More than 60 kids in India may suffer from rare Progeria: Medical experts
Two more children from India have been diagnosed with the extremely rare genetic disorder, Hutchinson-Gilford Progeria Syndrome (HGPS), in 2016, said the Progeria Research Foundation (PRF). Medical experts said India now has seven reported cases of HGPS and potentially 66 unreported cases.
Since 2013, 123 children with Progeria across the globe have been identified by PRF, which maintains a global prevalence database. Meryl Fink, president and executive director of PRF, in conversation with HT said that as of October 1, 2016, PRF knows of approximately 140 children living with Progeria worldwide. PRF shared the data exclusively with HT. “Based on the prevalence of HGPS worldwide and the total population of India as of October 2016, we estimate that there are 66 children living with the classic form of Progeria in India,” said Fink.
PRF said five-and-half-year-old Aditya Sahu, from Chhattisgarh, will travel to Boston for an all-funded clinical trial that they have been organising since 2007. India’s first identified case of Progeria, Mumbai’s Nihal Bitla, who passed away in May 2016.
Right from the first medical trial that resulted in increased weight and bone density and better heart functions in Progeria patients, the children are now participating in a new trial, started in April, which will study 10 candidates from two countries to measure effects of treatment on children, changes in health pattern and their survival rate, which is restricted to 15-17 years at the moment.
“Clearly it is important that we make inroads to identify more children and provide them with opportunities through our programmes and the potential path to future treatments,” Fink said.
Co-founder and director of Media Medic Communication, which is handling PRF’s communication in India, Dinesh Chindarkar, said they have also come across another girl child from a village near Chennai, who is positively suffering from Progeria. “We have sent her details to the PRF headquarters, if they confirm the case, it will be the third identified case of this year. Our ‘Finding the other 60,’ awareness campaign under the banner of Team Nihal has helped us create awareness and reach out to patients, who are yet to be identified,” said Chindarkar.
He said information about diseases like Progeria need to be spread across villages so that even the clinicians who come across such cases can be a part of the available treatment and medical resources. “What we need is faster identification. Until now, we have noticed we have been able to reach to the child only after he or she is four years old. If the physicians or paediatricians read the symptoms and avoid misdiagnosis, it can lead to better quality of life of Progeria-affected children,” said Chindarkar.
Commenting on the awareness Fink said PRF has many outreach efforts designed to create awareness among doctors, families and the general public. “Our ‘Find the Other 150’ campaign is designed to do exactly that: search globally for the undiagnosed children with Progeria so that they too can have access to the unique care they need, and help advance clinical science for Progeria,” said Fink.
Nihal’s father Sriniwas, who has been instrumental in creating awareness among the parents of children struggling from Progeria said that a major issue is the stigma faced by parents while in public. “Nihal had to quit school after the Hindi film Paa was released because he was taunted and commented upon by his peers. We need to adopt some empathy and sensitivity towards children suffering from a physical and mental hardship as this and try to create a better world for them to survive longer,” said Sriniwas.