(Author's Note: Name has been withheld for privacy. The monikers Daedalus and Icarus, characters from Greek Mythology, have been used instead. Daedalus is a wise and resilient figure who does everything in his power to protect and support his child; his son Icarus’s story reflects the themes of striving against adversity and the consequences of inadequate guidance. Together, they try to escape certain confines and tragedy that hold them back.)

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At the age of just 4 months, Icarus had his first seizure. 

‘First time hume laga, yeh kya ho gaya hai?’ (The first time, we just thought, what is happening?)Daedalus recalls. During these seizures, Icarus’s eyes would roll back, he’d get high fevers, and his hands and legs would tighten. 

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Their immediate reaction was to take Icarus to the nearest hospital in their rural area of Araria Bihar, where he was admitted for 12-13 days. ‘Jab hospital vaalo ko samajh me nahi aaya toh woh bas dawa aur injections baar-baar dene lage’ (When the people in the hospital could understand what was going on, they just kept on giving the same medicines and injections again and again.), he says with frustration. 

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The lack of quality healthcare in their area brought them to a higher referral center in Delhi, where Icarus had his first genetic test. However, no action was taken even on the basis of the test, due to a lack of understanding of the significance of the results found. Consequently, the family returned to Bihar. This illustrates how lack of knowledge about how to interpret genetic tests amongst many doctors can result in inadequate genetic counseling.

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The full weight of this lack of awareness was felt 4 years later.

‘4 saal bihar me rehne ke baad maine dusre baby ke liye socha,’ (After 4 years in Bihar, I thought about having another child) Daedalus noted. Still cautious, they decided to visit a gynecologist first, to make sure that the second child would not have the same problems as Icarus. ‘Unhone kaha ki koi problem nahi hai, saari reports dekhne ke baad,’ Daedalus continues. 

Unfortunately, his second child was born with a similar condition.

A tired note creeps into his voice as he says, ‘Meri jaha jo mujhe samajh me aaya maine kiye, doctor ne jo mujhe jaisa kaha maine kiya…agar doctor ne mujhe galat suggest kiya hai voh doctor ki kami hai.’​ (Whatever I understood I could do, I did…if a doctor gave me incorrect advice then that is a lacuna on the part of the doctor).

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Recurrence of a genetic disorder remains a truly unfortunate case, due to it being largely preventable. It is oftentimes a result of wrongful counseling by doctors who do not have knowledge about such conditions, especially in more rural areas, with underdeveloped healthcare systems. Icarus and his sister’s story stands as a testament to  the need for greater education amongst relevant doctors, as well as more referrals to tertiary care centers that are equipped to deal with such issues.

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In the meantime, Icarus and his sister contend, heroically, with a varied set of problems. They have both been noted to have neurodevelopmental abnormalities. Icarus exhibits global developmental delays, such as lacking head control, eye contact, and comprehensible speech, alongside the seizures. MRI scans have shown severe cortical and cerebellar atrophy- degeneration of brain tissue, which leads to declines in cognitive and motor functions. Icarus's sister, on the other hand, has mild atrophy and no seizures, but faces similar developmental challenges.

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The family’s struggles are compounded by financial difficulties. ‘Meri jo bhi savings thi, 40-45 hazaar ki, woh ab tak sab khatam ho gayi hai’ (Whatever savings I had, 40-45 thousand, they are all finished.)The lack of advanced healthcare facilities in Bihar means frequent trips to Delhi, adding a significant financial burden. 

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But perhaps equally disquieting is the sense of loneliness and lack of support that this struggle entails. It is entirely characteristic of disorders as complex, difficult to diagnose and alienating as rare diseases are. Steel in his voice, Daedalus recalls, ‘Family members to mujhe delhi na aane ke liye suggest kar rahe the. Mai apni marzi se hi aaya hu.’ (My family members did not encourage me to come to Delhi. I have come out of my own will.) 

‘Aaj ke time me toh koi help hai hi nahi. Jo bhi karna hai mere ko akele hi karna hai. Support kuch nahi hai.’ (There is no help for me today. Whatever I have to do, I have to do myself. There is no support.) 

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Nonetheless, Daedalus is undeterred by this lack of support. He stands resilient, an embodiment of the sacrifices one must make and the strength that they must carry within when faced by such a situation. He has left his stable government job to take care of his children full time, in hopes that he can usher in a brighter future for them. 

‘Jab bache hi nahi rehenge toh kama kar kya fayeda?’ 

(If I don’t have my kids, then what is the point of earning?) ​