[blindkid] our introduction

Mon Oct 8 18:06:41 UTC 2012

Tuesday,

Welcome to the group, and I am so sorry to hear of your struggles to get
accurate and timely diagnoses for your son. One of the worst, most helpless
feelings in the world is knowing there is something seriously wrong with
your child, but not knowing exactly what it is or what to do to help make
it better.

My oldest daughter lost her vision to Retinopathy of Prematurity when she
was only a few months old. My youngest daughter is 3 months old and has
numerous complex medical issues, and most likely has cortical visual
impairment.

What I have learned is that when you are dealing with complex, nebulous
medical needs is that you need someone who will look at the BIG picture,
and look at all of his and not just a piece of him. A geneticist is an
excellent place to start. You need someone who will be able to think
outside of the box and figure out how to piece together all of his
symptoms--- subtle and not-so-subtle into a coherent whole of diagnoses
that are most likely.

Also, I strongly *strongly* suggest getting a comprehensive clinic
evaluation as a second opinion elsewhere. As you've already (unfortunately)
learned, things can be missed and overlooked. My daughter's first EEG came
out "normal" and it wasn't until her second EEG that we caught a tremendous
cluster of clinical and sub-clinical seizure activity that was taking place
upwards of 26 times an hour. Her first MRI caught her absence of her septum
pellucidum, but for some reason the neuro-radiologist totally missed
several other clinically important malformations in her brain which were
caught on her second MRI during her second opinion at another hospital.

Honestly, if it is progressive and he is starting to have other body system
involvement (seizures etc), I would have you question mitrochondrial
diseases or in-born metabolic diseases. I am *not* a clinician *nor* a
doctor and I don't want to mis-represent myself. But I know a handful of
children with mitochondrial disease who have presented very similarly to
your son. Severe forms can be fatal in early childhood with multi-organ
failure, but more mild forms can instead cause more significant behavioral
changes, progressive vision or hearing loss, along with G.I. symptoms, or
just one of these things in isolation. I would check out
http://www.mitoaction.org/mito-faq and go to their clinician's symptom
checker located in the middle of the page I linked to and see if you feel
that this is something you feel worth pursuing.

The thing is, if he does have something "rare", it can take time and a lot
of specialists and a lot of persistence. Medical professionals are trained
to look at the most obvious and most likely things first and focus there
efforts there first. It took WEEKS, four specialty fields and over a dozen
doctors to finally get my daughter's diagnosis of diabetes inspidus and she
was critically ill and ended up in the ICU at the time....all because she
was an a-typical presentation for D.I.  So, don't be afraid to continue to
pursue answers if the first one doesn't seem to fit.

What other major children's hospitals are you close to? Are you willing to
travel? I am happy to give you some specific recommendations if you would
find that helpful.

I am so sorry, and I will be thinking of you and your son.

Rene--- mom to six amazing wonderkids, including Miss Clare age 11 (ROP,
autism, developmental delay) and Miss Seraphina, 3 months (CVI, complex
medical needs)

On Sun, Oct 7, 2012 at 1:11 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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