Achroma intraocular lens1/29/2024 Even with a diagnosis, there was little direction. At 10 months old, ERGs and genetic testing confirmed her diagnosis. We approached the doctors asking her to be tested. Finally, we came across a story about another family with a child with Achromatopsia. She was not able to experience the beautiful world around her. But probably the most upsetting for us was every time she went outside she went right to sleep. This helped her to meet many of the developmental milestones that she was falling behind in meeting. Sophia began early intervention at five months old. 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. That began our 8 month journey of unending doctors’ appointments-MRIs, neurologists, ophthalmologists, genetic counselors, pediatric neuro-ophthalmologists. Having two older children we knew immediately that there was something very wrong. “Sophia was 3 months old when her nystagmus began out of the blue. 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!)." I am thrilled to be participating in the first phase of research now underway as it has been an incredible experience so far. 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. For so many years, I was not involved in any of the support communities that are now available (and I am so grateful for). As I've gotten older, I honestly let that idea go. 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.įrom the time I can remember, I've been told there will be a cure, a surgery, something some day that will “fix” Achromatopsia. 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. 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 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. 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. 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”. 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. So I played sports as I could, joined the marching band, and traveled hundreds of miles to college when the time came. They always encouraged my sister and I to do anything we wanted to do and to never let our eye disorder hold us back. 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. This was also the early 1980s, and there was so much that was unknown that we spent years with little correction information. 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. 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. She and my parents had many years of struggling to find out “what was wrong” with her. "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.
0 Comments
Leave a Reply.AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |