Saturday, October 9, 2010

Meet A

My daughter A has vision issues.  She is a 6.5 year old.  She is a white female of European decent.

We noticed the issues in August but in retrospect she has been having issues for a few months. She was sitting close to the TV and has been looking to the side when I take pictures.

Middle of August after a long family vacation I realized that A really was having some serious issues seeing.  She couldn't see things very good far away or close up.  She tended to look to the side when taking pictures.  I had to make text much larger on the computer for her to even see it.  She sit almost on top of the tv.  She can't explain to me what was seeing.

As soon as we returned I made a trip to Lens Crafters (thats who I go to for my near sightedness) I wanted her to have a very quick appointment so she could get the glasses I thought she needed to fix the problem before school started.  I left the appointment in almost tears.  She couldn't see anything for the test.  Because of that they couldn't' give her a prescription.

What upset me was when the eye professional was getting frustrated so he had her look at me she was looking at the wall not at me. Every mommy alarm went off. Something wasn't right.

The only suggestion they had was.."Maybe its mental"  "Maybe she wasn't comfortable"

First thing I did was get an appointment with the Pediatric Ophthalmologist she had seen before.  She is very hard to get in to see and it was going to take 2 months for the appointment. We really wanted her to be seen soon because school was starting.  We where able to get her in to she an regular ophthalmologist a week later.   The results were pretty much the same.   The doctor did call and get the appointment with the Pediatric Ophthalmologist moved up to just a few weeks.

Right around this time I remember that my maternal grandmother was blind. I forgot the cause and thought it was important to know and that the doctors would want know.  I found out when my mother told me that I had completely forgotten that two of her brothers were also blind (we are not close with this side of the family at all)  My mother got back to me the night after the ophthalmologist with the following.
"mom had optic agraphy and brothers  libra  atrophy"  It only took some quick searching on the internet search engine to realize that those are not proper names for any genetic eye disease.  I recalled from years ago that its affects men in the 30s.

It was easy to find optic atrophy and Leber Optic Atrophy.  My mother miss spelled it.   looked into it and Leber Optic Atrophy generally affects men in their 20s Not 6 year old little girls. It would be extremely rare to be the cause for A's  vision issues.  Also if it is that means that my son and all my nephews are at risk too.

LHON (Leber's Hereditary Optic Neuropathy) is passed mitochondrially. Meaning from the mother.. Only from the mother.  This could be my fault.  Not only that but my son (and me) could be a ticking time bomb.

The back of my mind there is  a part of me that wishes this is NOT the problem. That the doctors had it wrong with my grandmother and uncles.

Ok A had her appointment with the Pediatric Ophthalmologist. She was the first doctor that believed  this wasn't something that was mental. She had a vision problem. A vision problem that could not be corrected with glasses. She ordered a stat MIR make that sure nothing like a tumor was responsible for her vision issues. (she was ordered a stat MIR the very next day)

So A had her MRI.  Found out that the Pediatric Ophthalmologist saw 'something' on her optic nerve. The MRI came out 'fine'. She has a neurologist appointment in November.

We saw a geneticist  in Boston yesterday. It was a very detailed appointment. It was 2 hour and they are doing two test on A.  One for LHON the other called a SNP-Chip Microarray  (I think).  We may get the results on the first one in a week or 2.

Here we are .. we wait.   Scared.

1 comment:

Anonymous said...

Wow, I wish they could move faster. Keep us informed.