The Rare Disease Cell of Ministry of Health & Family Welfare, Government of India, has included Glanzmann thrombasthenia (GT) in the National Rare Disease Policy 2021. The disease is listed in Group 1 (disorders amenable to one-time curative treatment).
The Goa State Commission for Protection of Child Rights had written to the Directorate of Health Services as well as Swarnendu Singha, Under Secretary, Rare Disease Cell, in March 2023, to include Glanzmann thrombasthenia in the National Rare Disease Policy 2021 after one child from Bardez was diagnosed with a rare bleeding disorder.
Glanzmann thrombasthenia is a congenital bleeding disorder caused by a deficiency of the platelet integrin alpha IIb beta3. This integrin is the platelet fibrinogen receptor and is thus essential to platelet aggregation and hemostasis.
With several children being identified in Goa with rare diseases such as SMA (Spinal muscular atrophy (SMA), Chanarin-Dorfman Syndrome (CDS), particularly, the Commission had two review meetings to streamline benefits of the National Rare Disease Policy 2021.
Goa SCPCR had written to the Directorate of Health Services and the Centre in March 2023 to include Glanzmann thrombasthenia in the National Rare Disease Policy 2021 after one child from Bardez was diagnosed with a rare bleeding disorder
The Commission has called upon the State government to urgently identify and create a registry of children with rare diseases as notified in the National Rare Disease Policy 2021. Identification of such diseases would allow the authorities to understand the burden in the State and include other rare diseases, which are not listed in the policy, in the registry.
It has also recommended inclusion of children with rare disease as a category for social protection benefits through the Dayanand Social Security Scheme by Social Welfare to ease financial hardship in families of children with rare diseases, i.e. to purchase specialised equipment and compensate for loss of income to care givers.
Several children in Goa have been identified with rare diseases such as SMA (Spinal muscular atrophy (SMA) and Chanarin-Dorfman Syndrome (CDS)
According to Peter F Borges, Chairperson, Goa State Commission for Protection of Child Rights, raising children with rare diseases and conditions involves a long wait for diagnosis, besides parent grapple for finding resources, handling uncertainty and more. These children and their families deserve urgent attention from the government to improve health outcomes, he suggested.
Sabina Da Cunha, an affected parent, said, “My appreciation to Goa SCPCR for the inclusion of Glanzmann thrombasthenia in the National Rare Disease Policy 2021. This has given me a sense of relief and will help my son and family to navigate through the complex challenges in care giving which I face on a daily basis.”
The Commission has lauded the Directorate of Health Services, in particular Dr Prashant Suryawanshi, Integrated Disease Surveillance Programme, DHS, for pursuing the matter with the National Rare Disease Committee.
