National meeting forms Hunter’s alliance to address needs of patients with rare disease

The Rare Diseases India Foundation (RDIF) held a national meeting to address the needs of individuals affected by Hunter’s Disease (MPS Type II). The event brought together medical experts, government officials, and patient advocates to discuss the formation of a Hunter’s Alliance. The initiative aims to create a unified voice to advocate for increased funding and support for patients living with Hunter’s disease.

Saurabh Singh, Co-founder and Director of Rare Diseases India Foundation, said, “The formation of the Hunter’s Alliance is an important collective initiative of patient advocates. This will strive to ensure that patients with Hunter’s Disease receive the attention and support they need.”

“By bringing together multi stakeholders, our aim is to advocate for a more effective framework within the National Policy for Rare Diseases 2021 that addresses the unique challenges faced by these patients. The financial strain on families affected by Hunter’s Disease is immense. By roofing the patients under our existing policy, we can foster better treatment coverage and significantly improve their quality of life,” he added.

Hunter’s Disease, or Mucopolysaccharidosis II, is a rare lysosomal storage disorder that affects males due to a deficiency of the enzyme iduronate-2-sulfatase (I2S). This deficiency leads to the accumulation of glycosaminoglycans (GAG) in cells, disrupting organ function. Symptoms include distinct facial features, large head, joint problems, hearing loss, cardiac issues, obstructive airway disease, sleep apnea, and enlargement of the liver and spleen. The disease’s progression varies, with life expectancy ranging from 10 to 20 years in severe cases, though some individuals may live longer with a relatively good quality of life.