Retinitis Pigmentosa

So I went to that doctor’s appointment, most of the process was very ok-ish. I was trying to get myself ready for as many barriers as I could think for yesterday.
Because it was Saturday, I did have to expend with an uber in my way there, because the bus would be too late and I wouldn’t be able to get to my appointment. Busses here are already horrible and on Saturday they make the fleet even more reduced… so I got the Uber there, and talking to the receptionist she checked where in that hospital would be my appointment, so it was across the street, it’s an ophthalmology hospital and had more than one address. Arriving on the other reception, it was a bit uncomfortable with that receptionist, she didn’t seem to be the most patient of people, and she told me where to go without considering that a. I never even went there and b. I am blind. But I told her I needed help and she asked one of the people going into the lift to help me.
The receptionist from the floor I would have my appointment was a sweet heart, she asked me how much I can see and then asked the nurses that would make the triage to help me, they did, they were amazing. And they helped me to the doctor’s office.
So the appointment itself was something that almost got me a nervous meltdown there, because he asked my reason to be there and I told him that my ophthalmologic history was very extensive and he asked me to summarise it, and here is where it got me into this happy-nervous state. After I gave most of my summary on my ophthalmologic history, he asked me “have anyone ever told you about retinitis pigmentosa?” and that was enough, I started semi laughing and venting to him that that’s what I also suspect to be, that no doctor really wanted to investigate and that I’ve been dismissed with the claim that “it would be seeable” even if I asked “what about Sine Pigmento?” which is a form of RP that doesn’t present with the traditional bone spicules, so it’s not really seeable.
The doctor examined me, got how much I can see, asked about peripheral and I said that I have no peripheral vision at all - which is another characteristic of RP that nobody cared to notice so far - and looked at my eyes through that annoying machine with a light, but didn’t dilate my pupils which is fine considering it was first appointment and I wasn’t there for a glasses prescription.

He told me he would refer me to the retina department, told me that it’s a delicate matter, so even if we get a diagnosis, the prognosis might not me good, to which I responded with “I don’t care about a cure or a treatment, the only thing I want is to have the peace of having a name and know what am I expecting to happen”, and he asked the nurse to see with the reception if it was possible to mark the appointment with that department.
I thanked him, and good news is that we already have a date for the retina appointment to august 4th, for those who don’t use or have an universal healthcare, getting fast appointments through the system usually takes a lot of time and bureaucracy, so just having an appointment date makes it like, turbo fast. And I finally am able to have at least some amount of hope that I can get a name for my condition, and be able to live my life knowing what to expect. Because I know I will go functionally blind, and that perhaps my only remain will be light and shadow, but I want to know how much to expect and how to recognise my symptoms. Again, I don’t care about a cure or a treatment, I already live my life as a legally blind person, and before getting legally blind, I was low vision, so I don’t know what a 20/20 vision looks like.
But I’m really glad I now have some hope.

Also there’s an irony behind all this, yesterday at night I discovered that one of the Sine Pigmento characteristics that can be used for diagnosis, is the thinning of the retina tissue, and all those doctors who told me they would be able to see even if it was sine pigmento, pointed out to me that my retina looks just like a high myopia case, it’s very thin and stretched. Which means… they have seen that detail all along and still decided to dismiss it. Great.

Yesterday, Monday May the 4th, I was chatting with a friend who has Retinitis Pigmentosa. Since it’s probably my condition too, still investigating that, we were talking about how RP is degenerative and he asked me “given the nature of our disease, are you ready to accept you’ll go blind” - remember I’m legally blind so there’s still a considerable amount of vision to lose - I told him there’s no way to be emotionally ready for blindness, that I can do my best to be prepared and technically speaking, I am pretty much ready to the nothingness creeping on top of my retina. But truly, I don’t know and don’t think I can figure out before it happens, the amount of emotional toll it will be for me, and sometimes I honestly try not to think about it.

I want to post something that’s light compared to the last one, and just to perhaps have some fun on this kinda internal joke I have. I say “I won the gene lottery” for the worst genes!
It’s not very sad to live with it for me, perhaps because I grew up in an environment so bad I had to learn to adapt fast, which makes me going blind not suffer so much though after 5 years actively dealing with constant spurts of vision loss, I finally feel some grief.
But really if I would list… disabilities? Well, ASD and blindness are together. Very likely to have won the ADHD gene too but I didn’t get to test yet because of money and because the overall test checks for ASD, ADHD and “being Gifted” and I’m already proven to have ASD and a “Gifted Brain” so I don’t want to pay a lot of money right now just to check if ADHD is here too. Now eyes? Congenital cataracts with retinal dystrophy followed by partial ophthalmoplegia, partial lagophthalmos, nocturnal lagophthalmos, light strabism and an amblyopic eye that never worked until some weeks ago and activated because my dominant eye got to the useless bar. Also was lucky to win the myopia and astigmatism genes but those are common in society. Then there’s the very specific genes from each of my parents… heart disease and hypertension weren’t on my bingo card until I actually got to a point where I apparently earned it from my dad. Then a very aggressive gastritis from my mum, and also coming from her… loose ligaments and double joint.
Aside from my effed mental health that is more mine than anyone else’s, I basically won the gene pool. I try laughing about it because if I’d cry for all of it I’d be even more miserable, but what most of that brings me isn’t the grief really, it’s a free ticket for being constantly annoyed and tired, always in fatigue and although my patience is almost endless, I do get frustrated and annoyed by having to go doctor after doctor trying to solve my issues, adjust medications, and overall, trying to find an ophthalmologist who actually will effing listen to me on testing for Retinitis Pigmentosa Sine Pigmento because I have all the symptoms, but nothing is visible on my retina, and that’s why this kind of RP I mentioned, is called “Sine Pigmento” (If you didn’t understand the term, it’s Latin for “without pigment”)

It’s such a weird concept for me when it comes to my condition.
I grew up low vision due congenital cataracts, even having made surgery at 3yo. My first experience in the visually impaired world wasn’t known for me. I never realised I saw so little compared to others, I never had something to take as reference so for me: it was just normal. I was just clumsy. It’s normal for people with myopia to have to wait the bus to be like 2 metres from you to signalise for it to stop. That’s how I grew up until an eye doctor tell me: “you must not lie and guess the letters. If you lie and guess them I won’t be able to properly diagnose, so if you can’t see them, just tell me.”
And that was my first time hearing the term “low vision”, at 18yo, the same year my retinal dystrophy decided to manifest, basically about 6 months before I became legally blind.

What makes it even weirder for me is taking years to know I have a retinal dystrophy, and to now be self aware to know the symptoms it displays. Not a self diagnostic but also not an opinion of a doctor but a guess I have.

My condition seems to be Retinitis Pigmentosa Sine Pigmento. A form of RP that’s really hard to catch because it doesn’t show itself as most forms of RP do.

And it’s a hard thing to grab because I didn’t know I was night blind until recently, I thought I couldn’t see at night because I have photophobia and the street lights and cars messed with my vision. I had to discover my night blindness in a very out of the box way. I knew I had tunnel vision but that’s one of the aspects that made realising the night blindness even harder.

For those with congenital aumarosis (100% blind by birth with no other condition in play), what they see, is absolutely nothing, and humans usually can’t grasp the idea of absolutely nothing. There are some tests you can do to have a partial idea of what it is, but it’s not black, it’s absolutely nothing. And for some reason, that’s a concept I understand. So when it comes to my tunnel vision there’s no blackness outside of my visual field, and I don’t have enough visual memory to even know if this lack of field of view was once lower, I have no idea what’s outside of my field of view, and it’s not blackness, it’s just nothing at all, and I even had to try to explain to blind people about nothingness because they acquired blindness and they see full black or full white, or just gray.

So I never even noticed the night blindness, because it portrays as street lights and vehicles headlights, and just a deep darkness that makes everything basically black, and I just didn’t understand that besides the lights, the blackness meant I couldn’t see. Until the day I went into a darker place with sunglasses and I couldn’t see, then it came, late again, but came, what night blindness looks like.

So basically: tunnel vision, check; night blindness, check; getting darker becomes something similar to static on a tv, check. I will go for a diagnosis to know if it’s RP or if it’s another retinal dystrophy that has similar symptoms, I plan on going after it this year, I just need to have some time to breathe since I haven’t stopped since September and I’m basically burned out.

Have you ever expressed you’re a level 2 support autistic person and people would invalidate you because “you came to this appointment by yourself”?

People think of autistic people as two sides of a coin, like it’s black and white, but the “scientific” name already says ‘spectrum’. And that spectrum isn’t only on some classic functional tasks, not only that, but autism usually comes with other comorbidities, like me who has a personality disorder, probably undiagnosed ADHD, and many body structural differences that might be related, such as dispraxia. And my luck is just right for me to also be born with congenital cataracts, an eye disease that also loves to come with something else, such as glaucoma (not my case) or in my case, retinal dystrophy, that might be retinitis pigmentosa, I still don’t know which type of dystrophy I have.

So even trying to put autism into three categories, you still have a whole spectrum on each, the only way I see that makes this classification possible is the wording:
1. Support Needs
2. Substantial Support Needs
3, Constant Substantial Support Needs

This wording makes it vague enough to make a classification possible, and due to people viewing autism as black and white, the support needs level 2 ends up being the one people often forget, invalidate and misunderstand.

I’m a type of person who’ve been through forced independence, I started catching busses by myself at 10 when I started going to school by bus after having gone through very aggressive bullying on the school van that would get me to school. Autism wasn’t so spoken about, much less autism on females assigned people, so I had to learn a lot of social cues, communication, non-verbal communication skills (tho I’m still terrible at them), social norms, expressiveness and knowing how to pick my words when talking. It’s exhausting, I suffer from autistic burnout for years, and one of the causes is the constant task of knowing how to articulate my needs, or bend myself to be flexible, despite having cognitive rigidity, because others wouldn’t do it, even being neurotypicals. So at first glance people can’t realise I’m on the level 2 category, because my adapting skills are very sharp and I adapt fast to new situations. That’s why I pointed this to blindness, because I got blind, and I adapted. I had no one to teach me how to use a cane so I taught myself. I’m still waiting for the daily activities rehab part from the blind foundation but I just can’t stop my life to sit and wait. I want to learn how to make my own make up, and I basically started making my own make up already, I need to learn the techniques for that, but while I wait, I just do my best to be able to do something.

I might not show so much support needs on socialising, learning communication skills and articulation, because I adapted. But if I get to a meltdown, there’s nothing that will make myself snap out of it, I need intervention from people to help me and avoid that I put myself at risk. Usually after a meltdown I have a shutdown too, so I just fall asleep without much control over it.
To catch the tube by myself I need to listen to music so I keep calm, and nowadays there’s a musical I listen to absolutely every time I need to go out, that helps me self regulate. I stim a lot and often get censored by people close to me, and I have to remind them that I need to make constant and repetitive movements when I’m overwhelmed. But this is not where it ends.
When it comes to my body, I don’t know when I need to pee unless I’m urgently needing it, so UTIs are basically my daily companions. I can’t feel satisfied after eating, so sometimes I need someone to give me a hint that I’m not eating in a healthy way. I don’t like most of the stuff that can make you gain weight but I’m obese because other factors. I have insanely high tolerance to pain, I might break a bone, and it happened before, and not know it, because well it might hurt but it’s too little to actually give me some concern. At the same time I am extremely sensible to my internal organs, so I know EXACTLY where I feel what I feel. If I feel chest pain I won’t jump to conclusions that I might be having a heart attack because I know if it’s a pain on the boobs, the lungs, the heart, the esophagus, etc. it even got me confused lately because I’m feeling a pain on a place I don’t know which organ could even be there to ache, other than my intestines, but the pain doesn’t give the vibe of intestinal cramps. So all that already show how much substantial support I need just for functioning a bit. But I also need support when it comes to daily tasks.

I hashed depression in here too because of this. Me getting depressed makes me not take care of my house and myself, and I do have very severe depression, that can be very crippling sometimes. And also have to deal with PDA. So trying to humiliate me, or repeat many times to me that my house needs cleaning actually makes me not clean it. My mum had to find the right words and empathy to make me start reacting and taking care of myself and everything. But I still need this support. Sometimes if I try giving myself rules, I don’t really follow them, I just feel frustrated when I do something out of the pattern I usually follow and then the repercussion is that I don’t know where I left something. And this is why I hashed blindness too. Because being blind means I have to be even more strict with organising routines so I know where everything is, and can find it later. But without clear instructions of what I have to do… I just don’t know how to. Yes I adapt, yes I try my best, yes I do without waiting, but I’m still not able to find directions without someone to direct me. It might sound silly, but my support needs actually makes me need direction from a third person. So I want so bad to get to the daily activities habilitation so I can learn how to organise stuff properly.

This is a bit frustrating for me to express, because I don’t want to use my depression, autism or blindness as crutches to justify a messy house. But I know that I need someone to direct me on some tasks, or I just can’t do it myself. And I wish people could understand how that is a need, and not me talking BS. Even if it’s not a classic need from a person with substantial support needs, it still is my need, just like there are people with ASD that can’t cross a street by themselves. It’s a need, and instead of invalidation and ableism, the world would be better if only everyone’s needs would be respected.

What Is Usher Syndrome?
Usher Syndrome is a genetic disorder that causes progressive hearing loss, vision loss or retinitis pigmentosa. Not to mention balance problems. Last but not least, even though there is no cure available, there are treatments available that focus on managing symptoms through hearing aids and cochlear implants, vision aids, rehabilitation, and early intervention, while research explores gene therapies and drugs to slow degeneration.

When I was 18 years old, I started to lose by vision. As an athlete, the signs, at first, were small – missed passes from my teammates on the basketball court. Losing a fly ball in the air at my baseball games. Not following my golf ball’s trajectory on the course. I went to see a doctor thinking that it was something perhaps with my brain and was shocked to eventually learn I had Retinitis pigmentosa (RP) – a rare, degenerative eye disease that makes cells in the eye breakdown over time – eventually causing vision loss. I have one of the most severe cases of RP that one can have – and by age 30 I was completely blind.

For years, as I worked through a range of emotions, I always knew one thing - I was determined to not let RP define who I am or what success I find in my life. Up until the point of my diagnosis, I had planned on being a doctor – and while that course was, and remains, unavailable, higher education and career fulfillment is absolutely not. Through a lot of tenacity, problem-solving, failure and entrepreneurship, two years ago I found myself starting a new job at NSITE just outside Washington, DC. Here, I have found my deepest purpose – helping blind and low vision individuals find jobs, while also helping companies and products make their tools more accessible to everyone. In my spare time – I’m entering my fourth year as a goalie for the U.S. National Blind Hockey Team because being blind has never dimmed my love of sports!

The journey to this role and this life was not a straight line. I hope as part of this community I can share a bit about my path in the hopes it shows other blind and low vision individuals how they can find fulfilling personal and professional lives, even in the wake of the unexpected.

I’m always happy to talk to anyone who has lost vision at any stage of life, to help them understand what steps they can take to come to terms with their diagnosis, and when ready, start to think about what is next.

I look forward to learning more from you all, too.

#Blindness #RP #Blind

#VisionLoss