Update

I am traveling to see an eye specialist this week. As a result, I am not certain what my posting schedule will be during that time. I hope to be back on a regular schedule by the end of the week.

In the spirit of raising awareness, I have an eye disorder called Choroideremia (CHM) which is slowly but surely leading me down the path of blindness.

What is Choroideremia?

Choroideremia (/kɒˌrɔɪdɪˈriːmiə/CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss and progressing to loss of central vision later in life. Progression continues throughout the individual’s life, but both the rate of change and the degree of visual loss are variable among those affected, even within the same family.

Choroideremia is caused by a loss-of-function mutation in the CHM gene which encodes Rab escort protein 1 (REP1), a protein involved in lipid modification of Rab proteins. While the complete mechanism of disease is not fully understood, the lack of a functional protein in the retina results in cell death and the gradual deterioration of the retinal pigment epithelium (RPE), photoreceptors and the choroid.

As of 2019, there is no treatment for choroideremia; however, retinal gene therapy clinical trials have demonstrated a possible treatment.

The good news is that science is getting closer to finding a solution to what ails me, whether that be in a few years or in ten to twenty. I have always kind of hoped eventually to have a robotic eye with a kind of Terminatoreque red light in it. A zoom in function, text file uploads about what I’m looking at, etc., would be very fun. But I’d settle for some gene therapy breakthroughs, too.

Some or maybe all of that should happen at the current rate of advancement within my lifetime… provided we do not set civilization back a few decades / centuries with a nuclear war or something. But what are the odds of that?

16 thoughts on “Update

    1. Thanks. Me too. Lol. I’ve been pretty lucky. I still have good central vision in my left eye and hopefully will for a long while. My right eye still works well, too, but the part of that eye that (in most people) is used for reading fine print is gone. So I can still see well and I can read/write fairly well.

      I am – I am told – annoyingly optimistic about all of this. I get to live in the age of gene therapy, the age where robotics might replace a retina, the age of driverless cars, Uber, etc. I am kind of braced to deal with what could be a long and tough next decade or two, but assuming I am still around at that time, there’s a good chance that the cure for this thing will come about in my lifetime. I have big plans for “Old Man Dusty With the Terminator Eyes.”

      1. Ha! Get in line for new eyes!
        With my diabetes and retinopathy, ereaders are the only thing for me now. No more reading of paper books unless it is some sort of emergency….

      2. Yeah. This is why I switched to “reading” audio books. If I have to look up a spelling for a Wheel if Time post I pull out the paper copy and a magnifying glass.

    1. Thanks! I ran about 7 hours of scans and tests the other day. Not ideal. But I found out my left eye is still in pretty good shape. Hopefully it degrades slowly. I am hopeful that some new gene therapy trials will come online over the next couple of years.

      I was hopeful that there was some secret “treat me like a Saudi Prince, here is a chest full of treasure” treatment out there but the good doctor said there was not. I’ll just have to be patient.

    1. Thank you! That’s very much appreciated. I’m praying for doctors to figure out the gene therapy treatment, for someone to fund it, and for my eyes to hold out while they do!

    1. Thanks! Trite is fine, though. I’m borderline obnoxious with all of this, either over-dramatizing it or under-dramatizing it to suit my own purposes. I am told though that I’m confusingly optimistic. For a long time I was really good at unintentionally hiding the fact I have an issue at all… but that started to backfire on the occasion that I actually needed assistance. (In one memorable instance, two friends and I entered a movie theater after the lights dimmed, I couldn’t see where they went, and then accidentally groped a stranger padding my way down the aisle to where I thought they went.)

  1. I fully understand where you’re coming from, as I too have CHM. I am also the co-founder and Engagement Director for the Choroideremia Research Foundation. Feel free to contact me any time at 800-210-0233, ext. 1 or by email corymacdonald@curechm.org . We have a lot of information about ongoing research being funded and resources for patients on our website, http://www.curechm.org We’re here to help, don’t hesitate to reach out. 🙂

    1. Thanks Cory! I appreciate the information. I am actually already in your CHM group on Facebook (as are several members of my family.) I recently visited Dr. Aleman at UPenn and had a fantastic experience with him and his staff. I *think* I’m staying pretty abreast of the latest as it relates to research and I also think I am fairly well versed and aware of resources I need… but I will not hesitate to reach out if I’m struggling with something, at some point. I’m really grateful for the work you put in to connecting people who are struggling with this. It’s a fun little community. I was recently inspired by the group to start thinking of a fun name for my cane.

      I saw on the group page and heard from Dr. Aleman about a big upcoming conference just to update where things are. I will not be going to it myself but I’m looking forward to hearing about it.

      1. Hey brother! Good to know you’re in the loop. If you haven’t already done so, I would encourage you to sign up for our email alerts, as not everything gets posted into the support groups. You can sign up here: https://www.curechm.org/get-involved/#getnews Also, we’ll be recording and/or live streaming some of the sessions, so be on the lookout for information on thet. 🙂

  2. Hi- please contact the Choroideremia Research Foundation if you have any questions- we are here to fund research and support CHMers just like you!

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