Newborn babies are a vulnerable population and can be affected by various diseases. While some conditions are common, easy to diagnose, and have established curative treatments, there are instances where infants may present with rare conditions within the first few days or weeks of life. Identifying these rare conditions requires a high level of suspicion and vigilance.
It is important to note that approximately 80% of these rare diseases have a genetic origin, making children a significant proportion of individuals affected by such conditions. Timely diagnosis and early initiation of treatment are crucial, as the consequences of delayed intervention can result in permanent developmental issues or even mortality.
Out of 8000 rare diseases identified so far, around 450 have been identified in India. As per World Health Organization (WHO) the rare diseases affect 1 in 2000 people, therefore affecting around 30 million people in India.
The burden of infant mortality is significantly increasing due to these diseases. If the required nourishment is not given or treatment is delayed, the affected children will be at a higher risk of developing mental retardation, epilepsy, and severe deficiencies that may even cause death. Some of these diseases found among Indian babies include:
Congenital adrenal hyperplasia (CAH): It is a rare hereditary condition that affects the adrenal glands. These glands create hormones that control a wide range of body activities, including metabolism, blood pressure, and stress response. Individuals with CAH have a deficiency in one of the enzymes needed to produce these hormones, resulting in a disruption in the balance of hormones in the body. The early symptoms of CAH depend on the type and severity of the condition. However, some of the early warning signs include dehydration, vomiting, low blood pressure, poor weight gain, and hyperpigmentation.
Maple syrup urine disease (MSUD): It is a rare genetic disorder that affects the body’s ability to break down certain amino acids found in proteins. These amino acids, leucine, isoleucine, and valine, build up in the blood and urine, leading to serious health problems. Vomiting, trouble lifting the head or sitting up, jaundice, and abnormal body movements can be some signs to watch out for.
Galactosemia: It is a rare disease in which the body is unable to break down galactose, a type of sugar found in milk and other dairy products. This inability to metabolize galactose leads to an accumulation of harmful substances in the body, which can cause serious health problems if left untreated. The symptoms of galactosemia typically appear within a few days after birth, as the baby begins to consume milk. Frequent vomiting, diarrhoea, jaundice, and poor feeding are some of the warning signs.
Phenylketonuria: It is a genetic disorder that affects how the body breaks down a specific amino acid called phenylalanine. Normally, the body converts phenylalanine into another amino acid called tyrosine, but in people with PKU, this process doesn’t work properly. As a result, phenylalanine builds up in the body and can cause brain damage and other health problems if left untreated. Some of the early symptoms of this disease include a foul smell from the skin, hair, and urine; delayed motor skills, speech, and cognitive abilities; seizures; skin rashes; and eczema.
Apart from these, some other rare diseases that can affect the baby include Duchenne muscular dystrophy, spinal muscular atrophy, Wilson’s Disease, cystic fibrosis, intellectual disability, skeletal dysplasia, and Beta thalassemia. Early detection and treatment of rare diseases in new-borns are crucial for managing the condition’s symptoms and ensuring the baby’s proper growth and development. New-born screening tests can help identify these rare diseases, allowing for early intervention and treatment.
Premarital counselling in high-risk populations, prenatal diagnosis in high-risk pregnancies, avoiding consanguineous marriage can play an important role in decreasing the babies born with these diseases.
Parents and caregivers should be aware of the signs and symptoms of these rare diseases and work with their healthcare provider to ensure their new-born receives appropriate screening tests and care. With early detection and treatment, many of these rare diseases can be managed, allowing the baby to grow and develop to their full potential.
Dr Poonam Sidana is a pediatrician.
