#brittle cornea syndrome

[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.

[noagskryf]

It also minimises how serious HSD/EDS is. I don't know a lot about HSD, so i won't say anything about it, but even hEDS, the "mildest" form of EDS, is a multisystemic disorder that ranges from mildly to severely disabling. I have hEDS, and i have neurological, joint, immune, gastrointestinal, renal, autonomic, blood, and dermatological complications and symptoms directly caused by hEDS. No, Emily, your hands hurting from texting in a weird position for hours isn't the same as my organs being too hypermobile to function properly.

And that's ignoring the rarer + more severe types of EDS like vEDS, which is actually life threatening, or brittle cornea syndrome, which can cause blindness, or kEDS, which causes severe kyphoscoliosis and can cause breathing and organ issues. There's 10 more types i haven't even mentioned.

To reduce EDS to just hypermobility with chronic pain makes me so angry and i won't ever shut up about it and i will gatekeep it because i've been told by HCPs that EDS is just symptomatic hypermobility. This meant i had a life-threatening complication during surgery last year, which could've been avoided if i had been listened to.

Also it's really shitty to try to diagnose strangers online in general but that would be too tangentical so i'll leave this here

I wish we'd stop telling everyone with hypermobility and chronic pain that they must have EDS or HSD-- up to 57% of people experience generalized joint hypermobility and up to 50% of adults experience chronic pain

both of these things are exceptionally common with huge overlaps. yes, HSD is common. yes, hEDS is fairly common. no, the vast majority of people who have hypermobility and chronic pain do not have either.

it's also worth noting that hEDS and HSD are both diagnoses of exclusion. if someone has not had any testing done for any condition causing chronic pain why are you suggesting to them that they must have one of these two disorders that can only be diagnosed after ruling everything else out?

not everyone has EDS/HSD!!

[keratoconusgroup]

2 year old son keratoconus

My son has beginning keratoconus, he probably has brittle cornea syndrome. I am devasted. This breaks my heart . Any advise? submitted by /u/Comprehensive_Gur_37 [link] [comments] https://www.reddit.com/r/Keratoconus/comments/126qkuu/2_year_old_son_keratoconus/?utm_source=dlvr.it&utm_medium=tumblr

[billgavemeextrachips]

Clear Care contact lens cleaner states that if the non-neutralized solution is accidentally swallowed, “gastric discomfort or vomiting may result” and instructs people to drink a large quantity of water immediately.

They say nothing about what happens if you accidentally ingest the neutralized solution. Apparently they never counted on some medical rarity who has to use their product on her lenses every single night, and who rations her trips up and down the stairs due to chronic pain, so she just... dumps the used solution in a mug in her bedroom every morning and only empties it out every couple of days.

I am that medical rarity. I am also a dumbass. Believe it or not, it took two and a half years of wearing scleral lenses before the inevitable occurred. Now I know what used Clear Care tastes like!

The ocean. It tastes exactly like getting a mouthful of the fucking ocean. In New Jersey.

I spit most of it out. And I’m sure Clear Care would be legally required to warn people if the neutralized solution could fuck you up worse than the non-neutralized stuff. So I’m sure I’ll be fine. More or less.

[podcastdx]

Complex Diagnoses

On this week's show we are speaking once again with Kristine Hoestermann, the founder of "FindYourRare" and she will be explaining how difficult it has been to get a diagnosis for Ehlers Danlos Syndrome and where that diagnosis took her (Brittle Cornea Syndrome & the BRCA Gene for Breast Cancer are the latest two) 

Heeeeere's Kristine!

  Allow me to introduce myself🦓My name is Kristine (kk). I am the CEO of RARE.™ A brand that was born from my own frustrations following the onset of my symptoms in 2016. It never occurred to me I could wake up sick and never get better. That I would lose everything I knew without noticing.

  In the beginning of getting sick I experienced extreme isolation. I felt like I didn’t fit in anywhere. Among symptoms that have yet to have to be attributed to a known disease🧬I have been diagnosed with EDS , POTS, and Autoimmune Small Fiber Neuropathy Secondary to Unknown Connective Tissue Disease 🆗 That feels like a lot right? but I didn’t look sick and that made it really hard for not only me to accept but also the world around me 🌍

  I created RARE.™ as a safe space for myself until I realized so many other rare disease fighters, chronic illness, chronic pain, invisible disease or any human needed that same thing. So I got to work and here we are. Together we can start to bridge the gap 🚧

  🆗More about the RARE. Girl behind the brand; 

🥄I  am a fierce lover of Grey’s Anatomy. Meredith Grey is my person.

🥄You can be sure that I’ll be either listening to Taylor Swift or True Crime. 

🥄My favorite book is a Thesaurus

🥄I am a loyal Ticondaroga Pencil user

🥄I love to create & I am a huge nerd

 🥄My Wardrobe can easily be mistaken for your grandmas & I love it

  Change Starts Here. Connect With RARE.™

  📱Share With Us 🔛@findyour rare on all social platforms #findyourrare

🛍 Shop your purpose 🔛 www.findyourrare.com

🎙 Because We Are Strong Podcast 🔛 www.bwspod.com

🗳 VPR Membership Club 🔛 findyourrare.info/vrp 

✉️ Reach Out 🔛 info@findyourrare.com

Check out this episode!

[sarah-wants-to-write]

Searching My Dreams for a Lifetime; Chapter Four (Criminal Minds)

                “It takes courage to live, yes, but it takes true bravery to stand your ground in a world aligned against you.”                 -Jake Bonsignore

◊         Shira didn’t know which forest she was in, but she knew it wasn’t far from the city. They hadn’t driven that long. Whoever it was, they had taken care not to hit her head or break her glasses, which meant they knew about her EDS and Brittle Cornea Syndrome. Bound with her arms above her head, forced to kneel, she looked for any sign of where she was.

        “Alison, listen to me,” she called out to the girl, bound to another tree nearby “it’ll be okay. You’re going to be fine.”

        “How can you promise her that?” the Unsub asked, voice deep and raspy “and here I thought you were a genius.”

        “I can promise her that because I’m here,” Shira countered, focused on the area of his face “and it’s been me you’re after, this whole time.”

         “And yet it took you this long to figure it out?” he replied, the laugh in his voice grating at her. Yet she knew not to antagonize.

        “What can I say?” she shrugged “You make for some fierce competition.”

        As she spoke, she wracked her brain for every fan name she could think of, trying to remember his name. Minnesota. OBK. Who was…

        Her blood ran cold, as she finally remembered.

         “You did all this for me, Kolbeck?” she asked as he walked towards Alison, causing him to stop in his tracks “I would be lying if I said I wasn’t flattered.”

        “And here I thought you’d forgotten about me,” He turned, pulling his hood back so Shira could see him “you never responded to my letters.”

        “A mistake on my part,” Shira replied, playing along to try and distract him “or maybe I was scared. You really were giving me a run for my money, Oscar.”  

       “Seems you’ve learned,” Kolbeck declared, walking over to Shira “just like me.”

        The beat of silence, with him bringing the tip of his blade under her chin, had Shira resisting the urge to shiver.

        “Pay attention, Doctor,” he told her “our fun is just beginning.”

~

        When the team got to Kolbeck’s address, the house was dark and empty.

        “Should have known he wouldn’t be here,” Rossi muttered, once they confirmed the house was clear “now that he’s got her, he’s not gonna wait.”

        “Reid, Morgan, tear his office apart,” Hotch ordered, his desperation to stay calm almost visible “see what you can find to tell us about where he’d have taken Alison and Shira.”

        “Shira’s abduction was about opportunity,” Emily declared as the others left “it was the first time she was anywhere close to vulnerable since we got here.”

        “Takes guts to stage an abduction in front of a police station,” Rossi agreed “or desperation. After all, he still has Alison.”

        “He wants to make her watch,” Emily replied “after all, he’s a fan of hers. Maybe he’s looking for her approval?”

        “Or to show he’s better than her,” Hotch spoke up “prove to her that she isn’t the expert and genius that everyone makes her out to be.”

        “Makes sense, if he’s a narcissistic misogynist,” Rossi nodded, watching Hotch closely “the idea of any woman being better than him is too much. Bet if we look at his history with the other victims, they’ll all have had interactions with him where he perceived them as acting superior.”

        As silence fell on the three, Emily left to help the others, leaving Hotch and Rossi alone.

        “We’ll find her, kid,” Rossi promised, seeing the younger man’s shoulders tense up “she’s strong, and smart. She’ll be able to keep him distracted. She knows we’re coming.”

        “I just hope we don’t get there too late,” Hotch replied “for Alison’s sake, and…”

        Their names were called, and both men rushed to the office, were the others were standing over a table.

        “We found a map,” came Reid’s voice, moving so that Hotch could see it “it’s got the different crime scenes plotted out, but the organization is odd.”

        Looking at the map, Hotch could see the pattern right away.

        “Mannaz,” he declared “the rune for Man. There’s seven points. This one’s missing.”

        He pointed to the spot in the middle, between the two lines of points.

        “He’s focused on the mythology, he has to keep to the plan,” Rossi agreed “that’s where he’ll be.”

~

        “Don’t close your eyes, Alison,” Shira called over, watching as the girl resisted the urge to pass out “stay with me! It’ll be okay!”

        Shira tried to remember every detail, watching what Kolbeck was doing. He was taking blood from Alison to draw the sigil and runes.

        “You know, there’s something I don’t get Oscar,” she continued, earning his attention from bandaging the other woman up “blood is a normal part of sacrifice, but why carve the symbol into each tree? Isn’t the blood enough? Or do you need to leave your scar where people can see?”

        “See, more proof you’re not the genius people make you out to be,” Kolbeck taunted, pointing the knife at Shira “hypocritical of you to call someone out for making their mark.”

        “At least I didn’t hurt anyone,” Shira growled, struggling against her restraints as he stalked closer “you could have done so much more, Oscar!”

        “Didn’t hurt anyone?!” Kolbeck shouted “you coming on the scene destroyed any chance at a successful career! You stole that from me!”

        “How can I steal something you never had?” Shira taunted, trying desperately to keep his attention on her.

        Kolbeck’s slap to her face sent Shira to the ground, pulling her shoulder out of its socket and twisting her ankle.

        “I was set to be a leader, the best!” he cried out, hands shaking in anger “but you, a young girl with no reputation, took the entire field by storm and stole that from me!”

        “Then focus on me,” Shira hissed “she has nothing to do with this.”

        “Oh, I have something better planned for you,” Kolbeck smirked, pulling her up by her hair “why do you think the chains and hooks are here?”

        Shira immediately knew what he was referring to.

        “You want revenge,” she growled “you’ll use Hrafnkel’s fate, from the Freysgoða.”

        “You’ll be hung from the ankles like the piece of meat you are.” Kolbeck grinned.

        “I don’t think so, Oscar!”

        The sudden sound of Hotch’s voice had Kolbeck pulling Shira up as a human shield, his knife to her throat. Trying not to cry out, Shira watched as the team emerged from the forest with police backup. Hotch and Rossi were the closest, guns trained on Kolbeck.

        “Alison’s lost blood, but he bandaged her up.” Shira called to them, wincing at the pull to her dislocated shoulder and weight on her ankle.

        “Let her go, Oscar,” Rossi spoke up “you wanted to make a name for yourself, you don’t want to die before you can see it happen.”

        “I’ll be remembered forever!” Kolbeck replied, growling “the entire country will know my name!”

        “Not for long,” Hotch countered “you die, your name will be in the news for a while, but then they’ll move on.

        “Let her go, Oscar.” Hotch continued, and even in the dark, Shira could see his eyes shining in anger and fear. Shira could feel the knife pulling away, but she knew that he wouldn’t go quietly. She had to act, they needed him alive to exact justice.

        Stomped on his foot, forcing his legs apart. 

        Backwards kick to the groin to incapacitate. 

        Elbow to the nose when he let her go. 

        A punch to the face to disorient, and for her own satisfaction.

        Rossi and Hotch ran up behind her, Rossi handcuffing Kolbeck as Hotch caught Shira, removing her restraints.

        “He was going to make me watch Alison die,” she declared, shock starting to set in “then he was going to turn on me. Make me suffer like Hrafnkel in the Freysgoða. Pierce my ankles and hang me like a piece of meat…”

        “You’re safe,” Hotch promised “you’re safe, Shira. We got him. He won't be able to hurt you.”

        She let out a strangled sob, nearly collapsing from the pain of her ankle and shoulder. Yet she did her best to keep from breaking down. She couldn't let him see what he did to her. She wouldn't let Kolbeck have the satisfaction.

~

        Hotch could tell she was having trouble standing, holding onto him. He kept Shira upright, until Kolbeck was gone. Once Rossi had the man gone, Hotch led Shira to a tree root to sit down.

        “Where are you injured?” he asked, kneeling in front of her, seeing the way her left shoulder looked out of place.

        “Got roughed up a good bit,” Shira replied, quiet “when I was tied up, my hands were above me. He slapped me hard enough to send me to the ground, so the force pulled my arm from my shoulder. Twisted my ankle on the way down.”

        “I can see the bruises,” Hotch muttered, looking at the blooming red marks on her face and wrists “anything else?”

        “Just that,” she declared, shaking her head “he only got as far as taking blood from Alison, to mark the trees.”

        “We’ll get your statement after you’ve been taken care of,” he insisted, looking Shira in the eye “you’re in no condition to be doing anything else.”

        “I…I don’t think I can walk,” she muttered, cradling her left arm to her chest “wouldn’t be able to lean on you…”

        Morgan had come over while they were talking, after paramedics had taken care of Alison, standing far enough back so he could watch. Seeing the gentle way Hotch handled Shira, Morgan couldn’t help wondering at how everything had played out.

        “Alison said that she’d probably be dead, if it weren’t for you,” he spoke up, earning Hotch and Shira’s attention “said you distracted him enough that he left her alone. That was good work, Doctor.”

        “Thank you,” Shira replied, smiling tiredly “I just knew I couldn’t let him hurt her more…”

        “Save your energy,” Morgan told her, seeing how tired she was “Hotch, we can take it from here, if you want to go to the hospital with her.”

        “Keep in contact.” Hotch ordered, waiting for Morgan to nod before turning to Shira.

        “Put your good arm around me,” he told her gently “I’m taking you to the ambulance.”

        When Shira leaned in, putting her arm around his neck, Hotch an arm around her waist and one under her knees, gently lifting her and holding her close. Morgan watched as Hotch took her away, meeting with the second group of paramedics at the tree line.

        “White knight rescuing his lady,” came Emily’s voice from right behind him, causing Morgan to jump a little “she’s one hell of a woman.”

        “Perfect fit for him,” Morgan agreed, rolling his eyes at her laughter “wonder where they’ll take it from here.”

~

        To say that Hotch was beside himself would be an understatement. On the ride to the hospital, Shira had fallen unconscious. He sat unmoving in the waiting room, left there by the doctors as they checked her over.

        “Agent Hotchner?” he looked up at the sound of the doctor calling his name.

        “How is she?” he asked, standing and walking to meet the other man.

        “She passed out from the pain and adrenaline crash,” the doctor explained, smiling to reassure Hotch “we were able to get her shoulder back in place, and her ankle is being taken care of. We’ve sedated her so she can sleep the rest of the night, so she can get her rest despite her pain. Thanks to you telling us of her EDS, we were able to make her comfortable enough in the bed, so hopefully she won’t deal with any more dislocations or subluxations.”

        “Has she been taken to a room?” Hotch asked, shoulders sagging in relief.

        “She will be soon, but visiting hours will be over soon,” the doctor replied “I’ll get her room number for you, and you’ll be able to see her in the morning.”

        “Thank you.” Hotch nodded, reaching and shaking the doctor’s hand. Once he was gone, Hotch nearly collapsed into a nearby chair, elbows on his knees as his head hung low.

        Why was all of this affecting him so much? He knew her, to be sure, but not so well that he’d be so torn up about her.

        There was only one conclusion, but he couldn’t think about it. Not after what had happened to Hayley. The thought of Shira dying because of his association with her was almost too much for him.

        He had to be there when she woke up. Hotch needed to know for sure.

        Was she his soul mate?

◊

                “You come to love not by finding the perfect person, but by seeing an imperfect person perfectly.”                 – Sam Keen

∞

[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.

[mzcheechee]

#Repost @bbcnews 8-year-old Alexa is going blind and has created a list of things she wants to see before that happens. She has a rare condition called brittle cornea syndrome and can only see about a metre in front of her. But she's been told she could lose her sight at any moment. #blind #visuallyimpaired #seeing #inspiration #brave #bbcnews (at Georgia)

[embraceyourinnerginger-blog]

Brittle Cornea Syndrome