I 💛 LOVE the Timehop app. 

I 💙 LOVE faceBook. 

Mom and 3 yr old newly diagnosed Eme in Colorado

Together, they remind me just how far we have come through the darkness that comes with LCA, Lebers Congenital Amaurosis. 

Mom and Eme on Mt. Evans in Colorado. She couldn’t see the mountains.

My youngest daughter, Emerie, was diagnosed with LCA when she was 3. Up until that point, we were under the impression that she just had really poor vision. This impression was guided by the opinions of multiple vision professionals & several medical specialists. 

Adrie, Emerie, and Elie in Colorado. Eme is looking at me over her glasses, which indicates that she can see me.

LCA is a very rare degenerative retinal disorder that essentially kills off the cells in the retina. Those that have never had reason to get all crazy into vision science affectionately refer to those cells as the rods and cones. 

Eme holding dandelions she had picked while picnicing during brother’s baseball game. She could see them and would wander around picking them.

The retinal cells, which consist of way more than just rods and cones, use light to capture images seen through the eye. I like to explain it as the eye being the camera & the retina being the film. 

LCA is a genetic disorder that damages the film. There is usually nothing wrong with the optic nerve that moves the images to the brain. Nor is there anything wrong with the brain. It’s a retina problem. The film is bad. 

At last count, there are 19 various forms of LCA that are currently documented. At this point in time, each form is attributed to a specific genetic mutation that is identified through genetic testing. If LCA is suspected clinically, then a genetic test can often confirm the diagnosis. 

A clinical diagnosis is based on the symptoms exhibited and the judgement of your eyecare professionals. A genetic diagnosis is based on the analysis of blood drawn from the child, and both biological parents. You will get 3 gene reports. Siblings may or may not be affected, and may not be tested if they have no symptoms of vision loss or nystagmus, which is vibrating or rolling eyes. 

In most forms of LCA, the parents are carriers of LCA, which means they have 1 mutated gene that is known to cause LCA. In order for the child to have LCA, the child has to have 2 mutated genes known to cause LCA. In Eme’s case, she got 1 mutated gene from me and 1 mutated gene from her daddy. This is a recessive inheritance. 

Anywho…parents usually have no idea that they are carrying a mutated disease causing gene. That was the case for me and Eme’s daddy. Furthermore, extended family may have no signs of LCA or blindness on either side of their family. This was also the case for me and Eme’s daddy. 

Eme is 9 now. It’s been 6 very long years since her diagnosis. Timehop and faceBook remind me so vividly of how far we have come. Her vision has faded. She can see less and less every year. And every year I see more and more of what I never ever dreamed possible. 

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