Blind and Visually Impaired Community
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Possible Stargardts Diagnosis (self.Blind)
submitted by Link2999
A little bit of back story but I'm a 30/M with a lot of medical issues. Got a bone marrow transplant in 2003 for a Primary Immunodeficiency and the graft ended up falling to 31% so it was considered a failed transplant. Wound up with lots of immune related problems like psoriasis, a sun allergy, and lung damage.
In June of last year I was diagnosed with Marginal Zone Lymphoma. They recommended a stem cell transplant right away and had to do genetic testing to find the best donor match. Turns out my brother who was my first donor had the same mutated gene as me (CTLA4), but no signs of the condition. Even though he doesn't have symptoms, it most likely messed with my chances for a successful transplant the first time around.
I'm actually 2 days post my hospital stay where they kept me for around 2 months. Staying close to campus until sometime in June for follow up. Had some issues with the transplant that almost ruined my Kidneys, but my numbers are coming back up at a good pace. Very close call. Otherwise besides some other supposedly temporary issues, my chimerism is at 100%.
Just got a call from the geneticist who took my sample back in June right after my clinic visit this morning. I was actually in the bathroom giving a urine sample at the time so it totally came out of nowhere. Turns out I have 2 ABCA4 mutations that may be good for Stargardts. They can't tell me if the mutations are on separate genes or not yet, if they are it's pretty much a confirmed thing. If the 2 mutations came from a single parent, then I'm most likely just a carrier which is what we're hoping for.
My eyesight has just changed at age 29 where I needed glasses, but it's for nearsighted at a low prescription in 1 eye. Had 3 ophthalmologists prior look at my eyes and take pictures and all of them say my eyes are healthy other than the slight stigmatism. Had some trouble with dry eye and blurry vision where my vision would fog over with tears when reading for a few days at a time in the past year or so, but it quickly resolved.
Anyways, this is scary stuff. Don't know if I have it yet but my parents are gonna be tested and it'll take around 6 months for the results.
Anyways I'm obviously a bit nervous about it right now and the long diagnosis time doesn't really help. Just posting about it to air my thoughts. Looks like some treatment options are being worked on and some headsets seem to improve QoL a lot. Reading and video games have been my coping hobbies so I really don't want to give those up.
The geneticist also didn't seem to know too much about the disease. I originally asked if I would be completely blind and said yes if I did end up getting it. Later called back to ask some more questions and he clarified it better and apologized, but it still sounds bad.
In June of last year I was diagnosed with Marginal Zone Lymphoma. They recommended a stem cell transplant right away and had to do genetic testing to find the best donor match. Turns out my brother who was my first donor had the same mutated gene as me (CTLA4), but no signs of the condition. Even though he doesn't have symptoms, it most likely messed with my chances for a successful transplant the first time around.
I'm actually 2 days post my hospital stay where they kept me for around 2 months. Staying close to campus until sometime in June for follow up. Had some issues with the transplant that almost ruined my Kidneys, but my numbers are coming back up at a good pace. Very close call. Otherwise besides some other supposedly temporary issues, my chimerism is at 100%.
Just got a call from the geneticist who took my sample back in June right after my clinic visit this morning. I was actually in the bathroom giving a urine sample at the time so it totally came out of nowhere. Turns out I have 2 ABCA4 mutations that may be good for Stargardts. They can't tell me if the mutations are on separate genes or not yet, if they are it's pretty much a confirmed thing. If the 2 mutations came from a single parent, then I'm most likely just a carrier which is what we're hoping for.
My eyesight has just changed at age 29 where I needed glasses, but it's for nearsighted at a low prescription in 1 eye. Had 3 ophthalmologists prior look at my eyes and take pictures and all of them say my eyes are healthy other than the slight stigmatism. Had some trouble with dry eye and blurry vision where my vision would fog over with tears when reading for a few days at a time in the past year or so, but it quickly resolved.
Anyways, this is scary stuff. Don't know if I have it yet but my parents are gonna be tested and it'll take around 6 months for the results.
Anyways I'm obviously a bit nervous about it right now and the long diagnosis time doesn't really help. Just posting about it to air my thoughts. Looks like some treatment options are being worked on and some headsets seem to improve QoL a lot. Reading and video games have been my coping hobbies so I really don't want to give those up.
The geneticist also didn't seem to know too much about the disease. I originally asked if I would be completely blind and said yes if I did end up getting it. Later called back to ask some more questions and he clarified it better and apologized, but it still sounds bad.
K-R-Rose 3 points 1y ago
What you’re going through must be very hard. I’m sure my words won’t be of much comfort to you, but no matter what the outcome is, you will still be able to have a very happy and successful life. Blindness is not bad, it is just a different way of experiencing the world. I have always been VI, so I cannot offer support on the possibility of transition, but I can definitely say that I am very happy living my blind life, and you can be too if that is what the future holds
DHamlinMusic 2 points 1y ago
Going to tack on to this with even if the tests are positive you'll be able to have time to prepare which not everyone gets, that is a huge chance that should not be ignored. While going blind sucks both at first and even after you've gotten used to it for the most part it is not the end of the world. I have been blind for just over 2 years now, I am 34.
Link2999 [OP] 1 points 1y ago
This might sound insensitive, but how would you prepare for this? I guess a better way to rephrase it is if you could have a do-over, how would you prepare?
Right now I'm just looking up different treatment options and ocular aids. On the positive technology is always advancing and new options are available each day.
Another plus is Stargardt treatment options are in the works with phase 2 and phase 3 trials ending this year. There was one med, Phospholine Iodide, that was discontinued by the manufacturer for the treatment of Stargardt's was recently approved by the FDA a few days ago as an Orphan Drug Designation under a new label. Early treatment could be very beneficial even if it isn't curative.
Gene therapies are also a thing that are picking up, so hopefully by the time symptoms do start (which could be in 20+ years) there may be something that could totally halt or possibly reverse any degeneration.
As for learning things like braille, I'm not sure if I'll be able to. I did want to learn it even before hearing about the possible diagnosis as a kid, but I've always been bad at learning second languages because of the way my brain is hooked up (radiation and chemo therapies as a kid probably didn't help much either).
Right now I'm just looking up different treatment options and ocular aids. On the positive technology is always advancing and new options are available each day.
Another plus is Stargardt treatment options are in the works with phase 2 and phase 3 trials ending this year. There was one med, Phospholine Iodide, that was discontinued by the manufacturer for the treatment of Stargardt's was recently approved by the FDA a few days ago as an Orphan Drug Designation under a new label. Early treatment could be very beneficial even if it isn't curative.
Gene therapies are also a thing that are picking up, so hopefully by the time symptoms do start (which could be in 20+ years) there may be something that could totally halt or possibly reverse any degeneration.
As for learning things like braille, I'm not sure if I'll be able to. I did want to learn it even before hearing about the possible diagnosis as a kid, but I've always been bad at learning second languages because of the way my brain is hooked up (radiation and chemo therapies as a kid probably didn't help much either).
DHamlinMusic 1 points 1y ago
I unfortunatly did not get a chance to prepare, lost my sight from injuries during a home invasion. I would have learned to use things like white cane, screen readers, how to cook/clean, and learned at least a basic grasp of braille before otherwise. Plus some of those things are useful even if you never need them for the most part.
vip-sizzles 1 points 1y ago
From research & my own experience, Stargardts is often a slow deterioration mostly affecting the central vision. After 30+ years, I still have some usable vision. I'm not able to read text any more but I can still move around mostly using my peripheral vision. I had a genetic test done about 10 years ago confirming the doctor's observation. It's definitely challenging but you learn to adjust. Sometimes you just have to let life unfold itself & believe it will eventually lead you in a positive direction. Best wishes to you.
Link2999 [OP] 1 points 1y ago
Have you tried any of the ocular headsets? Some of them specifically mention Stargardts disease. It doesn’t really make sense to me as they’re mostly meant for zooming in on things, but maybe they make use of the peripheral angles more?
Some testimonials mention being able to see details using them and doing things like reading menus and grocery store labels out of the house. I’ve seen photos and videos of people using them to read actual books, but I’m skeptical that they’ll do much good in that department at least for Stargardts.
Some testimonials mention being able to see details using them and doing things like reading menus and grocery store labels out of the house. I’ve seen photos and videos of people using them to read actual books, but I’m skeptical that they’ll do much good in that department at least for Stargardts.
vip-sizzles 1 points 1y ago
It all depends on the usable vision. For many years I used a CCTV & also had a portable handheld screen magnifier. However, they no longer provide the magnification that is needed for my current condition. I would say that those ocular headsets are most beneficial when magnification is still possible. I remember being given a monocular early during my vision loss & I was able to see in a greater detail. So those headsets can definitely enhance vision but it's 10-15 years too late for me.
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