Monday, December 27, 2010

Adventures in Christmas

I love Christmas. I have since before I could remember.  Its genetic my father loved Christmas.  This year was more different then any other. It wasn't bad it was just different. With new things all a little different.

The tree never really got its decorating finishing this year.(it was half decorated poor angel never made it on top)    We put our tree in three season sun room  (off our living room) and this year I really wanted it in the living room this year.   We decided to again put it in the sun room this year and see how its goes. (there is a lot of benefits to it being in the sun room) I felt the tree in the living room would be closer so Abby could enjoy it more.  (We are going to have it in the living room next year) Well its cold in the sun room. (one of the reasons we put it there a frozen Christmas Tree doesn't go  We never really finished it.  I realized on Christmas Eve it wasn't finished. 

Abby has recently joined the children choir.  Part of my plan to bring her music since she has lost so much of her vision.  On Christmas Eve she sang and it went very  but there was this one part where the children all went to sit with their parents when I realized my daughter was 'stuck' up front.  It all worked out but I was so scared she was upset. (she was fine)  I was so proud of her though.  I let her 'go'.  She was independent enough walk in with her group.  I am so proud.  Its just always something that apart of what she does. There isn't some  normal child activity  where I can drop her off with out going through her vision disability.  

We got back from church and decorated a gingerbread house and made cookies. Abby was so cute and she took a bunch of pictures during our gingerbread house build.  She actually didn't do that bad.  We had a great night.  I took note how much she enjoyed the tactile activity of building. (new tradition for sure) Then they were sent off to bed.  

Christmas morning was like most how Christmas morning is for most children.  The only exception being when she got up and ran to the tree She said "where are the presents?"  I had placed the presents in front of the sun room door hoping Abby could see them better that way and she honestly didn't see them at all till I pointed them out to her. It was kinda fun when Abby asked me (very innocently) if there was less presents this year.  There wasn't she couldn't see them all at once. It was funny because I thought I over did a bit this year.  So next year tree in the living room so Abby knows right were to look.   

I thought everything changed this year and really it was just like its always been...a wonderful family Christmas (with a few lessons learned)  I realize I didn't make much point in this blog post.  I wanted to write about our first Christmas since Abby lost her vision.  

Happy Holidays Everyone.  

Sunday, December 19, 2010

Homework Struggles

Wow we struggled with Braille homework tonight.  She gets upset sometimes that everyone else doesn't have to do this work when she does.   She is learning so quickly though.  I am so proud of her.  Is amazing how much progress she makes in just a week.  

She has learned the whole Braille alphabet. She can write it and read it.  She has moved on to words and its a bit more of a struggle but she is learning quickly.  She is being introduced to Braille grade 2 . Braille grade 1 is the alphabet with the words spelled out with each letter.  Braille grade 2 uses contractions (shorter versions of words), like e is braille grade 2 for every.  

Its all a lot for Abby to take on but really she can handle it but like every child homework is not fun.  So mommy and Abby didn't' have a fun hour while we got through her assignment that should have taken her 20 minutes. 

She just likes to prove she is still very a much a normal 6 year old.

Thursday, December 16, 2010

I am waiting.

I keep waiting for it to get easier.   Easier to watch Abby fall down a set of stairs in front of her school (very minor fall).  I keep waiting for my my heart to not sink when I realize Abby can't see me.  There are many times I forgot my daughter is visually impaired.  Then like a splash of cold water I am reminded.  Its always the same sad crushing feeling.

I love introducing my children to great art. Abby had her 6th birthday at a local art museum and it was a great party.  We also made a trip to another art museum in late spring were Abby loved sketching what she saw. It was so wonderful to watch her develop an appreciation of art. She noticed the details and the beauty.   Thats something that was taken from her.  Her ability to visually enjoy details.  It breaks me.
Abby enjoying art February and April of this year.

It will get easier right?

Tuesday, December 7, 2010

Braille Basics

Yesterday we took home a Perkins Brailler and today Abby got her first homework assignment from her TVI (Teacher of the Visually Impaired).  Its fun to learn this along with her.  Its amazing how much she is understanding.  Braille is going to open up lots of things for her. While she can see enlarged text is very difficult for her to get any fluency  from it and she can't read what she writes. Which is why the school is focusing on Braille instead of just magnifying her text. Abby's age is  also a factor since she was just at the beginning stages of literacy when she lost must of her sight.

The following picture is a Braille cell.

On the Brailler there is six keys that matches up a number in a braille cell.   So when Abby write an a lower case A she hits the 1 key. 
(pictures of Abby using Brailler) 

                                             (Abby in Braille using a lower case A)

Related links:
A video about the declining instruction in Braille
Braille Alphabet 
Braille Font

Monday, December 6, 2010

Life's New Words.

Teacher for the Vision Impaired
Orientation and Mobility
Long Cane
Extended Core Curriculum
Nemeth Code
These are just some of the new words and terms I have learned and become  part of my life the last few weeks. These are words that meant little to me before but now they have such a larger role in our life.

One of the big things Abby has done recent is last weekend she participated in a program at a local blind school.  She spent the whole weekend with other children with visual impairments.   It was amazing.  She also made some a special friendship.
Abby reading Braille
 Abby is learning Braille in school and is making great progress.  Abby is lucky because Braille instruction is in decline.  Braille is going to open up her world and keep her on grade level.  

Abby in a few weeks will be getting a cane to use to help her with getting around (especially in new environments)

So many big changes going on but all full of adventure and fun. Another parent sent me "Welcome to Holland" shortly after we received Abby's diagnosis and at the time It didn't seem to fit. It didn't make any sense to me.  Now .. now I get it. 

Monday, November 22, 2010

I am blessed.

I am blessed with amazing children. Both of them.   Its not a uncommon occurrence for me to get comments from complete strangers how well behaved my children are.  I am honestly not bragging. I don't think we did anything special with them.  They are just two children with naturally good temperaments.   

I am so proud of them when we got to teacher conferences and both children are talked about so nicely by their teacher.  

Its has amazed me how well BOTH Abby and Sam have been dealing with Abby losing her vision.  Sam is understanding times he was never was understanding before.  He watches out for his sister in ways he never did before. Its amazing. It used to Abby who would watch out for Sam. 

I don't think I will ever quite understand how Abby is adjusting as well as she is.  We know that won't always be the case but right now we are just amazed by how she is coping.   She still wakes up with a smile.  She doesn't sit around in her sorrows. She adapts. She is amazing. I never thought my daughter would become my hero. 

Today a group of girls walked quickly by Abby.  She turned calling  a friends name. Not only had they already gone but her friend wasn't even in the group.  She just shrugged it off. To me it was a shocking example of how much my daughter has lost.  To Abby it was just part of her new life. 

I am so proud and lucky to both of my children's mother.  Its an honor. 

Wednesday, November 17, 2010

Days Like these

What  a day. I am so tired.  This morning was Abby's first visit with a neuro-opthamologist in Boston.

A few lessons learned today.

  • Having a six year old  lose her vision is a very hard thing for a child to handle developmentally. 
  • I STILL wait for doctors to tell me that its all been a mistake and Abby doesn't have this problem.  
Abby had a hard time at this appointment. The office at Tufts was great. Abby has just had it today.  Abby did great at first. She was responsive during the vision part of the exam but when eye drops came out she got very upset. She was given two different sets of eye drops.   She completely pushed back.  They got the drops in the eyes but Abby wouldn't stay still anymore.  She kept her eyes shut and they had to pry them open.  Abby is generally a well behaved child. (a joy) 

Abby went on strike.  She refused to be any help with her appointment.  I had to balance my own frustrations to realizing my daughter is breaking on the inside.  

This is Abby's life and I got to respect that (to a point)  We had another doctor's appointment for next week and we are canceling it.  She will having more doctors appointments (some soon) but she really needs us to have less focus on her eyes I am doing everything I can for my daughter.  She deserve this.  Its not longer what is best for Abby but mommy waiting for a doctor to tell her is all some horrible nightmare. 

My heart crushed when instead of solutions for Abby's eye sight problem the doctor focused getting her support for low vision.  There is no magic wand. There isn't any fix.  

We are working with the doctor to work on supplements but beyond that there is not much they can do. 

Saturday, November 13, 2010

Season of Change.

So much has changed for us in such a short period of time.   Sometimes its the little things. Like Abby using the public bathroom. My sister noted a time she was with her and the stall wasn't that clean.  Abby couldn't see the detail enough to realize it wasn't really clean enough to use.  Something she has done a thousands of times.

Abby is going to be attending a Perkins School for the Blind outreach program in a weekend in December and I have this questionnaire to fill out.  Simple questions if Abby can do this and if she can do that.   I have had to pause so many times this morning and ask myself if I am answering it for Abby now or Abby when she could see.  I think i am going to finish it tomorrow.  When i try to answer for Abby today I just don't know some of the answers.  Looking at the questions (which must be the same for all ages)  I realize there is so many things Abby hasn't done on her own yet (due to age) that she is going to struggle learning. Like cooking.

So I am putting these papers away and are going to finish them later.

Wednesday, November 10, 2010

Educating my functionally blind daughter

Functionally Blind.   That's what the report said from the Teacher of the Visually Impaired said.  Its hard every time I hear it.  Reading the report was hard. When everything was laid out the way it was really showed how serious her problem is.

Some key points were that Abby can still see pictures in books well but struggles to see text even while enlarged. She has to be at least a foot from someones face to see emotions. She still involved and does quite well with physical education class.

The vision teacher is going to be teaching Abby Braille.  While she can see print enlarged normally (even this isn't consistent because it depends on the circumstances ) she will never develop a true reading fluency  with just text.  She was in the magically stage of reading of almost getting it but not quite.  She can read a lot of words (and does a remarkable job with spelling)  but when it comes to blending a sentence much is lost to her when its enlarged. 

There are many people with LHON who don't learn Braille for many different reasons. I think the age of onset is key. Its a personal choice for many. I think Braille will be an important tool in her education and should open a lot of things up for her. 

Its hard because I have never done this before. There is no handbook "How to educatioin your child who loses her sight at 6" She is so young and at such an important part of her education.

 I believe Abby can do it. It will be her accomplishment. I believe she will have many.

Saturday, November 6, 2010

October 27th

by Chris

That was the day...October 27th....the day of the appointment.

It seems like years ago now that LensCrafters threw up their arms and said they had no idea what was wrong with Abby's sight, and October 27th was the date her appointment with the ophthalmologist was scheduled.

That date came and went now...

In the intervening time between LensCrafters and that October 27th appointment, being impatient, fighting for answers, there were trips to ophthalmologists, geneticists, a neurologist, and so many phone calls, a meeting at Conant school with a dozen people, well, you get the point.

But the fact remains...

Abby in June of 2009 had 20/20 vision, and today... a year later, my daughter was measured to have 20/500 vision. She does have some peripheral vision which allows her to see a little, colored shapes so she is pretty good at not bumping into things, but she can be not 30 feet away within eye shot and she can say, "Daddy, talk to me so I know where you are..."

The other day, I handed her a quarter. She never looked at it, she carefully felt it with her fingers and said, "Thank you for my quarter, Daddy."

So with a sigh, I simply say...Abby is blind, and ask, okay, now what?

Well, next is a trip to yet another specialist, this time a neuro-ophthalmologist, more meetings with Conant school, maybe a few trips to a counselor, teaching her braille, etc, etc, etc...

The sprint for a diagnosis has become a marathon of everyday, with every decision, I ask two simple questions to help me stay the course. First, are we doing the right things for Abby? And second, does it help improve Abby's life?

Let the journey begin.

Splash of Water in the Face.

Today we went to Walmart.  Abby was very clingy. Much more then she has been and I found myself getting very frustrated with her. She didn't want to just hold my hand she is 6 and was being a kid but a kid that wanted to hold her mother's hand because she can't see a lot of things.   Then there was a moment when Abby couldn't see me and  I was about 5 feet in front of her.  I felt so bad I didn't think right away what I was suppose to do.

How does one learn to be a mommy to a little girl who could see  a few months ago but doesn't really now?  I feel like a horrible mother.  Isn't it suppose to be instinct. I should know just what to do. We have lived our lives a certain way for year and now I need to get know how to be Abby's mother in a whole different way.

Friday, November 5, 2010

Detective Abby

I have realized my bright little girl is a detective.   It has started to become clear that Abby doesn't see the details of peoples faces anymore.   She says she can see her parents faces very clear (which is very sweet)  Everyone else is very hard to tell who they are by their faces.  She has started to use clues to figure people out.  Clothes, hair color.   We were walking to the car after school and passed a girl with a poofy hair and Abby saw her and said hello. She knew who she was by her hair shape and the clothes she had on.

She says some people are easier to figure out then others.  If they have uncommon shape or color to their hair she has the most luck with them.  Its amazing.  She doesn't think must about it she just does it. She also has a really hard time talking about it and these details come out slowly.

So its amazing and really sad at the same time.

Tuesday, November 2, 2010

Its simply isn't fair.

I realizes this is an irrational rant.  Its never fair when bad things happens to people. Its doesn't make it any less true.

Abby is an amazing little girl that I am so proud of.  She has always been a good friend.  She is sweet and caring.  She isn't perfect but that is part of her charm.  She is sassy and opinionated. She is a risk taker.  When she decides she is going to learn something she keeps trying till she does.  I love my little girl.

First grade is hard enough without having to deal with not being able to see your friends on the playground and feel alone.  Its not reasonable to expect her classmates to realize that Abby can't see them and to seek out her.  

The excitement of learning.

One of the things I love about being a mother is watching my children learn. I love it when their eye sparkle when they finally understand something.  Sometimes I forget in all this that Abby is six.  She is in first grade.  She is still learning things for the very first time. Basic simple things. (as for learning to read which is a real struggle since she need letting magnified large to see them)

She shared with  me today how she finally tell the difference between a nickel and a quarter. She was so excited.   She showed me how she felt them and noticed how different they were. Abby is learning.  The pride she had is the thing mom's run on.

I showed Abby a coin in the middle of the palm of my hand.  She told me while she could see the hand she didn't see the coin.  Thats remarkable.    She adapting already to experiencing the  world in a whole new way.

I am so proud of Abby and I am sure we will share many years of learning excitement.

Saturday, October 30, 2010

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.

Thursday, October 28, 2010

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.

Tuesday, October 26, 2010

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.

Saturday, October 23, 2010


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. 

Friday, October 22, 2010


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.

Thursday, October 21, 2010

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.

Wednesday, October 20, 2010

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.  

Tuesday, October 19, 2010

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.

Monday, October 18, 2010

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.

Sunday, October 17, 2010

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.

Saturday, October 16, 2010

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 was made by her. Check out her amazing son  Jeremy (

Friday, October 15, 2010

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. 


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.

Wednesday, October 13, 2010


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.

Tuesday, October 12, 2010

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.

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.