As previously mentioned on my blog, I have a rare genetic condition called Norrie Disease which primarily affects the eyes. It is only meant to affect males, but somehow I defied the odds and was the first female in the world to be diagnosed with the condition. My older brother and 2 uncles also have/had Norrie Disease. Ever since I have had access to the internet I recall Googling, desperate to find out more information about this condition that has not only had a massive impact upon my life, but my family’s too. It is surprising to think in this day and age that even now it is difficult to find accurate and detailed information about Norrie Disease. At the moment I am waiting for genetic testing in order to try and fully understand how I have managed to present with the condition and I am also keen to learn how my genetic makeup will affect my children if I am lucky enough to have them one day. I am certain that I am a carrier of Norrie Disease, so it is something that could potentially impact on my family in generations to come. Norrie Disease has stolen my vision and it is beginning to steal my hearing. Whilst I am an individual who is intent on not allowing their disability stopping them from leading a fulfilling life, I can’t escape from the fact that I have Norrie Disease and always will.
Last Saturday, something exciting happened. It was the launch of The Norrie Disease Foundation. It is the first UK based charity setup to support those affected by Norrie Disease. Their aim is to connect Norrie Disease families as well as promote vital new research into the condition. Unfortunately, I was unable to attend the launch. However, I am very grateful to those who have put in the hard work to make this much needed charity a reality. I am looking forward to seeing what The Norrie Disease Foundation can achieve and getting involved with the Norrie community.
To visit The Norrie Disease Foundation website, just click here.