#Genetic Disorders

[neurodivergentbraingoblins]

This post is a shout out to all my chronically ill friends ❤️

"If you are in that much pain just go to the emergency room" 🤣🤣🤣 no, just no. The ER does not do what most people think it does. It exists for people who need to be stitched up or suddenly broke a bone. They do NOTHING for pain management and actually will verbally harass patients for going in and wasting their time. I know. I've been one of those patients harassed by the people who are supposed to help me.

"They gave you a referral to a specialist right? Are they going to see you next week then?" - it took 3 months for me to get an appointment with Neurology after getting the referral. Genetics took 2 months, cardiology was a month, and I'm still waiting to hear back from St. Louis about seeing a neurologist there (that referral was put in on August 9th). It takes months to get in to see these doctors, then they spend about 5 minutes (10 if you're lucky!) talking OVER you. Every visit is a fight against the doctors ego to see if you will actually get help this time.

"Maybe you should go to Mayo Clinic or some other place out of state!" - cool, who is going to take me? Who is going to take a few weeks out of their own life to drive me there and stay with me while the doctors do their thing? I can't see so I can't drive myself. I haven't worked since July because of being sick, so I can't afford a ride or place to stay.

"Can't you go a couple days without medication? I know the pharmacy ran out, but it really can't be that big of a deal right?" - I don't even know how to respond to this one. Seriously? The doctor put me on the meds for a reason. Most of them have serious and dangerous side effects when you go through withdrawal. Also depending on how long I'm without them, I have to start back at a lower dose and work back up to the dose I was originally on. Which means TWO prescriptions that I now have to pay for.

"Do you really need to bring your walker/cane with? It's annoying to try and get it in and out of the vehicle. Plus it just slows us down" - do you really need your legs with? It's annoying having to wait for you to put your shoes on. Plus when you wear those specific shoes you walk weird. If you can't stand someone using a mobility aid to help them get around then go find a new group of friends to do things with. I have just as much of a right to be able to go out and enjoy things as anyone else.

There are plenty more things I could add to this post but I'm exhausted.

[tombraiderrocker]

I made a very niche meme to help me cope

[omegaversetheory]

Assuming that the A/B/O labels are based in genetics, I Wonder if you have any headcannons for genetic disorders?

In my AU, I like to imagine that some people usually believe that persons who have an "extra alpha chromosome" or an "extra omega chromosome" are blessed because they would be like "super alphas" or "super omegas" due their increased capacities when it comes to strenght, size, fertilitie...when in reality they are only partially true.

Sure, those "super alphas and omegas" are more "powerful" when it comes to these característics, but overall, they arent sacred individuals nor super heroes or nothing like that, they are chronically ill people that usually present a lot of health complications that in most cases overcomplicates their daily lives or even can shorten their lifespans (for example, said "super omegas" would be way smaller than the average omega, which usualy leads to frequent bone pains due the incorrect development and consequent malformation of their bones) I also imagine said "super alphas and omegas" being very prone to suffer mental illnesses since the massive amount of hormones they segregate would make them turn into very problematic individuals in general (for example making omegas to be extremely volatile and emotionally irrational individuals, or alphas to have a weird mix between a higly stoic nature and maximized protection instincts, causing them to either become toxic/ manipulative or directly psychopats)

Hi!

What an interesting idea. In my au, well I've never thought about it, but I'd also say that they would be ill, if not extremely chronically ill, people. Depending which age you're writing in, I'd venture to guess there just may not be many of these people around - they would've died very young without the proper medication and constant treatment. That also leads into a larger scientific question about how many chromosomes people in omegaverse have and how exactly their genetics operate. A conversation I'd need a much better grasp of biology and genetics to answer! So I leave it "behind the curtain" in my au, and in fact it's never come up. But if it does, I'll be sure to post.

My notion that having extra chromosomes may result in chronic illness is based on the idea that they probably have more chromosomal pairs or some other genetic system - one that would make the extra material very unlike the human world. Here we see trisomy - which leads to conditions like Down Syndrome. People with DS can now live very fulfilling and rich lives, but it wasn't always that way and it still isn't smooth sailing for many.

I don't use the "super powered" "ultra alpha/omega" headcanons in my au but let's see what we can whip up for you.

It gives the bearer a stronger scent and a better ability to interpret other people's scents.

Decreases fertility and ability to reproduce

Longer heats/ruts that are more intense emotionally/mentally and may cause pain like cramping, migraines, and nose bleeds.

May cause allergic reactions to foods, natural products, etc... This is a common sign (besides infertility) of the condition. Common allergies include - dairy, wheat, some meat products, and nightshades. Some bearers may also have allergic reactions to biological fluids and substances that are not their own including saliva and other natural lubricants.

Have a slightly higher endurance.

[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

[trainsgenderfoxgirl2816]

I haven't seen many disability pride month posts about Ehlers Danlos Syndrome, so I'll make one and screw it how about all 13 types not just the Hypermobile type (which is by far the most common type)

[hubbyalh]

[justaminnow]

*takes muscle relaxers and pain medicine for subluxation*

Me: im not in pain and I can move around a bit. I was being dramatic and should have gone to work! Probably shouldn't have scheduled that doctor's appointment.

*medication wears off*

Me: I'm in so much pain. Do I need to go to the ER? Am I going to get any sleep tonight? I feel like I can't move. Help.

[concerningwolves]

Hi! I really like your blog and you have some much appreciated writing opinions to me. Apologies if this is not an allowed question but would you have any suggestions on what to keep in mind when writing a character with Russell Silver Syndrome? I have been doing my research but unfortunately as with many conditions most things I can find are based towards parents of children with and not adults who have it. Sorry if this is disruptive,Thank you for your lovely blog

oh man this question makes me so happy anon you have no idea. RSS/SRS representation!! Yes!!!

Writing a Character with Russell-Silver Syndrome/Silver-Russell Syndrome

Russell-Silver syndrome (RSS) is a rare condition associated with poor growth both before and after birth. Signs and symptoms vary and may include low birth weight, short stature, characteristic facial features, large head in relation to body size, body asymmetry, and feeding difficulties. Other features may include poor appetite, clinodactyly (curved finger), digestive system abnormalities, delayed development, and/or learning disabilities. The genetic causes of RSS are complex and relate to certain genes that control growth. — information on RSS from rarediseases.info.nih.gov

What this this answer will cover:

My experience with RSS and various thoughts on living with it

RSS in adults (+ adult characters)

Things to remember when writing any disabled character

Resources

My experiences with RSS and various thoughts about living with it

Russell-Silver syndrome has felt like a non-issue to me for a long time, but I'm realising now that that was only because so little was known about it. There was no molecular test when I was born so my diagnosis was purely clinical, (using "a checklist", as my dad always told me). Still, I've grown up under this... not quite a shadow, but definitely a pervasive awareness, that I had this rare disorder. It made every meeting with a new health professional that much more exhausting, because nobody ever knew what it was (and this is still a problem I have when explaining my health history to new doctors today). Either me or my parents would end up teaching doctors, and for a long time, we were working with outdated information because very little was available to us. Since I first got access to the internet in about year two at school, I've repeatedly sat down and searched for Russell-Silver Syndrome – and I've watched as, over the course of those last seventeen years or so, increasing amounts of information have appeared.

The increase in information is wonderful! It gives me hope! But growing up with this sense that there was something strange wrong with me was deeply alienating. I have a lot of grief about it.

What you say about not being able to find many sources for adults with the condition also raises a very important point: RSS literature focuses very heavily on symptoms in infants and children because that's when the condition is most "obvious" and/or when it has the most noticeable impact on a person's life. In other words, most information is written up to help parents cope with the extra needs that RSS kids have because of their condition. Infancy is also treated as a sort of golden period for clinical diagnosis, because individuals with RSS will usually lose the more obvious physical traits as they age.

Although RSS has a firm diagnostic criteria, it can look quite different between individuals. (I'd actually say it's fairly similar to autism in that respect). The term used for this is phenotype:

... a phenotype is all the physical characteristics and abnormalities found in an individual patient that are attributed specifically to RSS. Some individuals with RSS have many traits, thus a severe phenotype, while others have very few traits, thus a mild phenotype. → from the MAGIC Foundation's RSS page

I was an extremely ill baby. A lot of the medical problems I faced were linked to RSS, but I don't remember this on account of being, y'know, a baby. So, if you'd asked baby me for my opinion and if baby me were somehow able to answer and comprehend, I'd have said I had a severe phenotype. Now that I'm in my early twenties, I'm more inclined to say I have a mild phenotype – but as I'll explain, I'm no longer sure how true that is.

[Russell-Silver Syndrome in adults, basic disabled character guidelines, and resources below the cut]

Russell-Silver Syndrome in Adults (+ adult characters)

You can see in my childhood photographs the RSS-typical "triangular" face caused by a too-small jaw and large forehead, and slight facial asymmetry. I was chronically underweight until I got urgently referred to a dietician in like 2018, and my parents had an absolute nightmare of a time with feeding and making sure I ate enough when I was younger. I was still ordering toddler or child portions at restaurants well into into my early teen years because my appetite was so limited. I was also quite delayed in walking, speaking, and in development of motor skills, which are again typical of the condition.

Most of these traits don't affect me any more. The facial asymmetry and face shape are basically unnoticeable. I had surgery to remove four teeth, which fixed the overcrowding caused by the small jaw, and braces sorted out the rest. The dietician helped me learn how to make foods that were calorie-dense so I could get the nutrition I needed in smaller portions, and I'm now a good weight.m(The only part of the infant criteria that noticeably still affects my day-to-day life is the lack of appetite stuff, actually). I grew taller than the doctors expected me to, although I'm on the short-to-average end. I still have issues with balance and spatial awareness, but it's manageable. I've been in and out of physiotherapy and podiatry since I started walking. So, no, most of the RSS traits so common in infancy don't affect me now – but I'm still living with the condition, and it's taken a hell of a lot of treatment to get to where I am now. I honestly didn't realise how much until I started writing this answer!

Interestingly, the end of the MAGIC Foundation's RSS page has some information on RSS into adulthood, prefaced by this sentence: "Many people with Russell-Silver Syndrome (RSS) believe that once they reach their final adult height, their “RSS issues” are over." Other anecdotal evidence from other sources says the same thing. I would have once been inclined to agree, but my latest bout of reading up on RSS has taught me some interesting things. For example, there's overlap between autism and RSS! Or at least, according to the silverrussellsyndrome.org: "Some evidence indicates that there may be neurodevelopmental differences between the different genetic causes of SRS". Other sites state more explicitly that there's a link between RSS and Austism Spectrum Disorder, and research seems to still be ongoing, so ¯\_(ツ)_/¯

When I went to a chiropractor, he pointed out an issue with my jaw muscles and placement (? Couldn't quite hear what he said about that), and said this could be at least a partial cause for my chronic migraine. I explained about the RSS small jaw thing, and he nodded and said that made sense. Anecdotal evidence also now shows that many adults with RSS experience functional problems with muscles and their skeleton, including back pain – which sure goes a long way to explain the near-constant pain I get, as well as the fibromyalgia. Once again, research on this is ongoing.

There are also some health risks that adults with RSS are more likely to face. These include metabolic syndrome, hypertension, testicular cancer and gynaecological issues. It's stressed that not everyone with RSS will develop these; but some are more common and should be monitored for, as in the case of testicular cancer risk in RSS individuals whose testes didn't descend properly.

Your takeaway from this is that RSS in adult characters would be represented differently from the way it's described in children. Because the phenotype varies so much from person to person, my experiences are absolutely not universal. There may be people out there who've retained the asymmetry, for example, or those for whom the digestive/appetite issues are an even bigger problem. It would be so nice to see an adult character with RSS though, because it's not a condition that you outgrow – it's one where the condition seems to grow with you.

Things to remember when writing any disabled character

People are people: don't just think about the disability! We're more than that. Make sure your character has what any strong character should have (regardless of identity) – quirks, desires, motivation(s), some kind of conflict that affects the plot, their connection to other characters, etc.

Do your research: might feel slightly counter-intuitive to the first point, but it is important you know what you're writing about. I.e., does your character take medication or undergo treatment? Do they use accessibility aids of any kind? What accommodations do they need in day-to-day life? How does their disability impact said day-to-day life?

Reasonable limitations: it's okay to have a disabled character be, y'know, disabled. Sometimes they need help, or sometimes they'll need to assert boundaries or ask for accommodations. Sometimes they simply can't do something because they aren't able to. These are facts of a disabled existence. The crucial thing is to avoid framing the character consistently like a burden or a hindrance.

Inclusive worldbuilding: most relevant in SFF genres, but basically, if you're taking the time to do any degree of worldbuilding (be that a "real"-world urban fantasy environment or an entire invented continent with dragons), consider where disabled people fit in. Abled authors rarely, if ever, have to consider their place in the real world, so they rarely consider accommodations and accessibility features in their fantastical worlds. It's important to consider these things if you want to have well-rounded representation for disabled characters.

Listen to disabled voices: Ask disabled people, read/watch/listen to media created by disabled people, and remember that no one disability is a monolith. There may be a lot of nuance and debate within communities, but you can do your best by listening to the consensus and keeping an open-minded, good faith mindset.

This list ↑ is very much a TL;DR set of guidelines, but it's a good place to start. You'll find more information in the resources section below.

Resources:

In reference to your question, you might find my answer to this ask about including little-known conditions in fiction useful.

You'll find more discussions and guides in my disabled characters tag, my disabilities tag and my sensitivity & representation tag, as well as links to other resources.

The MAGIC Foundation – they have more in-site resources for RSS linked at the very bottom of the page

Silver Russell Syndrome Organisation – whole website dedicated to providing information about RSS

Diagnosis and Management of Silver–Russell Syndrome: First International Consensus Statement – This is a 2017 international consensus of research on RSS, condensed and simplified for general audiences. The original consensus is geared entirely towards medical professionals for treatment and research of the condition.

If anyone who has RSS wants to weigh in, please do!!

[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.

[neurodivergentbraingoblins]

I was recently diagnosed with an incredibly rare neurodevelopmental disorder caused by a genetic mutation on the PPP2R1A gene. The disorder is so rare it doesn't have a fancy name yet 😅 the worst symptoms of my disorder is the mental illnesses I deal with. Add onto that childhood abuse targeted at me because of my undiagnosed issues and I got the shit storm of mental health.

I have been diagnosed with C-PTSD, ADHD, OCD, PMDD (premenstrual dysphoric disorder), Borderline Personality Disorder, Excoriation Disorder (severe skin picking), and Sensory Processing Disorder. Informally diagnosed as Autistic.

My entire life, I just thought I was a broken human being. Turns out I just have a genetic disorder that literally causes me to lose my mind 🤣 I always knew that mental illnesses liked to come in groups, but I got hit with the one-two punch that has left me unable to function on my own

[neurofibromemetosis]

Is this a fibroma I feel underneath my skin or is nothing there and I'm just being paranoid?: An NF Autobiography

[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! 💓

[whoopsie-doodle]

What's wrong with you?

Well, I asked chat gpt to explain it like I'm a child. Feels like a glitch in the matrix. Glad I finally have a science based explanation.

In short. The code sometimes doesn't transfer all needed material so I glitch a little.

Come along while I gain the courage to share my journey.

[bpod-bpod]

Resulting from Mutation

A study in mice uncovers the gene CDK13's key role in craniofacial and neural development – insight into mechanisms underlying the genetic disorder CHDFIDD which is associated with mutations in CDK13 affecting development of the face and heart, and intellectual abilityRead the published research article here

Image from work by Marek Hampl and colleagues

Laboratory of Molecular Morphogenesis, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Brno, Czech Republic

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

[leeeras]

"You have a genetic (heart) disorder" I'd say I'm doomed by the narrative but whatever

[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