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Research reveals that most of the common illnesses children suffer after birth have a long-running history in the family. In most cases, either one parent or both carry the trait for the genetically transmitted abnormality. Babies that have parents with these traits have at least a one in four chance of inheriting that condition.
You can conduct genetic tests to determine whether you carry the traits for these diseases. The tests are also available for pregnant mothers who wish to know their health status and whether they may have anything that could potentially be passed on. Similarly, there are screening tests for infants that provide crucial diagnoses on many of these congenital disorders.
A genetic disease is any illness brought about by an abnormality in an individual’s genetic makeup, which may occur in many forms, depending on various factors. Most children inherit genetic illnesses from their parents. However, there are also acquired changes or mutations in a pre-existing gene or group of genes that may cause other congenital defects.
The common genetic illnesses that run in the family can occur either randomly or due to environmental exposure. For instance, conditions like Talipes / Clubfoot have an unknown cause but occasionally run in the family.
The condition results from a foot abnormality in which the foot points downward and inward. Children suffering from Talipes/Club Foot often exhibit signs at childbirth, with the foot and lower leg being the most affected organs. You’re most likely to see it in a male child more than a female.
Symptoms such as stiff and rigid feet are common in kids experiencing this condition. They also exhibit signs of short or tight Achilles tendon, with the foot pointing downward. If you already have a child diagnosed with the disease, there is a higher likelihood you’ll have other children with a similar condition.
Besides Talipes /Clubfoot, other conditions run in the family, such as sickle cell anaemia. Conditions like congenital hypothyroidism and congenital hearing loss are also common hereditary conditions. Here is a breakdown of all the conditions you may want to know.
The condition is caused by a gene mutation, affecting the cells that produce mucus, sweat, and digestive juices. A child suffering from this condition has thick mucus that severely damages the respiratory, digestive, and reproductive systems.
If your child inherits only one copy of the defective gene, they are carriers and may not necessarily experience the symptoms of the illness. The disease is only inherited at a 25 per cent rate when both parents have the Cystic Fibrosis gene.
According to the latest statistics, more than 30,000 people are living with the condition in the US. There are also more than 70,000 Cystic Fibrosis patients worldwide. Children with this disorder are mostly diagnosed with persistent lung infections, which limit their ability to breathe over time.
Phenylketonuria is a rare genetic disorder that inhibits the body from using a vital amino acid called phenylalanine. As a result, the unused phenylalanine builds up in the body resulting in a toxic compound that affects the central nervous system.
If your baby suffers from phenylketonuria, they’ll develop early symptoms like vomiting and irritability. They may also experience increased muscle tone and more active reflexes of the muscle tendons. It would help if you found early treatment for the disorder to avoid symptoms like severe intellectual disability, seizures, and decreased body growth.
You can easily have a Phenylketonuria diagnosis using a simple blood test shortly after childbirth. For a newborn baby, screening of the phenylalanine levels should happen three days after birth. Treatment involves eating foods with low phenylalanine levels. You should also avoid feeding your children foods with high amounts of phenylalanine like eggs and milk.
Thalassemia is associated with abnormal production of haemoglobin in the red blood cells. The child suffers from anemic conditions more often when diagnosed with the disease. It is in three groups of thalassemia major, thalassemia intermedia, and thalassemia minor. The latter may have no visible symptoms at all.
Thalassemia is hard to detect since children suffering from the condition are usually well at birth only to develop the symptoms later. These symptoms include fatigue, headaches, shortness of breath, and enlargement of the spleen. If left untreated, Thalassemia is deadly, and the child may not survive beyond eight years.
Its primary treatment involves a blend of antibiotics and, at times, blood transfusions. These transfusions keep the haemoglobin level near normal to prevent the further spread of anaemia. They also enhance the child’s growth and health. However, severe cases of Thalassemia can only find a cure with a bone marrow transplant.
Congenital adrenal hyperplasia (CAH) refers to a disorder that is heavily related to the adrenal glands. The disease results in a condition where there’s an overproduction of androgen. For that reason, the children will grow very fast at their early stages but later on experience stunted growth.
When it occurs in boys, other side effects such as an enlarged penis and the development of male secondary sexual characteristics are common. In girls, these secondary sex characteristics associated with males will also develop. On top of that, they may also have a large clitoris and other deformities on their sexual organs.
There exist medications that can control these cases of unusual development. In most cases, many parents prefer surgery to correct the problem. However, the condition can also be put under control through hormone replacement therapy to neutralize the overproduction of male hormones. Severe cases of Congenital Adrenal Hyperplasia can inhibit the body from retaining salt resulting in a potentially life-threatening condition.
Tay-Sachs disease (TSD) is a genetic disorder that may have a fatal ending if not treated early enough. The condition is linked with the progressive destruction of the nervous system in infants early in life. It occurs due to gene defects leading to the absence of a vital enzyme called hexosaminidase-A (Hex-A).
Like Talipes/ Clubfoot, Tay-Sachs has a 50% transmission rate if you’re a carrier of the defective gene. If the child gets a defective gene from both parents, they’ll suffer from the disease symptoms. However, if they inherit one defective gene, they become a Tay-Sachs carrier without suffering from the symptoms.
Genetically inherited disorders are among the leading causes of death among children below the age of ten. Today, about 6% of worldwide births result in children with severe congenital disabilities. The reasons for over 50% of congenital disabilities are unknown. This means we should all understand our underlying genetic conditions to stay prepared for what could potentially lie ahead.
Welcome to Birds and Lilies! I'm Lou: mother, blogger and freelance writer. This is my lifestyle blog, where I talk about motherhood, infertility and IVF, beauty, my love for food and wine, as well as my thoughts about stuff, and our real-life and travel adventures.
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