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Stories From the Edge of Blindness

In 2002, Retinitis Pigmentosa changed my life. This is my story of a slow approach to darkness.

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Degenerative Retinal Diseases

Genetics and RP

I am, by no means, an expert when it comes to the science of RP, but I want to try to explain the bits that I do understand.  Anyone who has RP and reads my blog, please don’t hesitate to share your knowledge in the comments section; I have a lot to learn.

RP is most often characterized as an inherited disease.  There are 3 different inheritance patterns: Autosomal Dominant; in which one parent and one or more children are affected. Autosomal Recessive; in which both parents are carriers, but unaffected, and children can either be affected or just carriers or completely unaffected.  X-Linked; in which the disease is passed only from the mother and affects sons, more frequently and severely, than daughters. More than 60 gene mutations have been linked to these inheritance patterns.  More than 20 are associated with the Autosomal Dominant pattern, with mutations in the RHO gene accounting for 20 to 30 percent of all cases.  At least 35 genes have been associated with the Autosomal Recessive patterns, with mutations in the USH-2A gene accounting for 10 to 15 percent of all cases.  At lease 6 gene mutations are thought to cause X-Linked RP, with mutations in the RPGR and RP2 genes together, counting for most cases.  My understanding is that identifying the specific gene mutations is what will enable researchers to create gene therapies for all 3 types of RP.

There is a fourth group of people affected with RP: In 10 to 40 percent of  all cases of RP, only one family member is affected; in these families, the disorder is described as Simplex. It is difficult to determine the inheritance pattern of Simplex cases because those affected can have either no affected relatives, or be unaware of other affected relatives. Some Simplex cases can also result from a new gene mutation that is only present in the affected individual.  It seems to me that these Simplex people are kind of screwed; if no inheritance pattern or specific gene mutations can be located, then gene therapies can’t be applied to these patients.  I am, most likely, part of this Simplex group.

As far as I know, I am the only person in my family with RP.  My father’s father may have exhibited some signs that he had trouble with his eyes (primarily light sensitivity), but I think I was just trying to make sense of why I ended up with this crazy disease.  I wrote a poem about it that was published last year in Foxglove Journal.  Is it possible that I have Autosomal Recessive RP?  Possible, but unlikely.  And, my mom died 30 years ago, so there is no way I could find out if she was a carrier.

I just read about the Simplex cases this morning, but now Dr. Saraff’s  explanation about me having the most common form of RP, and his not recommending genetic testing, makes more sense. I feel like I am on an RP island, but apparently, there are a lot of people on the island with me. In some ways, my situation seems grim, but I don’t feel grim.  I still have hope, but after my appointment last week, I put it back on a shelf, out of sight and reach, which is exactly where I need it to be.

 

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The Goodness of People

I was trying to keep to a self enforced schedule of posting on Sundays and Wednesdays, but this is a weird week for me, so here I am on a Tuesday. And, this post may be a bit all over the place.

January is typically a rough month for me. The 2nd is the anniversary of my Mom’s death and at some point every January, I see my retinal specialist; this year, it is today.  These are, and will remain, difficult things for me, but this year, I came into January feeling more positive and less full of dread.  Yesterday, I read an important piece by, “A Gypsy’s Tale“, and it helped me see that the reason I am feeling different this year is due, in large part, to the goodness of others.  I hope you will take the time to read her extraordinary post.

Every year, when I see Dr. Sarraf, I go with some anxiety.  For a number of years, I went to see him and he told me (always with great enthusiasm) that my vision was stable.  I felt incredibly lucky, but began to expect the news; last year, he told me that my vision had deteriorated.  It may sound a bit nuts that I have to be told whether or not my vision has gotten worse, but it is actually really hard to tell.  RP progresses pretty slowly (in my case anyway) and there have been years when I was convinced it had gotten worse when it hadn’t, and years I thought it was stable and it wasn’t.  Basically, you don’t know what you aren’t seeing because you can’t see it.  For years, I thought I was seeing normally and it turned out I had this crazy disease and was going blind.  Anyway, I digress.

Today, I am anxious, but ready for whatever he may tell me and feeling fortunate for all of the love, support, kindness and goodness that I receive from others.  I feel fortunate to be a part of an extraordinary community of kind, caring and intelligent people. I feel fortunate to have a doctor like Dr. Sarraf and to be able to go to one of the best eye institutes in the country.  I feel grateful for the vision I still have.

Todays visit will also be different because I am going to talk to Dr. Sarraf about genetic research.  My tendency has been to keep myself away from news about the research on retinal disease; I followed it in the beginning, but it felt as if I was being given false hope over and over again, and at the end of the day, I still had RP and had to learn to live with it.  Recently, there has been a lot in the news about a new FDA approved gene therapy that treats retinal dystrophy (basically, deterioration of the retina), but that term is a huge umbrella over a multitude of genetic mutations.  It may sound nuts, but when I heard the news, I wasn’t excited; I took it in stride, but my step mom read about it and got all excited and saved the article for me and  insisted I talk to Dr. Sarraf.  It is hard for her to understand that I don’t really want to know about the research, that all of these years, I have been living with RP and trying to accept the reality of my vision and how that impacts my life; but, this was the first time she has ever talked to me about RP (it can be easy to ignore – that is another post for another time), and I was touched by her enthusiasm.

So, today I will talk to Dr. Sarraf about genetics and ask him to refer me for genetic testing. I am stepping onto a new path in my RP journey, but I am curious and open to learning more and it is probably about time.

 

Writing Sample Part 3 – Signs

We all look back at our lives, pick them apart and look for clues that would have helped us along the way, told us what was up ahead.  We discover things about ourselves that may have been present or growing since childhood, and inevitably think about the signs we might have missed.

A few months ago, I was going through some old family photos, and I came across a picture that was taken on a beach in Mexico when I was about three years old.  My eyes were squinted against the glare of the sun and I was reaching for my mother’s sunglasses, perched on a rock nearby.  I looked desperate to escape the bright sunlight and it is a look I recognize, a feeling I have experienced for years.  Growing up in California, my family was always going to the beach.  My parents and my siblings loved spending hours in the sun, but I preferred cloudy days.  I was called strange, moody and different, but even then, the sun hurt my eyes.

As I got older, I developed a reputation for being clumsy; I was always tripping and stubbing my toes and knocking things over. I couldn’t hit a softball in P.E. class or catch the ball when I was forced into the outfield.  I appeared careless, un-athletic, lost in day dreams; I didn’t know it then, but my retinas had begun to die a slow death.

I remember an afternoon when I was learning to drive; I was in the car with my mom, and she began shrieking that I was driving too close to the edge of the road and we were going to go off the cliff.  My mom was prone to dramatic expression; there wasn’t really a cliff, just a five-inch drop off the road into the dirt.  She thought I wasn’t paying attention, but actually, I had no idea how close I was to the edge.  I couldn’t see the side of the road.

Into my 20’s I continued to trip and fall and live up to my reputation as either the clumsy day dreamer, or the newer moniker of drunk girl.  I had a friend tell me I was the only 24-year-old she knew who actually fell down and skinned her knees.  I missed curbs, crashed into street lamps and collided with pedestrians racing down the Boston sidewalks to escape the cold.  I thought perhaps my friends were right and  I was drinking too much; I had no idea that the edges of my vision were disappearing.

For years, I nursed the bruises that peppered my skin and laughed along with my friends about my clumsiness.  I chastised myself for being careless and inattentive.  After my RP diagnosis, I became diligent in searching for current markers of my deteriorating vision. I notice how the glare of the sun gets meaner and how once effortless tasks are becoming more difficult.  I feel the light slipping away every time I call out my husband’s name, unable to find him right in front of me.  I feel helpless and terrified as the darkness slowly swallows up the contours of the world.

Writing Sample Part 1 – Retinitis Pigmentosa

Along with my application for the Emerging Voices Fellowship – that I didn’t get (fuckers) – I had to send in a writing sample.  I felt compelled to share the pieces I sent them, so this will be the first of 5.  If you know me well or have been following my blog since it’s inception, you may recognize some of the stories, but they have been edited again and again since their original appearance.

*Retinitis Pigmentosa (RP): A group of inherited disorders in which abnormalities of the photoreceptors (the rods and cones) of the retina lead to progressive visual loss. Abbreviated RP. People with RP first experience defective dark adaptation (night blindness), then constriction of the visual field (tunnel vision), and eventually, late in the course of the disease, loss of central vision. 

 The first time I heard about Retinitis Pigmentosa was from Barbara Walters. She reported a story on 20/20 about a family whose father and three children all suffered from a rare eye disease that caused something they called “tunnel vision.” I remember all the kids were very blonde, with extraordinarily bright blue eyes and pale skin; it was as if they were rarely exposed to the sun.  The program attempted simulations to show what an RP sufferer’s deteriorating vision is like, and it was terrifying; can you imagine your entire view of the world being the size of what you see through the hole in a straw? Knowing that the hole would get smaller and smaller until everything was darkness?  I remember feeling frightened and sad for the family, and thinking how lucky I was that everyone in my family had such good eyes.

The second time I heard the words Retinitis Pigmentosa, I was in my late 20’s and visiting my optometrist for a routine refraction. I was there to get some new glasses because my night vision seemed to be worsening; not unusual in nearsighted patients.  He asked if he could dilate my pupils and take a closer look inside my eyes. The exam only lasted about ten minutes, but it seemed like an hour.  It was only the second time my pupils had been dilated and it was excruciating. The bright light from his instruments felt like fire and my eyes burned.  When he finally finished the exam, he said something about bone spicules in my retinas and a rare genetic disease that caused blindness. He referred me to a specialist named John Heckenlively.  I nodded my head, pretending to understand what the hell he was talking about, took Heckenlively’s number and proceeded to blow the whole thing off. There was no way I could have some random, rare eye disease.  No one in my family even wore glasses; except me of course.

Fast forward about five years; I am walking out of a Borders bookstore heading toward my car, and as I turn a darkened corner, the sidewalk in front of me disappears. It was like the darkness had consumed the ground beneath me. I stood there in abject terror for a few minutes, until I looked up and found a street light shining dimly a block away. I rushed toward the light, telling myself to call the eye doctor in the morning.  I obviously needed some new glasses.

Two days later I am in the Ophthalmologist’s waiting room, filling out-patient forms, and I come to the question about previous problems with eyes. I hadn’t thought about my visit to Dr. Vogel, the aforementioned optometrist, or Retinitis Pigmentosa in five years, but sitting in that waiting room I remembered, and I think at that moment I knew something was wrong, something that couldn’t be fixed with new glasses. That afternoon I had my first visual field test and was once again referred to Dr. Heckenlively. This time I couldn’t ignore it.

Five months later, I was formally introduced to Dr. Heckenlively and Retinitis Pigmentosa.

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