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.
Sunday, November 30, 2008
Achromatopsia Diagnosis
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My first post on my first ever blog is the email I sent to family and friends concerning my daughter (age 2), who has just received the news:
"I thought I'd send out an email about Emily's eyes to help everybody understand her condition better. I know it's a bit lengthy, but very interesting, I think!
As most of you know already, Emily has been diagnosed with Cone Dystrophy (aka Achromotopsia). This means that she has very few cones in her eyes, which normally help people with seeing in bright light. Her rods are working fine, so she can see in low light settings perfectly. Very bright lights result in complete blindness and possibly even a painful response in Emily's eyes.
Most complete achromats (those with zero cones in their eyes) see only black, white and countless shades of grey. The specialist said that Emily does have a few cones and she may be able to distinguish some color. She said that a bright red may show up as a faded mauve color, for instance. But the doctor's professional opinion was that most of her colors are greys. We can't be sure of the extent of Emilys color vision until she is old enough to explain and understand what she is seeing.
From what I've read, achromats sense no loss of color vision since they never saw any to begin with. Interestingly enough, most find that they enjoy their increased ability to see textures, depths and luminosities. They don't relate to things in but color they relate to how much light a thing gives off. I read that an achromat knitted a sweater with a beautiful design but we couldn't see it because the colors she used were so similar, but to her the different yarns gave off completely different amounts of light!
1 in 10,000 are carriers of a recessive gene and it takes 2 of these individuals to find each other and produce a child with Achromotopsia. The last known study shows that 1 in 33,000 (or 0.003%) Americans has Achromotopsia. The chances of our future children having the condition is 25%.
To date, there are not any cures for this condition, not that she would want one if there was! I've been reading a lot of first hand experiences from people who have the condition or people who live with those who do. Some neat things I learned:
As most of you know already, Emily has been diagnosed with Cone Dystrophy (aka Achromotopsia). This means that she has very few cones in her eyes, which normally help people with seeing in bright light. Her rods are working fine, so she can see in low light settings perfectly. Very bright lights result in complete blindness and possibly even a painful response in Emily's eyes.
Most complete achromats (those with zero cones in their eyes) see only black, white and countless shades of grey. The specialist said that Emily does have a few cones and she may be able to distinguish some color. She said that a bright red may show up as a faded mauve color, for instance. But the doctor's professional opinion was that most of her colors are greys. We can't be sure of the extent of Emilys color vision until she is old enough to explain and understand what she is seeing.
From what I've read, achromats sense no loss of color vision since they never saw any to begin with. Interestingly enough, most find that they enjoy their increased ability to see textures, depths and luminosities. They don't relate to things in but color they relate to how much light a thing gives off. I read that an achromat knitted a sweater with a beautiful design but we couldn't see it because the colors she used were so similar, but to her the different yarns gave off completely different amounts of light!
1 in 10,000 are carriers of a recessive gene and it takes 2 of these individuals to find each other and produce a child with Achromotopsia. The last known study shows that 1 in 33,000 (or 0.003%) Americans has Achromotopsia. The chances of our future children having the condition is 25%.
To date, there are not any cures for this condition, not that she would want one if there was! I've been reading a lot of first hand experiences from people who have the condition or people who live with those who do. Some neat things I learned:
- Universally, they can see better at night than color-vision people. Within the first ten minutes from going from brightness to darkness their abilities to see are far greater than you or I. I've read accounts of achromats being employed by the military for this ability. I have noticed this with Emily when entering a dark room at night too. She saw me when Rich didn't!
- Some achromats can see with their eyes closed! I thought this as especially cool. A mother told of how her 6 year old would watch tv with his eyes closed because it was more comfortable for him. A woman explained how in very bright light she could close her eyes and get an quick snapshot of what was in front of her.
And, I haven't even finished my research yet! All in all, Emily should be able to exist as normally as the rest of us with a few adjustments, such as dark glasses for certain situations. There is a new technology which developed a contact lens with a light filter which many achromats found extremely helpful in aiding their day-to-day lives. There is also an online network called the Achromotopsia Network http://www.achromat.org/ where I've found some great articles to help me understand it. Also there are some books, Island of the Colorblind and Night Vision which give accounts of the lives of achromats. I read the first and it was interesting to get an insider's view of what Emily can't explain to me herself yet."
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