Congenital birth defects are a major cause for infant mortality worldwide. As per the recent newsletter of WHO, an estimated 2,95,000 newborns die within 28 days of birth every year, due to this. Identifying the birth defects in the initial stage and treating them early can help in effective treatment and faster recovery of the child.
Recently, Columbia Asia Hospital Hebbal saw a case of 1-year-old boy Nitin (name changed) who was suffering from congenital hearing loss due to a rare genetic disorder Waardenburg-Shah (type 4)syndrome. Since birth, he was not able to hear or respond to sound and could not speak as well. Successful implementation of a cochlear implant at the age of 1 helped the boy hear and enjoy sounds for this first time in his life and develop speech.
Nitin, had attracted a lot of attention from everyone due to his beautiful blue eyes, a by-product of his rare genetic disorder. Immediately after the birth, Nitin was diagnosed with Waardenburg-Shah(type4) syndrome.
Waardenburg-Shah (type4)syndrome, is a rare genetic condition less than 10 cases reported in India, that can cause hearing loss; changes in coloring (pigmentation) of the hair, skin, and eyes; and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. Less than 10 cases of babies with this syndrome are reported in India. Probably he is the first child to undergo cochlear implant in India with Waardenburg-Shah syndrome.
Nitin turned One year-old and not responding to surrounding sounds, that’s when his parents consulted Dr. Santosh Shivaswamy, Senior consultant ENT & Cochlear Implant Surgeon for a solution.
Explaining Nitin’s condition, Dr. Santosh Shivaswamy, Senior consultant ENT & Cochlear Implant Surgeon said “For one year Nitin could not hear any sound due to the congenital hearing loss. Since the scans and MRI revealed that his cochlear and auditory nerve structures were normal, we decided to put superpower digital hearing aid for both the ears. We also began listening training sessions for him. Since he was not still responding to sound we counselled the family and they decided to go ahead with a cochlear implant. Surgery was performed for the right ear and finally the child was able to hear sound for the first time in his life. He is now undergoing Auditory Verbal Therapy and recovering.”
While most babies are born healthy, genetic condition, family health history, age of the mother can cause congenital birth defects. With advancements in health care, many birth defects can be diagnosed before birth with good accuracy. Birth defects can either be cured completely through various paediatric surgeries or its impact can be reduced to a large extent.
Nitin’s parents were happy to see the outcome in their baby. Thanking the efforts of the doctor, Nitin’s mother said, “Our son is finally responding to us when we call him by his name for the first time. This is one of the happiest moments for us! Although we were aware of the genetic condition of our son, we were scared whether he will be able to overcome his hearing problem. The doctors at have made it possible for him.”
Timely surgery helped Nitin to overcome his hearing problem.” Performing surgery before the age of 3 years always helps restore both speech and hearing” in babies with congenital hearing loss. If treatment is delayed, the results of the surgery and speech outcome may vary.
Currently Nitin has recovered from his surgery and undergoing the necessary training sessions. He loves listening to music!