Birth defects: Challenges and solutions

Dr. Giriraj Kusre

(Professor of Anatomy, Assam Medical College, Dibrugarh Phone: 9435034595)

In case a lady gets infected during pregnancy by a virus, bacteria, or parasite that is known to be strongly tertogenic, the option of terminating her pregnancy can be suggested.

3) Supplementation of vitamins and minerals

Deficiency of certain vitamins or minerals, such as folic acid or iodine, is known to cause birth defects; hence, supplementation of these vitamins and minerals should be ensured during pregnancy. The nutrition of a pregnant lady must be ensured not only by the lady herself but also by her family and the healthcare worker supervising her well-being. Anencephaly and cretinism are two types of birth defects that occur due to a deficiency of folic acid and iodine. During pregnancy, extra allowances of protein, vitamins, and minerals should be added to the diet, both for the mother and the developing foetus.

4) Treatment of the birth defect

Many a time, the birth defect is detected only after the birth of the baby; hence, a routine checkup for common defects such as heart defects or skeletal defects should be done. Defects such as ASD, VSD, PDA, dislocation of the hip, clubfoot, cleft lip and palate, spinabifida, etc. can be treated with 100% satisfaction when treated early.

5) Avoidance or supplementation of a substrate for a reaction

In cases of metabolic disorders, proper diagnosis of the disease must be done early in life, and the disease should be managed as per requirements. Phenylketonuria is a metabolic disorder caused by a gene mutation where the patient lacks the ability to metabolise the amino acid phenylalanine due to a deficiency of an enzyme called phenylalanine hydroxylase. A lifelong restriction on the intake of foods containing phenyl alanine can help the patient. In cases of congenital hypothyroidism, a lifelong intake of thyroxin can help the patient live a normal life.

6) Specific drug treatment

Nowadays, some specific drugs are available for the treatment of some birth defects. Drugs are now available for Pompes disease, or neuromuscular dystrophy. The drugs are very costly but effective. Developing a proper mechanism for the provision of these drugs, such as governmental subsidies, crowd funding, donations, and the active participation of NGOs and other philanthropic persons or organisations, can improve the life of the individual with these birth defects.

Government and social initiative

The first and foremost action that is needed to tackle any birth defect is to assess the exact magnitude, profile, and modifiable risk factors of the defect in society. The birth defect registry of India was started in 1993 under the aegis of the Foetal Care Research Foundation, with the idea of preventive, supportive, and curative care of birth defects for all strata of society in India.

Rashtriya Bal Suraksha Karyakram (RBSK) is an important government initiative aiming at early identification and early intervention for children from birth to 18 years to cover the 4 ‘D’s, viz. defects at birth, deficiencies, diseases, developmental delays, and disability. The basic idea of the programme is early detection and early intervention, so that corrective measures, wherever possible, are taken early. Early detection and intervention are carried out through screening at the community, facility, or anganwadi centre level. The children detected are referred to the district early intervention centre (DEIC), where they are given referral support.

In 2017, the ICMR set up a national registry for rare diseases to prepare a database of rare diseases in India. Under this initiative, the government of India identified centres and institutions for diagnosis and established Nidan kendras for screening, testing, counselling, and treatment (wherever possible).

Birth defects are seen less commonly in the community; hence, the person affected by these defects often feels isolated and lonely and has to struggle at every step. Social, mental, and financial problems are very common for the families of patients with birth defects. It is difficult to fight on all these fronts without support. One of the best methods to solve the problem is the formation of social groups of stakeholders.

Conclusion

Downs syndrome is one of the diseases that needs a social group to organize the parents of the patients so that they can come together and take care of their child. October is Down’s syndrome awareness month. The right to be treated fairly and to have the same opportunities as everyone else is the fundamental right of patients with Down’s syndrome. Let the month be utilised to form a society of self-advocates to spread the message of love, acceptance, inclusion, and respect.

(Concluded)