Okay, I have a 6yo Deaf son who may also be going blind via RP(retinitis pigmentosa). We have a desperate need to find out for certain for obvious reasons. We have 2 top specialists disagreeing. One at UNC saying he has RP. One at Duke saying she doesn't think so. We've been to both a few times & dx has not changed. HOWEVER, the dx for our daughter w/ Optic Nerve Hypoplasia has. She was originally dx'd at UNC by the same guy dx'ing my son. Then went to Duke (a satellite office in Cary). Lady said she didn't have ONH but also said she disagrees w/ much that this other doc at UNC says. Later on, she changed her dx to his. Now, she still has not changed our son's dx to RP. There is a definitive test to determine if he has RP. It's a field of vision test. UNC couldn't due it as their machine was broken. DUke won't do it b/c they don't believe he has RP so no reason for the test. He has some major hints of having RP... hard transitioning to different lighting, sometimes can't stand being outside(his favorite thing!), running into things, etc. The reason we are so adament about knowing is he is Deaf. no denying that one--LOL. Though UNC & Duke disagreed about that dx too!!! Duke originally told me he just has a mild vanilla hearing loss...ummm NO. Anyhow, you can see way I'm on the fence on this one. Both are awesome institutions and we've had success in different areas w/ both of them. However, I need another doc b/c I don't think I'm getting anywhere w/ this one at Duke. We are now being told to patch our son. If we do this, he literally won't be able to see us in order to communicate w/ us b/c he signs. I need a fresh, unbiased opinion on his eye health for sure. This has to be a GREAT pediatric opthalmologist. Not just an optometrist. Very complicated eye issues. Thanks in advance. Stephanie--mom to 7
I may or may not be able to help. I personally don't know any, however I used to work for Camp Dogwood (which is a wonderful camp for the blind) for one summer. I have contacted my old boss and her daughter to find out if they may know of someone you can contact. My old boss had RP herself and I believe there is a chance that her daughter also has it. I knew they would know the correct person ... I just don't know how long it will take me to hear from them. If you fail to hear from me, PM me later to remind me about this.
If he's deaf, and they think he has RP, wouldn't he actually have Ushers Syndrome? My friend adopted a kid who had this Ushers. Goodluck and hope everything turns out okay for both of you
Since they won't do genetic testing, we can not "officially" confirm Ushers. You can have deafness along w/ RP w/out having the genetic markers for it however. Now, to complicate his case further, he has AN(auditory neuropathy). Typically, kids w/ AN do NOT have Ushers. There has only ever been one other case where a child has AN that also has Ushers. KNowing our luck at our house, our kid would be the second--LOL. I'm sure there may be more cases but being on the AN boards & the researchers that are also on that group, pretty certain there is only one other case. Crazy stuff, huh? There are 3 types of UShers. Being that his vision is currently stable, hoping nothing will start happening till the teen years. He is currently losing use of the left eye but not due to possible RP but due to strabismus but the kind you can't see. I wish I had fancier terms that they use but alas, I did not go to opthalmology school. Ushers is a possibility here and even has probable Ushers on a few of his medical records. Wish we knew at this point as we could better plan for his future. Stephanie--mom to 7
This guy sounds great & willd efinitely check him out! Thanks a bunch for that. Maybe one day this year, we'll have some definitive answers. Stephanie--mom to 7
I definitely recommend Dr. Board...He is a very good doctor, not just with the kids, but with the parents too. He will take time to talk to you and explain everything. I have been taking my child to him for years and we have both been very happy with him.
I also highly recommend Dr. Board. If you tell them the circumstances they be able to get you in pretty fast either way you sould be able to get in within 3 to 4 weeks. He is awesome!!!!!!!!
Thanks so much for the on & off board responses. This is such a critical time & an official dx is needed ASAP b/c it will indeed determine how he will learn in school. Thanks to all & fyi, we will be calling Dr. Board today & seeing what they can do. Oh, and if anyone on here has experience w/ ONH(optic nerve hypoplasia) as an adult, would you mind writing me. My other daughter has this and would love a personal adult perspective on this disorder as well. stephanie--mom to 7
Dr. Board is the best. Both of my kids go to him, and we all love him. Definitely check him out. He is great with kids and parents alike. My son has had 2 eye surgeries, and he has done both of them, and I trust him completely.
Dr. Timothy Jordan. He's in Raleigh and the website is http://www.raleighop.com/ My son has been going there since he was 2 and he's great. K
I am not sure if she offers what you are looking for but we have been seeing Dr. Durham in Cary for 5-6 years. She was able to diagnose my 13 year old's vision problem after years of others telling me everything was fine (because he had 20/20 vision) We just took our 4 year old there and was relieved to find out she didnt see anything suspicious. http://www.drdurham.com/
Just wanted to say thanks to everyone who recommended Dr. Board. I called and they were extremely helpful. We have an appointment on September 1st. We will hopefully get more of a definitive answer if he is truely going blind. Thanks a billion for all the useful information. If this doc is anything like his staff, I think it will be an amazing turn around for us. stephanie--mom to 7
