Of letters and fact sheets

This is going back quite a while, but in a previous post I had spoken about a letter which I was going to send to the National Eye Institute (NEI). The idea was to request the NEI to convene a meeting of researchers dealing with various aspects of retina related research, in order to ascertain what could be done to reverse the blindness caused by Norrie Disease (ND).

But then stuff happened, life happened, Ruzbeh’s epileptic attacks happened, and the letter got relegated to the background.

And as is often the case with the passage of time, ideas change, more research takes place, and plans get revised.

As I pick up the thread and continue on my journey, I’m more inclined to reach out to individual researchers, just as I have been doing for other symptoms. It will be interesting to see if I can engage with anyone at all - try talking to folks about a cure for ND related blindness and they invariably steer the discussion to vision substitution systems.

Speaking of the NEI, here is a little anecdote:

A long, long time ago - like maybe a year ago – I happened to be poking around the NEI’s website, and I came across a tab labelled “A-Z Diseases and Disorders ”. My immediate thought was ooooh, let’s see what it says for Norrie disease. Surprise, surprise, there was no mention of ND. Well not under ‘N’ anyway. So I poked around a bit more and listed under ‘R’ was “Rare Diseases”. Okaaay, I thought, it’s got to be here. Bigger surprise – no mention of ND there either.

I’m sat there thinking, here we are, living with the crowning glory of eye diseases. We ought to have made it to the top of the list. LOL.

So I wrote to the NEI, as one does, to enquire why their website does not feature ND anywhere. I received a reply which said “currently, the NEI does not have a fact sheet on this condition which is why it is not listed under “Rare Diseases”.” It went on to list other websites where ND related information could be obtained. You know, the usual stuff – NORD, OMIM, NDA, PubMed. Actually I could even add my own blog to this list. But I digress.

Now I’m sat there scratching my head - fact sheet? What is a fact sheet? And whatever it is, why can't we make one for ND?

So I wrote back. What is a fact sheet? What are the criteria which determine which diseases get to have a fact sheet? What can we, the Norrie community, do in order to have a fact sheet about ND? Etc.

This time the line went dead. No reply.

Silly me with my silly questions.

Do you know why there is no mention of Norrie disease on the NEI website? If so, I would love to hear from you. As always, I can be reached at maladiedenorrie@gmail.com.

Till next time then,

Meenu.

PS: The aforementioned tab on “A-Z Diseases and Disorders” appears to have been replaced by “Search A-Z” on the NEI website (just below the search box on the top right corner).