#FlashBackFriday

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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#EmesAlohaDreamTrip

It has happened. We knew it would. We thought we’d have more time. We don’t. Eme’s vision has deteriorated to her only being able to detect hand motions in her worst eye. 

  
Those big baby blues with the longest eyelashes EVER. They’re not working. There is no treatment. There is no surgery. This is the reality we knew was coming. But. We. Thought. We. Had. More. Time. 

So many kids & young adults hold on to their vision until adulthood. LCA leaves them something to work with – what this mom has learned to call “functional vision”.  That “functional vision” thing is huge. It makes a tremendous difference in the lives of blind kids. It’s the difference between being in the dark with a flashlight or being in the dark without a flashlight. Some flashlights are better than others, but a flashlight is a flashlight. 

 
Eme’s flashlight is going out. We can’t buy her more batteries. We can’t get her a new bulb. We can’t even get her another flashlight. 

From the day of her genetic diagnosis with Lebers Congenital Amaurosis (LCA-CRB1), we have worked to get a treatment developed for her very rare inherited condition. We knew a treatment was possible. Anything is possible with science.  A treatment just hadn’t been developed…yet. Who wants to finance the development of a treatment that would only impact about 300 people in the US? No drug company I know of would take on that burden. There’s no money in it. So what’s a parent to do?! We need batteries! Bulbs!! New flashlights!!!

We faced reality. Our little girl was going to go blind. So, we taught her how to be blind. It’s been a wild ride, but our #littleblindgirl is all good. In fact, she’s much better at dealing with the fact that she is blind than the rest of us. We’re the problem. We’re the ones that are mourning the loss. We are the ones that cause problems. She’s all good. Sure, she gets frustrated from time to time with certain things. But who doesn’t? 

So what do we do? Her fully sighted family. We wisk her away to a different part of the world to “show her the world” before it’s too late. Before all of her vision is gone. We need for her to see things that are very different from what she has seen in her house and yard in Virginia – or on her family trips around the southeastern United States. 

  
We invite you to join us as we chronicle #EmesAlohaDreamTrip

Yes. We took off to Hawai’i. 

For. The. Entire. Summer. 😎🌴🌊🐠🐚🐙🐡🌺

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Valentines4Veterans Printable Poster

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Please print this scannable and use it in your office or school as a flyer or poster. Whatever works best for you. QR code enables scanning with smart phones & will take folks directly to our #Valentines4Veterans page where they can donate any amount to send as many dozen cookies as they want to our wounded warriors!

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Eme’s Rainbow Jars

Eme’s Rainbow Jars are now available for shipment!

 $10/pint $20/quart

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YOU CAN SHIP AS MANY JARS AS YOU WANT 

TO ONE ADDRESS for $10 shipping

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Here’s the backstory 🙂 to Eme’s Rainbow Jars…

Eme can’t see a rainbow. She’s never seen one. We’ve tried over and over.



It’s depressing for everyone involved that we can’t share the simple wonder of a rainbow with her. Her sisters & brother always try to help her find it in the sky when they magically appear. Mom & dad try to get the absolute best viewing angle shooting to the side of the road or easing down driveways. They’ve chased the rainbow for 6 years now.

Last year, mom found this craft on Pinterest (of all places, right?) and she showed it to the kids. Immediately, they discussed how they should make it so Eme see each color up close by laying each color of Skittle on a contrasting color like a white or black piece of paper. She still has a little bit of her central vision – about 5% of what most people have. Mom thought Eme could better understand how a rainbow was layered colors if she could stack them one by one herself. The family is accustomed to thinking out of the box to share their sighted world with Eme, their blind little sister. Her sisters immediately said, “Eme can taste the rainbow.”



Then, with big eyes to go with their big hearts, her sisters asked if they could make the Rainbow Jars and sell them to raise money for Eme’s gene therapy treatment. Eme was born with a very rare genetic mutation that is causing her to go blind from a condition called LCA, Lebers Congenital Amaurosis. Eme is thought to be 1 of 300 in the US with her disease causing CRB1 mutation. Right now, a gene therapy treatment is her best hope. A treatment in development can save her sight and potentially restore her vision. But, her family is working against time. If too many of Eme’s retinal cells die from her CRB1 mutation, the treatment will not work.



 Her family organized EmesArmy.org and they actively raise money to fund LCA Research. Last year, the girls made Rainbow Jars and sold them for $10/pint & $10/quart. Their brother made all their flyers and order forms. This year, they are ready to go at it again!

Eme’s Rainbow Jars are now available for shipment!

YOU CAN SHIP AS MANY JARS AS YOU WANT 

TO ONE ADDRESS for $10 shipping

ORDER NOW TO HAVE THEM FOR EASTER BASKETS!

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email any Questions EmesArmy@gmail.com

THEY MAKE FANTASTIC GIFTS!!

$10/PINT $20/QUART

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