#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.

[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.

[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

[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

[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.

[butch-reidentified]

Sotos Syndrome: An Educational Post on a Rare Genetic Disorder

Hey so, to follow up on the last reblog I added to this post about my wife: I realize most of you probably haven't heard of Sotos Syndrome, so I thought I'd talk a little about what it is and how it affects her. I'll put a couple of links here, but also briefly cover what it is and how she experiences it. She's given me permission to discuss it, and y'all are welcome to ask questions. If I can't answer them, I'll tag her in to help.

Note: She is also diagnosed with hEDS and POTS. This will be relevant later.

Sotos Syndrome is a rare condition resulting from a genetic mutation on chromosome 5 - specifically of the NSD1 gene. There are thought to be a wide variety of ways this gene mutation can occur and cause Sotos Syndrome, and the condition can manifest somewhat differently with different NSD1 mutations.

At the core of the disorder is rapid overgrowth in childhood; patients are taller and often heavier than their peers, and grow far faster. In some cases, this advanced growth timeline starts in the womb, and in other cases may start shortly after birth. Individuals with Sotos Syndrome typically have a larger cranial circumference than normal as well, though this often normalizes in adolescence or adulthood. The overgrowth almost always normalizes in adolescence or adulthood as well - patients usually reach a final height only slightly taller than would be expected of a healthy individual of the same sex and genetics. That is to say, the patient often ends up being on the tall end of normal, or a little taller, compared to other family members of the same sex.

Sotos Syndrome doesn't only cause rapid overgrowth; it affects bone development in several ways. Patients often have larger and heavier bones than average, large hands, and flat feet, as well as vertebral abnormalities (my wife suffers significant back pain due to several malformed vertebrae). Sotos Syndrome also almost always presents with specific facial features: a slight downward slant in the outer corners of the eyes, an enlarged forehead/brow bone, a pointed chin, a narrow face, thinner hair on the anterior (front) portion of the scalp, to name a few. These are usually most distinct when the patient is young, but typically some aspects are still noticeably present into adulthood (particularly the forehead and chin).

Children with Sotos Syndrome often experience developmental delays in a variety of areas, including speech/language, motor skills, social skills, and more. Some patients have intellectual disabilities, while others have normal intellectual and cognitive capabilities. Many have learning disorders such as ADHD, dyslexia, or dyscalculia. My wife has ADHD, dyslexia, and a communication issue (which we unfortunately don't have answers to from any doctor yet) that presents as fairly similar to aphasia. Some patients, especially as children, display "autistic-like behaviors" despite not actually having autism. My wife and I disagree on whether this is true of her (I, the actual autist of the relationship, think it is, but mildly). It can also cause anxiety (which she definitely has) and aggressive tendencies (which she couldn't possibly have less of).

Individuals with Sotos Syndrome often struggle with coordination and motor skills to varying degrees. Before knowing about her condition, I thought my wife was just the clumsiest person I'd ever met. As annoying as I'm sure that is for her, it also means that I often wind up with an accidental elbow to the face due to the combination of her lack of coordination and our size difference 🥲 Seizures and tremors are also a somewhat common problem. My wife has had a couple of seizures in the past, but typically only suffers from very occasional arm tremors. She also spontaneously loses her grip strength from time to time. I haven't seen this last one documented specifically as a symptom, but her neurologist says it's likely related. At least we have a good excuse to never own expensive glassware!

Another frequent symptom of Sotos Syndrome is joint laxity - an obvious overlap with EDS. I've been unable so far to find any documentation regarding the comorbidity of the two, but she has numerous EDS symptoms other than the joint issues, so our EDS specialist diagnosed it. She has hypotonia (reduced muscle tone) as well, a very common Sotos symptom. If she and a healthy woman lifted weights for the same amount of time, using the same regimen/diet/everything, she would see a fraction of the progress the other woman would. Her near-sightedness and mildly impaired hearing are also likely caused by this disorder, though EDS can impact hearing as well, and near-sightedness is not uncommon in general (and runs in her family, though strangely only in the women). Other possible symptoms include various tumors, acid reflux, and thickened skin, bone, and/or subcutaneous tissues.

I'm gonna wrap this up for now, though there are many more things I could dive into about this condition, but I may edit and add more later when I'm less exhausted. I hope this has been educational, and again, please feel free to ask me/us anything! 💓

[i-love-love]

I would love to get just. The most comprehensive medical work up of all time. Run every test it’s possible to run on every conceivable part/system/function of the human body. Full psych battery. I want to know e v e r y t h i n g going on in here. I wanna know which of these things are related. Wanna find out what secrets my meatsack is hiding. I just think it would be so cool to have a 100% complete picture of how my own body works yknow

[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

[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.

[bpod-bpod]

Essential for Life

Cytoskeleton protein ARPC5 is important for prenatal development and for function of the immune system after birth – inheritance of a faulty ARPC5L gene causes early-onset immunodeficiency

Read the published research paper here

Image from work by Elena Sindram, Andrés Caballero-Oteyza and Naoko Kogata, and colleagues

Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg Germany and Cellular Signalling and Cytoskeletal Function Laboratory, The Francis Crick Institute, London, UK

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

Published in Disease Models & Mechanisms, July 2023

You can also follow BPoD on Instagram, Twitter and Facebook

[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