Talk:Usher syndrome

message: WillowW asked me to drop by and comment on this article. I am posting my comments here.
Lead
*"gene therapy seems promising" - As someone with a disease for which "gene therapy seems promising", that phrase rings empty, I can tell you. Perhaps something a little more specific?
::* Is that better? Willow (talk) 16:02, 6 January 2008 (UTC)
replies: text: * OK, I moved that, along with the definition of "syndrome". Willow (talk) 16:02, 6 January 2008 (UTC)
replies: text: My mom has Usher Syndrome and much anxiety existed as to whether one of my siblings or I would get it.  Of course, this was back in the day when less was known about it, but I can tell you that learning that it was autosomal recessive was important. 2600:1702:170:3B90:8C31:4731:9ABB:7A5A (talk) 21:47, 13 November 2023 (UTC)

text: * I guess they're not different enough clinically?  Probably nowadays people might refer directly to the mutated gene. Willow (talk) 16:02, 6 January 2008 (UTC)

text: * Removed definition of autosomal recessive, but kept explanation of parental thing.  is that OK? Willow (talk) 16:02, 6 January 2008 (UTC)

text: * I only know the few studies I mentioned (US, Germany, Scandinavia) but they are probably more; perhaps from France or England? Willow (talk) 16:02, 6 January 2008 (UTC)

text: * Presumably that syndrome could occur anywhere, but maybe people have only studied it there, or maybe there's a locally high concentration of people with the mutated gene living there.  I need to read up on it.  Willow (talk) 16:02, 6 January 2008 (UTC)

text: *It's both, no?  The rate at which you go blind varies with the clinical subtype.  Willow (talk) 16:02, 6 January 2008 (UTC)

text: * I need to read up more on the specific cellular and inter-cellular pathologies of Usher syndrome; I'm worried that this sentence is not accurate as is, or at least may be slightly misleading. Willow (talk) 16:02, 6 January 2008 (UTC)

text: * I completely agree, although I'd need to find/make such diagrams, which could be hard for me.  Pigmentosa aside, I think the damage may only be visible only microscopically, on the level of cells or between cells, so the macroscopic anatomy of the ear or eye might not be that useful.   Willow (talk) 16:02, 6 January 2008 (UTC)

text: *OK, I put it first and re-wrote it slightly. Willow (talk) 16:02, 6 January 2008 (UTC)

text: * This probably tells more about me than about the disease. :(  Given the challenge of living without both hearing and sight, I wanted readers to know that people still live incredibly productive lives and meet that challenge head-on.  The Spencer Tracy connection is relevant, because a major center was opened to help children living with Usher syndrome.  Willow (talk) 16:02, 6 January 2008 (UTC)

text: * A great idea that I haven't gotten to as yet.  I might be able to move some people from the "Individual cases" section to "Living with Usher syndrome".
I hope this was helpful. Awadewit | talk 20:41, 10 November 2007 (UTC)

text: Thank you, Awadewit!  I definitely look at the pages for those other diseases; I'm keenly conscious of there being a lot left to do on this article. :P Willow (talk) 16:02, 6 January 2008 (UTC)
thread_title: Comments

message: However, a mis-diagnosis can have bad consequences, e.g., if the parents elect to give the child cochlear implants.
What are the bad consequences? I don't understand - would the implants not work if the child actually has Usher syndrome? Or would they just miss the blindness yet to come (in which case the consequences aren't really worse because they would have become blind regardless)? 70.130.233.237 (talk) 03:07, 18 May 2008 (UTC)
thread_title: Cochlear implants

message: Mention should also be made of Janice Adams, an honors graduate (both BA and MA) from Gallaudet University, who has written and lectured extensively about deafblindness.  She was featured circa 1984 on a PBS children's series, Voyage of the Mimi, and the accompanying book.  She was a social worker in Maryland, and now is active in Canada.  A devout Jehovah's Witness, she told her story in that denomination's magazine: 
http://www.watchtower.org/e/20010422/article_01.htm
She is very well known in the Deaf Community.  71.178.242.140 (talk) 15:45, 20 March 2009 (UTC)
thread_title: Usher individuals

message: "Ahmed stated that a protein, called CIB2, which binds to calcium within a cell, is associated with deafness in Usher syndrome type 1 and non-syndromic hearing loss. "
http://www.indianexpress.com/news/gene-that-causes-deafness-pinpointed/1010322/  — Preceding unsigned comment added by 117.194.195.70 (talk) 14:22, 1 October 2012 (UTC)
thread_title: CIB2