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How personal battles prompted families to set up rare diseases group
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How personal battles prompted families to set up rare diseases group

The Organization of Rare Diseases in India was formed in 2013 to focus on guidance, genetic counselling and policy matters related to more than 7,000 rare diseases
The Organization of Rare Diseases in India was formed in 2013 to focus on guidance, genetic counselling and policy matters related to more than 7,000 rare diseases
Participants at a ‘Race For 7’ event in Bengaluru, in February 2023. Photo by Anantha Subramanyam K / Happiest Health

It took Nidhi Shirol’s parents seven years and visits to more than 40 hospitals to get the right diagnosis of her condition.

Nidhi’s was reportedly the first Pompe disease case in India. Diagnosed in 2007, she is 23 years old now.

Pompe disease is a rare glycogen storage disorder in which the affected person suffers from progressive weakness of skeletal muscles. It can also be inherited.


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Rare diseases clinic in Bengaluru

Nidhi’s case was one of the driving factors in the launch of the Organization of Rare Diseases in India (ORDI), Bengaluru, in 2013. ORDI was started by family members of persons with rare diseases along with scientists working in the field.

An umbrella organisation that covers more than 7,000 diseases, ORDI’s efforts played a part in India adopting a rare disease policy in 2021.

ORDI, which also does genetic counselling for needy parents and guides them for further care, runs a walk-in clinic Bengaluru’s Mahalakshmi Layout area. Dr Aparna U Simha, a pediatrician at the clinic, says her main work is to connect the dots. “Apart from counselling, we guide them [about the] available treatment options and [help them] get enrolled for a government grant,” she adds.

Rare diseases: diagnosis is a task

Social entrepreneur Prasanna Shirol, Nidhi’s father and one of the founders of ORDI, says his bubbly daughter showed no initial symptoms of Pompe disease.

In 2008 Nidhi suffered from acute pneumonia, which required a tracheostomy. She continued her studies (BCom first year) until 2017 despite being a wheelchair user and being on a BiPAP machine (a portable, non-invasive ventilator that assists in breathing).

Then one day, while Nidhi was participating in a college festival, the machine’s battery ran out of charge. Result: her oxygen levels dropped, causing hypoxia and then a cardiac arrest. Nidhi has since been on a ventilator at home.

“She has been in a semi-coma since September 2017,” says Prasanna. “Her cognitive abilities are near zero. She opens her eyes, and if she is feeling uncomfortable, it can be seen on her face.” Nidhi is fed liquid food through Ryle’s tube, a nasogastric tube that reaches the stomach via the nose.

Prasanna says his home in Bengaluru is like an ICU, and his wife, Sharada, manages Nidhi’s care at home.

He adds that since his daughter’s diagnosis and the setting up of ORDI, there has been an increase in awareness about Pompe diagnosis in the country. “ORDI gets three to four cases of Pompe disease every month in India,” says Prasanna.

Rare diseases: lack of awareness

Bengaluru-based IT professional Lalith Kumar Seetharaman, also a co-founder and director of ORDI, says parents find it difficult to communicate to medical staff about their children’s rare-disease condition since there is a lack of awareness.

Seetharaman speaks from experience.

His 12-year-old son — who was diagnosed with Sanfilippo syndrome (mucopolysaccharidosis type III) — died of lung infection in January 2023 after suffering a bout of acute breathlessness. His daughter, 15-year-old Aashrita, who also has the same disorder, is a wheelchair user.

Sanfilippo syndrome is a rare disease in which the affected person does not have enough of IDUA — a gene responsible for breaking down long chains of sugar molecules – in the body. It primarily affects the central nervous system, hampering the functioning of brain and spinal cord. In this disease, the neuro muscular strength reduces with inflammation in the nerve endings.

“In the case of my kids, first the voice was affected, followed by decline in IQ and an inability to walk,” says Seetharaman.

While there is no cure for Sanfilippo syndrome, Seetharaman wishes supportive symptomatic treatment was available for survivors. “Research needs to be enhanced to make their lives better,” he says.

Since 2016, ORDI has also been organising a multi-city ‘Race For 7’ — a 7km event (where participants can walk, run or cycle) symbolising 7,000 known rare diseases, the average of seven years it takes to diagnose a rare disease and the 70 million estimated rare-disease-affected persons in India. “Rare diseases affect more people than the name suggests,” Prasanna says.

Takeaways

ORDI was formed in 2013 to address the concerns of those living with rare diseases in India. Formed by family members of persons with rare diseases along with members of the scientific community, it offers genetic counselling and guides parents. There are more than 7,000 known rare diseases.

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