PANAJI: The efforts of a mother from Bardez, in North Goa, has helped one of the world’s least-known conditions, Glanzmann Thrombosthenia, to be officially recognised as a rare disorder in India.
In a recent notification, Glanzmann thrombasthenia was included in the National Rare Disease Policy, 2021, by the Union health ministry. The mother Sabina Fernandes’ (name changed) five-year-old son was diagnosed with the disorder when he was just a toddler. She was the first person in the country to petition the central authorities to get the condition recognised.
However, she wants the Centre to notify the disorder as a disability.
She said that due to the crippling effect of the disorder, her son requires full-time care and with two other children below the age of 7 at home, it has resulted in loss of income for the family.
“If it is notified as a disability, I can claim aid under various schemes for disabled persons. The inclusion as a rare disorder in the national policy entitles me to a one-time benefit of Rs 50 lakh, if the child undergoes some major procedure. In my son’s case, no full-proof procedure is available so far,” said Sabina.
Following the mother’s plea, the Goa State Commission for Protection of Child Rights, as well as the State Commission for Persons with Disabilities have written to the Centre about recognising the disorder as a disorder.
Child rights commission chairperson Peter Borges said that several cases are coming forward in Goa of children being identified with rare diseases, particularly SMA (Spinal muscular atrophy (SMA), Chanarin-Dorfman Syndrome (CDS) and such. “The commission has asked the state government to identify and create a registry of children with rare diseases to understand the burden in the state and include other rare diseases which are not listed in the policy, in the registry,” he said.
Borges said the commission has also recommended to include children with rare disease as a category for social protection benefits through Dayanand Social Security Scheme by the social welfare department to ease financial hardship in families of children with rare disease, i.e. to purchase specialised equipment and compensate for loss of income to care givers.
In a recent notification, Glanzmann thrombasthenia was included in the National Rare Disease Policy, 2021, by the Union health ministry. The mother Sabina Fernandes’ (name changed) five-year-old son was diagnosed with the disorder when he was just a toddler. She was the first person in the country to petition the central authorities to get the condition recognised.
However, she wants the Centre to notify the disorder as a disability.
She said that due to the crippling effect of the disorder, her son requires full-time care and with two other children below the age of 7 at home, it has resulted in loss of income for the family.
“If it is notified as a disability, I can claim aid under various schemes for disabled persons. The inclusion as a rare disorder in the national policy entitles me to a one-time benefit of Rs 50 lakh, if the child undergoes some major procedure. In my son’s case, no full-proof procedure is available so far,” said Sabina.
Following the mother’s plea, the Goa State Commission for Protection of Child Rights, as well as the State Commission for Persons with Disabilities have written to the Centre about recognising the disorder as a disorder.
Child rights commission chairperson Peter Borges said that several cases are coming forward in Goa of children being identified with rare diseases, particularly SMA (Spinal muscular atrophy (SMA), Chanarin-Dorfman Syndrome (CDS) and such. “The commission has asked the state government to identify and create a registry of children with rare diseases to understand the burden in the state and include other rare diseases which are not listed in the policy, in the registry,” he said.
Borges said the commission has also recommended to include children with rare disease as a category for social protection benefits through Dayanand Social Security Scheme by the social welfare department to ease financial hardship in families of children with rare disease, i.e. to purchase specialised equipment and compensate for loss of income to care givers.
