#genetic diseases and disorders

[swagging-back-to]

it is not controversial to say that if you cannot finacially, emotionally provide for a child and/or your genetics would lead to them suffering then you should not have said child.

[navysealt4t]

i cant believe it took my sixteen years to realized my celiac disease made me disabled. like dude. it's a genetic autoimmune disease. it prevents me from doing countless things daily. it makes life harder as it's much harder to find safe and trusted gluten free food. it puts me in excruciating pain if I ignore it (and potentially fatal/debilitating if I ignore it for a long time.) like hello

[andr3yvishn3vsky]

To be honest, after years of searching, trying to find my diagnosis, I just... Stopped caring about this. I even started to like this thing, I know, it harms me, but do I want to treat it? No. It's a part of me, that I like.

[bpod-bpod]

Blindness Insight

A study in the model organism the African clawed frog (Xenopus laevis) reveals the details of mechanisms underlying the human inherited retinal degenerative disease Leber congenital amaurosis.

Read the published research article here

Image from work by Theresa Fresquez and colleagues

Department of Ophthalmology and Visual Sciences, University of New Mexico, Albuquerque, NM, USA

Image contributed by the authors under a Creative Commons Attribution 4.0 International (CC BY 4.0) licence

Published in Journal of Cell Science, January 2025

You can also follow BPoD on Instagram, Twitter, Facebook and Bluesky

[tombraiderrocker]

I made a very niche meme to help me cope

[neurodivergentbraingoblins]

Growing up I was told I was "unique", "one of a kind", "different", etc.

Then I learned that the traits I have are experienced by millions of people and have names! ADHD, Autism, OCD, seizures, hypotonia, dysautonomia, etc.

Then I was diagnosed with a rare genetic disorder. I was so happy because it meant I finally found "my people" only to discover that I am nothing like all the other people with my genetic disease.

I went right back to being "one of a kind" and "rare within rare". I finally got answers just to discover that the labels we so desperately crave don't actually answer anything.

My advice to people - stop putting so much importance on labels. Labels don't mean anything. The symptoms you experience are what matter. Symptoms can overlap and be identical between different disorders that are nothing a like. But when we hold labels above symptoms we will always exclude people who truly experience the same things as us.

And yes, I'm aware that this may seem like it contradicts my statement that self diagnosing yourself with my genetic disorder is rude. However, it doesn't. A genetic disorder is a mutation of a very specific gene on a very specific chromosome that is specific to each individual person. Just like a heart defect is a very specific condition that only exists in people who don't have a healthy heart.

My genetic disorder doesn't have a label. It is too rare to have a label. So instead, we focus on the symptoms because the symptoms are the only thing that can be controlled.

[schizononagesimus]

one of the downsides to having been diagnosed with my genetic disorder at a young age is that, despite going to the doctor pretty much constantly up until two years ago (which... was inadvisable), i often find new things out about the disorder because i don't actually have much a clue what it does to me because i was a literal child when i found out about it. like i know the big symptoms and satellite issues it causes but some of them i either forgot to time or just never knew. some of the stuff i just kinda assumed was caused by my illness because it made sense with how it operates since im aware of what it does biologically. but i assumed i was tired all the time because i'm in pain all the time, but apparently we literally just have chronic fatigue syndrome in addition. umbilical hernias. bowel tearing (GUESS WHAT HAPPENED TO ME EVERYBODY. WE KNOW WHAT'S WRONG!!). fragile eyes. teeth abnormalities. etc etc etc. im like. OH THAT'S WHY THIS IS HAPPENING? THE THING THAT'S WRONG WITH ME? FOR FUCK'S SAKE.

[crippled-punk-guy]

Happy rare disease awareness day!

Today I would like to raise awareness for myself and other people who have a rare disease or health concern that hasn’t been officially identified.

There’s a very long and convoluted way my doctor decided to word this because my insurance refuses to allow me genetic testing to confirm, but in laymen’s terms I have a clinical diagnosis of classical like Ehlers Danlos Syndrome.

Classical like or type 2 EDS behaves very similarly to hypermobile or type 3, with a couple extra symptoms and a few different manifestations.

Type 2 is caused by having duel mutations of the tenascin X gene, and some doctors believe type 3 may be caused by having only one of those genes mutated.

Because of the requirement of having both mutations this sub type is markedly much rarer than a couple of the others, estimated at roughly 1/1,000,000. It’s very difficult for people who have the symptoms of this type to be taken seriously as most doctors just think it’s a more severe version of type 3.

Classical Like Ehlers Danlos is a distinct type because of fat tissue and distal joint involvement.

Most people who have type 2 have bracydactyly, a deformity of the distal (small finger and toe) joints. Bracydactyly means that my fingers appear shorter than usual, the joints in them are deformed and does not allow for a full range of motion, for me personally mostly my thumbs are affected. I am missing nearly half of my thumb joint that connects to my hand, and my pinky toes are missing a joint entirely. This makes it so that any time I try to hold something my thumbs are essentially forced out of their natural position and have to partially dislocate. I can not use standard forearm crutches anymore because of this and have had to switch to platform to preserve my hand function. I also sometimes wear thumb braces if it gets to that point.

When talking about fat and tissue involvement we must touch on subcutaneous spheroids. Many people with EDS have something called piezogenic papules of the heel, small white lumps that become visible when putting pressure on the heel. Imagine having that but in your entire body. In EDS2 patients the following process occurs:

1. Our bodies already struggle to pump blood to the very small areas of our body, this includes the very small veins that run through the layers of fat.

2. When the blood supply gets cut off to these areas the EDS2 body responds by calcifying the fat that is no longer receiving blood flow.

3. This causes the formation of subcutaneous spheroids, very hard lumps that are partically anchored down but have some movement.

I’m sure you can imagine this is extremely painful, especially when they form in areas such as the crotch or armpit. There is nothing to be done other than gently massaging them until they pop in the least painful way possible. If you allow them to build up you will have what happened to me a couple years ago which led to realizing I have EDS, my entire calves were rock hard with nodules that a physical therapist had to work out over the course of four months. They can and will merge to make a larger one, locking in nerve endings. And no, losing weight isn’t necessarily the solution because if the fat around them gives away they will pop even more dramatically (at least for me personally). The only thing I have found that helps is prevention, massaging the areas they typically form in and using a tens unit if one has already formed. Placing the electrode directly on top of it and very slowly increasing the intensity is the only way for me to get rid of them without extreme pain. Also, they can pop randomly on their own. This is very jarring and extremely painful. And is one of the explanations as to why I randomly bruise.

There are many other ways EDS affects my life, but I would like to take some time to acknowledge health issues that are not identified.

I have a leg deformity. No diagnosis, no known cause. It just happened. When I was very little a doctor noticed it and said it was nothing to worry about, that I would grow out of it.

Well it turns out that is in fact not how any of that works. As a child I had such a minor deformity that it may have been able to be fully corrected if I was given leg braces, but doctors don’t want to admit you need something like that until it’s too late.

When I was around 15 I saw a rheumatologist who explained to me exactly why my legs look the way they do and what internally is happening that is actively preventing it from ever being fixed now. My hips either were what caused it or have now formed in a way that my legs will always be in this position, slightly out turned at the hip joint and again at the knee, causing my legs to appear splayed when relaxed. Also, one leg is longer than the other. The longer one has about 2 inches on the other, so it ended up supporting what the other could not. Because of this I am simultaneously pigeon toed and slightly bow legged, so one leg points in and the other out. Adding on that EDS makes your joints more loose, the doctor told me it seemed like they were both just making each other worse and she recommended I just try to not walk when possible.

No one really knows if the deformity is separate or because of EDS, but either way I live with both. I live with the knowledge that 1. I may never get genetic testing to figure out if it is actually type 2, most doctors don’t care enough to learn about anything other than type 3 if they know anything at all. And 2. I may never get to know if my legs could���ve been made better, I still have enough walking ability to get by but there’s also nothing saying it won’t get worse. We don’t know. And I’ve seen enough doctors to tell you they don’t care about knowing. My primary is amazing, but every specialist she tries to send me off to just gives me the run around and is like “well you *can* walk *some* so clearly it’s fine” instead of acknowledging that it is in fact not at all fine actually and I would appreciate being helped if there’s any to be had.

This is long and proofread slightly but I may have missed something grammatically or spelling wise.

Disclaimer: this is not at all an exhaustive list of either EDS2 or my deformities and how they affect my life. There are many more symptoms to both I either did not mention or do not feel comfortable mentioning. If you believe you may have any of the Ehlers Danlos types please seek out a doctor who is knowledgeable in that area.

This rare disease day, I want to remember and acknowledge those of us who never got our answers, and those of us who answers do not exist for.

There are 13 identified types of EDS, possibly a 14th. The most common (type 3) is estimated to effect 1/300. The rarest type (type 14) is known to effect 4 people in the entire world.

There are people who don’t even have a hashtag to post under, there are disorders and conditions that have only 1 known person effected ever.

How do you live your life with such a debilitating condition without even getting to know what it’s actually called? And why is it considered acceptable for the medical community to just push us aside instead of looking for the answer?

My EDS was identified as almost for sure being type 2 by a physical therapist who specializes in hyper mobile disorders. And yet I am still diagnosed with “hypermobility spectrum disorder with musculoskeletal involvement” which is a real fancy way of saying hypermobile EDS (I will explain why this language is used in a later post today or tomorrow).

When you change the language you use you change the meaning, and when talking about someone’s health knowing what is going on in your own body is very important. Imagine if you were diagnosed with something but they told you they’re going to call it something very different just because it’s easier. That is life for many many chronically ill people. A doctor can directly tell you it’s one thing and then put something completely different in your chart just because doctors and insurance are not on our side in most cases.

This rare disease day, remember the diseases and disorders that are literally written out of your history because it’s easier than having to admit what’s actually going on.

Leave an offering today to Hephaestus.

[thedisabilitybookarchive]

'Nothing Without Us'- Gordon, Cait. Johnson, Talia C.

Disability Rep: Multiple; Arthritis, Rheumatoid Arthritis, Deaf, Sign Language, Genetic Disease, Cane User, Mental Illness, Seizures, Multiple Sclerosis, Neurological Impairment, Bipolar, Spinal Injury, Chronic Pain, Walking/Mobility Impairment, Chemical Sensitivity, Neurodivergence, Physical Disability, Multiple Personality Disorder, Amputee

Genre: Multi-Genre; Speculative, Apocalyptic, Fantasy, Science-Fiction, Realistic, Contemporary, Horror,

Age: Young Adult, New Adult, Adult

Setting: Multiple- Possibly Canada

Additional Rep: Queer, Non-Binary, Neo-Pronouns, TBD

For more information on summaries, content warnings and additional tropes, see here:

[morbiditty]

Support the artists and buy on your platform of choice

Lyrics:

Burn me out like cuts Fade out when Centralia does Nostrils offa dust Or like veins too many needles touch

If pain is beauty, im a pretty bitch Got too quiet now they're whispering

If you blink then you might miss it Every hour is a week I dont need sympathetics I just need some room to breathe Do not fucking talk to me My genetics got me tweaked Running from myself I cant blame em' when they leave

Time, slips A, way Burn, out Dont, fade Dance, on, my, grave

I will never be them I will never be them I will never be them I will never be them I will never be them

My mind is a mosh pit Think i might've lost it Starting to believe there's only one way i can stop this

If pain is beauty, im a guillotine You bring the match, ill bring the kerosene

Let the gabapentin set in, suffocate me in my sleep Adderall to wake up, omeprazole to eat Do not fucking look at me, paranoia got me peeved They say they want to help, but they always fucking leave

Leave me by myself Leave me DND Leave me in the dark Leave me with these things

Tell me that you love me, i know all your talk is cheap Baby, im a code mistake, i was never meant to be

(CORPSE)

Time, slips A, way Burn, out Dont, fade Dance, on, my, grave (burn out)

I will never be them (I will never be them) I will never be them (I will never be them) I will never be them (I will never be them) I will never be them (I will never be them) I will never be them

I will never be them

I will always be a Code mistake

[exhaustedevan]

Septo-Optic Dysplasia Awareness

Septo-Optic Dysplasia (SOD) is a rare genetic disorder where parts of the brain do not develop correctly. This can include the septum pellucidum, the wall that separates the two halves of your brain, the thyroid gland and the optic nerves. For that reason people with SOD are often visually impaired. Blindness is a spectrum and that's especially true for blindness caused by SOD, it varies from mild vision impairments to complete blindness. This condition appears in about 1 of 10'000 births and is usually diagnosed in early childhood.

If you have a child with SOD, there are support groups available. For example, the MAGIC foundation offers a closed facebook support group for parents and so does ONH Awareness. However it is super rare to find adults and people who were diagnosed as adults, in fact I have never met someone like me. This is why I'm making this post, I would LOVE to connect with adult people who have SOD or ONH because most support is geared towards parents of children. I would especially like to connect with you if, just like me, you were diagnosed as an adult.

If anyone has questions related to SOD feel free to contact me!

[ayakashibackstreet]

I can't believe I got cursed and I have to pay over 100PLN to get the curse lifted smh

[aartichede08]

Rare Diseases Treatment Market research report provides comprehensive information on the market. It also includes in-depth information about Market #Drivers, Opportunities, Market Restraints, Market Growth #Challenges and Cumulative #Growth Analysis. Moreover, the report also provides an in-depth analysis of the Rare Diseases Treatment Market by identifying key players. The report also examines the #competitive landscape of the Rare Diseases Treatment Market industry and analyses its impact on the growth of this market over the next few years. The segmental analysis focuses on revenue and forecast for the period 2019-2029.

Request PDF Sample Copy of Report @ https://www.axiommrc.com/request-for-sample/11524-rare-diseases-treatment-market-report

[bpod-bpod]

Taf1 Made Easier

Knocking out a gene called Taf1 in mice is lethal for males at early embryo stage while females with one knocked out copy of the gene show weight gain and impaired movement – insight and a new tool for investigating the disorders caused by TAF1 mutation in humans

Read the published research article here

Image from work by Elisa M. Crombie and Andrea J. Korecki, and colleagues

Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, London, UK; Centre for Molecular Medicine and Therapeutics at BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada

Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)

Published in Disease Models & Mechanisms, July 2024

You can also follow BPoD on Instagram, Twitter and Facebook

[biologicalalchemist]

"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia" (XMEN) disease 

It's a real thing y'all! Unfortunately it doesn't give superpowers, only death :(

[neurodivergentbraingoblins]

When I received my diagnosis of my genetic neurodevelopmental disorder, I joined the Facebook group specifically for my disorder. That is where I discovered that (including me) only 71 people had been identified with my specific disorder.

I learned I was the oldest known person with my disorder.

I learned that I was the only truly "verbal" person with my disorder.

Everyone else is either entirely mute or semi-verbal due to severe intellectual disability.

I was called a "miracle" because I can speak. I was told I "give huge amounts of hope" that the other children may some day be able to speak like me. This "praise" made me want to cry in anger and frustration.

Why? Because I was just like their kids as a child. I only spoke situationally when I felt safe. But my mom didn't like that. When I couldn't articulate a response she would close-fist punch me in the head. This continued until I could verbally speak what she wanted to hear.

I AM NOT A MIRACLE. I am an adult survivor of child abuse who adapted to survive. But now, because I can speak as an adult, I'm not *really* a situational mute. I don't *really* struggle with speaking. According to all the people who still can't speak, I am not one of them.

I was forced to find my voice, just for it to be used against me in the most hurtful ways. So please stop shaming people for whether they can or can't talk. Please stop including or excluding people just because *you* don't think they belong. If you don't know their story, *you* don't get the right to decide.