The story of Bethany

In 2018 I was diagnosed with a rare, inherited retinal disease called Retinitis Pigmentosa. RP is an umbrella term for a host of eye conditions primarily involved with the breakdown of the retina, the light sensitive part of the eye. This leads to peripheral vision loss, also called tunnel vision, poor night vision or night blindness, light sensitivity or photophobia, decreased visual acuity, floaters and blind spots. There are over 50 known genes that cause RP with more expected to be discovered in the coming years. There is no known history of this condition within my family and I was only recently told which gene is responsible for my RP after successful genetic testing. I was told that my gene is USH2A. My genetic counselor informed me that while this gene is associated with another rare disease, Usher’s syndrome, he believes that I have a much rarer presentation in that I just have RP, not the hearing loss associated with Usher’s.
In the beginning, I didn’t know what this diagnosis meant for my life, other than the fact that I couldn’t drive. At the time, I had just passed my learner’s test and was learning to drive, going out every weekend with my parents to put some experience under my belt. This was a huge hit to my independence as I now rely on friends and family for rides, public transport and ride sharing services.
For a long time, I believed I would wake up one morning and see nothing but infinite blackness, that my sight would be taken from me while I slept. Three years after diagnosis, I now understand just how wrong I was. People with RP experience progressive sight loss, although the severity and timeline of vision loss varies greatly from person to person, as well as from which gene mutation they have. I’ve also learnt that blindness is a spectrum. There is no one way to ‘look’ or ‘act’ blind and everyone’s experience is unique to them. I have learnt so much from and made so many connections within the VI (visually impaired) community in online spaces and it has been the biggest contributor to nurturing my mental health. This is why I am so incredibly passionate not only about raising awareness of the blind and vision impaired community, but educating and advocating for inclusion, equality and accessibility for all people living with disabilities and rare diseases.