(Authors Note: Names have been withheld for privacy. The monikers Mannu and Kamu, nicknames affectionately used by the proband and her mother, respectively, have been used instead. )

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"It's… unexplainable," says Mannu’s mother, Kamu, when asked how she felt upon Mannu’s diagnosis with Propionic Acidemia at 9 months of age. She recalls that Mannu was a healthy happy baby till 6 months of age after which she started vomiting and refused to feed. ‘We were constantly consulting the doctors in our home city Pokhara, Nepal as she was becoming increasingly lethargic but was not been able to be diagnosed.  Then came the unanticipated shock when she started having seizures, had decreased consciousness, couldn't speak , couldn't sit . They said it is a  neurological condition, her brain has not developed. We could not believe- she was such a  bright responsive child! We shifted to Kathmandu: she was admitted to ICU- we were told that we might lose her. We had taken her to the doctor at the slightest suspicion of illness and had done everything that we were told- We failed to understand why even after 2.5 months there was no diagnosis. "The medical team advised us to take our child home, deeming there was no chance of survival, not even for few days. Despite the reluctance and discouraging counsel we faced at the hospital in Kathmandu, my husband and I made the difficult decision to take our baby to India, clinging to the faintest hope that she might still find treatment.

Upon our arrival at Apollo Hospital, several investigations were conducted, all of which initially appeared normal. However, in pursuit of rare and elusive conditions, further testing of urine and blood samples revealed elevated levels of ammonia. It was only after a comprehensive metabolic analysis that the diagnosis of Propionic Acidemia was confirmed." As the specific treatment was started , Mannu quickly started improving, there were no more seizures and she regained her consciousness.’

 

Propionic Acidemia (PA) is a rare genetic metabolic disorder. Individuals with PA cannot break down parts of protein and some types of fats due to a non-functioning enzyme called  propionyl-CoA carboxylase which occurs due to a mutation in PCCA and PCCB genes. This inability to break down propionic acid, causes damage to multiple organs including brain ( encephalopathy/ motor abnormalities/intellectual disability/ seizures ), kidney failure, heart abnormalities, even coma and death in untreated cases. The key is suspicion of a metabolic condition by simple blood test of serum ammonia, serum lactate, blood glucose and then confirmation by specialized tests to detect specific abnormalities like propionyl carnitine and gene test to detect the exact mutation. This was missed in Mannu’s case because of lack of awareness of rare disorders in physicians and also because of lack of reliable basic testing.  On the other hand, in most countries in the West, metabolic diseases can now be detected by an expanded newborn screen test at birth itself.

There is no medicine to reverse the genetic defect but patients are managed by a specific diet including low protein intake and specific food formulas (medical foods) in order to avoid accumulation of metabolites and subsequent organ damage.

Children remain at risk of attacks of worsening of symptoms during infection/ constipation/ non compliance with diet which should be managed according to the specific protocols. As many as half of the children have intellectual disability, neurologic dysfunction and other complications.

 

It has been 11 years now, and while their journey has been difficult, Mannu stands as a testament to the full life that can be lived, even when one suffers from a `rare chronic condition without any corrective treatment.’

With a small smile, Kamu says, ‘as she grew we weren’t sure whether she’d be able to communicate or learn properly, we were prepared for her special education but to our surprise she is very good at socializing, and making friends. She is able to manage her studies also and is an average student in a good school.’ 

With a note of pride, she describes a boxing course that Mannu did, a few months back; the message she is trying to put across is obvious- chronic diseases do not have to limit an individual, mentally or physically. Commitment and resilience lie at the heart of managing a chronic condition, and both Mannu and her family are symbols of that. 

 

'Even now after one decade, we neither have metabolic experts or dieticians nor reliable metabolic tests in our country for regular monitoring of her condition forcing us to travel to India every 3 to 4 months, often solely for essential investigations. She appeared to be in good health for years, but over the past three months, her condition has deteriorated significantly. She began experiencing lethargy, drowsiness, difficulty walking, and now is unable to walk or even stand on her own. So, they frantically again rushed to Apollo Hospital, Delhi where she has been following up since childhood. `Initially we tried to move to India closer to better healthcare facilities. But it is not that easy. We have stayed in hotels for months together.’ She adds, a poignant note in her voice, ‘No one is here in India. No friends, no family.’ She misses seeing her younger one, who is back in Nepal with relatives. Mannu’s situation therefore highlights the sacrifice that families have to be willing to make for the sake of better treatment.

 

Regardless, hope blooms in her chest. ‘If we are positive, and if we are hopeful, and if we pray to god, then nothing is impossible.’

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