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• ushers an automatic diagnosis from RP?
• Posted: 2008-03-07 09:13:45 By Kindy F
• Hi - My son, 3.5 years, had severe ataxia (balance problems when sitting and walking) since he was about 10 months old. He is very 'ataxic' in his speech (long, slow word sounds) and has been found to have some hearing loss - though the level is unknown. He has a misdiagnosis of CP for quite a while but his muscles are VERY strong and with support he can walk 1 or 2 miles. He is healthy, tolerates almost all food well, is rarely sick, and can tests fairly well on IQ tests though it is a bit difficult because of his slow speech. He has had hearing aids since November (in the 40 - 50 DB range). Wednesday, an eye exam ERS? gave us the result of severe RP. The dr immediately said that this has caused all his other problems and he likely has Usher's of some form. OK, I've spent a year trying to get genetic tests run for the ataxia's (SCA types) with no big luck. He has been tested for Fragile X (negative) and has 46 complete chromosomes (test done at a high level). We live in Denmark and it is difficult to get these genetic tests done. I am DETERMINED now that we will not continue another year with no diagnosis or a partial diagnosis based on only this test. He has had every manner of blood test, urine test, and MRI done. They are all 'normal'. From what I have read of Usher's - it doesn't seem to me that he 'fits' the stereotype - but what do I know? I am very keen to be sure that I do everything possible over the next six months to insure he has a correct diagnosis - and not a partial or mis-diagnosis. Can anyone give me some guiduance here on what/where to look and some thoughts/experiences with a young child with RP and slight hearing loss? Thank you so much! Kacey

• Re: ushers an automatic diagnosis from RP?
• Posted: 2008-03-07 11:07:00 By Darran Z
• Kacey,
  
  Can you get to Stockholm? I know a doctor there that would definately be interested in your son. I met him years ago when I was 12 years of age and I beleive he is still in practice. I can find out for sure. He'd be able to definately tell you if it is Usher or not.
  
  But from the sound of it, if your son is not profoundly deaf, then I do not think it is Usher Type 1. Since most people with Type 1 are profoundly deaf and the use of hearing aids are not beneficial (usually). But all the other symptoms you described make it out to Type 1 (ataxia for example because type 1 have balance issues and are late walkers).
  
  But if you can get to Stockholm let me know and I will provide the information. Please email me at darranzenger(at)yahoo.com and I will converse privately with you.
  
  Darran

• Re: ushers an automatic diagnosis from RP?
• Posted: 2008-11-02 20:58:33 By Frances C
• Hi Kacey:
  I live in the USA and have been diagnosed with Usher's. I am 44 yrs old. Unfortunately, I do not have much advice to give you but wanted to provide support. And to share my story just in case there is something that will help you. My condition is not as severe as your son's. My hearing impairment was detected at about age 2 or 3, but was not diagnosed til around age of 8 or 9. I was told it was due to a nerve loss. I was not diagnosed with RP til age 30. I have never had any of the genetic tests done. And there is no one in my family who has this either. I hope all goes well with the testing to get a proper diagnosis. And I hope you are finding ways for him to learn sign language and/or brail.
  
  Regards,
  Denise