Safeguarding the future of your child

Dr Arvind Lal

In India, just like its population, the disease burden is also increasing rapidly. Some of these diseases/disorders, however, can be controlled if diagnosed and treated on time. Poor mental and physical growth is one such problem, which not only affects the entire lifecycle of children but also causes a lot of trauma to the parents and family of the patient alike.

As a parent, being with your young child and observing him or her every day, you are in a unique position. You are your child’s first line of defence and it is up to you to monitor your child’s development and be sensitive to anything out of the ordinary. Doctors traditionally depend on a parent’s report in assessing a child, particularly because parents have information that others do not.

Some of these disorders are poor physical or mental growth, mental retardation and other mental/physical problems. In most of the cases, these disorders come without any apparent symptoms. These disorders are preventable. However, it has always been a challenge for the medical fraternity to predict such kind of diseases in advance.

Some of the conditions for which the diagnosis is done are: Congenital Hypothyroidism or CH This is a disorder that affects infants from birth (congenital), resulting from the loss of thyroid function (hypothyroidism), normally due to failure of the thyroid gland. This may result in abnormal growth and development, as well as slower mental function. Children born with these symptoms have a greater risk of developmental delay than children born without symptoms of mental retardation.

Phenylketoneuria: Phenylketoneuria (PKU) is a genetic disorder that is characterised by the inability of the body to utilise the essential amino acid, henylalanine. Infants with PKU appear normal at birth. However at a later stage, it causes severe brain problems, such as mental retardation and seizures.

G6PD Deficiency: G6PD deficiency leads to an abnormal rupture (breakage) of the red blood cells called haemolytic anaemia (abnormally low red blood cell count). G6PD deficiency is the most common known human enzyme disease, affecting 10 per cent of the world’s population. Many drugs like anti malarial drugs can precipitate haemolytic anaemia in patients with this deficiency.

Some other disorders, which can be screened are:

1) Galactosemia: This disorder occurs when a baby cannot break down the galactose part of the milk sugar. So in these cases mother’s milk can prove disastrous to the baby. In some cases, sepsis or death may also occur. Continuous build up of galactose can cause brain damage and in some cases death. If diagnosed earlier, special milk free diet prevents these problems.

2) Cystic Fibrosis: Cystic Fibrosis or CF causes chronic obstructive lung disease, airway infections and gastrointestinal abnormalities. Early detection and treatment can significantly improve the quality of life.

3) Maple syrup urine disease (MSUD): MSUD occurs due to body’s inability to metabolize branched chain amino acids i.e. leucine, isoleucine and valine. Poor feeding, seizures and mental and physical retardation characterise it. In its most severe form, it leads to death within a few weeks if untreated.

4) Congenital adrenal hyperplasia (CAH): CAH is a group of disorders, the most serious one being potentially fatal. For all classes of CAH, early treatment can greatly benefit the patient.

Doctors have experienced in the past that few newborns that appear normal at the time of birth grow up with physical disorders. Some of these disorders are poor physical or mental growth, mental retardation and other mental /physical problems. In most of the cases, these disorders come without any apparent symptoms. These disorders are preventable. It has however, always been a challenge for the medical fraternity to predict such kind of diseases in advance.

For the first time in India, Dr Lal Path Labs Pvt Ltd (LPL) has introduced neonatal screening test which does a host of mass screening of diseases in neonates. The test is meant to diagnose various disorders/diseases at the very beginning of it so that they can be treated well in time and child could lead a good normal life.

The test is done on the babies in the age group of 0-28 days. The sample can be taken in the form of a few drops of blood by pricking the foot sole of neonate. This sample can then be tested for approximately 37 diseases, which if found, may cripple the baby for life. However, these diseases can be prevented with adequate medical treatment and care. The complete test costs about Rs 3000, which is inclusive of all the tests stated above.

It is a small price to pay for the precious life of your child. Whether as a result of one of these tests, or even through simple observation, you suspect something is not as it should be, do not hesitate to mention it to your doctor. After the age of three, it is very difficult for even medical professional to make up for any delays in learning.

The writer is managing director of Dr Lal PathLabs Pvt Ltd, New Delhi