Living with the mystery.

If you ask me how much Abby can see I don't think I can give a clear answer.  I know that anything with detail she needs to have right up to her face but she says she can see all these other things and i think  she sees a color smugs (I think I was the green smug with smugy glasses today) and figures out what they are and counts that as seeing something. Thats just a guess though.

She has one eye right now that is better then the other.  She is six I know what she can't see.  It took her a few times today to dip her cracker in cheese but she says she can see the other girls run around. (I guess they were short mulitcolor smuges again my guess) I think its going to take time for Abby and I to be on the same page with understanding what she is seieng.

One thing is for sure is she likes to act like a typical sighted kid. She would rather someone believe she can see something even if she can't.

Pixie Dust

Abby is a fairy this year for Halloween.  This isn't really a surprise because  Abby has always been ether a fairy or princess for Halloween. She loves being a girl.  She was wearing her costume today and she told me "Mom I wish there was real fairy who could \ could wave her wand so I could see".

In August we had her eyes checked out first at LensCrafters.  She was so excited to look at the cute adorable glasses she saw them as a magic wand.  We didn't know then that her problem was much more serious then that.

She was as confused as we were when we were told that her problem could not be corrected with glasses.

(Abby 2005)

If there was a vision fairy I am sure she would look like this.

The B word.

Its really hard for me to say that word.  When it comes to Abby it doesn't seem possible.  Right now her eye doctor measured Abby's vision at  worse than 20/500.  Thats more then legally BLIND.  B L I N D.
She is six years old and her highlight of her week is when her new vision teacher visits.  She used to get excited about popcorn day. I never seen a little get so excited about an magnifying  glass or a special clock just for her.
I have to get worried about my very active daughter in physical education class. She got head butted last week and had no idea who hit her.

Sometimes I just want to go back to where we were before.  I would do anything to save her from this. The strange thing is she is handling it a lot better then the rest of us.  I wish it could be me instead of her.  It makes me sad for all the things she is going to not be able to see.  I can't even think about it most of the time with out breaking into what one of my friends call "the ugly cry".

I worry about this but Abby lives it.

Focus..

Today I had a chance to take a step back from  my new normal while I was away today for a class I had booked weeks ago. I almost didn't go. With all that we have been through the last two weeks the prospect of being away for the day was just jarring. Seemed like too much.


I made a good call.  While Abby was never far from my mind I had a chance to focus on something else.  Since i don't work outside the home I don't have another distraction.  Its been very single focused. 


I am  lucky if I  remember to eat or sleep.  I have been walking around in a daze this week. I don't even remember half of what happened. 


So I should focus on the subjects of both people in this amazing drawing including the tall less cute one. With the big foot feet. 

Sam

There is another whole side of the coin that I have not discussed in all of this. Abby has a brother. My sweet wonderful son Sam.  Females have a 10% chance of becoming affected when they gene mutation while males have a 50% percent chance.   So that means Sam has a 50% chance of becoming affected or on the other side he has a 50% chance to NOT becoming affected.    

Sam can't pass it down to his children but Abby can. Not because she is affected but because she is female.  Its only passed down by females.

Its all a jumbled mess.

To imagine that some day Sam could be going through the same thing Abby is very hard to even think about but its,

My mother, my sisters, my nephews and myself at risk.  This is part of our lives now.

In the mirror.

In August the kids and I went to Disney World with my sister and her family. It was a wonderful and special trip.  We even got Abby turned into a princess. (well she was already a princess this just made her look the part more)  At Cinderella's castle she got a princess makeover.  I was so excited and so was Abby.  She was so proud after it was all done walking around the Magic Kingdom being dress up like a princess. (its really a great thing) 

There was one moment that bothered me.  Its that one little moment when Abby first sees herself in the mirror.  When they turned her. i expected this big huge smile when she first sees herself.  When they did turn her aground instead we got this serious look on her face.  I was crushed. 

Now I know she couldn't see herself in the mirror. I should have known something was wrong then. Instead I just excused it as her being overwhelmed because it was so much. I just may never get that image of her out of my head. 

She did love the experience. They showed her a close up view with a mirror she perked right up.  She was so proud.  

My favorite picture of the day is this one. She is rocking it.

 

First appointment with school.

The news from the geneticist over shadowed everything today. Today before we heard we had a very positive meeting with Abby's school. They seemed very open to everything we asked for.  Today they already started putting somethings in place. Very little things.  It seems the even the slightest help for Abby put her in amazing mood. Its must be so hard on her. She does such a remarkable job dealing with things that its easy at times to forget this its such a big deal.  

Tomorrow my big job is to get an appointment moved up for her. I want her to be seen soon.  

Its Official

I thought for a few minutes for a title that was witty and nothing came.  Saying something is "official" sounds like it should be a good thing.  

We know what the problem is with Abby. She has LHON.

Its no longer a mystery so in thats respects its good.  On the other hand...

What does it mean?  It means a lot of things.

In the eye.

You know how they say its calmer in the eye of a storm?  Thats kinda how I feel.   The last few weeks (and its really only been weeks)  I gone from one step to the next and then review and decide what the next step is.  I then look around at these people all upset and sad about whats going on with Abby.   Abby isn't sad.  Abby isn't' upset.  Abby is just a kid.  She healthy and smart and still has the whole world to conquer.  

Then I look around and notice all the carnage the storm has already caused.  My sweet little baby.  Then the tears start to flow.   Then I look at Abby.

Abby still has a smile on her face and a spring in her step.  She knows its going to be alright.

What Abby's sees.

If you see Abby on the playground you may not realize she has a vision problem.  She runs around and plays with her friends with no problem at all.  One thing thats frustrating for her is unless her friend is really close to her  she can't tell where her friend is in a crowd.

In the classroom she struggles a lot. She can't see the board or anything on the wall (text and pictures)  unless she is up close.  She needs her work sheets  made a lot larger to be able to see them. She can't see the text in most books.  Its frustrating because Abby right at the stage she is finally getting her literacy skills. She has a hard time seeing what she is writing. She tries to not complain but it good about asking for help when she really needs to.

 At home her shoes could be a foot from her and she may not see them on the floor, even when the location is pointed out to her.  When she watches TV (and Abby love her TV) she sit right in front of the TV with her face inches from the screen.  She cant' recognize picture of herself on my laptop. Her smaller toys she needs to have put right up to her face to see.   If she is looking at you she may look at your a little to the side. Taking a picture it takes a few tires to get her to look at the direction of the camera. She is still very independent. She can go to room to with without any problems.

 I gave the school a paper from her eye doctor last week said  that her vision was worse then 20/500 in both eyes. Its alarming.  There are other test Abby will be having in the future including a field of vision test.  Abby seems to have much better peripheral vision.

Abby's problem can't be helped with glasses. Her problem is not a refraction  problem (ie near and far sighted) Her eyes are beautiful, healthy and perfect.

This blog is public.  It not only ok share I welcome it. If its is LHON as I suspect it is I want this blog to be supportive to other parents and I also want to raise awareness to a rare disease that may not only affect my family now but in the future.

50 Bucks

by Chris


So, here is my current rant...

...imagine if you will this scenario, I am on Main Street Concord. I have 2 $50 bills in hand and walk up to a random person...

Me (to stranger): Hi, I will give you $50 if you look at my daughter and tell me what is wrong with her vision.
Stranger: I don't know what's wrong with her...
(I hand him/her a $50 bill)
Me: You know as much as the doctors we have seen!!

Yeah, I am frustrated and this is partly why I have started to look towards Abby on the social and education side. For instance, this week, she has cried after school saying she can't cry in school and needed to let the tears out.

Sure, I want to know what's wrong, but the genetic test will be in soon to confirm one way or the other if she has LHON, I think I need to focus on Abby's well being and less on the disease...

New Name

After a discussion between Abby's father we have decide to include her name on the blog. He may also post from time to time.

The Next Steps

I decided tonight that I am going to be calling Monday morning to get A an appointment at the Massachusetts Eye and Ear Infirmary with hopefully Dr Simmons Lessell or Dr Joe Rizzo.  I was told they both have experience with LHON.

I also wanted to take this time to say..
Lissa Poincenot is perhaps one of the most dedicated mother's I have ever come across. She has been amazing in her support to me directly since she first reached out to me a week ago.  I think she may have declared war on LHON. She is a true force of nature.  The site http://www.lhon.org was made by her. Check out her amazing son  Jeremy ( http://www.lhon.org/jeremypoincenot/Welcome.html)

The Reward

Today A told me about the reward some members of her classroom had.  A group of  kids in her class were allowed to go in another classroom and watch a "Magic School Bus" episode.  She was so proud to be picked to go but I asked her if they placed her close enough to see the TV.  Sadly they didn't place her close to the TV at all. I am sure they never thought anything of it.  I asked A if she thought to tell someone and she could 'see' any adults in the room.  Its frustrating because I know they would have moved her if they had known.

We are thankfully having our meeting Tuesday with the school and this is getting added to my list of antidotes so they can help her in future.

another note:
 A playing with her small dolls tonight and I noticed how close she held them to her eyes to play with them. On Labor day she played with a very similar sized doll and she didn't do that at all (this is after we first realized there was a problem) so her vision has gotten worse since just then then.

What if?

One of those questions or perhaps its more a fear is what if after the results from the geneticist that we find out A (and in turn our family) does not have a LHON mutation? 

Its scary to be concerned your 6 year old may live life legally blind but the prospect of still not knowing whats going on is almost worse then having it be LHON for sure.  

Something serious is going on with A. Thats a fact. 

Overwhelmed.

Tuesday we have a meeting with A's school.  They have been so supportive.  They have been two or three steps ahead of us for A's education.  She is so proud of the things they have already done for her. A few days ago she took me to her classroom to show me her big coins and dice.  She even showed me the special spot she has in front of the class to read the board.

There are these things called CCTV video magnifier that I hope the school is going to be able to provide her one to use at school. (a picture of one is here ) Perhaps the school will have a plan we haven't even thought of.  A is such a smart little girl.   I want only the best for her.  I want the world for her.

We want to get her her own computer with a large monitor so she may be able to actually use the computer. There is just so many things.   I am lost but I am sure we will figure it out.  It good there is a lot of things out there that could help her but the scary thing is they all cost  lot of money.

Today I picked up A from school.  She started to cry right when she saw me and had a full blown fit for not real reason.   As I walked to the car trying to calm her down I realized she wasn't upset over the silly thing she was exhausted from keeping a strong face all day at school.  I forgot sometimes this is all hard on her to.

Waiting.........

A's neurology appointment was today.  It was a big waste of an hour.   The pediatric neurologist seemed uncomfortable that he had no answers.  I guess he didn't understand I didn't think he would.  He knew very little about LHON.  Then again I didn't think he would.

He is recommending we wait till hear hear from the genetic tests.  Which my guess is we will hear next week.    At our appointment last Friday the doctor said it would take 1 to 2 week for the lab across the hall to have the results. I really want to get her seen by a neuro-ophthalmologist as soon as she can but also I could use a bit of a breather.     Its hard because of her age she needs someone who is good around children but the people who have experience  have so  with primarily adults.  The appointments are getting hard on her.  I keep having to tell here there will be more. Many more.

My mother is working really hard at getting what ever medical files on the affected members of the family.  I don't know what help it will be but I think its good to keep her busy.

We are all worried about A.  I will complain a wee bit paying a 50 dollar copay for an unproductive visit.  At least that can be checked off our list. Now the waiting continues.

Sisters of Guilt

Today I had an interesting afternoon.   Its becoming more and more clear that A is suffering from LHON.  

The kids and I visited my mother.  It was really the first time we had a real chance to talk about it all.  She talked about how in 1978 she was asked by Tufts in Boston to be part of a study.  She spent the day being going though all kinds of tests.  She left being told she was a 'carrier' but that she only had to worry about it if she had sons. (she had three daughters)

She found her way there after her brother developed blindness and saw doctors at Tufts.  He was diagnosed with Leber's.  

One of my mother's unaffected brothers was also asked by Tufts to come down for a study. He believes it was only about 6 years ago.

My mother also shared other examples of further back family members then her own mother that suffered from vision problems and blindness.

So seeing a pattern here. How long can I stick my head in the sand waiting for the geneticist to come back to us.   I sent an email to the resident who is helping with our case and she is out of the office till next week.  So at the earliest it won't  hear till next Thursday (she really seemed to imply we would hear in a week or two.   (next week would be the start of the two)  

At the end of the day I was at my sister's table sharing with her what i have learned about LHON. (my sister has a 7 year old son) There was this moment where the three of us (my mother, my sister and me)  were talking about the mother guilt dealing with this.  How can any of us feel guilty? But we do.  For one moment one beautiful moment i feel so close to them both.

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.