[blindkid] our introduction

Mon Oct 8 00:49:38 UTC 2012

Doreen

Has a great suggestion.

We saw a geneticist for our daughter and that is who diagnosed her and it
has since (two year later) been our best appointment.  We
see neuro-ophthalmologist for my daughter and to some of the best in the
country and they are rarely that helpful.  We loved our geneticist
appointments. What caused my daughter's blindness is very rare for her age.
-Penny
On Sun, Oct 7, 2012 at 8:42 PM, Doreen Frappier <dcfrappier at yahoo.com>wrote:

> Hi Tuesday,
> I would like to suggest that your child see a neurologist or geneticist.
> It is possible that there is something else going on, and maybe all the
> symptoms combined are a disorder. There are some neurological disorders
> that cause vision loss, some progressive.  Maybe looking at all of the
> symptoms he is experiencing combined might help. We saw a geneticist for
> our vi twins since they had more than one problem. They searched for a
> syndrome, but were unable to come up with anything. I think it's worth a
> shot.
>
> Doreen
> (Mother of legally blind 18 year old twins)
>
> Sent from my iPad
>
> On Oct 7, 2012, at 2:11 PM, *2sday* <tuesday0728 at yahoo.com> wrote:
>
> > 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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--Penny
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