Category: CORD-5

CORD-5

Valuable Information for Those Experiencing Vision Loss

A few months ago, I discovered Hadley, a non-profit organization established to help individuals with vision loss. I recently received an email with the following podcast and have found it very informative and helpful in understanding how to address the emotional side of my vision loss.

Emotions, Mental Health, and Vision Loss

Episode 118

An episode of the Hadley Presents: A Conversation with the Expertsaudio podcast

Dr. Ann Wagner, the guest speaker in this episode, addresses so many feelings I’ve had over the last year with my vision loss. Feelings of isolation, dependency, loneliness, hopelessness, helplessness, loss of self-identity, loss of self-worth, fear and anxiety. Dr. Wagner provides some helpful advice on how to work through some of these feelings. She also speaks about her own experience with vision loss.

I hope this is helpful for others who may be experiencing vision loss and the life changes that occur as a result. It may also be beneficial to share with family and friends so they can better understand and learn how they can help as well.

Take care!

Rebecca ~~<3~~

P.S. I also found this great article by Dr. Wagner on the website for Foundation Fighting Blindness.

I Am Blind, but I Am Not the Blindness

Cure for CORD-5 Coming Soon???

Foundation Fighting Blindness

Summary of the Ninth Annual Retinal Cell & Gene Therapy Innovation Summit 2024

This article from Foundation Fighting Blindness, dated September 4, 2024, has some very interesting updates on retinal cell and gene therapy for a number of retinal vision issues. For the full summary of the Ninth Annual Retinal Cell & Gene Therapy Innovation Summit 2024, visit this link.

https://www.fightingblindness.org/news/innovation-summit-2024-summary-970

In particular, Session 3: Clinical Gene Therapy; PRODYGY: A First-in-Human Trial… Dr. Daniel Chung, Sparing Vision, is very interesting as it may address treatment or therapy for CORD-5. Very encouraging!!!

Without giving away all the details of my visit to Wills Eye Institute in Philadelphia, PA, in August 2024, I will say that some of what I learned in Philadelphia correlates with the information in this article.

More to come in a later post about the visit to Philadelphia.

Take care!

Rebecca

What is CORD-5?

DISCLAIMER:  This article is in no way intended to provide medical advice or treatment.  I am not a physician, nor a medical professional of any sort.  This information is provided solely based on my knowledge, research and understanding as a layperson and former assistant in an eye clinic approximately 30 years ago.  The links to various creditable websites provide valid information but should be discussed with your personal medical professional to determine if it is relevant to your specific circumstances.  The information provided is also based on my understanding of things as they have been explained to me by my past and present physicians.  If you are experiencing any changes in your vision or are in need of medical attention, go to your nearest medical facility or call 911.
Introduction

I’ll try not to get too technical but I also want to share enough information to help you understand more about my vision disorder. So, bear with me and hopefully I can give you enough information to”see the big picture” with CORD-5. (Yes, all puns intended! lol!) I’ll begin this posting with a brief explanation of what “CORD-5” stands for, a short description of the anatomy of the eye, how CORD-5 impacts vision and a little information about the genetic research that has identified the specific gene causing this problem. I’ll wrap up with what this may mean in terms of treatment, therapy and prognosis.

What Does “CORD-5” Stand For?

Briefly, CORD-5 stands for COne Rod Dystrophy – type 5; over time, it has been shortened to CORD-5. It is a rare genetic disorder that causes vision loss and blindness. It affects the cones and rods, which are all located in the macula and retina in the back of the eye.

Brief Anatomy of the Eye

When we look at something (tv, book, trees, birds, people, clock, etc.), the image is received through the cornea, the pupil and lens, and is projected onto the retina. The retina then sends signals through the optic nerve to the brain and the brain interprets those signals as the image we are looking at. While this is a simple summation of how we see, the following two sections will give a little more detail on the parts of the eye and their basic functions.

If you would like more detailed information on the eye and how it works, the American Academy of Ophthalmology provides more details and some good visual illustrations on this page.
Anterior Section

The anterior (front) section of the eye consists of the cornea, iris, pupil, lens and the angles. (Not angels… The little angels are who you see when the grands come to visit. lol!).

The cornea is the clear front part of the eye. It protects the eye from foreign objects, dust, etc., and it also affects the focus of the images we see. The shape of the cornea is one factor in how well we see. If a cornea is misshapen, it can cause astigmatism. The iris (the colored part of the eye) dilates or contracts to adjust how much light passes through the pupil (the black center of the iris) to the back of the eye. In low light settings, the iris dilates to let more light in; in brightly lit settings, it contracts to reduce the amount of light coming into the eye. (During an eye exam, a physician may dilate your eyes with drops to keep the iris open. This helps them assess the health of the back of your eyes.) The two sections of the eye are seemingly separated by the lens, but the lens is still considered part of the anterior section. The lens also helps with the focus of the image we see. The angles control the pressure of the eye. If the pressure is too low or too high, it can damage the optic nerve and cause vision loss. This is known as glaucoma.

Keep in mind that, due to various factors, not all eyes are “created equal.” Between the cornea, the lens, the natural shape of the eye and other factors, some of these may not work or be formed properly which causes us to need glasses, contacts or other type of eyewear to see well. Sometimes, a person may even require surgery to correct the vision or eye problem (cataract, Lasik, glaucoma, etc.).

Posterior Section

The posterior (back) section of the eye includes the vitreous, the retina, the macula and the optic nerve, among other parts which are not relevant to this topic. Again, this is a very brief description of the eye anatomy.

Interesting fact:  The optic nerve creates a blind spot in our vision.  Yep!  Sure does.  This is because the optic nerve has no photoreceptors.  But, because of the amazing ability of our brain to adapt, we just don't notice it.  Also, it is not the central part of the back of the eye; it is slightly off-center.  So, if you were to have a visual field test performed, everyone of us would have a small circular area, slightly off center towards the temples where we see nothing at all.

The posterior section is filled with a “jelly like” substance called vitreous. While it is normally clear, sometimes (due to age, trauma or other issues) it can develop “floaters,” “shadows” or “gnats” created by a change in the consistency of the vitreous. Generally, floaters are nothing more than a nuisance; although, there are times when floaters are caused by blood in the eye from a retinal tear or other disease. Any disturbance or change in your vision, flashing lights, vision loss, bleeding in the eye, retinal tear or detachment (like a veil covering part of your vision) requires immediate medical attention. Contact your medical or vision provider immediately.

The retina is the lining of the back of the eye. It is a vascular tissue which facilitates blood circulation to the eye, contains cones and rods, is home to the macula and is the connective tissue to the optic nerve. Keep in mind that there are a number of diseases and disorders that can affect your vision. If you notice any vision changes, contact your vision professional immediately. It could be a sign of a significant problem which, if left untreated, can cause permanent vision loss.

While I’m not exactly sure, I’m guessing the retina probably contains millions of cones and rods. The cones detect color, while the rods detect the amount of light. The cones and rods send signals (neural impulses) through retina to the optic nerve which travel to the brain. The brain then interprets the signals as the image we see. If someone is color blind, the cones either do not send appropriate signals to the brain or they are unable to perceive the colors correctly. When someone is light sensitive or has trouble seeing at night, the rods are not working properly or are not sending appropriate signals to the brain. In both cases, the brain is not able to interpret the signals correctly, thereby creating an inaccurate or flawed perception of what they are looking at.

Roughly in the center of the retina lies the macula. The macula also contains cones and rods, but is responsible for our fine, central vision (our straight-ahead vision) as well. For example, if you look straight ahead at a clock on the wall, you will see the clock on the wall. Peripheral vision is our “side vision.” This is what is seen outside our central “straight-ahead” vision. An example might be if you’re at the park and a ball comes soaring in your direction, you will hopefully see it in your peripheral (side) vision before it comes into your central vision and bonks you in the face… especially if no one yells, “heads up!”, “look out!” or “duck!” lol! Most people are familiar with the eye disease macular degeneration and, most of the time, this is an age-related issue. As we get older, our bodies tend to naturally deteriorate; this includes the eye. And, as the name states, the macula degenerates (deteriorates) and the central vision is affected or lost. While there is new medical research and treatment for some types of macular degeneration, it may not treat all forms of it. This is something a qualified vision provider can determine for you.

Interesting fact:  A (human's) normal visual field ranges from about 150-170 degrees horizontally and approximately 90 or so degrees vertically.  About 30 degrees in the center comprises the central visual field.  Check out NIH, Nat'l Library of Medicine for more information about Visual Fields.   On this NIH webpage, if you look at Figure 116.1 and compare it to Figure 116.4 (A), you will see the difference between a normal visual field and one with central vision loss...  this includes CORD-5 and  macular degeneration vision loss, among other possible diagnoses.  You can find a simpler description of a visual field test here (Cleveland Clinic).  Also, a great screening tool for macular degeneration or other visual field loss is the Amsler Grid.  You can find information about the Amsler Grid here (Cleveland Clinic).

Finally, there is the optic nerve. As mentioned earlier, the optic nerve connects the eye to the brain via the central nervous system. While the optic nerve has no photoreceptors and can not send signals of images, it is an integral part of our vision. It can become damaged or diseased, which ultimately will affect our vision. While it was previously thought to be irreparable, new technology and science is finding that there may in fact be treatment for damaged optic nerves. Check out this article from Johns Hopkins about optic nerve repair.

Effects of CORD-5

As you may have gleaned from my previous post, “My CORD-5 Journey,” CORD-5 is a genetic disorder affecting the cones and rods in the retina and macula. To recap that post, CORD-5 did not start becoming evident for me until my mid-twenties and it was mild at that time. For several more years I did not have any other significant issues except increasing light sensitivity and slightly decreased visual acuity. In my late thirties to mid-forties, I began to have more significant issues with my visual acuity, color blindness and some mild, but noticeable, central vision loss. Now, in my fifties, I am legally blind with “significant central vision loss,” “significantly impaired visual acuity,” and impaired color vision.

For some people with CORD-5, their vision is only mildly impacted. For others, they are affected much more significantly. Some are affected at a younger age (my dad was legally blind at 27 years old) while others are not affected until later in life. So, the predictability factor of the effects and timeframe for CORD-5 is very random. Some of this may be due to the nature of CORD-5 and, at this point, likely becomes more technical and delves deeper into the science of genetics, but I am not an expert, amateur or even a beginner geneticist so I will not attempt to dissect that in any way, shape or form. lol!

But, these things are true of CORD-5:

  • it affects the cones and rods;
  • it affects the macula and central vision;
  • it affects visual acuity;
  • it is unpredictable in the degree and timeframe of manifestation.
Genetic Research and GUCY2D… huh?

In the mid 1990’s, my family came into contact with Dr. Kent Small. (Dr. Small is still in practice at the Dr. Kent W. Small Macula & Retina Institute.) Dr. Small is an ophthalmologist who was involved in genetic research with our family and another family with CORD-5.

I believe my first encounter with Dr. Small was fairly basic with him taking a blood sample and performing a basic, rudimentary vision evaluation. After that visit, Dr. Small had some of the family members (including myself) travel to Charleston, SC, to have more extensive testing performed. I do not recall the name of this facility where we had the testing and I’m not sure how many of my family members went, but there were several of us. One of the tests performed was an ERG (electroretinogram). I remember this test specifically because, although not “painful,” it was uncomfortable due to the “wired contacts” placed over the eye, the electrodes attached on my head and the bright, flashing lights. This test was used to evaluate the retinal signals and activity. Another test that was performed was a color vision screening test. For this test, they presented us with several trays containing plastic “caps” with different colors on the caps. We were to put the caps in order by color. Funny story about the color vision test… One of my family members completed that test first and, after I completed mine, I asked her if she knew how she did on that test. She said she did pretty good because she figured out that there were numbers on the bottom of the caps to put them in order. Whoa… Wha???!!! OMG!!! SMH!!! I had no idea about that and, yes, I did VERY poorly on that test. lol!

The next encounter with Dr. Small was maybe a couple years later with a trip to UCLA Jules Stein Eye Institute for more testing. I believe the testing lasted 1 1/2 days and, for the remainder of the trip, we were able to rest and do a little sightseeing. We took a short trip to see some celebrity homes and then went to the Coast. (Yes, I actually waded in the Pacific Ocean! Woohoo!! I don’t remember much about the celebrity homes though because I was in the back seat of the van trying not to get car sick! lol!) Some of the testing was the same as what we did in Charleston, SC, possibly to confirm the previous results and to determine if there had been any progression of the CORD-5.

From the testing Dr. Small did on our family and another family, he and his colleagues were able to identify the gene that presents the CORD-5 anomaly. The gene is identified as GUCY2D. (Apparently some pronounce it “gucky 2D” while others pronounce it “Gucci 2D.”) To the best of my memory, as Dr. Small explained it to me, this is an autosomal dominant gene. And, if I understood correctly, a dominant gene can/will manifest even if there is only the one gene present, from either parent; alternately, a recessive gene will not manifest unless two genes are present, one gene from each parent. Additionally, it is my understanding that if this gene “skips” a generation or individual, then it will no longer be present in that bloodline for future generations. An example of this is my great aunt. Her two brothers both had the gene but she did not. None of her children have the gene or the vision problem. Yet, her brothers and their children and some of the grandchildren have the gene and the vision problem.

Here are links to the two reports Dr. Small and his colleagues collaborated on and presented regarding the CORD-5 research. 1) Identification of GUCY2D ; 2) Clinical Study of a Large Family These reports present the lineage of the two families studied and the presence or absence of the gene in participants, as well as the manifestation of CORD-5 in the participants.

Here are some links to a couple of other sources with information on various cone-rod dystrophies, CORD-5 and CORD-6… 1) University of Arizona; 2) OMIM-CORD5; 3) OMIM-CORD6

One interesting fact that I have learned from Dr. Small’s reports, and from the information on the other sites, is that CORD-5 and CORD-6 are actually the same genetic disorder. This was noted in the first of Dr. Small’s reports linked above. One of the websites does report that CORD-5 is on chromosome 17q13 while the other one for CORD-6 reports it on chromosome 17p13. I am not sure if this is a “typographical” error or if it is an actual genetic/chromosomal difference but, essentially, all of the resources report CORD-5 and CORD-6 as the same disorder.

What now?

As mentioned previously, I am now legally blind. It does take me longer to do most things, whereas someone with good vision can do them much more quickly. As difficult as it can be to accept, I know that this vision issue has the potential to continue to worsen as I get older. I do not anticipate becoming totally blind, but I am trying to prepare (as much as I possibly can) for a “worst case scenario” in the event it does get to that point. (I was briefly a Boy Scout mom and am the daughter of a U.S. Marine… be prepared.)

Accommodations are the name of the game now. I use visual aids and assistive technology, including magnifiers, computer glasses, a CCTV (closed circuit tv), filters (sunglasses) and tinted glasses lenses. With the progression of technology, I am able to adjust the settings on my computer to an “inverted” high contrast setting where there is a black background with white font, as well as an enlarged display setting. I have not yet become comfortable with “reading” software, but may further explore that option in the future. I prefer digital material to printed material, mostly because I can enlarge the font/text size and invert the colors on my tablet and laptop. I have recently acquired a white cane and am learning to use it when I go places I’m not familiar. (It is also a great visual cue to others that I am blind/visually impaired and may need assistance.). I am learning to utilize public transportation services and will hopefully become more adept at that soon. I rely on my husband, family and friends to guide me in unfamiliar locations… And, along with that, I am learning to laugh at myself more when I miss a step or stumble over a sidewalk/curb I don’t see. Fingers crossed I don’t break a leg or my neck when this happens. lol! Sometimes it’s also laughing at myself for dressing funny… or getting one thing when I think I’m getting something else… or thinking a piece of lint on the floor is a bug and I squeal… lol! An embarrassed ego heals pretty quickly with some good-hearted laughter. lol!

Next, I have an appointment in August (2024) to visit Wills Eye Hospital in Philadelphia, PA, for an evaluation and genetic counseling. It is my understanding that this appointment will help determine if I am a candidate for additional genetic research or even possibly genetic therapy/treatment/trials, if there is anything currently available. For me, this trip would be more for curiosity’s sake but there is also a little glimmer of hope that maybe there is research which will provide a “cure” or treatment in the near future. While I can accept that my vision may not be “curable,” honestly, I just pray that there may be genetic therapy that can prevent my children (and other children in my family) from developing the significant vision problems from CORD-5. (Or, better yet, eliminate this genetic disorder from the family completely!) I will try to post an update below after my visit.

While the transition from working and being independent to being “disabled” and dependent has been VERY difficult, it is an adjustment I must make. This condition can not win. Instead of considering myself “disabled,” I am learning to consider myself “differently-abled.” I CAN still do most things I like to do; I just have to do them differently. I absolutely CAN NOT use it as an excuse to stop living my life. I can not let it define or defeat me. I must let it drive me to become more creative in how I do things, to look for new opportunities, to learn to ask for and accept help, to explore and embrace new systems and supports, to advocate for myself and others and to become more resilient in the tides of adversity. I have determined that “growing pains” are to be expected in life and if you stop having “growing pains,” you have stopped living. This doesn’t mean that it will be easy, it just means I will keep getting up when I fall down… every time! Regardless of how long it takes, I WILL get back up. (Yes, this is positive self-talk for myself just as much as it is to encourage others.)

No obstacle is an excuse to stop; it is a reason to grow, to become more resourceful, to challenge yourself and the status quo, to become more flexible, and to become stronger today than you were yesterday.

Thank you for stopping by… Take care and be well!

Rebecca ~~<3~~

Post Resources
  1. American Academy of Ophthalmology
  2. National Institute Health, Nat’l Library of Medicine
  3. Cleveland Clinic – Visual Field
  4. Cleveland Clinic – Amsler Grid
  5. Johns Hopkins Medicine
  6. Dr. Kent W. Small Macula & Retina Institute
  7. MedicineNet – Electroretinography
  8. UCLA Jules Stein Eye Institute
  9. Identification of GUCY2D
  10. Clinical Study of a Large Family
  11. University of Arizona Health Sciences – Hereditary Ocular Disease
  12. OMIM (Online Mendelian Inheritance in Men) – CORD-5
  13. OMIM (Online Mendelian Inheritance in Men) – CORD-6
  14. Wills Eye Hospital; Ocular Genetics Center
  15. NIH, National Center for Advancing Translational Sciences, Genetic and Rare Disease Information Center, Cone Rod Dystrophy
  16. Orphan.net, Cone Rod Dystrophy
  17. NIH, National Center for Advancing Translational Sciences, RARe-SOURCE (Browse -> Rare Disease Information -> Search GUCY2D -> specific gene ABCA4)
Services & Resources in TN
  1. TN Dept of Human Services, Vocational Rehabilitation
  2. TN Dept of Human Services, Blind & Visually Impaired Services
  3. TN Library for the Blind and Physically Handicapped
  4. TN School for the Blind
  5. TN Disability Determination Services
  6. TN Dept of Human Services, TN Business Enterprises (TBE)
  7. TN Disability Coalition
  8. TN Disability Pathfinder
  9. Disability Rights TN
Other Useful Links/Sites
  1. National Federation of the Blind
  2. American Council of the Blind
  3. American Federation of the Blind
  4. Social Security Administration; Publication: If You’re Blind or Have Low Vision-How We Can Help
  5. DOJ, Civil Rights Division, Disability Rights Section
  6. DOJ, US Attorneys Office, Eastern District of Tennessee, Civil Rights Enforcement
  7. ADA.gov
  8. Foundation Fighting Blindness

My CORD-5 Journey

As you read, please keep in mind that this information is only about how CORD-5 has affected my vision and life personally.  Each individual with CORD-5 may have different experiences.  It is still unknown why, how or to what extent CORD-5 will progress in each person, but the gene has been identified and research is continuing to try to find a treatment or therapy to eliminate the condition.  More to come on the research and therapies in a later post.
The early years

As I have been told, I began wearing glasses at age 14-months old. According to my parents, they noticed I was not seeing or recognizing things (toys, objects, people across the room, etc.) very well and that I was walking into things. So, they took me to the local eye doctor and it was determined that my vision problem was because of astigmatism. Thus, at 14-months old, I was prescribed and fitted for my first pair of glasses. (My parents still have my first pair of glasses and they are tiny and cute, if I do say so myself. Hoping to snap a pic of them to post soon. lol!) You’re probably wondering how my parents kept the glasses on me at 14 m/o. I asked them the same question. Their response was that once I realized I could see things more clearly, I didn’t fuss about them and wore them fairly well.

I did not understand as a child that I may or may not have the CORD-5 vision issue, what it was or what it would mean for me. I just knew that I had pretty much always worn glasses. I didn’t know anything different than life with glasses. Both of my parents wore glasses, so it just seemed like a part of life in general. I knew my dad was “legally blind,” (not totally blind) but only because I had heard my parents and family talk about it. Again, as a child, I didn’t understand exactly what that meant either except that there were things dad couldn’t see very well, and that mom went to work while dad stayed home with me and my sister. Dad still did things around the house and occasionally would help family, neighbors and friends with odd jobs but, when I and my sister were young, dad was home most of the time. (Maybe my dad was the original “Mr. Mom.” Sorry, Michael Keaton, my dad beat you to the punch. lol!)

As I was growing up, I did recognize that I was a little light sensitive. Being outdoors in the sun seemed to make it harder for me to see with my regular glasses. I tried clip-on sunglasses of various sorts but, on smaller glasses for children, they didn’t fit well at all. I recall that I found it much more comfortable to have glasses which would automatically darken when I was in the sunlight, once they were available in my area, that is… probably in my early “tweens.” I believe I was in middle school at the time, 6th or 7th grade. At that time, the auto-darkening glasses did not perform as well as the ones available today and they were heavy. I believe they were mostly made of glass rather than lighter weight plastic and, with the amount of astigmatism, my glasses were already a little heavy anyway. I wore them just the same since it was the best option available at the time. Here’s a site that gives information about the invention of “photochromic” lenses. Fortunately, I did not notice any other significant vision issues related to CORD-5 until I was much older.

Teenage and young adult years

Through my youth and teenage years, I would visit the eye doctor each year to check my vision and see if I needed new glasses. Sometimes I needed new glasses because my prescription would change; other times I would need new glasses because I may have been a little rough with them at times. (Oops! lol!) Or, sometimes I would get new glasses because the fashion or style had changed. Glasses were almost as much a part of my life as breathing. As long as I could remember, I had always worn glasses. I couldn’t see more than a few feet in front of my face without them. They were the first thing I put on in the morning and the last thing I took off at night. Ultimately, that would be the story for the rest of my life.

Sometimes it was hard growing up wearing glasses. I did experience the full extent of teasing and being made fun of by some of the other students. I was also teased because of having red hair. At that time (mid-1970s to 1980s), red hair wasn’t as “cool” or “desirable” as it is today. There were even a few times when I was teased and made fun of (in class) by a couple of my teachers. (Yes, I still know who they are/were. I have forgiven them and hope they have learned better of it as they have grown older.) Sometimes it seemed like a double-whammy… glasses and red hair. But these were just some of the growing pains I went through growing up. I suppose it isn’t really that much different than what other people go through growing up when they have differences from society’s view of “normal.” (More could be said on this, but not is this post. Likely a later post will talk more about this.)

I did struggle with athletics and sports. With the high astigmatism and wearing glasses, playing sports was something I was not very good at. Some of this was because of the concern of getting hit by a ball (or a misguided hand, or foot, or whatever other objects… lol!) and breaking my glasses. Also, when I played and started to sweat, the glasses kept wanting to fall off my face. They actually did a few times and, fortunately, they did not get broken or damaged. And, on top of all that, outdoor sports, as you can probably guess by now, were even harder because of the bright sun and glare. One of the other issues that I had, but didn’t understand at the time, was the difficulty with depth perception. Being able to determine just how far away the ball (or frisbee or other objects) was from me, definitely created another level of concern. (I don’t believe depth perception is a factor of CORD-5, but I have struggled with this to some degree for most of my life. It is most likely caused by the high astigmatism.) So, sometimes I wonder if I would have been more excited about sports or athletics if I had not had to wear glasses. Sometimes I think ‘yes’; but I also think ‘no’ sometimes because I was also starting to notice boys. lol!

Now, some folks may be saying that there are a lot of kids who wear glasses and play sports, and they would be right. But, please understand that each child is different and each vision issue is different. This is just what I experienced. And, at that time, with the circumstances, the resources available to my parents, as well as the resources available (or not available) in my region, this was the best that was available for me. Alternately, keep in mind that my mom worked and was the only driver for my family. Occasionally, my grandparents would drive us places but, most of the time, if we went anywhere while mom was working, we rode bikes or walked. So, yes, some of this does, in fact, have a multi-generational impact physically, emotionally and socially. We didn’t live “the life of Riley,” but we also didn’t live a life of poverty, destitution or desperation either. Aside from all of this, and most importantly, my parents provided a good home for us and we knew we were loved and cared for by our parents, grandparents and other family members and friends.

Twenties

It wasn’t until my mid-20’s that I began to notice some issues with my color vision. It is somewhat comical how I learned of this problem. My supervisor at the time handed me a report and asked me to work on the items that were highlighted. For the moment, I laid the report aside. The next morning, I picked up the report and looked over it but didn’t see any items highlighted. I kind of chuckled to myself and thought she was joking with me by giving me a report with nothing to research and correct. I took the report back and told her that I really liked reports like that and would love to have more of them. She looked at me quite perplexed and asked if I had completed the report already. I replied that I didn’t see any items highlighted and thought she was just joking with me. For an instant, I think she thought I was joking with her. But, very quickly, we both sort of came to the same conclusion… I couldn’t see the yellow highlighter she used on the report. After talking a few more minutes about this and how we could work around it, she took the several page report, made marks beside the items that needed to be completed and gave it back to me. Ugh! There were about 20-25 items per page. Yes, my heart sank when I realized I only had three days to complete the multi-page report with numerous items on each page. At that time, I just chalked it up to possibly being something that other people maybe had difficulty seeing as well and went on back to my desk and worked on the report. And, yes, when I turned in the completed report, I told my supervisor that I changed my mind and I did NOT like reports like that and did NOT want any more of them. We both laughed about it and went on with our work. Looking back, I see how that was a small, but monumental, introduction to CORD-5 for me.

Thirties

Through most of my thirties, I noticed I was becoming more light sensitive, especially when driving in the daytime. I just thought it was “normal” and would peruse the sunglasses display at the local pharmacy or discount stores. I also knew that my vision wasn’t as good as it had been when I was younger, but I was still good to drive, work and carry on with my life. During these years, I tried contact lenses but didn’t have much success with them because of the high level of astigmatism. Most contacts at that time didn’t work very well with high astigmatism unless they were hard or “gas permeable” contacts. Anyone from that time can tell you that those contacts were not very comfortable to wear, so I struggled with them for a short time but finally decided I’d just stay with my glasses. (Toric contact lenses {soft contact lenses for astigmatism} became available a little later on, but I had already lost interest in wearing contacts by that time.)

For most of my thirties (and for most of my life), I worked with computers daily. Fortunately, at this time, I began working with TN Vocational Rehabilitation, so I had access to resources and amazing people who would help me on the job. While with Vocational Rehabilitation, I would jokingly tell them, “I work for the agency now, but I’ll be back as a client in the future.” It was a way to “laugh off” the inevitable fate of CORD-5, but it was also a way of accepting it as well. It was something I knew I had. I just didn’t know how bad it would get. I also knew that I couldn’t change any of it. So, I chose to laugh about it most of the time.

Some of the people I worked with in Vocational Rehabilitation helped me learn to adjust my computer display settings. I found I definitely preferred high contrast (white text, black background) and a larger display setting. This helped tremendously! During this timeframe as well, I also had to have a few pairs of new glasses due to my changing and decreasing visual acuity. Fortunately, I was still ok to drive and do most other daily activities without any significant problems.

Forties

In my early to mid-forties, I really began to notice more than the usual “age related” changes (bifocals, that is). Because of CORD-5, the glare had started getting much worse and it was now affecting more of my daily activities and work. I also became more aware of my visual acuity declining. Additionally, some of the visual field exams had started detecting mild central vision loss. All of these are textbook characteristics of CORD-5.

My vision finally reached a point where I had to wear sunglasses over my prescription glasses (which were also tinted), especially while driving during the daytime. I had also begun to notice that the sunglasses helped me read printed documents at work more easily too. I tried to be discreet about wearing the sunglasses while reading and working. Why? Some of it had to do with what others would think and how it would look. Yes, Corey Hart’s song, “Sunglasses at Night” was a hit song, but I didn’t want to be wearing them at work…. inside… I just didn’t think my vision was that bad yet. I wasn’t quite ready to face the “legally blind” thing yet. It was (and still is) a hard pill to swallow. I just wasn’t ready for it yet. And, the eye doctor I saw at the time, generally agreed with me too.

The eye doctor I saw at that time had a great assistant who intuitively suggested I get tinted lenses since I was already wearing sunglasses for more than just driving. I already knew that other family members had benefitted from a red-orange/amber tint and we tried that. After a little tweaking, we finally got the right shade and I had lightly tinted red-orange lenses made. These were so helpful in my job, for driving and at home. It reduced the glare enough that I could see to do most things much more easily at work and home. And, as the optical assistant mentioned, they sort of matched my hair. lol! My employers during that time were very good about my need for the tinted glasses and sometimes even wearing sunglasses at my desk and indoors.

Finally, in my early mid-forties, my visual acuity had gotten to the point that I would not be able to pass a vision screening through the State’s driver’s services office. My eye doctor at this time told me this and I broke down. Yep, a very upsetting visit and conversation.

At that time, I was no longer working for Vocational Rehabilitation but knew I could call them and get help and I did. (My prophecy of being a VR client in the future was fulfilled. lol!) They opened a case for me as a client and referred me to a low vision specialist for evaluation. Through the low vision specialist, I was able to get bioptic glasses for driving. The bioptic glasses were very expensive and I was very thankful that Vocational Rehabilitation was able to purchase them for me. With the bioptic glasses, I was able to continue to drive myself to work, kids to school, to the grocery store and other places. Each year, I had to go back to the low vision specialist for re-certification with the bioptic lenses, which was submitted to the State’s driver’s services. It was a small but tolerable “bump in the road” to be able to continue to drive. The low vision specialist was also able to order a pair of fit-over sunglasses that I could wear with my regular glasses; and, he had a couple of pairs of sunglasses (filters) specially made to fit the bioptic glasses as well.

Late Forties

In my late forties, I decided to finish my college degree (about thirty years in the making). Because I worked full-time, I opted for online classes, which actually proved to be an excellent option. Just as the first semester began, I contacted the school’s disability services office to get approval for accommodations. For me, accommodations were fairly simple… electronic materials (books, handouts, tests, etc.) and, as necessary, additional time for tests/exams. I transferred schools during my program and was given the same accommodations at that school as well. Most of my instructors were very happy to comply with the accommodations. However, there was one instructor (the only one) who was initially not willing to give the extra time on exams. I tried to communicate with him directly with no success. I reached out to the disability services office and my advisor, who in turn reached out to the dean. Eventually, the instructor begrudgingly granted the request, although he did make it known (in a very matter-of-fact manner) in one of his next video lectures that he did not give extra time on exams because of the potential for students to cheat. In so many words, he stated he wanted to maintain the school’s and department’s integrity so they would not lose their accreditation. Needless to say, I survived that class and semester only to find out that I had to take a “part 2” class with the SAME instructor! OMG! There always has to be one, right?! I just happened to be required to have him twice. lol! And, for the record, he remembered me and was still not pleased with the accommodations. Ultimately, I passed both classes and we both moved on, no worse for wear. lol!

During the time it took to complete my degree, my vision seemed to be doing ok, or at least I thought so. Ultimately, I was having more issues with my neck, shoulders and back, as well as worsening TMJ disorder, which meant more visits to my chiropractor and my primary care. These issues were worsening because I was having to strain more to see while doing so much more reading and writing. I would catch myself leaning over my keyboard to get closer to the the laptop screen so I could see it. (Not an ergonomically correct position AT ALL! lol!) Looking back, I realize now that much of this was (once again) me avoiding the obvious and not wanting to quit work or accept the roles of “disabled” or “legally blind.”

Along with that, I had to increase my screen display until it was no longer compatible with some of the software I used for work and school. With the help of Vocational Rehabilitation and a referral to an assistive technology group, I learned I could connect my laptop to a larger screen. This was an incredible accommodation that I was able to use for work and school. At home, I connected my laptop to a 32″ TV using a HDMI cable. At work, my employer bought new computers for the department and they were able to procure a 32″ monitor for my computer. Sometimes this still didn’t work with the apps and software I had to use, so my physical complications continued to be an issue.

I had also been able to get a pair of prescription “computer” glasses from the low vision specialist to wear just for working at the computer; they were also tinted dark red-orange. I wore these glasses most of the time since they helped with tasks I was doing close up. I wore my “regular” distance glasses for most other activities. I was still driving with the bioptic glasses and life was a little different but still do-able.

Fifties

In the last semester of my degree program (and also when I turned 50 years old), I was required to do an internship in an attorney’s office. This internship required me to do a LOT of reading and reviewing medical records, as well as filing and working in a legal database program. (The legal database program was NOT accessibility friendly! I contacted both tech support with the law firm and the software company with no success.). Because of this, and given the fact that I couldn’t use my phone magnifier app all day to review records, Vocational Rehabilitation purchased a CCTV for me to use in my internship (and future career). I was able to set up the CCTV with a 32″ tv screen to review the medical records, case files, and even to see the work computer screen when I had to use the legal database.

BUT… there was still one other issue that came back to haunt me during my internship… the yellow highlighters. Yep! On legal documents, it is ok (most of the time) to use yellow highlighter since it will not come through on a scan or copy of the original document. SMH! What was I going to do? I talked with the practice’s managing attorney, Vocational Rehabilitation counselor, the person who helped me set up my CCTV, the assistive technology group and others to try to find a satisfactory solution. Well… one evening while I was talking about it with my husband, he had an ingenious idea. He grabbed a highlighter and wrote on a piece of paper. He asked if I could see what was on it and I told him no. He went to the spare room and took something out of his fishing tackle box… yes, you read that right…. his tackle box. He shined a light on the page and… holy moly! I could read what he wrote! I could see the yellow highlight! It glowed just like a radioactive fish with two heads from the river below the chemical company! (Local joke, folks!) He had pulled a blacklight pen light from his toolbox! He said he used it for night fishing with fluorescent fishing line. Can you guess what happened next? Yep… we immediately ordered a new penlight for his tackle box because I confiscated that one for my internship! lol! The next day, I reported this new “accommodation” to all the people I had talked to about it and they ALL made notes to share with other clients who had been struggling with the same issue. (Moral of this story: accommodations and assistive technology can come in all shapes and sizes, and can be pretty much anything that works!)

Soon afterwards, I graduated (with honors) with a BS in Business Administration and a minor in Legal Studies. Next, I had to find a job. I sent out resumes to several places and about a month later got a call for an interview and was hired. I started the job about a week later. I began learning the job (and there was a lot to learn!). There was a short period in the beginning where I had to figure out their system and how to make it work with my vision needs. This job also entailed a lot of paperwork, data entry, filing and reviewing documents. Initially, my supervisor had some concerns about me using a CCTV for work because of the nature of the work, confidentiality issues, etc. For about five or six weeks, I was not able to use the CCTV which was very difficult and strenuous. I finally talked with her about my needs and accommodations and she agreed that we would give it a try. After she saw how much more efficient and effective it made me in my job, she was very happy to let me have it for work.

After about a year in this job (about 51 y/o), I had to stop driving. Although I was still “legal” to drive, according to my low vision specialist and the State driver’s services requirements, I had begun to have more difficulty with glare, central vision loss and distance vision. At this point, there were no other sunglasses, filters or tint that they could add to my bioptic glasses. No changes in prescription lenses would correct my distance vision. CORD-5 is something they cannot fix at this time. There is no surgery to fix this. There are no vitamins or supplements to fix this. There are no genetic therapies for this type of CORD-5. No anything. My vision was at the point that I was no longer able to drive safely after dark, in the rain or during the brighter parts of the day. So, for the safety of myself, other drivers and pedestrians, I stopped driving. Yet another milestone and life changing decision due to CORD-5. (I should mention here that the type of CORD-5 in my family is an autosomal dominant gene. There are genetic therapies being studied for CORD-5 from the autosomal recessive gene. More on the genetic research for my family in a later post. Until then, you can find some info here and here.)

I continued to work for another two years. My husband took me to work and picked me up each day. He was great because he never complained about having to do this for me. My final visit with my low vision specialist (Fall 2023) resulted in him certifying me “one last time,” with the bioptic lenses, but with me letting him know that I was not “safe” to drive and I would not pursue my bioptic certification in the future. He stated that he would most likely not be able to certify me again for driving either. So, it was a mutual conclusion regarding my driving abilities.

Meanwhile, during the internship and on into the new job with the clerk’s office, I continued to have more issues with my neck, shoulders, back and TMJ. Sometimes it would be so bad I would have to stay on medicine for an entire weekend and occasionally miss work. All of this was because of the strain from trying to see. Even though I had the CCTV, a larger monitor and adjusted display settings, my vision was still declining and adversely affecting my physical health. It had gotten to the point that the CCTV with the 32″ tv screen wasn’t large enough for me to see and do my work efficiently. I was trying… and again, not ready to give in to CORD-5.

The scales finally tipped in favor of CORD-5 in late 2023 and early 2024. I had a minor surgical procedure for another issue and was off work for two weeks. During that two-week period, I recovered and got ready to go back to work. When I returned to work, it was like a bolt of lightning out a clear blue sky. Within the first two weeks back to work, the stress and strain of trying to see to do my job was immensely painful. It was so obvious…. ahem… even a blind person could see it. (Yes, pun intended! lol!) Sadly, I knew it was time to seriously consider leaving work. Very soon after returning to work, I scheduled an appointment with a local vision specialist. At the appointment, I learned that my vision had declined to the point of “counting fingers” and my central vision had a “significant” deficit. In talking with this vision care provider, I learned that I was now considered “legally blind.” Wow… what a punch in the gut! But… I had known it was coming for some time. He gave me solid information that I needed to make an informed decision and prepare for the next steps I was about to take.

Leaving Work

In early 2024, with the information I had received from the eye doctor, the information I found on SSA’s website, the information from reviewing my options for disability benefits through my employer and the obvious physical issues after my surgery, it was apparent that this was the right time for me. I and my husband made the decision that I leave work because of my vision. It was a very emotional and difficult decision. Not many people decide they want to quit work and accept a title such as “legally blind” or “disabled.” But, as difficult as it was, I knew it was time. I had always been told that I would know when it was “my time” to leave work and file for disability benefits. I talked to (and cried with) my supervisor at length, as well as the department’s HR person, and the department head. I “got my ducks in a row,” submitted my notice of resignation, completed the paperwork to file for benefits through my employer and left work in late February. Was it easy? NO! Was it what I wanted? NO! Was it what was best for me? Time will tell but, in my heart, I believe it was.

What’s next?

As far as my vision, I cannot say. CORD-5 is unpredictable. To my knowledge, and as mentioned earlier, there is no reliable way to determine how severely it will affect each individual. My dad was legally blind at 27 y/o (I believe) while I made it to 53 y/o (kicking and screaming all the way… lol!) before I became legally blind. There are some people in my family whose vision is no worse than 20/30 or 20/40, which is really good. It is my hope and prayer that my vision doesn’t get any worse but, realistically, I feel that the progression I’ve had over the last 15 years or so will continue.

So, what does a person do when they are determined “legally blind,” “disabled” or “visually impaired?” Well, just like with any challenge or obstacle, they adjust and adapt. Some might even say that they “evolve.” For certain, I am having to learn a new mindset, explore and set new goals for myself and stay away from the trashy TV and bonbons. lol! It is natural to strive to survive. It is certainly an adjustment. I have worked since I was 16 years old, so not working doesn’t feel right. I miss my friends and coworkers. I miss working with and helping other people in so many different ways.

Is/was it easy asking for help? No. Losing your independence is another extremely difficult aspect of CORD-5. I can’t just pick up the car keys and run to the store or out to grab a bite to eat on a whim. I have to ask for help with colors. I have to use my magnifier app on my phone to see price tags at stores, read labels, etc. and I still miss things on the labels. I have recently received my first “white cane.” I am practicing with it at home and will soon take it out with me for a walk. But I am not afraid to be seen wearing my dark sunglasses, carry my cane or ask for help. A tough lesson to learn but asking for help is not a sign of weakness. It is a sign of strength, trust and faith; sometimes in yourself, sometimes in other people.

For now, I believe that going forward I will find a way to do what I can to help others. It has always been my nature to help others. Maybe through this blog I will learn some new skills, make new friends and learn to embrace my newest “situation” in life. I will be learning to advocate for myself a little more. Alternately, maybe I’ll help someone else learn to do the same thing… on one side of the issue or the other. Having a disability is hard but, sadly for others, accepting people with disabilities is even more difficult.

Take care!

Rebecca

Addendum (July 8, 2024)

I found this article on the NIH website and found it very interesting. It provides information about Cone Rod Dystrophies, but also provides information about support organizations and possible clinical studies. From the NIH site, there are links to orpha.net (specifically 600977 and 601777) and RARe-SOURCE. I never really considered this a “rare disorder,” but I have found good information and a possible new community in which to network and to seek support. I did see that this disorder affects less than 50,000 individuals in the US. ~Rebecca

One response to “My CORD-5 Journey”

  1. ALAN C. Avatar
    ALAN C.

    WELLLLLL, GUESS WHAT? I READ AND GO FOR IT LADY. YOUR DAD, ALWAYS.

    LOVE YOU
    FOREVER