Blind and Visually Impaired Community
↑
2
↓
BBS ? (self.Blind)
submitted by highpointing
Anyone diagnosed with BBS here?
SqornshellousZ 2 points 1y ago
BBS, yeah I had one back in the early Nineties. Dual up modems. L.O.R.D was my favorite game.
EDIT: Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction in some cases.[2] Historically, slower mental processing has also been considered a principal symptom but is now not regarded as such.
Sounds frustratingly difficult to explain to others. I like to joke, winning this genetic lottery is no fun.
EDIT: Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction in some cases.[2] Historically, slower mental processing has also been considered a principal symptom but is now not regarded as such.
Sounds frustratingly difficult to explain to others. I like to joke, winning this genetic lottery is no fun.
retrolental_morose 2 points 1y ago
I miss LORD. Someone posted, was it on r/mud? asking for an LOTG reboot and I was all green? Really? Where's your originality.
Sorry, thread highjack. is that against the rules?
Sorry, thread highjack. is that against the rules?
MacaroniGlutenFree 1 points 1y ago
My 6 year old daughter has BBS. There is a GREAT private Facebook group with over 1000 members (only immediate family and affected). Tons of resources and respectful people. Very helpful.
highpointing [OP] 1 points 1y ago
Polydactyly? My GF was born with an extra toe.
Got it removed. Another BBS family near us has a six year old daughter with six digits on each hand.
Got it removed. Another BBS family near us has a six year old daughter with six digits on each hand.
highpointing [OP] 1 points 1y ago
Are you familiar with RSD/CRPS?
MacaroniGlutenFree 1 points 1y ago
No I’m not familiar. I had to Google those acronyms. Never heard of those.
highpointing [OP] 1 points 1y ago
She has RSD in her neck and shoulders from being beat everyday by her ex. She now has a spinal stimulator that sends to calm the nerves. It's only so effective though.
MacaroniGlutenFree 1 points 1y ago
Oh, and the fact that you have another BBS family near you is statistically surprising for such a rare condition!
highpointing [OP] 1 points 1y ago
Found another in the same town!
MacaroniGlutenFree 1 points 1y ago
Polydactylia affects at least half of the BBS population I would say and yes, my daughter had extra toes and fingers (removed). There is a fix for that so, it’s not that big a deal. There is always a lot of variability in genetic syndromes and that Facebook group is great to demonstrate that. The one sad constant is blindness (at different rates) and next is obesity that affects almost everybody. Weight control is a life long battle but they are developing medication that could help BBS. Then comes other common issues such as kidneys being quite serious, general developmental delays, speech issues, etc.
This nonprofit website is run by volunteers.
Please contribute if you can. Thank you!
Our mission is to provide everyone with access to large-
scale community websites for the good of humanity.
Without ads, without tracking, without greed.
scale community websites for the good of humanity.
Without ads, without tracking, without greed.
©2023 HumbleCat Inc • HumbleCat is a 501(c)3 nonprofit based in Michigan, USA.