[blindkid] our introduction

*2sday* tuesday0728 at yahoo.com
Sun Oct 7 19:11:08 UTC 2012


Hello all ... 

   My name is Tuesday and I am from Cincinnati, 
Ohio. I am 30 years old and have four amazing children. Joey (7), Carson (5), 
Landon (4), Summer (2) These little people are my world! Our oldest Joey has 
always been hyper and struggled socially and in school. He was 4 when he started 
preschool and mostly just had behavior issues stemming from him being so hyper. 
Kindergarten was a major struggle, Joey was behind and we noticed that he 
couldn't see all that well. He failed his school eye exams so we went to the 
local eye Dr. which he passed. His vision was fine. It was in Kindergarten when 
we started his IEP for behavior and being so behind. Things that we would notice 
were Joey doing what seemed like adjusting his eyes. He would widen them and 
look to the side. His pupils were also VERY dilated! My mom would question this 
all the time. When we went to the regular eye Dr. we mentioned this but nothing 
ever came from it. Kindergarten and 1st grade he was seeing the same 
intervention specialist who was always keeping in contact with me because she 
just HAD to know what was going on with Joey. She had been working with kids 
with disabilities for 30 years and Joey just caught her attention.1st grade was 
challenging. Joey was so behind that he would just cause trouble in class and be 
sent to the principles office a lot. Up to this point we had tried several ADHD 
medications for his behavior and attention with not much success. We were also 
going through Cincinnati Childrens Hospital for some physiological testing. I 
had told the psychiatrist about Joeys vision and how we hadn't gotten many 
answers. She told me to call Childresns and set up and appointment with 
the ophthalmologist there. I did, & it took 7 months of waiting to get in. 
We saw her April 26th, 2012. She said right away that there was some issues with 
his retina. His central vision was good so there was nothing that prescription 
glasses would do but she wanted us to see a Retina specialist. We saw Dr. Sisk 
with the Cincinnati Eye Institute on May 1st 2012. 

This day ... I remember oh so well. After some 
testing we met with Dr. Sisk and this is when he told me that Joey was legally 
blind. The way that he said it "Joey will never be able to drive a car or fly a 
plane, this will limit a lot of things in life for him" As a mother I 
was devastated. I broke down. After getting myself back together to listen to 
the Dr. we were told that Joey possibly has one of two diseases. Leber's congenital amaurosis (LCA) or Retinitis pigmentosa. We did blood work and had samples sent to both Carver Labs and igene labs. Dr. Sisk wanted to do an ERG as soon as possible but their machine was broken and we had to wait until the new one came in. waiting for that felt like forever! When we did finally go in to do the ERG it wasn't working properly so it felt like we had Joey put under for no reason. We did get to talk to the Dr. a little better that day and he was very certain that what Joey was dealing with was LCA. He had never told us that he was leaning more towards LCA so this was news to us. so now, we were just waiting for test results to come back. 

Watching Joey we did notice more loss of peripheral vision. Over the summer it seemed to get worse. He started tripping over things and holding on to me whenever he walked. He did fall a few times and you could tell that we was scared. Last week we received a call from the Dr. that the testing from Carver lab came back. Out of the 14 genes that were tested for LCA they were all negative. ?? My initial thought was "WHAT?! you were so sure!! you told us it was...." both his father and I were confused. If it's not LCA then RP? is it RP? so here we are, back at square one. In the dark and no closer to knowing what it is that Joey has. Dr. Sisk recommended that if we could afford it to go through with the phase 2 testing so we could see if it is LCA. He said we need to trust him with this. He still thinks it's LCA. I asked him why he wasn't leaning more towards RP and he said RP is normally in older people. Everything I've read on RP though sounds like
 Joey.  

Joey also had his first seizure in June and another in September. We have had an MRI and EEG which both came back normal. Joey's behavior has been so bad that no one wants to be around him. We have started with a therapist and are scheduled to see the psychiatrist in November. He has ADHD, ODD, ADD, and is Bi-polar. Atleast that is what they say...

What scares his father and I is, what if it's not LCA or RP and it's something else that also includes his behavior and seizures? We had discussed Battens disease with Dr. Sisk in the beginning and again when he heard of joey's seizures but with a normal MRI and EEG it's not likely. I am a member of the LCA boards on yahoo and they had reffered me to this group. I'm just at a loss as to what to do for my child. I feel helpless. 

Thank you for listening to my long story :) 

Tuesday


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