By Vetrov, candidate for M.S, Kazantseva , M.S.C.
Simple sheet, like prescription, and on a top is stamp by Moscow pediatric and children s surgery, region for children s genetic, and 9 empty circles. Its a test, on the circle will apply blood drops by baby , after laboratory manufacturing,that is not simple, but special sheet will show, that baby is not having a hard genetical destroys for metabolism as phenylketonuria, or Hystidinemia, defect help recognizw bacterias is especial stamp of bowel stick received in institute by common genetic,which grows in especial environment aminoacids .Medical-genetical institute was organized a same checking for babies at Moscow labours, and 100 000 babies checked and found are 17 sicked. And its not insignificant percent and its not case,that these tests are checking many peoples quantities, and finding probably are less, is calling screening, as sifting. When sifting programm begun and of course doubts stayed, could we leave it? A lots of work in vain, less is practise exit , when you are imagining,thatb in a big common mass of healthy babies is found one case and having 100 percents for right, but for family is a one baby,thus for 100 percents. Sifting testing are keeping, when for baby put diagnosis for metabolism dissordering and cure prescribed and growing normally, but they are heard for in lag in mental development and hard somatic destroys.
Latest diagnosis is non sucess all therapeutic methods and disability, but need to search somebody,who saves, and if he is one from 100000.And other goal for centre is consulting, but its hard work giving real benefit. And we met in women, endured hard situation a dead for baby, and first-second, third are like healthy was born, but in all after milk feeding stayed vomiting, in all found inborn cataracta, and liver enlarging and they are all not ability to live and dead on the first months. And predispositions stayed,that al had genetical disease is galactozemia, that hard changes are affecting of absence in organism importance ferment,taking part in carbohydrates metabolism, thus here sugar absorbing hard as in milk lactose having, that is leading to long chain for dissorders. Thus in next pregnancy in mum s diet are limiting milk products, and baby used special meal with a limiting lactose. Diagnos as galactosemia was confirmed early, by thanks for diet are pathologic changes in his organism not found, he growing normal.
But lots of spouces are less oriented in questions for genetical predisposition, and baby with dissorder are leading to family conflicts, and accusations, leading to divorce. About a accusation question here not need staying, that in family somebody had genetical dieases or far relatives or from a family had misfortune to sick. We cannot to know about this, but knowing or assuming something is needing consulting with a doctor before marrying or becoming parents.
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