(Author's Note: The moniker Durga, hindu goddess of power and strength, has been used as a symbol of toughness, resilience and drive. )

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‘I am the first person  in our family to be diagnosed,’ says Durga, with a note of deep satisfaction evident in her voice. Yet, there is also clear regret; for generations, due to being an autosomal dominant disorder and thus having a 50% chance of hereditary transmission, Hereditary angioedema (HAE) has plagued her family: her brother, father, aunt, cousins. Caused by a deficiency in C1 esterase inhibitors, HAE can result in attacks involving the upper airway, skin and, gastrointestinal tract. Specifically, as is in the case of Durga, HAE causes edema (swelling of tissues due to fluid build up), extreme sweating, diarrhea, feelings of choking etc. 

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Durga’s own diagnosis with HAE took many years. She’d been suffering from the disease since she was 3.5 years old. ‘Kolkata, Jamshedpur, Delhi, sab jagah doctors ko dikhaya tha par koi nahi pakad paya tha’ (Kolkata, Jamshedpur, Delhi, we showed doctors everywhere, but no one was able to diagnose it.’) This is oftentimes the case with many rare diseases, not just HAE; a lack of specialists and the limited knowledge of other doctors prevents timely diagnosis. 

In 2004, at the age of 12 years, when Durga was finally diagnosed in CMC Vellore, her family was  relieved. She was started on Danazol- an androgenic hormone, consumed orally-  and the attacks decreased in frequency. 

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Unfortunately, a gall bladder surgery in 2010 led to a worsening of the condition: ‘Uske [the surgery] baad mera sharir pura deteriorate kar gaya.’ (After it [the surgery] my body completely deteriorated.) Durga had to be admitted to the hospital every month due to severe edema and sweating.

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Opportunity came in the form of a new FDA-approved treatment- CINRYZE, an injectable prescription medicine that increases plasma levels of CI inhibitors, thus preventing excess production of bradykinin (a peptide that promotes inflammation) and subsequently reducing allergic attacks. Management of rare genetic conditions is often limited by the absence of drugs; HAE is one of the few for which an effective medication has been developed and approved. 

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Durga has now been taking CINRYZE injections for 6 months, and she talks about it with contentment. And the source of that contentment largely arises from the way the therapy has allowed her to focus on her work:  ‘Work pe bahut stress hai condition ka. Lekin pehle jaise mera work days pe bahut jyada pet dard hota hai, abhi woh sab nahi hai’ 

Durga is ambitious and her job is clearly at the heart of her life. Even when discussing her diagnosis, with a slight note of bitterness, she talks about how an early diagnosis and a subsequent early  treatment would have helped: ‘Ye to hamesha lagta hai kyunki mera career pura issi (HAE) ke upar depend karta tha; iske vajah se meri mummy bahar nahi bhej payi- na hi padhai ke liye humko bahar bhej paye, na naukri ke liye.’ (This is something I’ve always felt, because my career depends entirely on this [HAE]; because of this, my mother wasn’t able to send me outside, for studying, or my job.’ ) 

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She adds, `Vaha [office] par attack aa jayega to kaun dekh dega?’ (If an attack happens there [office] then who’ll take care of me?’ 

This highlights the continuing need for facilities that allow quicker diagnosis and beginning of treatment in individuals with rare diseases.

Regardless, as she continues to receive treatment, the attacks have gotten milder, their frequency lower, and the need to go to hospitals has reduced as well. It’s a step towards getting the life and career that she continues to strive for. 

Equally importantly, the accurate genetic diagnosis of HAE is crucial to preventing recurrence of the disease in future generations of her family, ensuring that nobody has to go through and overcome what she has. ​​​