#RareDiseaseDay: Norrie from a Norrie Man’s Perspective

February 29, a day that comes around only every four years. This means that in my 36+ years of life, I have encountered this “leap day” 10 times. Pretty rare, isn’t it?

At some point, someone realized that this day would be a good time to highlight the presence of rare disorders where they exist in the population. Long-time readers probably already know that I have a genetic abnormality called Norrie Disease, which results in total blindness from birth and hearing loss by about the second decade of life. As far as I know, blindness is near universal. But the way that hearing loss presents itself can vary widely, probably dependent on the level of other vascular issues one has as well.

Some individuals with Norrie can have more severe symptoms including mild to moderate Intellectual Disability and/or Autism. This happens due to the deletion of the NDP gene.

Norrie is usually passed on through families, but there have been some cases of spontaneous mutation in folks who have no previous history. There are believed to be only about 400 instances of it throughout the world. But given the Internet, Facebook groups, mailing lists and the like that bring us all together, I am led to wonder how accurate that number actually is.

For me, Norrie has been both a curse and a blessing. A curse, to the extent that it does create some challenges. While mine is definitely toward the less severe end of the spectrum, I still struggle with the fact that I can’t hear as well as I once could. This can dampen my confidence and cause me to feel less effective in almost every social situation, constantly having to rely on others to signal me when things have been said or to repeat themselves. Even though people reassure me regularly that this is “no big deal,” it still does deflate a bit.

Of course there are a set of broad based challenges I face as well, with regards to obtaining employment, education, and even maintaining a romantic relationship (but I have a great one, happy anniversary to us!) These aren’t necessarily confined to Norrie folks, of course, but they do confound my existence and present some extra things for me to overcome.

Not all is doom and gloom, though. I feel fortunate for the association to which I linked above, and of which I am currently president. This opportunity indirectly inspired me to get back onto the grad school flow and seek that Master of Arts degree in Communication on which I am now working. I have it in mind to write for or otherwise contribute to a nonprofit organization, likely NPR. So I acknowledge the importance of learning to help others and to understand how to deal with issues.

And on a more basic level, I feel that my main purpose here is to educate parents and other caregivers that we all can be worth something, no matter our situation. This is always my take-home message. And with the near daily advances in technology, our chances to do and be what others are have never been better.

I’m not sure if I’m in my most solid writing form at the moment, hey it’s Monday and a workday so what can one expect. As such, I thought I would provide a set of related posts that will hopefully give you more depth.

Intro Post
My Challenging Wax Cleaning
Five Years of the NDA
NDA 3: Takeoff and Tour

7 Responses to #RareDiseaseDay: Norrie from a Norrie Man’s Perspective

  1. Eloquently worded and beautifully written blog. John it’s a truly inspirational piece of writing and I am new and haven’t even read your earlier blogs! Thank you and keep this up. If just one reader, who may be a parent, care giver, friend or grandparent, of someone within their family or friendship circle – learns more, feels more, gives more or is now more aware of this disease, then you should be very proud of what you are doing and have done. I’m pleased and very thankful you have shared with me a link to your Blog. I’m am now more hopeful that I will continue to learn more about Norrie’s through your Blogs, not just for my own education but for my friends and colleagues who have the most awesome little boy with Norrie’s.

    • That’s ok. I thank you for reading, and hope you have a nice day. Writing is in many ways what gives me life.

      • You’re welcome John. Writing, I find for many people, does gives life meaning and purpose especially when it is well written – like your Blogs.
        Your sharing your story, giving a voice to a voiceless (in many ways) and rare disease. It’s special to you and important that as many people know about, and correctly understand about, Norrie’s Disease.

        Well done!

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