The title of this post may be a tad misleading. The best eye appointment would either be Dr. Sarraf telling me it has all been a dream and I don’t actually have RP, or Dr. Sarraf giving me a pill that would cure the RP and completely restore my sight. Given the fact that those two things are pretty unlikely……it was definitely the best eye appointment ever. Continue reading “Best Eye Appointment Ever”
I have been in a bleak place lately. It is a familiar place, a place of introspection where I can try to figure out what is bringing on the sadness. I thought it was because of the shit storm of rejections I have been getting, but they were just the cap on feelings that were already dragging me under. I have been feeling overwhelmed for so long.
After coming to the conclusion that it isn’t the rejections that are pulling me into the clutches of sorrow, I had to stop and breathe and look behind my eyes to see what has been troubling me. This can, at times, be a herculean task, as I seem to be troubled far too often, and it is never just one thing. But, I have become good at peeling away the layers, seeing what lurks beneath.
Continue reading “By Your Side”
It is hard to find words to describe Kim. She is electrifying. Kim is bold, strong, hysterically funny, brazen, smart as hell, the epitome of a tough cookie, and through constant pain and facing seemingly endless adversity, she wrote a book, she writes for more than one blog, and she makes everyone who meets her feel like they are special! She has an incredible history and is a fantastic story-teller. She is caring, compassionate and beautiful. She is a total firecracker. You will love her blog!
And, I discovered that Kim has been hiding something from all of us…..Kim is a poet!
It began with the acceptance of a challenge to write a Sidlak poem, then a Love Poem in response to the Where I’m From adventure, and then Kim led me to another poem she wrote which was published in The Immortal Arts. It is a heart wrenching poem, simple yet heavy with sadness. It is the capturing of a moment in grief. It is beautiful.
A Poem by K. Lynel
I walk down the familiar corridor
Their eyes meet mine then search the floor.
Even though they called for me
I suck in my breath, my shoulders pull back
My father is seated in a white plastic chair.
My brother is quiet, he has gone
He is no longer here.
I kiss his brow, cold and salty
His eyes no longer search for me.
I whisper go home now, you are well
And you are free
I reach out to my father saying we must go
Kory is not here anymore, he is home.
I feel my breath betray me as I shutter,
And finally, I cry.
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.
This has been a monumentally good week for me in regard to my vision. Finding out that I will likely maintain enough sight to be able to read and write and see the faces of those I love, has altered my path and left me feeling immense gratitude. I have allowed myself to feel genuinely happy about this, which isn’t something I always do. However, I am also left reflecting on how RP has and will always impact my life.
I have spent so many years on the edge of blindness, agonizing about living in this confusing place between being sighted and being blind. I have held my breath in anticipation of being pulled from the precipice by inevitable darkness. I have been on a wire, balancing precariously, waiting. Now, knowing that I may never go completely blind, I am elated, but still on the wire, still faced with the confusions that come with being partially sighted. I had resigned myself to the future I thought RP had in store for me, but now I have to figure out how to settle onto this weird middle ground, how to resign myself to the fact that I may always reside on the edge of blindness.
I am, of course, grateful for the vision I maintain, but living in what I have called the “purgatory of sight”, comes with its own set of challenges. I am not a religious person by any means, but from what I have read, purgatory seems like a pretty fucked up place to be. It is neither here nor there. It is nowhere and nothing. It is a place of invisibility, which does not hold the cool factor of a cloak of invisibility, because you can’t take it off when you feel like being part of the clear and whole picture. There is a picture and I can see it, but it will never be clear and it will never be whole. I feel stuck, trapped, truncated. But, this isn’t new. This has been my reality for years. What’s different is that I have been given a choice I didn’t know I had a week ago. I can choose to focus on the good fortune of the sight I still have and may have for the rest of my life.
The landscape in front of me has at once changed and stayed the same. I still have RP. I am still blind and the reality of my brand of blindness is incredibly confusing. I am still on the edge, but perhaps it is where I have always been, long before RP came into my life. It is a crazy view from where I stand, but it is the view that gives me the words that I write and see on the page. I can see the words on the page. I will be able to see the words on the page tomorrow and maybe for the rest of my life. I don’t take this lightly. I am so incredibly lucky.
I am so incredibly grateful and overwhelmed for the outpouring of care and support I have received since my last post. I am a lucky woman!
This has been a month of having my whole body poked and prodded and getting preventative procedures, but today I am finally home and done with all of it and wanted to write an update regarding my visit to the retinal specialist.
I will start by saying, it was a good visit. That said, it was an incredibly long day in which my eyes were put through hell, but I am a pro at this point, so I take it all pretty much in stride.
I won’t give a detailed account of the 5 hours I spent at the Eye Institute, but I do want to write a little bit about the research and gene therapy thing. Truthfully, I am still learning about the science of it all, and if it interests anyone, I will share information as I learn more, but I did learn a little yesterday, which leads me to more questions, which is I guess the nature of science, in some ways.
I have met others with RP who feel the way I do about following the research too closely and many who are very invested in following it closely. My experience at Jules Stein yesterday is a good example of why I personally haven’t chosen to follow the research. Part of it is emotion and part of it is trust and good fortune. I was in the waiting room (about half of the visit is always spent waiting) and started to think about this new FDA approved gene therapy, which led me to start thinking about what it would feel like to have the independence of being fully sighted, and I started to feel excited and hopeful. How cool would it be, after all of these years, to be able to feel the ease and convenience of a sighted life? Then, I overheard bits of a conversation; a patient and a research assistant were sitting near me going over release forms for the patient to be enrolled in a research study. During the conversation, the woman asked something about retinal diseases, other than her own, that were part of the study; the research assistant said something along the lines of,” there are other diseases, like Retinitis Pigmentosa, but they are much more difficult when it comes to genetic research”. I don’t know if this is true, but it was enough to knock me down from the heights of hope, and that fall is a long fucking way down. I started crying right there in the waiting room (yes, I am that person) and thinking of a way to describe the feeling of plummeting from hope into despair in regard to the research issue; perhaps it is like being offered something sweet over and over again and every time, you are left with a mouthful of bitterness. It was a good reminder for me of why I don’t keep up with research. I am not criticizing those who do; we all have our own ways of grieving and coping and we can only be true to ourselves in that respect. There is no right way to do it; there is just what works for us as individuals.
I was feeling pretty depleted, but I decided I would talk to Dr Sarraf anyway and get his take on it. I asked about the gene therapy I had read about in the New York Times, and about being referred for genetic testing; he told me that there is no existing therapy for me, that I have the most common form of RP and therefore the genes related to it are more difficult to pinpoint (this is not a direct quote). I felt thoroughly un-special. He said that he doesn’t recommend genetic testing right now, but let’s see what happens in the next few years and if there are trials that are looking hopeful, we can talk about it again. So, this is where the trust and good fortune part come in. Dr. Sarraf is one of the two leading researchers at UCLA, in the study of degenerative retinal disease. I am incredibly lucky to be one of his patients, and I trust that if there is a treatment for me, he will make sure I know about it and get in on it. I am lucky to be able to leave the research stuff in his hands, while I go about the life with RP stuff.
I think Dr, Sarraf was feeling bad about not being able to offer me anything in the realm of treatment, but, he gave me some really good news! He told me that given the fact that the RP hasn’t started invading my central vision, he thinks there is a good chance that I may never go completely blind. This is incredible; it means I will be able to keep reading and writing with the use of my eyes. It means I can look at my husband’s beautiful face and into the loving eyes of my pugs and my cats, for many years to come. It means I will be able to travel and see things I have never seen. It is not lost on me how incredibly fortunate I am.
Dr. Sarraf’s parting words to me were,” So, the good news is that your central vision isn’t deteriorating( with the exception of a very minor change in your right eye), and the bad new is that you have RP and very limited peripheral vision”. I already knew the bad news, and the good news, at this point, far outweighs the bad.
I am not particularly brave or strong; no more than anyone else and much less than many. I am finding my ways of coping with my personal journey through this crazy disease and through life. It is my way to look at and embrace the messy things that face me; I have learned that trying to escape them doesn’t work. Some days are great and some days seriously suck, but I choose to muddle through and write about it honestly. I try to keep my blinkered vision at bay and be as truthful as I can, as a woman and as an artist. I am grateful and I am so damn lucky!
Now, it is time for me to rest my eyes, and treat them with kindness, respect and gratitude. Thank you again for all of the amazing support. And, please please don’t hesitate to ask questions; I know I always inevitably leave stuff out.
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.
I was 33 when Dr. Heckenlively told me I was going blind. After dropping the bomb, he took a vial of my blood to, as he so eloquently put it, “rule out syphilis”, gave me a list of vitamins that might slow the progression of my disease, and sent me on my way. I felt like I had been punched, like I was lying prostrate on the floor and couldn’t breathe. I was overwhelmed, felt clueless and afraid. I had no idea what RP was going to do to my life.
When I first heard about RP, it was from a TV show, and a million miles away from my reality. The TV program talked about RP being genetic and introduced families with multiple people affected by the disease; the first time it was suggested that I might have it, I ignored it because no one in my family even wore glasses, except me. I soon learned that RP is most often genetic, but not always; there are a handful of us that are the sole proprietors of RP in our families, and in my case, I was completely unprepared for it.
I did my share of online research in the months before my diagnosis, but a lot of it was about the genetic aspects of RP; this gave me a false hope that I didn’t have it. I read countless simplified descriptions of RP symptoms: Night blindness, loss of peripheral vision and eventually central vision, resulting in total blindness. I am not a particularly sciencey (yes, I know that isn’t a word) person, but I will try to throw a little bit in here. Basically, the retinas are made up of 2 kinds of cells (photoreceptors), called rods and cones. The rods are responsible for low light and night vision, while the cones are responsible for color and detail. There are way more rods than cones, and the rods are the ones that begin to degenerate first in a disease like RP; that is why we experience night blindness and a loss of peripheral vision. I am sure this is a very rudimentary explanation, but hopefully you get the sciencey picture.
When most of us think about peripheral vision, we think about stuff that is seen way off to the side, or out of the proverbial corner of the eye. The truth is, because peripheral vision is dictated by the rods and the rods are pretty plentiful, peripheral vision is actually most of our vision. It is what you see all around you, not just way off to the side.
About six months after my diagnosis, I remember looking for a coin purse that I had dropped on the ground; I was looking all around, repositioning myself, but I couldn’t find it. The person I was with was perplexed and said, “it’s right in front of you.” The thing is, that phrase, “It’s right in front of you,” means nothing to someone with RP. When you have RP, right in front of you can shift and change and disappear completely. It can seem to an observer that I am looking right at something, but if my eyes are directed just slightly to the side of whatever it is I am looking for, it may as well be a grain of sand in the ocean. Peripheral vision is huge and complex.
I have searched for my husband in our apartment, walking past his desk 10 times, and it turns out he has been sitting there all along. When my dogs are standing at my feet waiting to have their harnesses put on for a walk, I have to scan the area several times to locate both of them. In a restaurant, I never see the waiter trying to hand me a menu, and glasses of water seem to materialize out of thin air. If I drop something on the ground, I often have to ask for help to find it. RP comes with so many challenges that I could never have imagined, but I am learning to be more patient; to take the time I need to find things and not allow my frustrations to take control.
I am sure that I leave stuff out that people might be curious about, and I welcome curiosity, so please don’t hesitate to ask questions.