Some parents feel guilty when a child is born to them with a hereditary disease, and this feeling intensifies when the parents are relatives of each other (i.e. when they are related by blood), and this is due to their mistaken belief that the marriage of cousins increases the possibility of them having children with hereditary diseases at a high level, but This percentage does not reach 100%.
Parents always hope to have healthy children, but all newborns have the chance of suffering from multiple defects or congenital problems. The word “congenital” has a special meaning for doctors, as it means defects and deformities that occurred during the formation of the fetus (meaning that they appeared at birth or after it).
The probability of a child being born with a birth defect is 3% for all births (that is, in every 100 births, there are 3 children with a birth defect).
When referring to newborns born to parents related by race or kinship, the incidence of birth defects reaches 4-6%, meaning that it is twice as high as newborns born to parents close to each other by lineage. We can conclude that these numbers do not in any way reach the global numbers that some people (and some doctors) mistakenly believe that consanguineous marriage inevitably leads to the birth of a child with birth defects.
The most common hereditary diseases among married relatives are diseases that doctors call diseases transmitted through recessive inheritance.
The reason for this is the increase in the chances of unhealthy genes being transmitted from one of the common grandparents between the parents. This unhealthy (defective) gene is passed from that grandfather to his children and then to the grandchildren. If these two grandchildren marry each other, each of them may give the defective copy to one of his children. Upon fertilization, this child will have two defective genes, leading to the occurrence of a hereditary disease whose type varies depending on the type of gene transmitted.
It is worth noting that even in diseases transmitted by recessive inheritance, the recurrence rate of the disease in the family is never 100%, but reaches 25% in each pregnancy. There is no doubt that each of us carries some defective genes, which we can therefore pass on to our children and offspring. Therefore, doctors, especially genetic doctors, are interested in taking a medical history from the rest of the family, such as brothers, sisters, uncles, aunts, uncles, aunts, and other relatives.
A geneticist can determine the pattern of transmission of a hereditary disease from one generation to another from the information he obtains about the family tree. He may need to conduct some tests on the family members or perform some medical tests to discover some diseases in which the symptoms are unclear or mild and there are no complaints. Of which the person.
The role of the geneticist is to explain the options available to them without interfering in their final decision, so it is very important to be accurate and frank when providing medical information about your family.
Bad and fluctuating between them, or the loss of one of the abilities or skills that the child had mastered, for example, his loss of sitting or holding things, or loss of vision and deterioration in mental abilities. This fluctuation or loss of skills may be the important key to diagnosing the condition, which helps the doctor to conduct the necessary tests to confirm the diagnosis. Here are some other symptoms:
Lethargy and coma.
Muscle relaxation.
Seizures and epilepsy, especially those that are difficult to treat with medications.
Epilepsy.
Apnea, difficulty breathing, or rapid, deep breathing.
The occurrence of blood poisoning, especially caused by E. coli bacteria.
The appearance of a strange odor from the body.
(Jaundice) yellowing of the skin color.
Change in facial features.
Enlargement of the liver, spleen, or both.