Taking Stargardt Disease by the Hand

by Marisa Snyder

So, I have been sitting in this “world of alones” dealing with an orphan disease which no one had ever heard of and no one even remotely close to me has it. What is “Stargardt disease”? Who is affected by it? How does one get it? What happens once you are diagnosed with it?

Gosh, I was diagnosed with this juvenile form of macular degeneration in 1990, just one month after my 21st birthday. I was going for an eye examination in order to gain employment at a local day-care center. I was in my junior year of college and had had many ups and downs already. My mother was taking me for a “proper eye exam,” since she had felt that going to “Eyeland Optical” just was not good enough for me. “You have astigmatism. You should not be wearing soft contacts. It’s no wonder you can’t see the board in your classes. No, this time, we are going to see Dr. Traupman (he happened to be our family ophthalmologist) and YOU BETTER CONCENTRATE THIS TIME ON THE EYE CHARTS!!!!!”

We arrived to our appointment, but Dr. Traupman was not there. The resident doctor was, Dr.Saravitz. He was a rather young doctor and he was filled with patience and knowledge. After spending more than two hours in the examination room, he was unable to give me a proper prescription. He was perplexed about the situation and my mother was unnerving. “Marisa, just concentrate on the letters!” “Mom, I am. I am doing my best. Do you really think I want to sit in this chair for this long?”

The doctor could sense my mother’s frustration and mine too! He continued the exam, but finally said, “You know what? I think there may be something more going on here. How long have you been wearing contacts? How long has it been since you could not see the board in school?”

He continued with his questions and then said, “This may be a long shot, but I would like to examine your retina. It almost sounds like something called “Stargardt disease.”

My mother questioned him further about it, but he said he would not know without looking into my retina. So he did. “Ah, yes, hmmmm . . . . aha . . . well, I think that we may have an answer as to why we can’t get a good prescription. I am seeing some little white dots on the retina. I can’t be 100% sure, but this definitely could be the root of the problem.”

My mom had asked him more questions, but he had said he really couldn’t tell her much about it. I would need to be seen by a retina specialist and have further testing done. We left feeling a little more relieved, yet wondering about this mysterious disease.

I was still convinced that the reason I couldn’t recognize my friends’ faces was because of my astigmatism. I was a bit vain in wanting to wear contacts rather than eyeglasses. I was convinced that I was paying the price for comfort and vanity.

The appointment followed a few days later and I met with the retina specialist. He asked a lot of questions, took some tests and looked into my retina. “Yup, it looks like Dr. Saravitz was right on the money. We will still need to do a fluorescein angiogram (a dye test used for taking pictures) of the retina to be certain. This is an extremely rare disease, and it is hard to detect. He sent me over to the hospital for the testing, and I would need to come back in another day or two to confirm the diagnosis. It was indeed a very confusing and emotional time, and there were no answers to any of our questions.

We waited the two days and returned to the familiar office. The specialist placed the results of the tests on the projection screen. He showed us the dots in my retina. “If you look here, you can see the lesions. They’re pretty scattered right now, but as the disease progresses, they will form a rather large mass resulting in central vision loss.”

“How much vision loss?” asked my mother.

“Well, Stargardt disease results in legal blindness.”

“Oh my God, did he just say ‘blindness?’” I thought to myself. My stomach turned into a knot. What does he mean by “legal blindness”? I’m only 21. I have my future in front of me. What is this man saying?

I quickly shot out questions to him. “What will I see? Will I see light? Will I see shades of gray? What will I be able to see?” A tear fell from my eye. The doctor said, “No, no, you will still see light and still have some color vision, but as far as what you will be able to see, I cannot tell you.”

I began crying harder. The doctor snapped at me, “Why are you crying? I just told you that you will still see color!” My mom quickly came to my defense. “You just told my daughter she is going blind. How do you expect her to react?”

We both felt sick. What next? “Well, Will’s Eye has a very good retina specialist there who could probably help you even more. Would you like it if I can get you in to see him?”

“Yes, please,” we replied.

There were way too many questions to ask, and there were no answers to be given. What we heard that day were the words: RARE, LEGAL BLINDNESS, NO TREATMENTS.

This time, both my father and mother made the trip with me to Philadelphia to meet up with another specialist. I would have more testing done, and this time, the doctor would be able to tell me a little more than the others.

The trip was long and quiet. Nerves were frazzled, and depressed thoughts drifted in my mind. We got to Will’s Eye Hospital, and I had a series of testing done. The specialist met with us after he thoroughly looked over my results and confirmed that both previous doctors’ findings were accurate. He had given us some literature about Stargardt disease, and it was not good. No treatment, juvenile form of macular degeneration, autosomal recessive disease, one in every 100,000 people have it, hard to diagnose, legal blindness, low vision aids. . . “

Perhaps it was a bit much for me to process at that time. I had no support. There were no answers. We relied on God. My parents immediately took me to the Shrine of St.Lucy. I would be prayed for by the nuns, and I would be placed on many prayer lists. I, however, had a deep faith. I took this disease by the hand and would not allow it to stop my plans of graduating.

My professors, though, had a very different agenda planned for me. “If you really have this disease (they did not believe me), then why bother becoming a teacher? You will need to find another career. Perhaps you should be learning Braille . . .” There were no words of encouragement nor the support that I would need to get through this.

It was then that I needed to find my inner strength. Would I lie down like a dog, submissive to this disease and allow it to control my life, or would I look it in the eye and say, “I can do this!”? Well, I fought, and fought hard. Despite the Dean of Special Education’s discouragement not permitting me to student teach. “You won’t be able to handle it. You are already behind. If a parent looks at you the wrong way, you’ll break down into tears.”

I could not believe what he was saying. How could he speak to me in that manner? He must not know me very well. My boyfriend was called into his office then, and he spoke up for me. “This woman works in one of the most difficult inner-city day cares. She is the one that the parents come to when there is a problem. She can handle kids like no one else can. It would be a crime if you did not give her a chance.” There were a few more words shared, and the dean gave me permission.

I worked hard. I continued working at the day care, taught in an SED (socially and emotionally disturbed) classroom and took a night class, all at the same time. My vision was slowly deteriorating, but I did it and managed to pull A’s.

Since the diagnosis, I had really only met one other individual with the disease. He had reassured me about things I needed to know. Like would my children be born with it? What would I be able to see in the future? He said the chances of my kids having this were only 1 in 4, and that was only if I married someone who also was a carrier, which was highly unlikely. He was about 42 at that time and said he still had enough vision to do much of his work, but he did not drive. He was using a bike to get around, and that, he said, was the most difficult thing about Stargardt disease.

I lost my vision pretty rapidly at the age of 25. I stopped driving when my vision was 20/200 – 20/400, and relied on family members and friends for rides. I had two children and continued to work as a resource room teacher. I was also asked to become the religious director of my large parish simultaneously. I did my work without many adaptations, and not many people knew of my disability until they saw me reading from the pulpit using my magnifier. Of course my students knew, and they thought that it was pretty cool. I did not use many low vision devices and pretty much fought the idea of utilizing them, though I always wore a magnifier pendant around my neck. When I discovered the ZOOM button for the text on the computer, a whole new world opened.

I changed jobs to work as a teacher in a partial hospitalization school and loved that, but I did have difficulty with the planning and seeing the teacher’s manuals. My supervisor did not believe I needed accommodations, and that was when I contacted the office of the Bureau of Blindness and Rehabilitation Services. I had been recently separated from my husband and I was truly struggling. The BBVS came in and helped me. They purchased ZOOM-Text for me, and I was in awe of the software! I could actually see again! They also purchased a laptop for me, as I was working another job as a Therapeutic Support Staff and would need the accessibility of it. I was ecstatic.

Taking yet another job as the “Instructional Support Team” coordinator at another school, BBVS came into my workplace and helped me with filing and setting up my office with the proper lighting. I set up ZOOM-Text and was ready to go! This was a tremendous help, and with the gift of technology and other low vision devices, the word “legally blind” no longer scares me. I am now 39 and feel that I am still accepting some of the disease’s limitations. Since it never goes away, and life changes occur; it is up to the individual to find ways to make things work. Thinking out of the box is an excellent way to manage your life.

Just this morning, my younger son was sharing the highlights of his hockey scrimmage with me. I have realized that being at my two sons sporting events and not being able to pick them out in the crowd makes me sad. So I thought now is a good time to get the video recorder up and running so that I can come home and see his game. Perhaps I will need someone else to video tape it for me, but I will be able to delight in my boys’ accomplishments. A few extra steps or challenge is a great recipe for opportunity!

I am currently writing a young adult’s fictional Christian novel and am starting an on-line store for low-vision devices. I like to reach out in my community and I am feeling that it is time to inform others about hidden disabilities and do some sensitivity trainings. I am in graduate school for pastoral counseling with a goal to be licensed as a clinical therapist.

Living with visual impairment is indeed challenging and creates obstacles, but it is important to know that a mountain climber cannot climb to the top the first time he tires. It takes strength, endurance and persistence. Sometimes we fall, and that’s okay, as long as we pick ourselves up and try again!

A final comment: I have found it amazing that I have had Stargardt disease for almost half of my life, but am just now discovering so many with it and so many new support groups. The Internet is a great place for research. I suppose I was so busy in my own field, I just did not take the time for myself and my vision. MD Support and the Foundation Fighting Blindness are great tools to use for help!

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