Megan

"My name is Megan and I was diagnosed with Achromatopsia when I was still an infant, as I have an older sister, Jennifer, who also has Achromatopsia. She and my parents had many years of struggling to find out “what was wrong” with her. So my parents knew what to look for when I was a baby, and quickly noticed the same symptoms of eye shaking and light sensitivity, leading to my young diagnosis. At the same time that this was an advantage to me as I was given dark sunglasses and other assistance from an extremely young age. This was also the early 1980s, and there was so much that was unknown that we spent years with little correction information. Thankfully, I had a mother and father, who made sure that I was able to attend public school, but had access to all the tools that I needed to adapt. They always encouraged my sister and I to do anything we wanted to do and to never let our eye disorder hold us back. So I played sports as I could, joined the marching band, and traveled hundreds of miles to college when the time came.

I experienced many of the same struggles as every person with Achromatopsia – teasing as a child and ignorance from others as an adult, self-consciousness, education and job difficulties, and most of all, a lack of independence stemming from not being able to get a driver's license, which has had a pervasive effect on my life. However, one of the biggest challenges that I have finally been able to fully realize and convey as an adult has been dealing with Achromatopsia being an “invisible disability”. It's almost as if my ability to adapt to the world around me, one of the things I'm most proud of, is the thing that creates some of the most difficulties. I am not fully blind, do not carry a cane, function as a “normally” sighted person, and therefore, people treat me as a normally sighted person, which can be problematic and extremely frustrating. I have had to learn how to deal with strange looks, ignorant questions, and outright rudeness because people simply don't believe there's something THAT “wrong” with me. I've had to “educate” not only friends and family, but educators, employers and professional colleagues on the importance and presence of people with varying disabilities. As I've gotten older, I've tried to embrace the lessons my parents taught me as a child, and not let this challenge breed negativity, but to turn it around and adapt – to be an example so that those who know me will be at least more aware and cognizant to any kind of disability, visible or not.

From the time I can remember, I've been told there will be a cure, a surgery, something some day that will “fix” Achromatopsia. As I've gotten older, I honestly let that idea go. For so many years, I was not involved in any of the support communities that are now available (and I am so grateful for). So when I heard there was research being planned that is now being conducted, I began to hope again that one day soon, these struggles will only be a memory. I am thrilled to be participating in the first phase of research now underway as it has been an incredible experience so far. I look forward to the coming months and hopefully a near future Achromatopsia-free (and hopefully a nice new shiny car to go with it!)."

-Megan, FL


Marissa

“The convention was such a life changing event for us! There is going to be a cure for my 3 kiddos and we now have glasses that help my 9 year-old for the first time in her life. We took her to the beach today with the glasses and she said she never realized how beautiful the beach was. Thank you so much!!!”

-Becky, LA

 

 

 


Sophia

“Sophia was 3 months old when her nystagmus began out of the blue. Having two older children we knew immediately that there was something very wrong. That began our 8 month journey of unending doctors’ appointments-MRIs, neurologists, ophthalmologists, genetic counselors, pediatric neuro-ophthalmologists. While we were relieved to know that Sophia’s condition seemed to be only a related to her vision, no one could give us an answer as to what was wrong with her or how to help her. Sophia began early intervention at five months old. This helped her to meet many of the developmental milestones that she was falling behind in meeting. But probably the most upsetting for us was every time she went outside she went right to sleep. She was not able to experience the beautiful world around her. Finally, we came across a story about another family with a child with Achromatopsia. We approached the doctors asking her to be tested. At 10 months old, ERGs and genetic testing confirmed her diagnosis. Even with a diagnosis, there was little direction. Only through the support of other families with loved ones with Achromatopsia did we find specialists who could get her the appropriate glasses and support. Now at 3 years old Sophia is a bright, happy little girl. She loves going to school and playing with her siblings. While we are so proud of all her accomplishments, we know that she will face challenges in her life. She just started to ask if she will drive like mommy when she gets older. We always say yes. We truly believe that through funding, a cure will be found and there will be no limit to what she will be able to accomplish.”

-Nancy, NY


Gisella

"When Gisella was two months we first noticed the rapid eye movement characteristic of Nystagmus. We noticed she frequently cried as an infant--particularly in bright light--as if in pain, and did not sleep well. As she became vocal, Gisella also had difficulty distinguishing colors. In order to read Gisella held material a few inches from her eyes--even with corrective lenses. We knew that something was wrong, but had difficulty getting a diagnosis or referral to knowledgeable medical support. We worried a lot. After frequent visits to the ophthalmologist, MRIs, neurological exams, other tests, and after successful efforts to have Gisella referred to specialized medical resources she was finally diagnosed with Achromotopsia at age six. While we felt some sense of relief that we finally had a diagnosis, we were also saddened to learn the extent of her vision limitations and saddened that we were not able to fully understand and help with her condition at an earlier age.

Despite having Achromotopsia, Gisella is a determined, bright, happy child who copes so well with this condition that we sometimes have difficulty educating others about the degree of difficulty she experiences when compared to others with normal vision or other more common vision difficulties. Educators--even vision specialists in education--do not have much, if any, experience with Achromotopsia and it takes special effort to understand how this condition affects vision. Gisella is adamant that she will do things herself and is often so self-sufficient that we have to take a step back and try not to limit her by our interventions. We frequently look at Gisella with awe as she tackles all the challenges that come with growing, learning, and being an active child while, at the same time, coping with Achromotopsia. Gisella has a big personality, is truly an inspiration to others, and does not let this condition limit or define her."

-Heather, FL


Kenny

“The first time we noticed anything wrong was when Kenny was 3 months old.  We first noticed his eyes were shaking back and forth, which of course totally freaked us out.  After MANY Doctor Appointments, ophthalmologist visits, neurologist appointments, an MRI, (not fun with a 4 month old), we finally found a doctor who said the words “cone dystrophy.” Now, this is just another way of saying “Achromatopsia” before you are 100% sure that is what it is.  Back then there was no genetic test for Achromatopsia.  But, every parent wants a diagnosis.  You want to know what is wrong with your child.  So, for several long years we didn’t have a diagnosis.  Kenny had just turned 3 when the Doctor finally agreed with our diagnosis of this thing called Achromatopsia.  GREAT, we finally have a diagnosis.  Now, what do we do with it??  How do I not freak out that my son is going to get picked on because he wears red sunglasses (all the time) and runs into things?

The more time we have had to live with this Achromatopsia diagnosis, we have come to realize that it doesn’t define who “Kenny” is.  Kenny is a great kid, who happens to have ‘A’.  He is super smart, loves to read, can beat anyone hands down when it comes to WWII trivia, and just doesn’t let ‘A’ get him down.  Kenny’s Achromatopsia is a small part of his much larger personality.  He often says to me “Mom, when you and Ms. Bridget raise enough money we are going to find a cure for Achromatopsia and fix my eyes, right?”  AND my answer is always “Definitely buddy, we are on our way!!!!” 

-Megan, CT  


Liam

“While we only received the official diagnosis 2 months ago, we had suspected something was awry with Liam’s eyes from very early on. When playing outdoors Liam constantly ran into or tripped over his toys, curbs, tables, etc. Further, he couldn’t perform many tasks which were normally easy for him such as tracking objects or pointing out familiar people. He tended to walk with his arms out in front of him, as a person would walk in a pitch black room. He requires a pair of dark red tinted glasses for outdoor use and a pair of light red tinted glasses when he is indoors. While the glasses have already made a tremendous difference in Liam’s actions, we understand we have a very long and challenging road ahead of us. Since Liam is still so young, we have no idea and are still somewhat naive to what his future holds.”

Today he struggles with and gets easily frustrated with activities requiring fine motor skills or hand eye coordination that his peers have already mastered.  At this age most children are learning their colors. Liam’s colors include white, dark and shiny (metal).  It breaks our hearts to see Liam panic whenever he is in a crowded room and he is unable to find us or hears an unfamiliar loud sound and screams in fear.  I am terrified of the day he is at the playground and a bully snatches his hat and sunglasses and Liam will be left completely helpless and unable to defend himself, because he will be totally blinded by the light. My heart aches to think about the endless tormenting and harassing he will endure from his fellow peers for having to wear funny red glasses inside or because he requires a monocular just to see the board. All the little things we take for granted in our day to day lives will be an uphill battle for Liam. He may never be able play sports most boys love such as baseball, football or basketball. He will never see the true beauty of a sunset or sunrise, and he will never be able to pick up his first date in his car, as Liam most likely will not be able to drive a car.”

-Lori and Adam, AL


Jack

"We knew from an early age that Jack was a little different from other kids.  He was only 6 months or so when we noticed that his left eye "jiggled" from side to side.  We also noticed that he wouldn't look directly at us in bright sunlight. When Jack got a little older, his symptoms became more and more apparent; In order to see something, such as a picture in a book, he had to bring his face inches from it.   Colors eluded him.  The most alarming symptom by far was his dayblindness.  Jack loves to go to the park, but he would walk around with his arms out like he was blind.  He would trip over curbs and steps, run right into playground equipment, and call out, "Mommy!  Where are you?" when I was mere feet away from him."

-Ann, MN





Cassidy

“We noticed that Cassidy's eyes weren't developing normally when she was about 2 1/2 months old.  At a time when her vision should have been coming in to focus, she developed nystagmus and was extremely light sensitive.  By the time she was 5 months old, she was diagnosed with a rod-cone dystrophy, which we suspected was Achromatopsia.  We confirmed this with genetic testing when she was 4.  Cassidy is vivacious and tries anything.  Art is her favorite past time and for someone with low vision, her attention to detail is amazing.  Sometimes because of her determination and adaptability, it's easy to forget how much harder she has to work to see.  As for any child, all a parent wants is for them to be happy and healthy.  Our dream for Cassidy is for her to be able to see color, for her to not have to wear dark glasses in almost any kind of light so we can see her beautiful eyes, for her to be able to see her friends across the playground or down the hall at school, for her to be able to drive (yes...she already asks about that at age 5!)”

- Kristi, CO


Emilie

“For me the hardest thing about having A is that it holds me back from ever truly going forward with my music. I love playing my flute more than anything but I can't reach my full ability because I can't see the music. I have to spend a long time memorizing it and therefore don't have any time to actually better the piece. I'd like to find a cure for all the kids like me that dream of Juilliard but know they will never reach the doors, the dreamers who dream impossible dreams held back by outside forces.”

-Emilie, That Random Flute Chick






Oscar

"Oscar was diagnosed with Achromatopsia when he was just 11 weeks old. As the months went on, we discovered via genetic testing the he had "the other Achromatopsia" which is known as BCM (Blue Cone Monochromatism), essentially this is a very close relative to Achromatopsia in it's symptoms and area of the eye that is effected. Initially our world crashed around us as we envisaged a dismal future for our 'blind' baby. However, Oscar is now 3 years old and is pretty much unstoppable at everything! Between him and his older brother there is never a dull moment. He is funny, clever and vivacious. He continues to amaze us at how he meets life head on in everything he does. Our biggest challenge with Oscar is the amount of times he falls over as he is usually running at a million miles an hour. But he usually just picks himself up, dusts himself off and resumes warp speed! I know he can achieve great things as he is, but I dream of a day when I can show him a rainbow, wave to him from across the playground, watch TV with him without his nose pressed to the screen and show him the horses in the field near our house."

-Trudi, United Kingdom


Milania

“Milania was diagnosed with Achromatopsia at 5 months old. Her pediatrician had noticed her eyes wiggling at a routine appointment and several specialists later her retinal dystrophy had a name. Although she has difficulty seeing us across the room and in bright light, one of our greatest obstacles has been playing outside with her two big brothers. When we took her outside she buried her head in the corner of her stroller or looked down at the ground. Thankfully the online support group that has been established on Yahoo gave us a place to go with questions.  Some amazing mothers and individuals with Achromatopsia suggested Noir lenses, and they have done nothing short of improved her quality of life. When we received the glasses and took her outside for the first time Milania picked up her head and looked around for the first time. To make the experience even sweeter she reached out and touched a flower on a tree we were standing next to.  These little moments for parents like me keep our faith going. We have chosen to believe the sky will be the limit for her, part of this belief is a cure. Gene therapy and research needs funding. The reality of no color in my child’s life and never driving a car brings all of us to this forum to encourage everyone to give.”

-Morgan and Erik, NY


John Kay

John sent Achroma Corp. this photo to be featured on our site. He is most notably known as lead singer and founder of Steppenwolf. Read about John's life story, how he was affected by his symptoms of Achromatopsia, as well as how he achieved his goals in spite of it all here: http://www.achromatopsia.info/john-kay-achromatopsia/









Gracie & Landon

“My name is Gyanna and I have two children with complete Achromatopsia. Gracie is 7 and Landon is 5. They were diagnosed at age 2 when an electroretinagram was performed at Cincinnati Children's hospital. Finding out the diagnosis was hard to take in at first and knowing they were color blind was the hardest. Knowing what I do now, being color blind is a struggle but it is not my biggest concern. They suffer from migraines due to their light sensitivity, they fall often when they try to play outside, and experience severe pain when being photographed. Just walking from the car to the door is extremely hard. I am lucky that they don't let A slow them down, they play T-ball, cheerlead, and try to stay involved/normal as possible. I admire how spirited they are. I do worry about when they get older and want to drive, pick out clothes, or live independently. As of now, they will never drive or be able to see color. My hope is that one day that will change but that will not be possible without proper research and research is not possible without funding. Thank you to all who donate!”

-Gyanna, KY

 

ACHROMA CORP