No matter how sad the reality of today, for anybody not a secret that many children today bring with them certain diseases, only appearing to the light of the mother’s womb. And medical doctors, and ecologists, and psychologists have long been sounding the alarm on the subject of completely healthy children in Ukraine are becoming less and less. The reasons are many bad ecology, unhealthy diet, the rhythm of modern life with a huge amount of stress, and partly as a result of all of the above increasing number of genetically determined diseases damage the genetic material in the human body.
Without going into the possible causes of mutations in humans (the impact of harmful environmental factors, drugs, disease during pregnancy, age of parents, etc.), focus on the result: diseases that are caused by them.
Genetically determined disease pathology are sometimes insidious many of them, quite different in its origin and further prognosis of the child, can have very similar clinical symptoms. Ie complaints from parents the same, for example, a young child is absolutely not gaining weight, vomiting does not stop, the rashes on the skin tortured, and diagnosis are fundamentally different.
In the above case, such signs can manifest as a congenital deficiency of disaccharides (enzymes responsible for the breakdown of sugars in the body), and early impairment of glucose tolerance. In this case, the described symptoms could be manifestations of quite different processes occurring in the body, and how accurately diagnosed their cause, depends on selection of therapy for your child, the further prognosis of disease development, quality and even in some cases a lifetime.
So usually the algorithm of examination of any child with complex or severe manifestations of metabolic abnormalities or severe structural anomalies of development of organs, after examination by all the specialists will be also sent to genetics. With the exception of those cases when the first specialist geneticist who is watching the baby still in the hospital there are anomalies that experienced doctors almost unerringly determine at first glance, the down syndrome, patau syndrome, Edwards syndrome.
Of course, still in these cases confirmation of the diagnosis may be just genetic research, but at least the diagnosis is made quickly. To understand how to proceed in cases when a genetic syndrome is masked, it is necessary to make a brief excursion into some aspects of modern genetics.
The main reason for every hereditary disease is a mutation, i.e. change taking place in different parts of the hereditary material. Mutations of the human genome is very diverse and are divided into several types.
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1. Gene mutations changes in the DNA structure of a gene
Gene mutations become malicious only when lead to the synthesis of defective protein, the change in the amount of normal protein or the formation of new protein with different properties of key importance in the matrix of the human body. Gene mutations are the cause of most diseases, inherited hemophilia, cystic fibrosis, phenylketonuria, hypothyroidism, hereditary muscular dystrophy.
If inherited disease, sex-linked, or transmitted by an autosomal dominant (50% chance of having an affected child, since the disease is transmitted from generation to generation), the mutation is not very difficult to identify because genetic analysis in several generations detected at least one case of the disease.
If the disease is transmitted in an autosomal recessive manner,in many cases, the diagnosis is much more difficult to deliver, because samne for several generations may not be working because the probability of having an affected child in these cases is only 25%,and then, provided that both parents will be carriers of the same abnormal gene. Unfortunately, such a feature is not for the benefit of patients an autosomal recessive disease characterized by very early onset, severe course, high mortality ( gene is in recession and on its the matrix or not a protein is formed, or formed a modified protein that cannot carry out its functions).
Therefore, in many countries, including Ukraine,there is mandatory screening of some of the most common types of such diseases are cystic fibrosis, phenylketonuria, hypothyroidism (many of his forms are inherited in an autosomal recessive manner). Curious fact that every person is a carrier of 3-5 autosomal recessive genes a serious hereditary disease, without knowing it, ie each person there is a 25% risk of having an affected child if the couple he would choose carrier of the same gene!
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2. Chromosomal and genomic mutations
Chromosomal and genomic mutations are changes in the amount of (genomic) and quality (chromosome) of individual chromosomes, i.e. structural components of cell nuclei containing DNA and for the transmission of cellular information from generation to generation. Naturally, the changes in these cells lead to an imbalance of genetic material, producing it excess or deficiency.
If chromosomal abnormality are balanced, i.e. the number of chromosomes is normal when you change their structure, change in phenotype is not as pronounced. If the same mutation is unbalanced, i.e. changes the structure and number of chromosomes, the effects of which are very serious diseases and malformations, found that 40% of spontaneous miscarriages occur due to chromosomal aberrations (pathological abnormalities) that are incompatible with life. Any healthy person has the risk of random chromosomal aberrations, i.e. violation of the fission process chromosomes, leading to changes in their quantity or quality, which can be born a sick child.
Unlike gene, chromosomal disorders are random failure and the family is only recorded single so sick. The risk of chromosomal and genomic mutations is much higher in women and varies with age after 35 years it increases.
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Mutations of germ or somatic (except germ cells)
This mutation, characterized by a change in the genetic material only in certain cells. If the modified reproductive cell joins in fertilization, this leads to a change of phenotype and the birth of a child with a specific genetic disease. In the future, such a mutation can be transmitted from a sick child to the next generations.
If mutated somatic cell, can be observed the phenomenon of mosaicism i.e. the part of the tissues in the body has a normal gene/cell kit, part changed. Described more than 30 diseases, which are characterized by mosaicism, the most famous of them is down syndrome, where the frequency of Mosaico is approximately 1: 48 among the total number of patients.
Based on these General principles, genetics determines what type of violations include the illness of a child. Accordingly, for the further Outlook is very important to understand which one of the three main types of disorders include monogenic disease (mutation in individual genes), chromosomal, or multifactorial. The last group depends on two starting factors as the presence of the defective gene responsible for the disease and the influence of external factors.
Type of illness of the child often determines:
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The symptoms of genetic disorders in the child
Given the wide variety of different forms of genetic disorders, only a trained geneticist can put the final diagnosis in each case.However, there are some points that parents should know.
- Write down all the symptoms which are observed in your child and bother you. Even if a symptom seems minor, it is better to announce it to the doctor than to knock him from the path of truth. Even frequent vomiting, which can be an ordinary consequence of swallowing air, in some genetically determined diseases (e.g., Barret’s esophagus, which can degenerate into cancer of the esophagus) can be a serious symptom.
- The doctor may ask you (and probably ask) additional questions which have as their object the establishment of causal relationships between external factors and manifestations of troubling symptoms your child has (e.g., weather conditions, food, drink, intake of certain medications, physical load, etc.).
- Try to trace these causal connections themselves, because nobody knows their child better than mom! For example, if he is rapidly gaining weight is there weight gain with any kind of lure, what lure weight gain more likely, if the mouth from time to time the smell of acetone, if there are convulsions when they appear at the temperature and increased anxiety (some neurological diseases), or some time later after a meal with a tummy ache, gas, diarrhea (glycemic convulsions when glycogenoses).
- Remember, if you have an external malformations and changes of the internal organs, the doctor will see there and on ultrasound, many causal relationships that are the most important element for differential diagnosis, i.e. the correct diagnosis by choosing the only true causes of two, three, twenty, nth possible, it can only be determined in conversation with the parents!
- Do not give up your studies, appointed by the doctor, and sometimes from their regular repetition. Many genetic diseases are insidious because the results of standard studies.do not give no way to diagnose! For example, one-time, high cholesterol standard in the biochemical analysis of blood, the child can be observed in extrahepatic jaundice, and exacerbation of certain diseases of the liver and pancreas, and just at the wrong diet skarmlivanii excess fat and sugar.
- But if under normal diet after six months and a year later the level of cholesterol remains high (with the exception of hypothyroidism and diabetes mellitus) this is the basis to assume one of the serious hereditary diseases, family hyperlipidemias, which without adequate treatment patients die at 40 -45 years from coronary artery disease and progressive atherosclerosis.Then a genetic analysis is done on the primary metabolic lipid analysis is expensive to immediately assign it to each child with high cholesterol levels, causes increase of which can be set.
- Unfortunately, many genetic studies are quite expensive, so they prescribe it when all other causes for the anomaly are excluded. But often even genetics takes time and repetition of certain tests (e.g., screening a glycosaminoglycan in the urine daily, the content of amino acids in urine and blood, etc…) to make a diagnosis.
- Waiting diagnosis you are in a position to help your child. Even under the most severe genetic diseases (for example, patau syndrome) there are many measures aimed at alleviating the symptoms of the disease selection of ingredients of food of appropriate consistency and age-appropriate, massage to avoid myopathies and contractures.
- If the baby has defects that require emergency surgery, you will be directed to the operation before the setting of genetic diagnosis there is no obstacle to correct diagnosis operation will not have,as all record of the primary condition of the child will remain in his medical card, but will save the child’s life. Pay attention to symptomatic treatment, it is recommended you observe the child specialist in some cases, it can even improve the course of the disease (for example, massage in some hereditary myopathies).
- After diagnosis, in detail ask the doctor about your condition,projections and prospects. But remember that genetics in most cases is responsible only for diagnosis, but no further observation of Your child. So find a good pediatrician, an education expert, but if your child has multi-organ (i.e., involving several organs and systems ) pathology of several specialized professionals who can give You expert advice and to monitor your child. Feel free to ask them questions if you already have information about your illness (from friends with a similar problem, over the Internet, from watching you, doctor) or, on the contrary, if the disease is so rare that information about it is not.
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Even if you have a country experience in the treatment of children with such disorders is very scarce, the world of medicine is not in place. For example, Marfan syndrome is diagnosed in us often and doctors could observe the patient, do a little, but in neighboring Poland there is a society of patients with Marfan syndrome with its site and practical recommendations on rehabilitation of patients and peculiarities of their development, which should be paid close attention. Read non-fiction (and sometimes medical literature to ask, it will be useful) for your case, search for information through the Internet, parent and community forums.
Most importantly of all this is not to forget to consult with your doctor on the issue of the suitability of a particular method of treatment for Your child! Remember that there are methods scientifically proven to work, able to facilitate the course of even the most serious hereditary diseases, there are new methods that are only in the research phase, but there is just quackery.A person without special medical education, and especially the mother, 24 hours a day caring for a child requiring special attention, it is very difficult to make sense of all this so as not to waste time, money, and most importantly to help and not to hurt the baby. A qualified specialist, watching you, will help you to separate the wheat from the chaff.
And remember: at the direction of the child to genetics it is not necessary to panic! Genetic disease is a severe pathology with the inevitable first death, the inevitable disabilities and a sharp deterioration in the quality of life of your child. Many patients with hereditary diseases thanks to advances in modern medicine lead a full life, a little different from the life of a healthy person. It is only important to properly diagnose and timely start possible in your situation the treatment.
Author: Wilczynski Tatiana
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