Rare Disease Day: Challenges in protecting newborns from rare growth-affecting conditions

Rare Disease Day is observed annually on the last day of February (February 29 in leap years and February 28 in non-leap years) to raise awareness about rare diseases and their impact on the lives of those affected by them. 

Policymakers, researchers, and healthcare professionals must come together and advocate for better research, treatment, and support for those living with rare diseases. 

What are rare diseases? 

World Health Organization (WHO) defines rare diseases as a debilitating or lifelong disorder with a prevalence of 10 or less per 10000 populations. 

There are around 300 million people who have been diagnosed and live with a rare disease. There are over 7,000 known rare diseases with 70 per cent of these disorders being genetic in origin, but allergens, infections, and environmental factors can trigger them. 

A few examples of rare diseases are Phenylketonuria, Congenital Myotonic Dystrophy and Niemann Pick disease, Gaucher's disease and Primary Immunodeficiency disorders. All these disorders affect growth in some way. 

Safeguarding newborns from rare diseases 

To know more about the day and its significance, WION got in touch with Dr Radha Rama Devi, MD (Peds), Cert in Genetic Engineering, Fellow in Inborn Errors of Metabolism (UK), Pediatrician - Genetics at Rainbow Children's Hospital, Banjara Hills, Hyderabad. 

Dr Rama Devi weighed in on safeguarding newborns from rare growth-affecting conditions. She said that the term faltering growth in newborns includes faltering height, weight and development delay and if it is unrecognised and untreated, it can have adverse consequences for a child's health and development. 

Rare diseases, also known as orphan diseases, are conditions that affect a small percentage of the population. Despite their rarity individually, and collectively, rare diseases affect millions of people worldwide. 

Approximately five per cent of the newborns with faltering growth will have an underlying organic cause — a medical condition causing defective growth and development, she added.  

"Large numbers of rare diseases are reported to cause neonatal growth retardation. These include rare genetic disorders involving the chromosomes, single gene and mitochondrial defects and congenital birth defects. Down syndrome is the highly prevalent common chromosomal defect associated with physical and mental retardation," Dr Rama Devi said. 

"Single gene defects include a number of inborn metabolic disorders of small molecule- those genetic defects with impaired metabolism of amino acids, organic acids fatty acids. Congenital birth defects involving the heart, kidney etc can result in growth failure in neonates," she added. 

How to prevent it? 

Dr Rama Devi said that it is important to understand the pathophysiology of these rare diseases and technological advances to identify the defects in the newborn. It is now possible to safeguard the baby through early detection and intervention by implementing newborn screening (NBS) of every baby born for treatable rare diseases. NBS is now considered one of the top ten preventive public health programmes in the world. 

Dr Preetha Joshi, Neonatal and Pediatric Intensivist, Kokilaben Dhirubhai Ambani Hospital, Mumbai told WION that regional screening programmes like the newborn screening blood test for metabolic disorders, can be specifically tailored to clinical and laboratory detection of rare diseases. 

"Telemedicine and global collaboration is the need of the hour so that patients can connect with superspecialists from any part of the world for confirming diagnosis and receiving the optimal treatment," Dr Joshi said. 

Dr Deepak Mulchandani, Consultant Pediatrician at PD Hinduja Hospital, Khar, Mumbai, told WION that raising awareness and forming support groups can be helpful for patients and families. He added that support groups have been successful for diseases like Down syndrome and Fragile X Syndrome in India and abroad. 

Treatment options are limited for most rare diseases, with supportive therapy being the only available option, Dr Mulchandani said. 

He added that drug therapy is available but is often costly and at present out of reach for most diseases. Often, such diseases have severe morbidity and even mortality, thus multidisciplinary team of specialists is needed to address the health concerns of patients suffering from rare diseases.

What are the challenges? 

Dr Mulchandani said that "due to variable nature of presentation and unavailability of tests except at tertiary levels such rare disorder are difficult to diagnose and hence often missed" and this leads to distress to the patient and their family and poses a challenge to the treating physician. 

Dr Joshi listed some of the challenges that are being faced: 

Delayed detection: Since the awareness among doctors is also only slowly increasing, these diseases might get missed due to the symptoms and signs being neither overtly obvious nor specific. Access to advanced genetic testing is also primitive or non-existent in many places. 

Limited treatment options: For some of these diseases, the therapies are prohibitively expensive. Even when the right diagnosis is made early, there may be no treatment available to cure it. 

Lack of nationwide policies: These policies can help patients and their families to continue care. 

What India is doing to address this issue? 

Indian health ministry launched a new initiative, Rashtriya Bal Swasthya Karyakram (RBSK), which aims at early identification and early intervention for children from birth to 18 years to cover 4 'D's viz. Defects at birth, deficiencies, diseases, development delays including disabilities. 

Similarly, antenatal screening in the first trimester with proper fetal ultrasound can detect some of the chromosomal defects and should be provided to all pregnant women. 

National Inherited Diseases Administration (NIDAN) Kendras were set up in India by the Government for screening of pregnant women and newborn babies for diagnosis of inherited genetic diseases and providing them with comprehensive clinical care.