Hello fellow sufferers~ As a reminder, Kevin Hartl and I will be at Rare Disease Week 2024, at the Capital from Feb 24th to the beginning of March. He and I will have exhibit tables next to one another (I’m representing Hypnic Jerking as well). If you are local, please make yourself known! At the very least, we can meet up for dinner. If you’re not local and want to join in, reach out! The week ends with a day at NIH (National Institutes of Health… a speaker from their Undiagnosed Disease Center will be there.
I just decided I’m going to go to NIH for Rare Disease week. Anyone local (DC/Maryland or Northeast etc) who wants to meet up? I’m looking into how I could have an exhibit or a presentation. I’d like to represent both Hypnic Jerking and ES.
That’s a FANTASTIC PLAN, @Thans! You may see some representatives from Ben’s Friends there as I believe there are a few of the top tier folks who attend that convention. I’d love to go some year but I’m on the West Coast so not very close.
I was wondering! Maybe I’ll post it in larger group.
It’s funny, I’ve worked over the last few years with CoRD, coordination of rare diseases. This is to create a registry / survey for the Hypnic jerking (Excessive Fragmentary Hypnic Myoclonus). I met them through NORD (Nat assoc). Ha ha sounds funny. Well all that to say that I’m going to meet a Ben there (from CoRDS).
I’m super curious as to the co-morbidity of Hypnic jerking and ES. Or hypnic jerking and structural impedance in general.
I don’t think there is a registry for ES but there should be.
None of the top tier of Ben’s Friends have ES so it would make sense there’s no specific ES registry but maybe someday! Ben had AVM & possibly one other person did, too. A couple others have Psoriatic Arthritis, and I think there’s a brain aneurism in there as well.
It is curious that ES could cause or contribute to any form of seizure type activity. There is so much to learn about nerve conduction & connections w/in our bodies & how those things affect us.
Yes. My supposition is that there is a metabolic shift that happens, instigated by inflammation, that activates a mineral channelopathy gene. Then if there is any body impedance (nerve entrapment, enter the hypnic jerks).
By registry, I mean survey with NORD or CoRDS. Not Ben’s friends. I mean the larger context - is ES on the map of rare disease research.
As far as I know there is no research going on for ES, however, the Venous Congestion Webinar that took place in May was a step in the right direction.
Hello fellow sufferers~ As a reminder, Kevin Hartl and I will be at Rare Disease Week 2024, at the Capital from Feb 24th to the beginning of March. He and I will have exhibit tables next to one another (I’m representing Hypnic Jerking as well). If you are local, please make yourself known! At the very least, we can meet up for dinner. If you’re not local and want to join in, reach out! The week ends with a day at NIH (National Institutes of Health… a speaker from their Undiagnosed Disease Center will be there. I applied there as patient years ago… rejected.
Admin, can you please help me post this at the top?
Sorry, I don’t know how to navigate this forum well (also I’m using a phone).
Thanks
Hope that it goes well for you!
I’ve added the reminder of the date at the top of your discussion, but it should be at the top of the latest discussions anyway as you’ve continued the discussion.
