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
As always our love to your (our) family. We need to set a playdate for Aves and Cady
ReplyDeletetil then
Love Aunt Mandi