The babies were admitted to a private Hospital in Khurda, located 40km away from Bhubaneswar, and were a case of suspected inborn error of metabolism (a genetic disease) with a poor chance of survival~

~Twin babies were shifted to Ankura Hospital, Bhubaneswar for prompt management. Inborn Errors of Metabolism affect an estimated 50.9 per 100,000 live births and are responsible for 0.4% of childhood deaths worldwide 

~ Early detection through advanced genetic testing and management is crucial in managing these disorders preventing serious complications and improving outcomes for infants~

Bhubaneswar: A multidisciplinary team led by Dr.Bichitranand Raut, Consultant Neonatologist & Pediatrician, Dr Ajaya Kumar Gahan, Consultant Neonatologist & Pediatrician, Dr Subhranshu Sekhar Dhal, Consultant Pediatric Intensivist & Pediatrician and Dr Priyabrata Panda, Consultant Pediatric Intensivist successfully saved twin babies who had a rare genetic illness, marking a significant advancement in medicine. The twins needed specialist care and quick intervention due to their diagnosis of Inborn Errors of Metabolism. Using state-of-the-art technology and novel medical approaches, the highly qualified medical team at Ankura Hospital worked nonstop to create a customized treatment plan for the babies.

After two elder daughters, couple Rakesh and Rima Nayak (name changed)* from Balugaon were overjoyed to have their twins (boys). Their brief period of happiness was soon followed by a nightmare when the infant began to show signs of an uncommon genetic disorder known as an inborn error of metabolism. The parents were given information about the hereditary condition known as the Inborn Error of Metabolism and the slim survival rate if proper and prompt treatment was not received. The two newborns needed assistance from a ventilator. The parents phoned Ankura Hospital in Bhubaneswar after realizing the necessity. Drs. Ajaya,Dr Bichitrananda and the sisters Soubhagyalaxmi and Supriya carefully transported the two babies to Ankura Hospital to preserve their lives and enhance their quality of life.

“When they arrived, 1 baby boy weighed 1600 grams and the other baby boy weighed 1900 grams, were critically ill, and had no spontaneous breathing or movement. They were moved right away to the NICU and put on mechanical ventilation. After admission to the NICU routine tests for infection, blood gas, electrolytes, and Inborn Errors of Metabolism screening were done,” said Dr Bichitranand. 

“We assumed the babies had inborn errors of metabolism based on the clinical history they had given us from birth. These errors are thought to impact 50.9 out of every 100,000 live births and account for 0.4% of pediatric fatalities globally. Babies with inborn errors of metabolism, which are complicated and frequently life-altering disorders that can provide difficulties for both patients and specialists, are affected in normal metabolic processes, usually as a result of an enzyme or transporter deficit. These genetic disorders cause the body to mismetabolize carbohydrates, proteins, and fats, which impairs the body’s capacity to convert food into energy. This can result in a variety of symptoms that are challenging to identify and treat. Every disease presents differently and calls for a different kind of care and attention. Different kinds of hereditary metabolic diseases are often brought on by different gene alterations. Either one or both of the parents—usually the mother—carry these altered genes onto the following generation,” Dr Bichitranand.

“Amino acid disorders, lysosomal storage disease, phenylketonuria, organic acidemias, peroxisomal disorders, mitochondrial disorders, glycogen storage disorders, and urea cycle disorders are the common inborn errors of metabolism, listed in order of incidence. To manage these problems, early diagnosis is essential because timely intervention can help avoid significant consequences and improve the outcomes of affected newborns. Thanks to developments in genetic testing, it is now simpler to diagnose these illnesses at an early stage, which enables medical professionals to customize treatment regimens to each patient’s unique requirements,” Dr Bichitanand “Both babies were successfully taken off the ventilator after twenty-four hours, and they were off oxygen assistance within forty-eight hours. On the sixth day, the babies were allowed to go home. They also experienced financial difficulties, and Ankura Hospital offered the family assistance. Four days following release, follow-up care was scheduled. Surprisingly, on the eighteenth day of their lives, both babies were healthy and doing well at the follow-up. Negative consequences, including death, might have resulted from delaying the babies’ medical care,“Dr Bichitanand.

Dr. Bichitra and Dr Ajaya emphasized, “This demonstrates the commitment and effort of Ankura Hospital in saving the lives of these two adorable babies.”

“The twin newborns’ amazing recovery not only demonstrates the extraordinary skill and commitment of Ankura Hospital, but it also shows how cutting-edge medical treatment can conquer even the most difficult genetic disorders. This extraordinary achievement gives families dealing with hereditary illnesses hope by demonstrating that there are options for efficient treatment and better results.  According to doctors Bichitra and Ajaya, “The heartbreaking tale of these twin babies highlights the significance of specialized healthcare facilities like Ankura Hospital in providing life-saving interventions that can have a profound impact on patients’ lives and well-being,”.

“It was an emotional rollercoaster to learn that our twin infants had inborn metabolic errors at birth. Our babies received life-saving care at Ankura Hospital. The medical staff’s commitment to providing us with kind and knowledgeable guidance at every turn was impressive. It was nothing short of a miracle to watch the twins overcome their fight against this uncommon ailment, which was made possible by the hospital’s advanced technology and skill. The hospital’s dedication to providing high-quality healthcare was demonstrated by the individualized treatment designed to satisfy each baby’s specific needs. The twin’s father stated, “We will always be thankful to Ankura Hospital for allowing us to watch our twins grow stronger every day, defying all odds, and inspiring us with their resilience,” concluded the father of the babies Rakesh Nayak (name changed)*.