birth can be reduced to zero. Currently, the identification of possible carriers of the abnormal gene prior to conception and diagnosis of the disease at an early stage of pregnancy.