[blindkid] our introduction

Sun Oct 7 19:39:00 UTC 2012

Hello Tuesday. I'm so glad you came on over to this list. There are many
many helpful people here. Hugs and prayers for peace with the new diagnosis.
A few of us from the LCA list are, but many are new people you haven't
spoken with.

Bran

-----Original Message-----
From: blindkid [mailto:blindkid-bounces at nfbnet.org] On Behalf Of *2sday*
Sent: Sunday, October 07, 2012 3:11 PM
To: blindkid at nfbnet.org
Subject: [blindkid] our introduction

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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