Please login to post a response.

• Confused and need advice
• Posted: 2008-01-11 22:10:57 By JESSIKA Y
• Hello all! My son was diagnosed w/ Achromatopsia when he was 10 months old after an ERG, we were warned it might not be accurate as he fell asleep. At 3 he had another ERG- under anesthesia- and the diagnosis changed to Cone-Rod Dystrophy. His vision has been assessed as well as can be in a toddler. The glasses are helping. We just moved again and unfortunately have to start this whole process over. He is going to be starting school next year, so this grows more and more important. We don't have faith that either of the diagnosis are correct as the symptoms don't seem to fit, and I recently found out you should be awake for an accurate ERG! What tests should we ask for? We are seeing his new ped for a consult and referrals to (hopefully) a retinal specialist. I am hoping some experts here can help me to advocate for my son. Thanks in advance.

• Re: Confused and need advice
• Posted: 2008-01-12 02:59:34 By Darran Z
• Well, first of all, remember that RP is a group of retinal diseases. Cone-Rod Dystrophy is one form, Rod-Cone Dystrophy is another, etc.
  
  My understanding is that the ERGs are so abnormal (low) in RP that even if one is doing well, the ERG will still be abnormal. There is a certain threshold and if you are below this then you are pretty much have it. Typically, normal vision measures in an ERG at 550 mV (Microvolts). The low end is 300mV. Typically, someone with RP is not detectable, down to 20mV. So it's quite significant.
  
  Darran

• Re: Re: Confused and need advice
• Posted: 2008-01-12 19:11:16 By JESSIKA Y
• Thank you for replying but maybe you misunderstood my question. Please tell me what kinds of tests I should ask for when advocating for my son. I want to get a diagnosis that fits him this time and be able to do what is best for him as far as school goes. Thanks again. Jessika

• Re: Re: Re: Confused and need advice
• Posted: 2008-01-12 23:54:33 By Cynthia M
• Jessika,
  
  For the schooling, I would contact the school district with the information you have now. They will conduct their own assessments on your son's visual needs for educational purposes.
  
  Cynthia

• Re: Re: Re: Re: Confused and need advice
• Posted: 2008-01-13 00:04:22 By JESSIKA Y
• Thank you Cynthia, that helped. I will do that next week. I appreciate your input. Now, does anyone know what tests my son should get? Another ERG done awake this time? Help please! any imput is appreciated. Thanks in advance.

• Re: Re: Re: Re: Re: Confused and need advice
• Posted: 2008-01-13 02:19:59 By Darran Z
• Cynthia gave advice that I would say regarding education issues.
  
  But as for medical test, the ERG is the only test that confirms RP. It doesn't matter if one is awake or not because what it does is measures the ability of the photorecepters picking up electrical stimulation rather than measuring anything he can see at all, so being awake or sleep is irrelevant. I suppose it is more a preference than anything else by the technician administering the test.
  
  Did you say he had two done already? Were the results similar or are they way off? If they are similar then redoing an ERG isn't going to change anything.
  
  Darran

• Re: Re: Re: Re: Re: Confused and need advice
• Posted: 2008-01-13 11:38:51 By Cynthia M
• Jessika,
  Katie, who also posts on here when she can, started an online support group of parents of children with RP. We are a private group and have a great group of mothers (and a father) who have children of all ages and stages. Many with younger children have been where you are at now. If you would like to join us, contact me at mamammomgrandma@yahoo.com and I'll get that invite out to you!
  
  Cynthia

• Re: Confused and need advice
• Posted: 2008-01-13 17:05:09 By JESSIKA Y
• Cynthia- thank you I would love to join. Please email me the info at jessikay@gmail.com. I tried to email you and it didn't work. Thanks so much. Jessika