Emily was born in February. The summer of the first year of Emily's life (2007) we noticed she squinted a lot. Thank heaven's she's stopped that for the most part unless it's REALLY bright. My daughter is normally incredibly cute, however, when she squints it twists her face up and she looks quite ogre-ish. She would often get comments like "oh, she's going to cry," and one man even said "man, that's really an ugly face!" (I was about to go "Crouching Tiger" on his you-know-what.) The other main symptom that we noticed was that her one eye (sometimes both) wiggled back and forth.
AUGUST - On one of our routine checkups when we brought up both of these symptoms to the pediatrician, the doctor told us that these symptoms were fairly normal for a baby to have in their early stages of life. He sent us home with no diagnosis, feeling slightly defeated, but also encouraged with the idea that she could be perfectly fine.
OCTOBER - As she grew older and she passed the "baby-eye-wiggle-being-perfectly-normal" stage we started to get a bit worried. Through my research I quickly discovered that this was "nystagmus." I also was terrified by the fact that this could be a possible side-effect of a brian tumor. This is when the doctor told us to go see a specialist (pediatric opthomologist), which we did.
JANUARY - On our first visit with the specialist he said that a probable diagnosis is Spasmic Nutans (sp?), a fairly rare occurance - he had only seen one case in his practice. He said that this is a form of nystagmus that shows up in or around a child's 7th month and last for a few years before going away completely. He did want to rule out the possibility of tumor, which he said wasn't likely because she was developing and learning at a normal rate. The "squinting," he said, was completely normal for babies and young children, and completely unrelated. So, we went home with a hopeful prognosis that this was temporary - and even if it wasn't, and the nystagmus persisted, it was nothing that was going to hold her back in life. We scheduled a follow up appointment for January, 2009 and left with directions to get an MRI done in the meantime. My intuition doubted the diagnosis.
JUNE - We went for an MRI (which showed no tumor) that took us many months to get. The waiting period was stressful. But worth it. We pushed the MRI back from April to June because my insurance kicked in and completely covered it. If we'd had it done without the better insurance plan it could have cost us up to $5,000! I felt extremely guilty about pushing it back, but the doctor assured us that we shouldn't worry about it. I can't even imagine how horrible I would have felt if she DID wind up having a brian tumor! Rich said that the sight of his little girl going limp on the table made him sick.
AUGUST - By this summer (2008) we were keenly aware of Emily's inability to see outdoors. I called the specialist and told them to move the appointment up as far as possible, because there was definitely something wrong. When I told the office secretary that my reasoning was because my daughter couldn't see in daylight, she sounded doubtful. I informed her that I'd take the doctor right outside if I had to (and I would)!
OCTOBER - Just a few days before Emily's appointment, I crossed paths with a dad who had two kids that seemed to have the same symptoms as Emily. He told me his kids have Cone Rod Dystrophy. I checked it out online and after reading what seemed like endlessly, I deduced that Emily probably had Cone Dystrophy. I brought back-up paper work to the doctor's appointment, but I never had to use it. The specialist spent a lot of time with her, dilated her pupils and spent a lot more time with her and he referred us for an ERG.
Finally we were getting somewhere!
Coming up....
A Chance Meeting that Changed our Lives
Getting Diagnosed - The ERG
Disney Vacation - Fun in the Sun?
Friday, December 5, 2008
Tuesday, December 2, 2008
Thankful Memories - Halloween and Thanksgiving with Achromatopsia
Funny moment of the day: At work - after speaking with a representative and asking him to email an invoice to me - instead of saying "thanks" and hanging up - I say "bye-bye!" I said it in mommy-speak, pronouncing the full form of the word. The man was flustered for a moment before responding "ba-bye." Oh, the joys of being a mommy!
I believe that Halloween may turn out to be Emily's favorite holiday, simply because most of the fun happens at night (in the dark when she can see)! We took her trick-or-treating at her cousin's house which is in a wonderful new development with a ton of young families.
Before our diagnosis, I, and some of my friends used to joke around about how Emily might be a vampire, and how of course she would be - being the spawn of an undead herself (me). Well, eerily, Halloween's events had me a little spooked. In the far reaches of my mind I began to wonder if vampires really did exist. I'm reading Stephen King's "Dark Tower" series, which undoubtedly exacerbated these thoughts!
Emily was fascinated with the scarier side of Halloween. Sure, she was having fun getting candy. By the end of the night she was dragging her pumpkin container along the sidewalk because it was so heavy! She stubbornly wouldn't let me or Rich carry it. She not only kept up with the other kids, but at times she was leading the pack! While she seemed to be thrilled with running from house to house she was downright entranced by the "haunted" garages. As the older kids ran and screamed in fright she wanted to go up to and touch the scary characters!
I'm not sure, but I think her sightlessness during the day has enabled her to develop a certain level of fearlessness. I think this fearlessness translates into other aspects of her life when she can see. Or perhaps it's the opposite. Maybe because she can finally see at night, she feels like she all of a sudden has super powers and she'll try anything!
Thanksgiving dinner was interesting at my in-law's house. The conversation hovered around high-blood pressure, colonoscopies and who's getting a physical from what physician's assistant. The icing on the cake was when our nephew (age 7) spoke about what he was thankful for. He said he was thankful for bathrooms, "because without toilets, there would be poop all over the floor!" I am thankful for Emily and the way she is. I'm actually proud of her. I think she's the coolest little chica - who refuses to eat turkey!
I believe that Halloween may turn out to be Emily's favorite holiday, simply because most of the fun happens at night (in the dark when she can see)! We took her trick-or-treating at her cousin's house which is in a wonderful new development with a ton of young families.
Before our diagnosis, I, and some of my friends used to joke around about how Emily might be a vampire, and how of course she would be - being the spawn of an undead herself (me). Well, eerily, Halloween's events had me a little spooked. In the far reaches of my mind I began to wonder if vampires really did exist. I'm reading Stephen King's "Dark Tower" series, which undoubtedly exacerbated these thoughts!
Emily was fascinated with the scarier side of Halloween. Sure, she was having fun getting candy. By the end of the night she was dragging her pumpkin container along the sidewalk because it was so heavy! She stubbornly wouldn't let me or Rich carry it. She not only kept up with the other kids, but at times she was leading the pack! While she seemed to be thrilled with running from house to house she was downright entranced by the "haunted" garages. As the older kids ran and screamed in fright she wanted to go up to and touch the scary characters!
I'm not sure, but I think her sightlessness during the day has enabled her to develop a certain level of fearlessness. I think this fearlessness translates into other aspects of her life when she can see. Or perhaps it's the opposite. Maybe because she can finally see at night, she feels like she all of a sudden has super powers and she'll try anything!
Thanksgiving dinner was interesting at my in-law's house. The conversation hovered around high-blood pressure, colonoscopies and who's getting a physical from what physician's assistant. The icing on the cake was when our nephew (age 7) spoke about what he was thankful for. He said he was thankful for bathrooms, "because without toilets, there would be poop all over the floor!" I am thankful for Emily and the way she is. I'm actually proud of her. I think she's the coolest little chica - who refuses to eat turkey!
Monday, December 1, 2008
Nystagmus, Black Spot of Vision and the Next Steps
This tickles my funny bone. So, my husband has the day off from work today. He calls me (at work) and tells me that his best buddy also has off from work and they're going out to breakfast like a couple of old men! Rich, my husband, is 30 and his friend, Mike, just turned 40. To help you visualize this comical picture, I'll have you know that Rich and Mike are commonly referred to as Yogi and Booboo. Mike is towers over rich being at least 6'4" and Rich is 5'6". They're a funny pair, but I'm glad Rich has a good friend like Mike.
Mike also has a special needs child. His son has downs syndrome and suffers from nystagmus. He's a sweetie. Emily's nystagmus isn't too pronounced. Somebody wouldn't notice it unless they were staring into her eyes. And it doesn't happen all the time. It seems to get worse when she's tired or stressed. I only notice it strongly in one eye (her right) and occasionally I see her wiggle her head, as I'm told children with nystagmus might try to do to compensate for it. But she only does this very rarely.
On the other hand, something that she does very often is lower her chin, tilt her head down and look intensely at strange things or people, with a slight squint that gives her countenance a fierce lilt. I've labeled this common occurrence as her "scrutinizing eyes." It is very intimidating - and often strangers take it as her not liking them... when really I think she's just trying to see them.
From what I've read, achromats may have a small area of vision loss directly in the center of their eye, which I've come to think of as sort of like pixels missing from an LED screen (because they are missing on our digital camera! - my fault - I left the camera in the freezing cold car once and now a few pixels are missing from the center of the screen... weird!). So, as an achromat, perhaps Emily tilts her head to look around this void in her vision.
Today I'm making it my mission to find out what to do next. My big question is - do I qualify for, and if I do - how do I receive - special aid? I've left messages at the specialist who diagnosed the condition using an ERG (electroretinagram) and at a local low vision specialist. I also called the nice mom who tipped us off that Emily could have this condition. I'll tell that story later. As well as the ERG experience. Both tales are tearjerkers.
Mike also has a special needs child. His son has downs syndrome and suffers from nystagmus. He's a sweetie. Emily's nystagmus isn't too pronounced. Somebody wouldn't notice it unless they were staring into her eyes. And it doesn't happen all the time. It seems to get worse when she's tired or stressed. I only notice it strongly in one eye (her right) and occasionally I see her wiggle her head, as I'm told children with nystagmus might try to do to compensate for it. But she only does this very rarely.
On the other hand, something that she does very often is lower her chin, tilt her head down and look intensely at strange things or people, with a slight squint that gives her countenance a fierce lilt. I've labeled this common occurrence as her "scrutinizing eyes." It is very intimidating - and often strangers take it as her not liking them... when really I think she's just trying to see them.
From what I've read, achromats may have a small area of vision loss directly in the center of their eye, which I've come to think of as sort of like pixels missing from an LED screen (because they are missing on our digital camera! - my fault - I left the camera in the freezing cold car once and now a few pixels are missing from the center of the screen... weird!). So, as an achromat, perhaps Emily tilts her head to look around this void in her vision.
Today I'm making it my mission to find out what to do next. My big question is - do I qualify for, and if I do - how do I receive - special aid? I've left messages at the specialist who diagnosed the condition using an ERG (electroretinagram) and at a local low vision specialist. I also called the nice mom who tipped us off that Emily could have this condition. I'll tell that story later. As well as the ERG experience. Both tales are tearjerkers.
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