A Year, A Journey

It was a year ago today that we got the DNA results that Abby was officially affected by Leber's hereditary optic neuropathy. That it was the cause of my 6 year olds vision loss. It wasn't just Abby but much of my family that could be affected one day. My son, myself, my sisters and my nephews.

Abby thinking

Its been a journey. At first the journey seemed to be full of does,diagnosis and the mystery but really the biggest challenge is living day to day. Its making sure Abby gets the best education she can. Its making sure that she can acieve every thing she was always meant to do. I have realized that my little girl isn't that little anymore more and she can really handle this.

Abby putting leaves in her hair

 A year later she is reading and doing amazing well in math. She still struggles catching up to her grade level in reading but I KNOW she will fill the gap quickly. Tonight she did her math homework almost all by herself. She asked what the questions were (there was only two) She then put paper in her brailler and answered it all on her own. She didn't want any help. I am so proud of Abby. I am proud of both my smart children. She has been enjoying not only reading with her me but with her father. She loves to share with us the contractions she knows. She loves it when she knows things that other people don't know. The future seemed so scary a year ago. Now it just seems like a maze that we may get lost going the wrong direction every now and then but we will find the way out and I KNOW Abby's future is bright.

Legacy of Blindness.

One of the interesting aspects of the disease that affects Abby is that its a mitochondrial genetic disease. Its actually very easy to follow it in ones family.  Abby got the gene from me, I got it from my mother, my mother got it from her mother and so forth.  While males have a greater chance of becoming affected they can not pass it on to their children.  Females pass it on to a 100% of their children so that means that my son has the gene as does all my sister and their children.

I have been come very interested in tracing the path of LHON in my family.  Trying to track down other related people who could become affected and/or pass it on to their children.  I wish I had known.  I am thankful having a family history to go us to our diagnosis quickly.  It takes some people months to even years to get a diagnosis.

My Grandmother Ruth with her Guide Dog Anna

Many people who have the gene do not have a known family history of vision loss.  I did.  So little was known in my family about this that I didn't even connect the dots that it was something that should concern us.  Everyone thought the reason for my grandmother blindness was completely unrelated to the cause for two of her sons going blind in adulthood.

On June 26, 1957 my grandmother graduated from the Guide Dog Foundation for the Blind. A newspaper story from the time say she was the first graduate from NH.  I don't know if that was correct but  she was definitely one the earliest.  Its quite a thing when have a daughter who has become interested in guide dogs a lot recently.

a snippet from a a news story.

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Guide Dog Foundation - http://www.guidedog.org

LHON.org - http://www.lhon.org/

Worst Birthday EVER!!

Abby turned 7 this past weekend. We had a full weekend planned with lots of excitement.  Most of the weekend had to be scrapped though because Abby became ill.  She told me a few times that this was the "Worst Birthday Ever".  She really loves to be a little over dramatic but she really did not enjoy herself one bit.

It  just broke my heart. You can't plan when you are going to end up unwell.  It was just sad that for all the weekends during the year Abby's birthday weekend was the one that she had to not feel so good. 

She will forgot with time how horrible it all was. I have a VERY special outing planned in a few weeks for her birthday and we still have her birthday dinner coming up.

I can't help but think of her birthday last year. She had a party with lot of school friends.  It was a great time.  (we always do parties every other year and plan a special outing on the 'off' year) Last year she had normal vision. She didn't have the cares she does now. Her life was just more simple.

So looking back perhaps this birthday was the worst for it was the first birthday since the vision loss.

I am so proud being Abby's mother it doesn't mean my heart still doesn't break.

The new normal.

I have come here and started writing different posts many times over the past two weeks.  There is never a day I forgot about Abby's visual impairment.  I sometimes forget for little bits at time. When getting the kids ready for school Abby many times has lost a required item like a hat or a glove.  Its gets very frustrating  and my volume raises and I usually find my self pointing out to her. "ITS RIGHT THERE."  She will look at me confused and will say "Where? "  Then I usually feel really bad about even asking her.  

One of the biggest challenges is getting Abby to be more organized.  She has always been an unorganized child.  Its just part of who she is.  She needs to learn to put things in a proper places that easy to remember its location.  

There is no book you can buy to give you all the answers.  Believe me I have looked.  Keep looking for titles like "Your 6 old Daughter has lost her sight, Now What"   "Dealing with your child's visual loss" "Handbook to vision loss"   sigh... They don't even have books about blindness at all in the bookstore. 

Abby is doing great at times but she still  meets me after school with a sad face.  My beautiful social butterfly is heartbroken that  the drama of friendships at age 6 has gotten much more complicated.    She has some great friends but they really don't understand that Abby can't play tag or hide-and-go-seek. 

I know Abby is going to figure it out. I know she is going to do well its just breaks my heart the simple little things she has lost. 

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.  

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. 

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. 

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.

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.

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.

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.

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.

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.

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.

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.

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)