(Author's Note: Names have been withheld due to privacy concerns. The monikers Ganesha and Shiva have been used due to the strong father-son relationship seen in this family.)

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This family’s story began with the promise of joy—twins born through natural conception in a small town in Uttar Pradesh. Ganesh, the little boy, entered the world alongside his sister, who thrived as any healthy baby girl would. But for Ganesh, life from the very start was a series of challenges.

When Ganesh was around 10 days old, his parents noticed something unusual. He began twisting his neck with jerky, clonic movements. The episodes became frequent, and within days, Ganesh was diagnosed with seizures. He was promptly put on anti-epileptic medications, which controlled the seizures for a while, but they never truly went away. By six months of age, he wasn’t growing as he should. He wasn’t meeting developmental milestones, and his weight stayed alarmingly low. This "failure to thrive" loomed over every anxious moment.

Ganesh’s parents were desperate for answers. Shiv, the father, a plant pathologist by profession, had a scientific mindset and wasn’t fully convinced by the explanations the local pediatricians provided. The local doctors  attributed Ganesh's condition to complications often seen in twin pregnancies or potential birth issues and gave the diagnosis of Cerebral Palsy.  For a long time, the new parents were plagued by guilt. They couldn’t help but wonder: Did they make the wrong choice by having their twins in a smaller hospital? Should they have sought care in a more advanced center, even though the delivery itself went smoothly?

But Shiv’s scientific curiosity and skepticism didn’t let him settle for this diagnosis. “Humne socha ki humara bachcha theek se roya tha, birth pe ekdum theek tha, toh delivery complications mein oxygen supply brain mein kaise kum ho gaya,” (We thought that our child cried properly, was completely fine at birth, so how did delivery complications lead to a reduction in the oxygen supply to the brain?), he shared later. 

The family eventually sought help from a pediatric neurologist who suggested a different approach: What if Ganesh’s condition wasn’t about birth trauma at all? What if it was something deeper, something hidden in his genes? The neurologist recommended whole exome sequencing to uncover the true source of Ganesh’s condition. It was a leap into the unknown, a hope for a concrete answer after months of doubt and distress.

The results confirmed the neurologist’s suspicions. Ganesh was found to have a variant in the ARX gene, a gene linked to a rare, severe form of epilepsy known as developmental and epileptic encephalopathy-1 (DEE1). The disorder closely mimicked cerebral palsy, manifesting through seizures, dystonic posturing, and developmental delays. However, the diagnosis left the family in a peculiar place—the genetic variant found was labeled a “variant of uncertain significance,” meaning its exact role in Ganesh’s symptoms was not yet clear.

Rather than becoming disheartened, Shiv's scientific approach came to the forefront once more. 

Geneticists suggested that since this was X chromosome linked gene, to get definite clarity on the variant, they should test other unaffected healthy male members from the mother’s side. “Humne socha hum try karenge ki bachche ke mamu se blood sample mein same mutation test ho jaaye, (We thought that we can try to use the child’s mamu’s blood for the same mutation test.) ” he insisted. “Humein diagnosis pata chalna zaroori tha, treatment hai ya nahi woh baad ki baat hai. (It was important to us that we get a diagnosis; whether there’s a treatment or not is a concern for later)”  

So, the family proceeded with targeted genetic testing. The results were conclusive. Ganesh’s  mother, was found to be a carrier of the ARX gene mutation. Her brothers, who had no symptoms and were perfectly healthy, tested negative for the mutation. With this information in hand, the Genetics team was able to reclassify the genetic variant as “likely pathogenic,” solidifying Ganesh’s diagnosis as DEE1. The long and emotionally draining quest for answers had finally come to an end.

Armed with this knowledge, the family received tailored counseling to plan for the future. They learned that, due to the X-linked nature of the condition, there was a 25% chance of recurrence in future pregnancies. But with a definitive diagnosis came a sense of relief and empowerment. The family could now make informed decisions, not just for Ganesh, but for any potential siblings.

The diagnosis, while bringing closure, also opened doors. With a clear understanding of the condition and its genetic origins, the  family could access the right support systems and begin to plan the next steps for Ganesh’s care, his therapies, and their future family planning. Knowledge as the ultimate power…