Mary White (Fianna Fail) | Oireachtas source

I second the amendment proposed by Senator Mooney that the HSE make funding available for the Orkambi-kalydeco drug for cystic fibrosis which has improved the quality of life of many patients who have received it.

Carol Brill is a young woman with a devastating and rare genetic disease called Usher syndrome. This causes the simultaneous gradual deterioration of hearing and sight. Although there is a lot of research on Usher syndrome, there is no cure or treatment for it. Treatment focuses on helping the person adapt to hearing and vision loss as much as possible. Going deaf and blind simultaneously is a pretty life changing experience. No longer can a person drive a car and he or she will struggle to hear a conversation in a noisy and dimly lit restaurant. Last year, at the age of 45, Carol was genetically diagnosed with Usher syndrome type 2a. This genetic diagnosis was only possible through the relationships Carol had forged with many of the international researchers working in the field.

The truth of the matter is that, despite all her research, she is no clearer about whether she will be able to access basic health and social care services in Ireland. She honestly does not know how she will make her way in this world for the rest of her life. In a place that proclaims to cherish all citizens equally, she feels invisible. There are many people in our country who, like Carol, have rare conditions and are largely on their own in our society. There is no dedicated entry on the national physical and sensory disability database to record her needs and not a single case worker is putting her needs and the needs of other dual-sensory impaired people at the top of a list of current priorities.