(Author's Note: Name has been withheld due to privacy concerns. The moniker Helen has been used as a reference to Helen Keller, a prominent historical figure who overcame her sensory challenges, and is a true symbol of resilience. The family has been referred to as T.)

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For the T family, the laughter and excitement of early parenthood were clouded with concern. At first, they brushed off their daughter, Helen’s delayed speech as something she would grow out of, but as months passed, it became evident that she wasn’t reaching the speech developmental milestones they had hoped for.

These signs were ambiguous; while some professionals suspected a speech delay, others were quick to assign more complex neurodevelopmental labels.

“We were referred to a child psychologist because of speech problems,” recalls the mother, “and after a really detailed evaluation, he diagnosed her with autism and ADHD.”

This was a conclusion that would come to shadow their path for some time, a misjudgment that would have profound consequences.

The story took a turning point with the birth of their second child, a son, who was non-verbal well past infancy. By this time, the parents were more aware and determined to find a definitive answer. When he was around three years old, a hearing test was finally conducted, and the results were staggering: severe to profound congenital hearing loss. This diagnosis for their son led the T family to seek similar testing for their daughter. The findings were consistent—she too had severe hearing loss that had gone undiagnosed for years.

“Her’s came out to be severe hearing loss too,” the mother explains, recounting the painful realization that Helen had struggled silently due to a missed diagnosis. The revelation underscored how a misdiagnosis in the first child not only delayed necessary interventions for her but also hindered the timely evaluation of their second child. 

Helen, now using hearing aids and undergoing therapies, speaks in sentences but still faces challenges with clarity. Her brother has had a cochlear implant and is slowly building his ability to join words.

The missteps in their diagnostic journey highlight not just the challenges faced by this family but a broader issue within the medical field. Misdiagnoses, especially early in life, can create a ripple effect that not only stalls crucial interventions but also casts a cloud over future medical assessments. “Nobody bothered to get a hearing test done for my daughter,” says the mother. “Probably because she was verbal but just speaking less so nobody suspected hearing loss...” This highlights how the differing severities of a condition can prevent it from being diagnosed accurately. Also, in this case secondary manifestations, as behavioral problems like hyperactivity due to underlying communication defects blurred the primary diagnosis of hearing loss and hence, the case highlights the need for more holistic evaluation for children with congenital problems.

The case also brings to light the nature of congenital hearing loss. While the family can have or may not have a known history of hearing impairment or neurodevelopmental conditions, congenital hearing loss is predominantly genetic in origin. Amongst genetic causes, Most of the isolated hearing loss cases are autosomal recessive, meaning that both parents unknowingly carry a gene variant that, when inherited by their children, leads to the condition. For families without prior knowledge of this genetic carrier status, the risk of recurrence remains hidden until a diagnosis is made—making early and accurate genetic evaluation critical to prevent further recurrence, which, unfortunately, could not be done in the case of this family.