Oculocutaneous Albinism Puns

There was a LOT of stuff that led up to this conclusion but, long story short, I have done a tremendous amount of research, personal testing and record taking, discussion and I have appointments set with a dermatologist and an ophthalmologist.

I believe I have just ignored this for my life by avoiding the outdoors frequently and, once I became an adult, began drinking as it nulled the sensitivity of my skin frying to a crisp when outside or under intense uv.

Symptoms include: sensitivity to uv light, I must wear polarized, 100% uv sunglasses at all times even indoors, the sun burns my skin practically instantaneously (at least I can sense it roasting and redness is very apparent) and any part of my body that isn't covered with sunscreen or uv protective is very tender and sore and feels sunburnt.

I've never been so confused in my life. I'm not in denial but I'm just unsure of how to live my life appropriately so that I am protected and safe as well as not in pain. Any advice would be highly appreciated.

I know there's a few posts out there on Reddit of a similar topic. I thought I'd give my perspective on the subject through the eyes of a female minor.

I'm a junior in high school in Southern California. I'm in band and honors/ AP classes. I'm roughly 1/5 Native American, 1/2 Mexican, and 3/10 European. I have really really crappy vision, horrendous light sensitivity, and school accommodations.

Ask me anything.

a few pictures of me

younger me

To avoid skin cancer and such as well as Burns. Preferably something not too oily and something that is waterproof.

I often find it said that chronic pain is a "rare" complication of vasectomy. Usually there is no clarification about what this means in terms of hard numbers.

Occasionally I will encounter this sort of statement:

"Chronic pain is a possible complication of vasectomy, but it is rare -- about 1-2%"

This is an interesting construction, because the word "rare" is redundant here. We have the actual numbers, so what work is the word "rare" doing in the sentence?

In my opinion, the word "rare" is included for persuasive effect here. Much of our communication works this way; purely "objective" descriptions of reality are not the normal way we talk. Usually our language is rich with words that help guide us about how to feel and what to do.

How are the words "rare" and "common" normally used in the context of medicine?

Generally, when we speak of a "rare" situation in medicine, it is one with a frequency of 1:1000 or less.

Example 1:

The World Health Organization provides definitions for using these words when discussing medical side effects:

• Very Common = Greater than 10%
• Common = 1% to 10%
• Uncommon = 0.1% to 1%
• Rare = 0.01% to 0.1%
• Very Rare = Less than 0.01%

(Link 1) (Link 2)

Example 2:

Here is a list of "rare" birth defects:

https://www.marchofdimes.org/baby/rare-birth-defects.aspx

Incidence of these defects are 1:1000 or less:

I apologize for the formatting, I'm on my phone.

My daughter (16F) is legally blind, and has Oculocutaneous albinism, affecting her skin, eyes, and hair. I doubt make-a-wish program would do anything for her, but is there a program like make-a-wish for children with disabilities?

TRIGGER WARNING: bullying, assault, suicide, chronic pain

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There are so many times I read posts or comments about how people don’t understand how a person can be proud of a medical condition or even just accept it. I view gender dysphoria as a medical condition as well and I understand the pain those statements come from...but at the same time, it hurts me.

I was born with oculocutaneous albinism type 1B and a TGFBR1 mutation associated with Loeys-Dietz Syndrome type 1. I also have a genetic mutation that caused me to have a congenital cataract. I developed an autoimmune disease called Juvenile Idiopathic Arthritis when I was 9 years old. I am also multiply neurodivergent.

Growing up, I looked different from all of my classmates. I was very pale and had corn yellow hair. I also couldn’t see shit, acted strangely, couldn’t write well, fell all the time etc. I was relentlessly bullied and was even stabbed by a classmate with scissors in second grade.

I first expressed suicidal ideation when I was 10. I changed school districts when I was 14.

As an adult, I started having more and more fainting spells, trouble walking, digestive problems and injuries from doing the most menial tasks. I eventually wound up needing mobility aids, a feeding tube and a central IV line. I was in so much physical pain at times, I considered suicide.

I am not ashamed anymore that I look different or function differently. It took a lot of therapy, self acceptance and yes...sometimes pride. Sometimes I really hate it and wish I didn’t have the conditions I do...but there is nothing I can do about that except get the best treatment I have access to.

So when I see other trans people hate on others for taking scholarships for being trans, being open about being trans, or being proud of the obstacles they’ve overcome for being trans...I hurt for them. I hurt for me, too. I just hurt.

Hi! My name is Rebecca and I am a mod for this sub! I have had oculocutaneous albinism, astigmatism and nystagmus my entire life and as such have never seen the world with anything but low vision! I was never given classes for the visually impaired or O&M training and have learned almost everything I know on my own - which has been good and bad. It has taught me quite a bit of resilience, but I also know I could have gone further faster, had I had more organized help.

Regardless, I studied biomedical engineering at Bucknell University and graduated with my BS during the pandemic! Now, I am a master's student at Johns Hopkins working on the commercialization of medical devices and technologies for global health. The main project I am responsible for has to do with preventing and surveilling for malaria carrying mosquitos in countries in sub-Saharan Africa - a place I am excited to have the opportunity to travel to soon!

In addition to that, I am the sole founder of ReBokeh, a health tech startup working to develop more comprehensive assistive technologies, specifically for low vision individuals. As I'm sure many of you know, most assistive technologies are geared toward the blind and therefore don't have the right functionality for people with more moderate visually impairments. That's where ReBokeh comes in!

As a person with low vision I have always felt left out of the discussion - among those who are blind, and of those who have normal vision - and so I am working to bring more attention to low vision as a category of disability that requires unique accommodation. So often it's hard to tell when someone has low vision, because no one can see the things we are struggling with behind the scenes. We almost find ourselves a forgotten disability - because no matter what life throws at us, we make it look easy.

What do you think? Should low vision be a more distinct category?

View Poll

Hi,

I have a visual impairment that, according to my research, is an X-linked recessive trait. My brother also has it. One of my sisters also has it. My parents don't. And this is what confuses me. If it's X-linked recessive, doesn't that mean that my sister can only have it if she got the allele from both parents? In that case, my dad would also have to have the allele. And without a dominant normal allele to supercede it, my dad should also have the visual impairment as well. But he doesn't. I'm wondering if you guys can help direct me to some reading or explanation as to why that is.

From genetics coursees I took in undergrad, I can think of two possible explanations. Though I'll admit, my genetics is a bit rusty, so I could be way off here

1. I remember there was this thing called X-inactaivation in females. Could it be that the X-chromosome my sister got from my mother (presumably the defective one) is activated in my sister's eyes, while my dad's X chromosomes isn't active in her eyes?
2. Could it be that my dad did have the defective X-chromosome, but he had another mutation that silenced that one? And he only passed on the defective X-chromosome, withtout the second mutation to save it?

Is there another explanation?

Also, would I be able to find the answers to this kind of question using 23andMe? I'm a bioinformatician, so I'm capable of analyzing the data. I'm just not sure what kind of into I'd get from them.

Do your worst!

Genuine question.

Anki has helped me retain ALOT of stuff so far into my preps but the modes absolutely elude me to this day. I only remember a handful, and especially if u throw multiple into the mix such as the various immunodeficiencies I can't wrap my head around it. Another one is the ocular albinism and oculocutaneous albinism.

Any help would be appreciated because it's frustrating to not be able to remember them.

It really does, I swear!

For context I'm a Refuse Driver (Garbage man) & today I was on food waste. After I'd tipped I was checking the wagon for any defects when I spotted a lone pea balanced on the lifts.

I said "hey look, an escaPEA"

No one near me but it didn't half make me laugh for a good hour or so!

Edit: I can't believe how much this has blown up. Thank you everyone I've had a blast reading through the replies 😂

They’re on standbi

Buenosdillas

Pilot on me!!

Dad jokes are supposed to be jokes you can tell a kid and they will understand it and find it funny.

This sub is mostly just NSFW puns now.

If it needs a NSFW tag it's not a dad joke. There should just be a NSFW puns subreddit for that.

Edit* I'm not replying any longer and turning off notifications but to all those that say "no one cares", there sure are a lot of you arguing about it. Maybe I'm wrong but you people don't need to be rude about it. If you really don't care, don't comment.

What did 0 say to 8 ?

" Nice Belt "

So What did 3 say to 8 ?

" Hey, you two stop making out "

When I got home, they were still there.

I won't be doing that today!

Reddit

Sorry for making it long and disorganized. I just want to get my thoughts out there. I know post this to Reddit is dumb but I need help or someone with the same experience on how they dealt or dealing with the situation. Because I'm on the verge of ending it. I have told this to a couple of close friends and they are really helpful but it feels like it's not enough. I was born with a disorder called oculocutaneous albinism, "Individuals affected by oculocutaneous albinism have very light skin and light-colored irises; they may also have vision problems such as decreased sharpness of vision, rapid eye movements ( nystagmus ), crossed eyes (strabismus), or increased sensitivity to light (photophobia)." (By Google). And this disorder is making it harder to live. It feels like, and as I'm an adult, life is so much harder. And on top of all that, I'm not trying to diagnose myself (I don't want to be diagnosed), I believe I have mental issues. Like ADHD, social anxiety, OCD and dyslexia. For example, it took some time to write this but you can probably find a lot of grammatical errors. I want to know what to do. I'm holding out hope but it feels like I'm slowly losing that. I have a fucked up body, with that, will I ever be happy or find someone to be with? It feels like my emotions change between happy and sad every few days or so, sometimes longer, sometimes shorter. I realized how bad my emotions got when I was watching a romantic comedy, awhile back. I know this is kinda weird but I had a panic attack during one episode. I kept thinking I could never be this happy. Couldn't breathe for two minutes, called my friends afterwards to calm me down. And, I don't really wanna die, I just don't see any other option of moving forward. So, how do I accept, if possible, myself, my body and who I am? And, how do I improve my confidence? I just wanna be happy but sometimes that's just such a hard task. This is the first time I post something so personal, so please, any useful help is greatly appreciated.

Thank you again for reading this.

You take away their little brooms

This morning, my 4 year old daughter.

Daughter: I'm hungry

Me: nerves building, smile widening

Me: Hi hungry, I'm dad.

She had no idea what was going on but I finally did it.

Thank you all for listening.

There hasn't been a post all year!

It’s pronounced “Noel.”

Why

After all his first name is No-vac

What, then, is Chinese rap?

Edit:

Notable mentions from the comments:

• Spanish/Swedish/Swiss/Serbian hits

• French/Finnish art

• Country/Canadian rap

• Chinese/Country/Canadian rock

• Turkish/Tunisian/Taiwanese rap