Retina International Celebrates Rare Disease Day 2024

Thursday February 29th marks Rare Disease Day 2024.

This year Retina International members are planning many activities to raise awareness of the challenges experienced by people living with rare diseases locally, regionally, and internationally.

On this Rare Disease Day, Retina International will continue to highlight the challenges that remain in accessing a confirmatory diagnosis for an Inherited Retinal Degeneration (IRD) which can only be provided through genetic testing services, and these remain inaccessible for many patients today.

The United Nationals unanimously adopted a Resolution on the rights of people living with a rare disease in December 2021. Within that resolution is the right to an accurate diagnosis. A landscape study by Retina International on genetic testing revealed significant disparities in access to genetic testing between countries and regions. The study noted that a remarkable number of people living with inherited retinal diseases (IRDs) have to attend five clinical appointments and wait over 3 years before receiving a genetic diagnosis. You can read more on this study here.

Even in the absence of treatment for IRDs a confirmatory genetic test result empowers the individual living with the condition and their families to take action and make decisions that can support their future lives. From nutrition to family planning to education to employment and even where to live.

To learn more about the Impact of living with an IRD why not check out RI’s IRD Counts Studies here and here. 

 

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