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• ushers syndrome?
• Posted: 2008-02-13 21:27:48 By jennifer c
• My daughter is 2 years old and has low vision(20/150) due to her retinas, we wont know anymore untill they do the ERG in May, but she just had her hearing tested and the found she was severely hearing impaired from the coclius (inner ear). She also has low muscle tone and braces on her ankles, and she doesnt speak or walk yet. My question is...how do I know if she has ushers syndrome? The Dr. in Boston suspects she has retinal pigmentosa or retina degeneration. If this is the case what do I need to tell the doctors to do next? I'm very frustrated and tired of having to ask the doctors to be more pro active. Also when dhould I get her balance checked?
  
  Thanks,
  
  Jenn

• Re: ushers syndrome?
• Posted: 2008-02-14 19:45:43 By Patti H
• Jenn;
  I have two children with ushers type 1. I'm really not sure your daughter has ushers. My daughters vision is 20/20 corrected with glasses and although I didn't do an erg on them at birth, I'm sure it would not of been normal, but pretty close. Our oldest is nine and has difficulty in very dark situations. Otherwise, her vision is very good. Our three year old with ushers sees perfect right now in the dark. Although an erg would probably not be normal. It takes time for the difficulty to start and they have the most severe form of ushers. Their balance issues exisited, but not anything that required intense physical or occuptation therapy. The girls walked at about 20 months, and their balance as toddlers was pretty poor. They worked it out themselves, although I'm sure some phyical therapy wouldn't of hurt.
  
  They do not have malformations of the cochlea. The reason they do not hear is because of not developing hair cells within the cochlear. The anatomical parts and the acostic nerve are all within noraml limits. They're missing a protein in their DNA that is resposible to form the hair cells within the cochlear and the support for normal funtion of the rods and cones of the eye.
  
  If you would like me email at home its cimom68@comcast.net
  
  Not sure if I helped. I would talk to Dr. Kimberling at Boys Town.
  
  If it is ushers, hold tight. SHE IS GOING TO DO GREAT! Does she have a cochlear implant?
  
  Patti

• Re: Re: ushers syndrome?
• Posted: 2008-02-14 21:35:57 By jennifer c
• She doesnt have implants yet. They want to try hearing aids first. She does have a partial deletion on chromosome thirteen and I have heard that number 3 chromosome has a part in type 2 usher syndrome.
  
  Jenn

• Re: Re: Re: ushers syndrome?
• Posted: 2008-02-15 11:50:05 By Darran Z
• Jenn,
  
  I agree with Patti, I don't think your daughter has Usher. In Usher there is no chromosome deletion, only a mutation. Given this information and the fact she has low muscle tone and needing braces, leads me to beleive it is something else. People with Usher do not have chromosomal deletion or other "disability" added into it. If there are more physical issues such as the msucle tone, then I suspect it is something else.
  
  Have you been in contact with Dr. Bill Kimberling at Boystown in Omaha? He would likely be able to tell you right then if he suspects Usher or not. He's the world's leading researcher (one of them anyway) on Usher Syndrome. I've known him for 21 years.
  
  Darran

• Re: ushers syndrome?
• Posted: 2008-02-15 12:53:17 By Cristy W
• the low muscle tones could be caused by not having enough enymes. (not sure if I spelled correctly) I heard they have injections that help this problem, not sure the details on it but would be worth checking into.

• Re: Re: ushers syndrome?
• Posted: 2008-02-21 14:42:32 By Monika S
• Hi,
  
  I agree with everyone else on the message board that your daughter probably does not have US. Just to clear up the issue about low muscle tone, my daughter who has US 1 was diagnosed with hypotonia (low muscle tone) when she was about 8 months old. I think alot of children with US 1 could be diagnosed with hypotonia since they are delayed in sitting up and walking due to their vestibular issues. My daughter did have PT for about 8 months and walked at 18 months old.
  
  Take care,
  Monika