Well I am late to update again... and boy is there a lot to to update on!! Just a heads up this is gonna be a long post.
As 2011 came to a close we thought so would a lot of our questions... not exactly how things have panned out.
So in 2012 we were given a diagnosis of LCA, Lebers Congenital Amarosis. Then in February that was taken back, because the genetic confirmation tests didn't confirm it. There are 17 known genes that cause LCA, so of those known genes, Aves were all normal. All that really means is we are back to the drawing board. Averie or Averies previously drawn blood is still part of igene, so we could potentially hear new news at any time. Now with the LCA off the table, the Doctors have us keeping an extra eye on how Aves continues to develop. Mainly they are using this time to see if any other symptoms present themselves. In the grand scheme of things we have been beyond fortunate enough to have caught Averies condition at an exceptionally early age/stage. So looking for other symptoms to develop could essentially narrow down and rule out other potential diagnosis.
So with one foot forward, life does goes on, and on some positive notes, it's been nice to not have doctors appointments, (at least not for eye related issues that is). In January we finalized Averies IEP and I am happy to report that everyone involved with that process was beyond helpful, encouraging and actually the whole process went very smoothly and drama free. Averie started Braille at her elementary school, which is very exciting for several reasons. 1. She will be very acclimated to her school when she starts going there for KINDERGARTEN in August... boy does time fly!!! 2. Learning Braille now will ensure Averie is able to be as independent as she wants to be and not totally reliant on technology. Averie also learned to ride her bike without training wheels!!!! This was one of the things that I was worried about Averie not being able to do when we first got the ONA diagnosis. It's nice to know that even with the potential of further vision loss to come she will always be able to ride a bike!!! I am also happy to report that we have not seen any developmental changes in Averie. We also got an IQ evaluation done which made me feel much better about where Aves is cognitively and it also provides a baseline for the future if anything were to start to change so that we can, again, catch things early.
As many of you know my family and I have found our way to The Foundation Fighting Blindness(FFB) I am beyond impressed with the people I have met so far that are affiliated with this foundation. I haven't participated with very many events but the few I have, I have met some really great people and they are SO enthusiastic about the research and medical break through that the Blind community has seen in the last year and a half that I know with out a doubt that we are on the right track. Speaking of track, many of you might also be aware that on Saturday, May 5th, 2012, my family and I will be participating in FFB 's signature fundraising event the VisionWalk2012 in Reston. I want to personally invite everyone to come walk with us and join our team, "All eyes on Aves". Anyone who walks with us will recieve a T-shirt and there is also a T-shirt contest the day of the walk as well. Since this is my first year being involved with this Foundation my main goal this year isn't so much monetary as it is awareness. My main goal is to have 40 people walking with us. If I can get everyone aware of this Foundation I feel it will allow us, for the years to come, to gain momentum for my fundraising efforts ect. I think getting people to know and understand just how close science is to finding cures (and not just for blindness) is truley astounding! Of course I do also have a personal goal of raising $2000, but there isn't a minimum if you just want to come out and support our Aves. If you do plan to walk it is VERY important to register (everyone individually in your family) for our team and you can do that by going to http://www.blindness.org/ click on the yellow VisionWalk icon and find our team (All eyes on Aves) and join it, again the more the merrier. I hope to update this blog again before the walk and of course again after the walk with pictures. Speaking of which if anyone knows of a good photographer that would be willing to attend the walk and take pictures of our awesome team please let me know or pass along my info!
XOXO
~A
Sunday, April 1, 2012
Saturday, October 15, 2011
I think I can, I think I can....
I know I have left everyone on pins and needles this week and I am so sorry. I'm going to be completely honest. I am a mess. I want to keep everyone in the loop though so I'll apologize now if this isn't written in my usual tone...
Since my last post in May and the one I just threw in a few things have changed. One; Averies eyes are getting worse. There are now significant changes to her Retina. This came as a shock to me and probably the main reason I haven't been doing as well as I once was. So the ERG I originally thought we would have in July ended up getting done in September. It was pushed back for several reasons. One Dr. Brooks wanted to bring in a third specialist Dr. Zein; two and the main reason was because the consensus between the doctors was it was a test that was just going to be done to cover all bases they didn't think the Retina was the cause but getting it done and having it in the chart was a good idea. Shocker 1. It came back abnormal. It was abnormal in the sense that Dr.Zein couldn't completely interpret it without researching it further. Which meant we need to follow up with him. This follow up was what we were doing last week 10/12/11.
As upset and down as I am right now I know I will get through this and I know Averie is at the right place (NIH and Childrens) and I know the team of doctors are doing the
very best they can for her.
Dr. Zein and Dr. Brooks confirmed that Averie does have both
a retinal diseas as well as optic nerve atrophy. They feel/fear the vision loss will continue but have no idea how much or for how long. They think we have actually caught this very early. So early that not all of the "symptoms"
have presented; which might explain why Averie hasn't fit
into specific categories. Averie is currently enrolled in
iGene; which is set up to test her blood that has already
been given anytime anywhere. This is huge and I'm not doing it justice right now. Maybe I'll blog all about that in the future.
With this new information it's a bit of a waiting game now. We go back to NIH in Fedruary if we see anything manifest, if not we could go back as late as May. I know I need to stay positive and I will but right now it's hard and I guess I need some time.
Again thank you ALL for everything and please know I am so sorry for not writing sooner. Once I can wrap my head around things better I'll write more.
XOXO
~A
Since my last post in May and the one I just threw in a few things have changed. One; Averies eyes are getting worse. There are now significant changes to her Retina. This came as a shock to me and probably the main reason I haven't been doing as well as I once was. So the ERG I originally thought we would have in July ended up getting done in September. It was pushed back for several reasons. One Dr. Brooks wanted to bring in a third specialist Dr. Zein; two and the main reason was because the consensus between the doctors was it was a test that was just going to be done to cover all bases they didn't think the Retina was the cause but getting it done and having it in the chart was a good idea. Shocker 1. It came back abnormal. It was abnormal in the sense that Dr.Zein couldn't completely interpret it without researching it further. Which meant we need to follow up with him. This follow up was what we were doing last week 10/12/11.
As upset and down as I am right now I know I will get through this and I know Averie is at the right place (NIH and Childrens) and I know the team of doctors are doing the
very best they can for her.
Dr. Zein and Dr. Brooks confirmed that Averie does have both
a retinal diseas as well as optic nerve atrophy. They feel/fear the vision loss will continue but have no idea how much or for how long. They think we have actually caught this very early. So early that not all of the "symptoms"
have presented; which might explain why Averie hasn't fit
into specific categories. Averie is currently enrolled in
iGene; which is set up to test her blood that has already
been given anytime anywhere. This is huge and I'm not doing it justice right now. Maybe I'll blog all about that in the future.
With this new information it's a bit of a waiting game now. We go back to NIH in Fedruary if we see anything manifest, if not we could go back as late as May. I know I need to stay positive and I will but right now it's hard and I guess I need some time.
Again thank you ALL for everything and please know I am so sorry for not writing sooner. Once I can wrap my head around things better I'll write more.
XOXO
~A
Nothing Grand about it...
Well I am late to update again... However, I did write this back on June 6th and never posted...SORRY .
So we went to "Grand Rounds" and let me start by saying calling it grand was a tease. It was anything but GRAND. However, I am glad we went. We did get to meet the famous Dr. Brian Brooks from The National Eye Institute. I have been trying to get into see him for over a month with no luck, so it was a pleasent surprise meeting him, and we really liked him too so that was a plus. So Dr. Brooks is pretty much going to be taking over Averie's case. We will still stay in touch with Dr. Avery but for now it seems that Dr. Brooks will be running the show. We see him in July for an ERG, from what I have gathered this is like an EKG of the eye. Little electrodes will be placed on Averie's eye and wrist, and then a series of lights will be flashed and this will monitor what she is seeing/registering. Averie will be given a mild sedative to help her forget the process. My sister Mollie (Ma2 as Averie calls her) has had this done and remembers vaguely of something being put on her writs but doesn't remember anything on her eye, so that makes me feel much better about the whole procedure. I think...
So we went to "Grand Rounds" and let me start by saying calling it grand was a tease. It was anything but GRAND. However, I am glad we went. We did get to meet the famous Dr. Brian Brooks from The National Eye Institute. I have been trying to get into see him for over a month with no luck, so it was a pleasent surprise meeting him, and we really liked him too so that was a plus. So Dr. Brooks is pretty much going to be taking over Averie's case. We will still stay in touch with Dr. Avery but for now it seems that Dr. Brooks will be running the show. We see him in July for an ERG, from what I have gathered this is like an EKG of the eye. Little electrodes will be placed on Averie's eye and wrist, and then a series of lights will be flashed and this will monitor what she is seeing/registering. Averie will be given a mild sedative to help her forget the process. My sister Mollie (Ma2 as Averie calls her) has had this done and remembers vaguely of something being put on her writs but doesn't remember anything on her eye, so that makes me feel much better about the whole procedure. I think...
Tuesday, May 3, 2011
Which form of proverb do you prefer Better late than never, or Better never than late?
I am late to update... SORRY.
So on February 15th Averie had her blood drawn for the genetic testing, she did awesome! On April 8th we got word that the genetic test came back normal. While that sounds great, it also puts us back to square one; we still have no explanation for Averie's vision loss or why her Optic nerve is atrophic. Also, with the normal genetic test results the prospect of Averies eyes not getting worse was also off the table, (at least until we can find the cause of the atrophy). So we were back at Children's this past week for more tests in preparation for Grand Rounds at the end of May. Grand Rounds is like a revolving door of 10-15 Doctors from around the country all with the specialty of Neuro Ophthalmology coming in to examine Averie and then at the end of the day they all sit down together and hopefully someone in the group will be able to shed some new light on the situation. It's going to be a long day for everyone. Thankfully one of the Nurse Practitioners at Averies pediatricians’ office has offered to accompany us to the Grand Rounds. I am beyond thankful to have someone there that can understand all the medical terms that will be flying around. THANK YOU RACHEL, that is seriously awesome of you!
At some point in March I started noticing Averies eyes roaming or lagging when she would look at me. I've said it before when she looks at me it's almost like she is looking thru me, it is very eerie. I've also had several people that know (and love) Aves ask me "are they sure? meaning are the doctors sure, because to them Aves seems totally normal. I totally understand where this is coming from, I too thought it. (but we have been to Hopkins and Children’s) I have even talked with Dr. Avery about this in great detail. Here is the answer I've compiled with Dr. Avery's input and also living it.
Aves has always seen poorly, this is most likely something she was born with. I remember when Aves was an infant she never picked up small things and put them in her mouth, it got to the point where I even stopped worrying about the little things that were choking hazards because she NEVER paid them any attention. Aves would never crawl over to a wall to scope out a light socket. She never saw them.
I also think that Averies other senses were have become heightened as well. I remember we thought it was so funny that Averie would crawl as fast as she possible could when we would shake the box of dog biscuits. We even entered her into a WMZQ Diaper Derby and used the dog biscuits as her incentive. It was the noise.
Aves has an UNCANNY sense of smell and is also very sensitive to foul smelling things. I remember Aves was not even two years old and I had to start to keep drier sheets in my car so she could smell them to mask the smell of fresh mulch or a skunk that was a recent victim of roadkill. Or the spilled breast milk in my car, I wont go into details it wasn't pretty but you get the idea.
Bottom line is Averie has adapted, and will continue to adapt. It is still hard for me and I see her every day to accept this diagnosis I am very thankful that Averie is high functioning for such an impairment. We are on the right track to get this all figured out and maybe one day a cure :).
Update more when I can and definitely after Grand Rounds in May.
~A
So on February 15th Averie had her blood drawn for the genetic testing, she did awesome! On April 8th we got word that the genetic test came back normal. While that sounds great, it also puts us back to square one; we still have no explanation for Averie's vision loss or why her Optic nerve is atrophic. Also, with the normal genetic test results the prospect of Averies eyes not getting worse was also off the table, (at least until we can find the cause of the atrophy). So we were back at Children's this past week for more tests in preparation for Grand Rounds at the end of May. Grand Rounds is like a revolving door of 10-15 Doctors from around the country all with the specialty of Neuro Ophthalmology coming in to examine Averie and then at the end of the day they all sit down together and hopefully someone in the group will be able to shed some new light on the situation. It's going to be a long day for everyone. Thankfully one of the Nurse Practitioners at Averies pediatricians’ office has offered to accompany us to the Grand Rounds. I am beyond thankful to have someone there that can understand all the medical terms that will be flying around. THANK YOU RACHEL, that is seriously awesome of you!
At some point in March I started noticing Averies eyes roaming or lagging when she would look at me. I've said it before when she looks at me it's almost like she is looking thru me, it is very eerie. I've also had several people that know (and love) Aves ask me "are they sure? meaning are the doctors sure, because to them Aves seems totally normal. I totally understand where this is coming from, I too thought it. (but we have been to Hopkins and Children’s) I have even talked with Dr. Avery about this in great detail. Here is the answer I've compiled with Dr. Avery's input and also living it.
Aves has always seen poorly, this is most likely something she was born with. I remember when Aves was an infant she never picked up small things and put them in her mouth, it got to the point where I even stopped worrying about the little things that were choking hazards because she NEVER paid them any attention. Aves would never crawl over to a wall to scope out a light socket. She never saw them.
I also think that Averies other senses were have become heightened as well. I remember we thought it was so funny that Averie would crawl as fast as she possible could when we would shake the box of dog biscuits. We even entered her into a WMZQ Diaper Derby and used the dog biscuits as her incentive. It was the noise.
Aves has an UNCANNY sense of smell and is also very sensitive to foul smelling things. I remember Aves was not even two years old and I had to start to keep drier sheets in my car so she could smell them to mask the smell of fresh mulch or a skunk that was a recent victim of roadkill. Or the spilled breast milk in my car, I wont go into details it wasn't pretty but you get the idea.
Bottom line is Averie has adapted, and will continue to adapt. It is still hard for me and I see her every day to accept this diagnosis I am very thankful that Averie is high functioning for such an impairment. We are on the right track to get this all figured out and maybe one day a cure :).
Update more when I can and definitely after Grand Rounds in May.
~A
Sunday, January 30, 2011
Monday is a lame way to spend 1/7 of your life.
Of all the days of the week Monday's are my least favorite by FAR. However, I've been fretting this particular Monday for almost two weeks now.
Firstly it is the deadline I had given my health insurance company on getting Averie's prior authorization approved. I was being patient but I have slowly been losing that battle. My mind has started racing, full of what if this test only brings us more questions. I think that's my biggest fear. My brain is geared to making game plans, and getting things done and moving on. Certainly not waiting. So tomorrow the phone calls and harassing begin. First with my insurance company and then with Children's if need be. Secondly, Monday's always seem to be the busiest at work. I have an onsite on Tuesday that has the potential of being a huge deal if all goes well, but all the prep for it has to be done tomorrow. Lastly, I start my hard core diet on Tuesday, so tomorrow is my last day of eating whatever I want. All three of these things in their own way make me excited, but also nervous at the same time. It's so crazy how 2011 has really turned into one of the most event filled years of my life and it's only January 31st!!!! Feels like an entire year has gone on in the last 31 days of my life.
XOXO,
~A
P.S.
Brie has also been officially moved to her crib, which I have been selfishly putting off until now. It's night three and actually going better than expected. Friday night was AWFUL, Saturday night wasn't bad and tonight she actually acted like she wanted to go to sleep in it... my briebaby is growing up!!!!
P.P.S
i know that i should be capitalized but i actually like lower case i's better... :)~
Firstly it is the deadline I had given my health insurance company on getting Averie's prior authorization approved. I was being patient but I have slowly been losing that battle. My mind has started racing, full of what if this test only brings us more questions. I think that's my biggest fear. My brain is geared to making game plans, and getting things done and moving on. Certainly not waiting. So tomorrow the phone calls and harassing begin. First with my insurance company and then with Children's if need be. Secondly, Monday's always seem to be the busiest at work. I have an onsite on Tuesday that has the potential of being a huge deal if all goes well, but all the prep for it has to be done tomorrow. Lastly, I start my hard core diet on Tuesday, so tomorrow is my last day of eating whatever I want. All three of these things in their own way make me excited, but also nervous at the same time. It's so crazy how 2011 has really turned into one of the most event filled years of my life and it's only January 31st!!!! Feels like an entire year has gone on in the last 31 days of my life.
XOXO,
~A
P.S.
Brie has also been officially moved to her crib, which I have been selfishly putting off until now. It's night three and actually going better than expected. Friday night was AWFUL, Saturday night wasn't bad and tonight she actually acted like she wanted to go to sleep in it... my briebaby is growing up!!!!
P.P.S
i know that i should be capitalized but i actually like lower case i's better... :)~
Friday, January 14, 2011
Little bit of this and a little bit of that.
This week I haven't been sleeping very good, I find myself remembering situations with Averie that are now very obvious signs of just how much she truly can't see. I remember being at her soccer practice and when they would break for a drink she would kind of wonder aimlessly around, I specifically remember thinking to myself "What is she doing, she looks like she can't see where all the water bottles are lined up." Or when practice was over Aves wouldn't be able to find us, even though we (like seven of us) sat in the same spot the whole game, again I specifically remember thinking "It looks like she is looking right thru me, how does she not see me?" Mollie and I have experienced similar situations seperatly at the grocery store. Where Aves will be looking at something on the shelf and not see us move down the isle maybe four or five feet away and all of a sudden Averie literally starts to panic and starts screaming our names while turning around in circles searching for us, all the while, eeirly looking right thru us.
I know there isn't more I could have done, I know I am doing everything I can now, I still feel terrible. I want to think that I am remembering all of these situations because I am now starting to get answers, and I am not in denial about what this diagnosis means for our future. But I am afraid these memories are going to haunt me (forever). I feel like I know Aves has vision problems but I don't know to what caliber, like I can't relate. I wish there was a way for me to see what she sees to get an idea of what her world is. I am going to make sure to ask the doctor about that. I would imagine there is maybe a pair of glasses I could get that would mock what Aves sees, (kind of like the beer goggles that are out there).
Another one of my late night thoughts was about me getting lasik. I got lasik back in November 2007 and it was mainly for Averie, she was almost one and I did like being unable to see her in the middle of the night without finding my glasses first or haveing to wear my glasses in the pool, or playing softball in the rain with glasses was such a pain. NOW I wish I hadn't had the lasik I know that sounds so stupid but maybe then I could relate...
Ugh, is my favorite onamonapia.
XOXO,
~Annie
I know there isn't more I could have done, I know I am doing everything I can now, I still feel terrible. I want to think that I am remembering all of these situations because I am now starting to get answers, and I am not in denial about what this diagnosis means for our future. But I am afraid these memories are going to haunt me (forever). I feel like I know Aves has vision problems but I don't know to what caliber, like I can't relate. I wish there was a way for me to see what she sees to get an idea of what her world is. I am going to make sure to ask the doctor about that. I would imagine there is maybe a pair of glasses I could get that would mock what Aves sees, (kind of like the beer goggles that are out there).
Another one of my late night thoughts was about me getting lasik. I got lasik back in November 2007 and it was mainly for Averie, she was almost one and I did like being unable to see her in the middle of the night without finding my glasses first or haveing to wear my glasses in the pool, or playing softball in the rain with glasses was such a pain. NOW I wish I hadn't had the lasik I know that sounds so stupid but maybe then I could relate...
Ugh, is my favorite onamonapia.
XOXO,
~Annie
Tuesday, January 11, 2011
"A diploma only proves that you know how to look up answers". Solomon Short
1/11/2011, what a date.
So, we are back form Childrens and I am doing better than I thought I would be. I think I had researched ONA enough over the last four days that I wasn't surprised by anything Dr. Avery had to say... So what Dr. Avery did have to say is this; pending a Genetic blood test, (that i need preauthorization from my health insurance for), Dr. Avery believes Aves has Kjer's Optic Nerve Atrophy. This is a genetic disease that currently there is no effective therapy for. Aves will never see any better than she sees right now, she will never drive a car, (unless, like my Dad and Mollie pointed out, something COULD change in medicine before she is even eligible to drive in 12+ years). So on a positive note, while her vision wont ever get any better, it also shouldn't get any worse. Which makes me thankful that we did catch this when she was 4 and not 14. How she sees things now, is how she will always see things... so her "normal" is what it is.
Of course I am still taking it all in, but I can already feel my mood shifting from sorrow to preditorial for lack of a better description (I am the mama bear, and she is my cub). I feel like I had educated myself well going into this appointment and I am going to keep educating myself. Aves will be closely monitored for changes in her vision and in the meantime I will be researching what our next step is, to make sure Aves continues to be mainstreamed and not fall behind or more importantly ever feel left behind because of this diagnosis.
I would like to THANK ALL of you who commented, text messaged, facebooked, or emailed me, or my family. It meant SO much to hear all your kind words. I do plan on continuing to post on here... I'm not much of a writter but this has really helped me focus my thoughts which has seriously enabled me to function.
Love you all,
XOXO
~A
So, we are back form Childrens and I am doing better than I thought I would be. I think I had researched ONA enough over the last four days that I wasn't surprised by anything Dr. Avery had to say... So what Dr. Avery did have to say is this; pending a Genetic blood test, (that i need preauthorization from my health insurance for), Dr. Avery believes Aves has Kjer's Optic Nerve Atrophy. This is a genetic disease that currently there is no effective therapy for. Aves will never see any better than she sees right now, she will never drive a car, (unless, like my Dad and Mollie pointed out, something COULD change in medicine before she is even eligible to drive in 12+ years). So on a positive note, while her vision wont ever get any better, it also shouldn't get any worse. Which makes me thankful that we did catch this when she was 4 and not 14. How she sees things now, is how she will always see things... so her "normal" is what it is.
Of course I am still taking it all in, but I can already feel my mood shifting from sorrow to preditorial for lack of a better description (I am the mama bear, and she is my cub). I feel like I had educated myself well going into this appointment and I am going to keep educating myself. Aves will be closely monitored for changes in her vision and in the meantime I will be researching what our next step is, to make sure Aves continues to be mainstreamed and not fall behind or more importantly ever feel left behind because of this diagnosis.
I would like to THANK ALL of you who commented, text messaged, facebooked, or emailed me, or my family. It meant SO much to hear all your kind words. I do plan on continuing to post on here... I'm not much of a writter but this has really helped me focus my thoughts which has seriously enabled me to function.
Love you all,
XOXO
~A
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