Living with Retinitis Pigmentosa 2016-11-16T08:37:40+00:00

Living with Retinitis Pigmentosa

by Cynthia Martinez

June 14, 2006. November 13, 2006. March 12, 2007.

brailleBeing the mother of eight, there are many dates and milestones in life I remember: births, first steps, first words, graduations, weddings and then births of grandchildren. But the three dates here aren’t milestones; they are detour signs. On those three dates, three of my children were diagnosed with Retinitis Pigmentosa (RP), an inherited degenerative retinal eye disease. Characterized by progressive vision loss, the first signs usually are night blindness, followed by loss of the visual field (creating tunnel vision), which over time includes the loss of central vision. It’s a disease that varies from person to person, even within a family.

Diagnosis

Max, the first to be diagnosed, was 14, getting ready to enter high school. He was looking forward to playing on the soccer team, carrying dreams to join the Air Force (like his big brother) and becoming a firefighter (a goal he talked of since he was four years old). At the time of diagnosis, he was legally blind with complete night blindness, as his visual field was less than 20 degrees. Yet his central vision was so clear, he didn’t even need glasses. And, as we quickly learned, he thought he saw just fine, like everyone else.

Marco, who was six at the time, was the next to be diagnosed. As soon as the teacher said, “he has trouble seeing the board,” my heart knew. Yet it would be that date when the ophthalmologist confirmed my fears. He also was legally blind. Again the night blindness was complete, his visual field was less than 20 degrees and his central vision was 20/100. Both boys were also affected by color blindness and glare issues by this time. Both were extremely sensitive to glare and light. While Max could see some blue/green hues yet, Marco had no color in his world.

The emotional roller coaster from Max’s diagnosis had barely left the platform, and the world of visual impairment with all of its terms, alphabet soup and unique adaptations/accommodations was still a foreign language. Now suddenly I had two children at different levels of blindness.

Then came Maggie’s diagnosis. She had some night blindness issues and her visual field tests showed just a small amount of loss (she misses low branches and high cupboard doors), and her central vision is 20/30. I always embrace the individuality each of my eight children was born with, and this time could be no different.

Just as my children are wonderful examples of how RP affects each individual differently, it would soon become obvious that this also included the area of progression. We would discover that progressive vision loss is a world of its own.

Handling Progressive Vision Loss

Progressive vision loss, depending on the aggressiveness, can be like running a race, as it has been with Marco. Or a gently flowing river as in Max’s case. Or you can be on hold, as with Maggie.

While I was familiar with IEPs and 504s due to my education and work experience in the field of special education, I was no different than any other parent. I was not prepared on the personal level. Not only were there accommodations in the school environment, but also modifications to classwork and equipment to learn about (magnifiers, CCTVs, Braille note). But there was also the consideration of Braille instruction. With progressive loss, this can be difficult, as the student needs to be emotionally prepared that he/she may need to rely on Braille at some point. Parents and family also need to be supportive and understand the need. And, in my personal opinion, someone in the family or a friend should be willing to learn along with the student.

Max started learning Braille at the beginning of the new school year. And although his vision decreased rapidly, he decided during the second year he no longer needed or wanted instruction. Marco also began Braille instruction immediately and has done excellently. The difficulty we ran into here was that his vision loss was so rapid that he couldn’t learn the Braille fast enough. Fortunately, through great teachers, he has now mastered what he needs to know. But, due to neuropathy (from other health conditions), it is not useful to him. Maggie chose not to learn, as her vision loss is not greatly impacted.

In addition, there is the orientation and mobility training. For me, this was a given for my children’s safety. Yet, it wasn’t that simple. Max, being 14 at the time, wanted nothing to do with using a guide cane. After all, as far as he was concerned, he saw just fine. I would soon learn this fight of the guide cane would have to be given up. The more we stressed the importance, the more I insisted, the harder he fought. And I would learn, whether child or adult, acceptance of the vision loss has to happen first. Marco is a true success story for orientation and mobility and has even learned excellent techniques when he must use his walker or his wheelchair. Maggie, after six months, decided she wasn’t at a point of needing the orientation and mobility training. This was fine, as we knew her vision was stable, and we know, if and when her loss progresses, she will not hesitate to begin again.

Advocacy, especially self-advocacy, is also important. When Marco was younger, I would write a letter/story for his class to help them understand. It included what his eye disease is called, reassurance that it wasn’t contagious, suggestions on how his classmates could best help him in the classroom and on the playground, a description of his vision, an explanation of the teachers who helped him (teacher of the visually impaired, orientation and mobility specialists) and equipment used. Often we would also devise a way of giving them a “feel” for his vision—such as a paper cup with a hole in the bottom the size of a straw to look through—which gave an idea of his visual field). By second grade, he was giving Braille presentations to other classes and can now successfully advocate for himself wherever he may be. Max, while hesitant in the beginning to say anything—again, he was a teen—he learned a lot when he went through an independent living program at the age of 16. He is now a life coach for other young adults in an independent living program.

The Emotional Consequences

At home, it has seemed, just as we adapted and accepted a child’s vision loss, progression would happen. Life became a circle of emotional ups and downs, adapting and learning. With each little bit of loss, comes the reality: at some point, my child may or may not be completely blind.

And for the child it is even more difficult. Not only does he have the fear of going blind, he is living the loss and often knows of the change before anyone else. For Max, not only had his dreams been taken away, but it also meant no driver’s license. Yet, he has friends with RP and his own sister who are able to drive. Marco often would say, “I just wish I was already blind.” The strain of trying to see, whether through his own desire to try and use what vision he had or encouragement from teachers to use his remaining vision, was just too much. While Maggie hasn’t had progression, she knows it will happen. The unknown of when and how rapid it will be leaves her fears wide open.

I often ask my children questions, which they of course deem strange. One such question is, “What do you see?” This has helped me to gauge better what adaptations we needed at home and how to best advocate for them. Another is, “How would you describe living with progressive vision loss?” And the replies:

Max: “Now that I have accepted it and what it means, it is just my normal. Frustrating when I lose more, because I have to re-learn everything again. But I’ve learned to laugh at myself when I make mistakes, so it’s not so bad.”

Marco: “It’s boring, because there are things you can’t do like other kids, such as play hide and go seek. I’m just glad I don’t have to try and see anymore.”

Maggie: “It scares me. While I worry when my loss starts, it might be aggressive like my brothers’. At the same time I feel guilty I have more vision than they do.”

Often when I first talk with parents of recently diagnosed children, I stress my boys’ very aggressive form of RP and include that Marco has an extensive medical history. While I know their road of progressive vision loss may be longer, it doesn’t mean it will be less significant or emotional. We just happened to have had a crash course!

June 14, 2006. November 13, 2006. March 12, 2007. Not detours; new roads.

Author: Cynthia Martinez • Date: 2/17/2012

Additional Resources

About the Author

Cynthia Martinez is the mother of eight children, living in AZ. Max, Maggie and Marco all have retinitis pigmentosa. Marco is her child with complex medical issues. You can contact Cynthia at Cfernstaedt@gmail.com.

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