#kyphoscoliotic eds

[the-autistic-system]

Doctors have always told me I'm the worst case of EDS they've seen in their careers, and I had genetic testing done back in 2016 (results came back inconclusive, my guess is they tested for the more common types and didn't find what they were looking for, but they did say they were certain I had EDS).

I've recently started looking into EDS again, refresh my memory of the disorder and its types, and as I'm going through the types I'm certain I have a few of the rarer types. I'm likely 1 in a few million. So yeah I'd say I'm bound to be the worst they've seen, some too scared to actually help me bc they fear making things worse and I get it, but it leads to medical gaslighting and conjures my cptsd from medical maltreatment. I've had great doctors too, but even they have said they can only do so much.

Really makes me feel like a shepherd sometimes, I can recognize small symptom patterns and lead those with less severe cases to getting a proper diagnosis and can recommend treatment from experience, I can provide an understanding ear to listen to struggles, trials and tribulations, of having EDS.

But I am such a special case that help in my area is limited, we can't always afford treatments, and I don't really have anyone to relate to with certain problems. I'm weary of entering EDS spaces bc I've given others anxiety about their own EDS in the past bc mine is so bad, what if theirs gets that bad- it likely won't be as severe but it will progress, thats the nature of these syndromes.

[queercatcave]

The thing with a lot of rare diseases is that, if you bother to look, they’re seriously not hard to diagnose. We’ve had so many signs of kEDS our entire life, and it was always some fucking medical mystery, and then after 18 years a doctor was finally like “piss in this container for me” and within a week the mystery is solved.

[highonsprite]

Ehler-Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is a group of genetic connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. There are several subtypes of EDS, each with its own unique features and underlying genetic mutations. While the severity and presentation of EDS can vary widely among individuals, it is generally characterized by a defect in the production or structure of collagen, a key component of connective tissues in the body.

Types of Ehlers-Danlos Syndrome:

Classical EDS (cEDS): Characterized by joint hypermobility, skin hyperextensibility, and atrophic scarring. Individuals with cEDS may also experience joint dislocations, easy bruising, and complications related to fragile blood vessels and internal organs.

Hypermobile EDS (hEDS): Characterized by joint hypermobility, chronic joint pain, and soft, velvety skin. Other common features include easy bruising, muscle weakness, and gastrointestinal symptoms such as irritable bowel syndrome (IBS).

Vascular EDS (vEDS): Characterized by thin, translucent skin, easy bruising, and increased risk of arterial and organ rupture due to weakened blood vessels. Vascular EDS is the most severe subtype and can lead to life-threatening complications.

Kyphoscoliotic EDS (kEDS): Characterized by severe muscle weakness, joint laxity, and curvature of the spine (kyphoscoliosis). Individuals with kEDS may also experience eye abnormalities, skin fragility, and respiratory complications.

Arthrochalasia EDS (aEDS): Characterized by severe joint hypermobility, congenital hip dislocation, and skin hyperextensibility. Individuals with aEDS may also have a risk of early-onset osteoarthritis and joint pain.

Dermatosparaxis EDS (dEDS): Characterized by extremely fragile skin that is easily bruised and tears. Other features may include joint hypermobility, hernias, and delayed wound healing.

Diagnosis and Management:

Diagnosing EDS typically involves a combination of clinical evaluation, family history assessment, and genetic testing to identify underlying genetic mutations associated with the condition. Management of EDS focuses on symptom relief, injury prevention, and supportive care. This may include physical therapy to strengthen muscles and improve joint stability, orthopedic interventions such as bracing or surgery to address joint instability or dislocations, and lifestyle modifications to minimize the risk of injury.

Living with Ehlers-Danlos syndrome can present unique challenges, but with appropriate management and support, individuals with EDS can lead fulfilling lives. Ongoing research into the underlying mechanisms of EDS and advancements in treatment options offer hope for improved outcomes and quality of life for those affected by this complex and often misunderstood condition. If you suspect you or a loved one may have EDS, it's important to consult with a healthcare professional for evaluation, diagnosis, and management tailored to individual needs.

Visit FirstChoice Rheumatology for a consultation.

[ppttherapyppt]

Physical Therapy Clinic in New York City

Classical Ehlers-Danlos Syndrome (EDS) is a rare genetic disorder that affects the connective tissues in the body. It is one of several subtypes of EDS, each characterized by specific symptoms and genetic mutations. Classical EDS is primarily characterized by:

Hyperextensible Skin: People with Classical EDS often have extremely stretchy, velvety skin that is prone to bruising and scarring easily. The skin can be pulled away from the underlying tissue without much effort.

Joint Hypermobility: Joint hypermobility is another hallmark of Classical EDS. Affected individuals may have joints that can extend beyond the normal range of motion, which can lead to joint dislocations and chronic joint pain.

Fragile Blood Vessels: Classical EDS can also affect blood vessels, making them more prone to rupture or aneurysms. This can be a serious and potentially life-threatening complication.

Wound Healing Issues: People with Classical EDS often experience delayed wound healing and may develop wide, atrophic scars.

Soft, Doughy Skin: The skin in Classical EDS may feel soft and doughy to the touch.

Classical EDS is caused by mutations in the COL5A1 or COL5A2 genes, which are responsible for producing collagen, a critical protein that provides structural support to various tissues in the body, including the skin, joints, and blood vessels. The genetic mutations lead to the production of abnormal collagen, resulting in the characteristic features and symptoms of the condition.

It's important to note that EDS is a heterogeneous disorder, meaning there are different subtypes with distinct clinical presentations. Other subtypes of EDS include Hypermobile EDS, Vascular EDS, Kyphoscoliotic EDS, and more. Each subtype is associated with specific clinical criteria and genetic mutations. Diagnosis and management of EDS typically involve a team of healthcare professionals, including geneticists, rheumatologists, and physical therapists, as well as tailored treatment and symptom management approaches.

Ehlers-Danlos Syndrome (EDS) is a group of rare genetic connective tissue disorders that affect the body's ability to produce collagen, a key protein that provides strength and elasticity to various tissues. People with EDS often experience a range of symptoms, including hypermobility of joints, skin that is easily bruised and hyper-elastic, and various complications related to weak connective tissues.

Pain management for individuals with Ehlers-Danlos Syndrome can be complex and require a multidisciplinary approach involving medical professionals such as rheumatologists, geneticists, pain specialists, physical therapists, and more. Here are some strategies that might be considered:

Medications: Depending on the type and severity of pain, various medications might be prescribed. Nonsteroidal anti-inflammatory drugs (NSAIDs) can help manage joint and muscle pain. For more severe pain, opioid medications might be considered, though their use should be carefully monitored due to the risk of addiction.

Physical Therapy: Physical therapy can be extremely beneficial for individuals with EDS. A physical therapist can provide exercises to improve joint stability, strengthen muscles, and enhance overall body mechanics. Aquatic therapy might be particularly useful due to the buoyancy of water reducing stress on joints.

[blindedbythedarkness]

A Rant into the Void

I am so fucking sick of my body right now. Actually, no, that’s not the problem at all. I am actually fucking sick of the response of medical professionals to my body. My body itself is doing its fucking best, all things considered.

Put simply, I can’t face going to the doctor anymore. I’m too afraid. Which isn’t exactly a great place to be, mentally or physically, when you have a genetic condition that can (though rarely) result in life threatening complications. 

I’ve never fucking liked it. Not one bit. It’s been built into me from a young age to suck things up and carry on. My dad used to passively scold me for ever taking a day off school by reminding me that he never did and telling me about all the days he’d gone to work with one ailment or another. He’s also the reason I’m so afraid of taking any medication now after years of me hearing how “taking paracetamol isn’t good for you. If you take it enough it stops working. It damages your liver too.” Even though painkillers do barely work, I can’t remember the last time I gave them a try. Now I’m older I know that he probably has his own deep seated issues that led to the things he said, but the things he said still stick like glue.

My mum was no better. As a nurse, she never took any shit from me and I would never have been able to skive off school. At one point I went to school for a week with an unknown broken arm, despite my protests. It’s rare that she explicitly called me a “hypochondriac”, but I could always tell that she was exasperated by my numerous visits to the GP, hospital and A&E. It’s only in the past year, now that my EDS has been confirmed for a second time (within the new guidelines) that she’s started to take me more seriously. I still don’t often feel able to tell her about my health concerns though, despite her having (a more mild version of) the same condition. I think she feels guilty for passing it onto me, but her responses usually comes across as frustration and annoyance. 

In the past year, my fear of doctors has grown even more. Firstly, now I’ve seen what a real illness faker looks like and does, I’m forever terrified that I look like I’m doing the same. I’ve almost obsessively started taking photographic evidence of my various ailments for fear of being accused of Munchhausen's by a medical professional (despite the difficulty of convincing others of a real case of fii). Given I have also spoken out about this girl, I also live in fear of seeming like a hypocrite. Those close to me say “we know you’re really ill, we’ve seen it, we know you aren’t faking it and you’re nothing like her” but still I can’t shake the fear.

Doctors have been pretty shit lately, too. I’d had bad experiences in the past: a GP that couldn’t identify a broken elbow and a gastro consultant who suggested my pain was all in my head, but for a while I’d had a good run. The past year has been fucking awful though. One particular GP at the surgery has been the cause of almost all of it, to the point where I was going to make a formal complaint before corona got in the way. For the first time ever I had gone to an outpatients appointment alone (something I’d be afraid of due to the potential for gaslighting) and for once the consultant was amazing- he gave me a reason for my pain  that had been found on an MRI and reassured me he would explain it all to my GP. However, the consultant had lied. He didn’t write in the letter anything that he said to me and GP soon decided that I was lying about my account, to the point where I questioned my own memory. Contrary to the advice of the consultant, and later my physio (who confirmed what the consultant has originally said), he advised me to walk more to solve my issue. It also took me refusing to leave his room until I got a referral to a rheumatology consultant for him to allow it. That was after him patronizing me consistently and insisting that “there’s no EDS cure you know?” and  “physio is your only option”. The arrogant cunt obviously thought his single lecture had taught him more than 10 years learning about this condition had taught me. I knew my rights and got what I wanted, but I live in fear of my record being marked with “fii” or “anxious patient” that would virtually destroy any further chances of me getting treatment.

This becomes a problem, of course, when I seem to acquire a new co-morbidity or complication every month at the minute. A few weeks ago I had it confirmed that I have a bladder (and potentially pelvic) prolapse. The doctor I had spoken to before the examination though was Dr. Self Important Prick, and he had seemed doubtful of the whole thing. So even though it was proven, I’m still too afraid to call again. This week I have had a bingo card full of the symptoms of a cerebrospinal fluid leak (and not for the first time). I don’t know what to do though. Given the susceptibility of EDS patients to them, I’m fairly certain that’s what it is. Given it’s recurring, I’m also pretty sure I need to see someone. But it’s unstoppable force meets immovable object: if I go in there having done my research I seem like a hypochondriac, yet one study showed that 0% of csf leaks are diagnosed correctly the first time. These are the complications of living with a rare condition. It’s impossible to walk the fine line between advocating for yourself and seeming like a fake because you weren’t a whole chapter in the doctor’s textbook. 

So here I am. Fed up. Angry at myself for not having the balls to get myself the help I need and angry at the medical profession for scarring me so badly. And with a lovely clear, metallic, currently unidentified liquid dripping down the back of my throat.

Since it seems these rants may get more regular, I’ve made a dedicated page to fill with my void rants @thatangryedsbitch

[kagrenacs]

From what I can tell of my notes we’re all just bastards that have connective tissue issues 💖

[sciencetynan]

I’m not trying to be a hypochondriac but I think I might have figured the cause of my back issues

Basically I’m 99% certain that I’m Autistic, and apparently hypermobility disorders (i.e. ehlers danlos syndrome and similar disorders) are incredibly common in Autistic people.

And I never thought this could be related because I do not experience the more common symptons of painful dislocation of joints and more obvious features like that.

There’s apparently a version of this that almost exclusively messes up the connective tissue in your spine and causes scoliosis and kyphosis (which has made my life a living hell for the past decade), and its symptoms also can lead to poor motor issues (which I have a diagnosed learning disability for because I physically cannot write with a pencil fast enough to keep up with notes in class), and it also apparently leads to being incredibly tall with low muscle mass (I’ve been underweight most of my life).

Its called: kyphoscoliotic EDS

I’m going to ask my doctor about this soon. I’m still dealing with a bunch of other medical issues, so why not add another one. lol.

It can apparently cause a bunch of other medical issues down the road too, so that’s fun.

[the-autistic-system]

Hey you have no requirement to answer this if it crosses a boundary ir makes you uncomfy. But may I ask how you get diagnosed with ehlers danlos syndrome? Because I had one neurologist say I show all the symptoms and another say I don't- although I AM showing symptoms and whenever I mention it to my GP I get "well I don't get how to diagnose you." So I'm kinda stuck and looking for advice. Again no pressure to answer or reply to this! /gen nm

I was diagnosed very early in life, i'm not sure I even remember the doc appointment when I was diagnosed; but I know it was a geneticist that diagnosed me, and wagered a guess that I had the kyphoscoliotic type. (between 2002–2004)

I saw a different geneticist in 2016, who agreed that I definitely have EDS- he could tell by looking at me— and they took blood sample for genetic testing; 12 out of the 13 subtypes of EDS affect specific genes. I'm not sure what types they had been looking for in my case but the results came back "inconclusive" then, curious.

so yeah I would start with trying to get in with a geneticist. You'll likely have to request a referral from your GP to get in with one.

and dont be discouraged by adversary voices of doctors when it comes to your body and your experiences; they dont know you like you do!

you're experiences are valid, formal diagnosis or not <3

—if anyone has anything else they can offer dear anon, pls comment!

[queercatcave]

Somebody should make a discord server specifically for EDS types besides hEDS. I don’t have the capacity to make it but someone should.

[nerdymedzebra]

#EDSAwarenessMonth There are 14 types of #EDS, and Hypermobility type (hEDS) is only one of them! hEDS is also the only type that doesn't yet have the gene(s) identified. Probably in the fall/winter I am going to bypass the TWO YEAR wait for the CO geneticist (who EVERY EDSer in the state hates) and go to a cash-only geneticist in FL who specializes in EDS. I am not nearly as hypermobile as many hEDSers, so if I had to guess, I would guess I have cEDS or clEDS, but I'll have to wait and see.

Types: ARTHROCHALASIA EDS displays severe generalized joint hypermobility, congenital bilateral hip dislocation, and recurrent subluxations and dislocations of both small and large joints.

BRITTLE CORNEA SYNDROME displays thin, fragile cornea, with an increased risk for spontaneous corneal rupture

CARDIAC-VALVULAR EDS involves severe cardiac-valvular disease that requires valve replacement surgery in conjunction with variable skin hyperextensibility, atrophic scarring, and joint hypermobility.

CLASSICAL EDS affects skin, wound healing, and joints. Joints can stretch beyond normal, causing pain. Skin that can be stretched further than it should is easily torn, and doesn’t repair itself well, causing disfiguring scarring.

CLASSIC-LIKE EDS is distinguished by generalized joint hypermobility; hyperextensible, soft and/or velvety skin without the typical atrophic scarring seen in classical EDS; and easy bruising.

DERMATOSPARAXIS EDS causes extreme skin fragility with redundant, almost lax skin, and severe susceptibility of bruising.

KYPHOSCOLIOTIC EDS results in abnormal spine curvature at birth, reduced muscle tone, muscle atrophy, and joint hypermobility.

MUSCULOCONTRACTURAL EDS results in distinctive head and facial features; multiple deformed and rigid joints at birth; and characteristic skin features.

MYOPATHIC EDS involves muscle weakness that is present in infancy or childhood and is associated with proximal large joint rigidity and distal joint hypermobility.

PERIDONTAL EDS results in early-onset inflammation of the tissue around teeth, with extensive gum destruction and loss of teeth starting in childhood or adolescence.

SPONDYLODYSPLASTIC EDS results in short stature, joint hypermobility, and intellectual disability.

VASCULAR EDS is the most serious type due to the possibility of a shortened lifespan. Minor trauma can lead to extensive bruising and skin tears. Arterial rupture is the most common cause of sudden death.

A 14th type of EDS has recently been discovered but has not yet been officially classified and named. This variant results in a set of symptoms that relate to those found in other EDS: joint laxity, redundant and hyperextensible skin, poor wound healing with abnormal scarring, osteoporosis, and other features.

[ppttherapyppt]

Physical Therapy Clinic in New York City

Ehlers-Danlos Syndrome - Fatigue

Fatigue is particularly common in hypermobile EDS (hEDS). Contributing factors can include sleep disorders, muscle deconditioning (loss of muscle tone and endurance), headaches, and nutritional deficiencies. It is important to exclude other causes, such as anemia or a chronic infection.

The primary cause of EDS is related to defects in the synthesis, structure, or processing of collagen or other components of the extracellular matrix, which are essential for providing strength, support, and elasticity to various tissues, including skin, joints, blood vessels, and organs.

Can EDS cause extreme fatigue?

Conditions commonly seen in EDS and which may manifest as or exacerbate fatigue include sleep disorder, chronic pain, deconditioning, cardiovascular dysregulation, bowel and bladder dysfunction, psychological issues, and nutritional deficiencies. Feb 10, 2017

EDS is generally classified into several major types, including:

Classical EDS (cEDS): Caused by mutations in the COL5A1 or COL5A2 genes, leading to abnormalities in Type V collagen.

Hypermobile EDS (hEDS): This type is associated with hypermobility of joints and is believed to have a genetic component, although the specific gene mutations are not well-defined.

Vascular EDS (vEDS): Caused by mutations in the COL3A1 gene, leading to abnormalities in Type III collagen. vEDS is the most severe form of EDS and is associated with a high risk of arterial and organ rupture.

Kyphoscoliotic EDS (kEDS): Caused by PLOD1 or FKBP14 gene mutations, leading to collagen processing abnormalities.

Arthrochalasia EDS (aEDS): Caused by mutations in the COL1A1 or COL1A2 genes, leading to abnormalities in Type I collagen.

Dermatosparaxis EDS (dEDS): Caused by mutations in the ADAMTS2 gene, leading to abnormalities in the processing of collagen.

The genetic mutations in EDS result in weakened or structurally abnormal connective tissues, leading to the various symptoms and manifestations of the syndrome, including joint hypermobility, skin hyperextensibility, and vascular and organ problems.

Fatigue is a common symptom in individuals with EDS. While its exact cause is not fully understood, it likely results from a combination of factors, including chronic pain, poor sleep quality due to pain and joint instability, autonomic dysfunction, and the challenges of living with a chronic condition. Fatigue can significantly impact the quality of life for individuals with Ehlers-Danlos Syndrome, and its management is an essential aspect of their overall care.

Fatigue is a state of extreme tiredness, weariness, or lack of energy. It is a normal and common sensation that most people experience occasionally, especially after physical or mental exertion, lack of sleep, or periods of stress. However, when fatigue becomes chronic and persistent, lasting for an extended period despite adequate rest and sleep, it may indicate an underlying medical condition or other factors that require attention.

Fatigue can manifest in various ways, and its symptoms can include:

Physical tiredness: Feeling physically weak, heavy, or drained of energy.

Mental exhaustion: Difficulty concentrating, memory problems, or impaired cognitive function.

Sleep disturbances: Fatigue can disrupt sleep patterns, leading to difficulty falling asleep or staying asleep.

Reduced motivation: A lack of interest in activities and reduced productivity.

Irritability: Feeling easily annoyed or impatient.

Muscle weakness: Physical weakness or difficulty performing usual tasks.

Headache: Frequent headaches or migraines.

Dizziness: Feeling lightheaded or dizzy.

Slowed reflexes: Reduced reaction time and impaired coordination.

Mood changes: Fatigue can lead to feelings of sadness, anxiety, or depression.

Causes of fatigue can be numerous and may include:

Lack of sleep: Insufficient or poor-quality sleep can lead to fatigue.

Medical conditions: Chronic fatigue can be a symptom of various medical conditions, such as anemia, thyroid disorders, chronic pain, infections, and autoimmune diseases.

Psychological factors: Mental health issues like stress, anxiety, and depression can contribute to fatigue.

Medications: Certain medications may cause fatigue as a side effect.

Lifestyle factors: Poor nutrition, lack of physical activity, and excessive alcohol or caffeine consumption can contribute to fatigue.

Chronic illnesses: Conditions like fibromyalgia, chronic fatigue syndrome (CFS), and some autoimmune disorders can cause persistent fatigue.

It's important to differentiate between normal fatigue, which typically improves with rest and self-care, and chronic fatigue, which can be a symptom of an underlying health issue that requires medical attention. If you experience persistent fatigue or if it significantly interferes with your daily activities, discussing it with a healthcare professional to identify any underlying causes and receive appropriate evaluation and treatment is essential.

[queercatcave]

It’s Ehlers Danlos awareness month so shoutout the everyone with rare types of EDS. Shoutout to everyone who has never and very likely will never meet another person with their type. Shoutout to everyone who thinks they’ve found a doctor who understand EDS but that turns out to just mean hEDS.