Semi-Custom Sex preference: Male Likes (Max of Ten): Celestial themes, winter, mythology, cool colors, jewel tones, glow, sumi-e Dislikes (Max of Ten): Spiders, entrails, eye raepy color combinations
Questionaire
Without looking it up, what comes to mind when you hear "Moyamoya"?: The sound of a ritualistic chant. Or a sports cheer. Can't decide whether it sounds mostly Yiddish, Spanish, Polynesian, or stereotypically "tribal". What disease/illness/syndrome has affected your family the most? : A number of health issues, but Alzheimer's and other things that play havoc with your brain once you hit a certain age; my mother's family has a bad habit of developing the symptoms of those sorts of problems right as the earliest research is coming out, and absolutely cannot save them. Like Alzheimer's in the late 1970s, when medicine was beginning to realize that Alzheimer's wasn't just about people getting old and "senile" as part of a natural process of aging. Or my late grandmother slowly developing aphasia over the course of years, and eventually losing her memory, which is so heartbreakingly rare that I've very nearly never heard of it outside the family. D8 What is an Orphan Disease?: A disease known to affect less than 200,000 people in the US alone, usually too rare to be considered profitable.
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OPTIONAL FOR BONUS TICKET Educate me on one of the Orphan Diseases out there
Disease Name:Pycnodysostosis, also known as Toulouse Lautrec Syndrome How rare is it?: Thought to affect 1 in 1.7 million people Summarize what it's like: This genetic disorder causes short stature, unusual hardening and increased density of the bones, as well as increased frailty of the bones. Bones get broken easily, often in the same spots, and the way the proteins work in the bones cause toxins to build up in them, instead of breaking them down to allow for healthy bone growth. It's also poorly understood, with well under 500 cases known in the world's medical literature, and there may be more people with the disorder who either currently go unrecognized, or are still unrecognized posthumously.
Semi-Custom Sex preference: Female Likes (Max of Ten): Glowing, stars, wings, bows, hoods, cute things, nature, fantasy, crystalline, animals Dislikes (Max of Ten): Exposed innards, demonic/occult symbols, spiders, needles, too much blood, eyeless, too spooky, tentacles
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Without looking it up, what comes to mind when you hear "Moyamoya"?: This just may be the fact these are husky Walkers, but Japanese 'Mush Mush' in Japanese comes to mind. What disease/illness/syndrome has affected your family the most? : Heart disease or cancer, I would say What is an Orphan Disease?: It is a condition that affects fewer than 200,000 people nationwide, at least in the United States (the number differs for different countries).
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OPTIONAL FOR BONUS TICKET Educate me on one of the Orphan Diseases out there
Disease Name:Autosomal dominant hyper-IgE syndrome (Or Job Syndrome) How rare is it?: Affects fewer than 1 per million people. Summarize what it's like: This is a syndrome that affects many different parts of the body, especially the immune system. They suffer from such things as recurrent infections, pneumonia, eczema, recurrent skin infections, issues with the bones (such as osteopenia), issues with the teeth such as baby teeth staying in past when they should), and other things. Most cases are caused by the mutation of the STAT3 gene, which has a big role in the immune system.
mindsend
Thanks Mind!
Posted: Tue Oct 23, 2018 1:09 am
Moyamoya? Isn't that a type of Fish?
[b]Shi Berry[/b]| 1, 2, 3
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Semi-Custom Sex preference: Male Likes (Max of Ten): Fluff, wisps [fur, smoke, hair, whatever - just wispy things], blood, glow, teeth, tattered wraps, jewelry, grins, bones, naturals + accent colors Dislikes (Max of Ten): Hypodermic needles - related to medical procedures, clowns, tentacles, spiders, insects, kitsch, anatomically incorrect gore
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Without looking it up, what comes to mind when you hear "Moyamoya"?: If I'm being entirely frank, there is an excellent sushi restaurant close by [my personal favorite in the area, and it has been since I was in high school... years ago] called "Momoyama," and I keep misreading/mishearing "Moyamoya" as "Momoyama" [I even keep instinctively typing "Momoyama" instead of "Moyamoya..."]. What disease/illness/syndrome has affected your family the most? : Depression, stemming from what seems to be a vein of undiagnosed/ignored mental illness [depression, bipolar disorder, or some kind of related affliction] in one side of my family. What is an Orphan Disease?: In the US, it is a rare condition that affects less than 200,000 people or is a common disease that afflicts populations in developing countries [and is not a prevalent problem in the US]. These conditions are largely under-researched and new drugs are not developed for them since there is little monetary gain for the pharmaceutical industry, so they do not invest in researching, developing, and/or marketing medicines for these conditions.
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Disease Name:Ollier Disease How rare is it?: About 1 in 100,000. Summarize what it's like: This is a disorder caused by spontaneous genetic mutations - it is not an inherited disorder, though it is a disorder with a genetic basis. These mutations occur very early in life, though typically manifest in toddler years.
The results are multiple enchondromas, cartilaginous cysts that form in bone marrow, which hinder growth in the affected bones. The bones are typically shortened and prone to fractures. People with this condition tend to be short, have limb deformities, and underdeveloped muscle. These people also have an increased risk for some cancers. Enchondromas, though benign at first, may become malignant and develop into bone cancers.
This condition does not affect lifespan, and, depending on the deformities and management [surgical intervention] of this condition, people can typically maintain function of their limbs and bodies.
Thank you for this opportunity. I am glad to hear that you are on the road to better health, and I wish that it only improves for you in the future!
Semi-Custom Sex preference: Female Likes (Max of Ten): Animal print, Brights, Neons/Glow, Elegant, Swirls, Jewelry, Fuff, Stars/Galaxy, Feathers Dislikes (Max of Ten): Muddy colors, ALL pastels, chartreuse, brown/naturals without bright colors, reptiles, bugs, gore
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Questionaire
Without looking it up, what comes to mind when you hear "Moyamoya"?: Some type of bizarre animal? Like one of the new species we keep finding in the rain forest or deep sea? What disease/illness/syndrome has affected your family the most? : Diabetes. My dad is a type 1. I think my mother always feared one of her three kids would get it, generally it skips a generation though...so fun. I've never liked needles...because there's a box of them that lives on our living room table. What is an Orphan Disease?:A rare disease.
Posted: Tue Oct 23, 2018 3:15 am
Moyamoya? Isn't that a type of Fish?
[b]Epine de Rose[/b]| 2, 1, 3
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Semi-Custom Sex preference: Male Likes (Max of Ten): Beetles Butterflies Rainforests Flowers City Skylines Cloudy Nights Dislikes (Max of Ten): Centipedes Millipedes Gore Neon Colours
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Without looking it up, what comes to mind when you hear "Moyamoya"?: I legitimately thought it was a celebratory festival for a Hawaiian or Tongan tribe. e_o;
What disease/illness/syndrome has affected your family the most? : On my mother's side there are a lot of dietary ailments - my Grandmother suffered un-diagnosed diabetes for 60 Years. Her diet had always been so good that no one realised it until she got cataracts in both eyes and they ran her bloods for other health checks.
Similarly my grandfather suffers from Coeliac Disease and experiences odd growths along the tendons in his hands that require frequent operations to stop his hands seizing up so they're clawed and can't move (unfortunately I'm not sure WHAT that particular condition is called).
My parents can't really handle lactose either!
We're fairly open in my family about illnesses, especially when several of them are long term and require us to keep half an eye on people for signs that something might not be well with them... I generally don't mind talking about them as it can be helpful to people when they're feeling unsettled.
What is an Orphan Disease?: A condition that affects fewer than 200k people worldwide. Surprisingly, this includes diseases that some of us may have heard of with including Tourettes and ALS.
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Disease Name:YVS (Yunis–Varon syndrome) How rare is it?: Only 15 Cases have been reported around the world since 1980. Summarize what it's like: This disease is a genetic one and is inherited through recessive genes. The majority of cases have resulted in children having incomplete or completely missing bones such as shoulder blades, facial features and collar bones.
Most infants born with the disease have severe feeding problems, heart defects and difficulty breathing.
A family can have several healthy children (that are carriers, or completely immune depending on the gene transfer) and then be subject to having a child that's very unwell.
It's not a pleasant disease and the majority of these children don't survive passed their first year.
I sincerely hope you're doing much better and continue to improve, what you went through sounds terrifying and I wouldn't wish that on anyone. Here's to a speedy recovery and the opportunities to pursue the things you enjoy again. (I'll skip the rollercoasters though, not an avid fan myself!)
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Questionaire
Without looking it up, what comes to mind when you hear "Moyamoya"?: Something Hawaiian What disease/illness/syndrome has affected your family the most? : Heart disease is a major issue in my family on both sides. And I'm not free of it either. What is an Orphan Disease?: An orphan disease is defined as a condition that affects fewer than 200,000 people nationwide.
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OPTIONAL FOR BONUS TICKET Educate me on one of the Orphan Diseases out there
Disease Name:Andersen-Tawil Syndrome How rare is it?: The exact incidence or prevalence of the disorder is unknown. More than 100 cases have been reported in the medical literature. Because many cases go undiagnosed or misdiagnosed, determining the true frequency of Andersen-Tawil syndrome in the general population is difficult. Summarize what it's like:Andersen-Tawil syndrome is defined by three main features (i.e. a clinical triad), specifically periodic paralysis, arrhythmias and heart abnormalities, and distinctive physical features. However, the disorder is highly variable and not all affected individuals will develop all three of these characteristic symptoms.
Posted: Tue Oct 23, 2018 9:24 am
Moyamoya? Isn't that a type of Fish?
[b]whoan[/b]| 3, 1, 2
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Semi-Custom Sex preference: CC Likes (Max of Ten): snakes, grey dogs, rose quartz, stars, techno, forests, dungeons and dragons, undertale, video games, flower crowns Dislikes (Max of Ten): yellow, bugs, intestines, bright sunlight, religion
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Without looking it up, what comes to mind when you hear "Moyamoya"?: Hawaiian food What disease/illness/syndrome has affected your family the most? : I have Familial Mediterranean Fever which my birth parents both carried the gene for. What is an Orphan Disease?: A rare disease effecting less than 200,000 people.
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Disease Name:Pinta How rare is it?: Rare with around 150,000 cases in the usa Summarize what it's like:Pinta is an infectious tropical disease caused by the spiral-shaped bacterium (spirochete) known as Treponema carateum. It forms colored legions on the body.
Whoan
Sparkly Waffles
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stormflower
Fanatical Shapeshifter
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Posted: Tue Oct 23, 2018 1:00 pm
Moyamoya? Isn't that a type of Fish?
[b]stormflower[/b]| 1(semi), 2, 3
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Semi-Custom Sex preference: umm...F but totally down if you're vibing more of a male Likes (Max of Ten): Geisha, Asian flare(japanese or chinese), Space, glowy, sparkly, jewelry, Kimonos, Flowers, Bells Dislikes (Max of Ten): drap(bleh colors), overly bright things, green, muddy colors
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Without looking it up, what comes to mind when you hear "Moyamoya"?: A childs(usually) brain condition or tumor What disease/illness/syndrome has affected your family the most? : I have Degenrative Disk Disease and had surgery when I was just 19(diagnosed at 16). From my surgery the degeration of the disks has moved up on my spine and I will eventually need another lumbar fusion but for now Im doomed to take pain meds to deal with my pain, but others have much worse to deal with -hugs- Glad everything has been going good for you!! What is an Orphan Disease?: Condition that typically affects fewer than 200,000 people...such as Cystic Fibrosis
OPTIONAL FOR BONUS TICKET Educate me on one of the Orphan Diseases out there
Disease Name:Job Syndrome How rare is it?: Affects fewer than 1 per million people Summarize what it's like:Autosomal dominant hyper-IgE syndrome (AD-HIES) can affect several body systems, primarily the immune system. Can cause recurrent infections and those affected can have recurrent cases of pneumonia. Can also affect bones and teeth as well as other parts of the body and many with the condition have skeletal anomalies.
Posted: Tue Oct 23, 2018 3:13 pm
Moyamoya? Isn't that a type of Fish?
[b]Nikkichomp[/b]| 1, 3, 2
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Semi-Custom Sex preference: Female Likes (Max of Ten): Tentacles, bones, extra body parts (eyes, mouths, tails, legs, horns, etc), super weird mouths (wrong shape, wrong place, etc), big hair, feathery/wispy legs, distinctive markings, trees, antlers, wings Dislikes (Max of Ten): Neon, spider parts, insect legs, bald ponies.
Questionaire
Without looking it up, what comes to mind when you hear "Moyamoya"?: A song What disease/illness/syndrome has affected your family the most? : Combination of Chiari malformation and Ehlers-Danlos, hypermobile type What is an Orphan Disease?: A disease which affects 200,000 or less people, or which is only treatable by medications which are expensive or do not exist with FDA approval due to little-to-no research into them
Semi-Custom Sex preference: Female Likes (Max of Ten): Bones,Night time,crystals,stars,spider webs,yokai,Monsters,butterflys,Demons,Multiple eyes Dislikes (Max of Ten): Clowns,tumors
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Without looking it up, what comes to mind when you hear "Moyamoya"?: A haunted tale kids tail around the campfire about some monster What disease/illness/syndrome has affected your family the most? : Heart disease What is an Orphan Disease?: a classification for Diseases that affect less two hundred thousand or less people.
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OPTIONAL FOR BONUS TICKET Educate me on one of the Orphan Diseases out there
Disease Name:Dandy Walker syndrome DWS How rare is it?:1 in 10,000 to 30,000 newborns Summarize what it's like: It is a deformation of the brain that causes issues such as,partial paralysis ( in lower limbs ), muscle stiffness, and rarely hearing and eye sight problems. other sub types of this caused organ failure.
Posted: Tue Oct 23, 2018 4:16 pm
Moyamoya? Isn't that a type of Fish?
[b]Sabin Duvert[/b]| 1, 3, 2
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Semi-Custom Sex preference: CC
Likes (Max of Ten): Creepy (but in this instance, with a good heart) fanglies anything Marvel shadows demons wolves/werewolves Tentacles Sumi-e Monsters Ghosts
Dislikes (Max of Ten): clowns, boils, kitchy, buck teeth human fleshtone as the fur color yellow as a main color
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(The first one is a piece I just finished the other day) and lbr if you've seen the new venom movie, using that as inspiration for a charmed purewalker would be fun for personality purposes - used to want to eat everything and rule the world - but they've gotten better XD
Questionaire
Without looking it up, what comes to mind when you hear "Moyamoya"?: A way that the blood vessels in the brain don't fully deliver the blood - so it looks like puff of smoke on an MRI
What disease/illness/syndrome has affected your family the most? : Right now, filling this out, I just got back from an ultrasound of a lump on my neck. It's been there for a long enough time I was worried about it, and found out it's a lymph nod with "abnormalities" and the next stage is likely a biopsy, but currently waiting to hear back from my actual doctor for options and chances. Not gonna lie, I'm really worried right now. This is the first time I've written this down.
What is an Orphan Disease?: a rare disease that affects less than 200,000 people in the world total.
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OPTIONAL FOR BONUS TICKET Educate me on one of the Orphan Diseases out there
Disease Name:Visual Snow Syndrome How rare is it?: Unknown - it has been diagnosed within the last 5 years, and limited case studies has impaired research. Compounding the difficulty is psychotropic drugs that can mimic the affects or patients being told that nothing is wrong with them that has hindered diagnoses. Summarize what it's like:A condition that affects the entire field of vision, making spots of distortion like static or "snow" on a TV. It is chronic and debilitating to the livlihood of those suffering from it.
Sabin Duvert
Winter Trash
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LydaLynn
Nebula Dragon
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Posted: Tue Oct 23, 2018 5:21 pm
Moyamoya? Isn't that a type of Fish?
[b]LydaLynn[/b]| 1, 2, 3
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Semi-Custom Sex preference: Male Likes (Max of Ten): Manned Wolf Egypt Roman Norse Celtic Ancient pantheons Copper Wire wrapped Lightning Yggdrasil Dislikes (Max of Ten): Eyerape color combinations Exposed internal organs Asymmetrical growths Evil
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Without looking it up, what comes to mind when you hear "Moyamoya"?: the Atlanta anime convention MomoCon What disease/illness/syndrome has affected your family the most? : MS - my mom has MS and it's affected us all alot. I'm actually with her in the hospital right now. What is an Orphan Disease?:
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A condition that affects fewer than 200,000 people nationwide than200,000 people per nation
OPTIONAL FOR BONUS TICKET Educate me on one of the Orphan Diseases out there
Disease Name:Lymphocytic colitis How rare is it?: It's not actually an orphan disease. A population-based study found the incidence of microscopic colitis to have increased significantly from 1.1 per 100,000 persons in the late 1980s to 19.6 per 100,000 persons by the end of 2001. But it's a rare disease I have so I thought I'd share. Summarize what it's like:Miserable. Basically regular diarrhea.
Posted: Tue Oct 23, 2018 6:51 pm
Moyamoya? Isn't that a type of Fish?
[b] Daemongabrielle[/b]| 2,1,3
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Semi-Custom Sex preference: Lady Likes (Max of Ten): rainbows, baby pink, candy, fantasy, clouds, nature, sea/ocean, animals, roses, jellyfish Dislikes (Max of Ten): horror, gore, scary movies, trolls, unliberated house elf's, darkness,
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Without looking it up, what comes to mind when you hear "Moyamoya"?: Japanese candy or food What disease/illness/syndrome has affected your family the most? : Mental illness. My mom and dad both have had their issues, and I my self struggle with depression and anxiety. What is an Orphan Disease?: a disease that leaves orphans. Generally suddenly. Also known a widowmaker,.
Semi-Custom Sex preference: male. Likes (Max of Ten): bones, armor, spirits, crystals, body horror, occult imagery, demons, space, horns, glows. Dislikes (Max of Ten): overly bright colors, clashing colors.
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Without looking it up, what comes to mind when you hear "Moyamoya"?: hello. my name is inigo moyamoya. you killed my father. prepare to die. What disease/illness/syndrome has affected your family the most? : cancer. What is an Orphan Disease?: a disease that affects less than 200k people nationwide.
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OPTIONAL FOR BONUS TICKET Educate me on one of the Orphan Diseases out there
Disease Name:job syndrome, aka autosomal dominant hyper-IgE syndrome. How rare is it?: there's been more than 200 cases reported in medical literature since its discovery in 1966, but it gets misdiagnosed or simply unrecognized enough to where there's no real way to tell how common it is. additionally, while it's present during infancy, sometimes symptoms won't show until adolescence or even adulthood, making it harder to identify. Summarize what it's like: an immunodeficiency disease that's most commonly known for eczema, recurring lung infections/pneumonia, staphylococcal skin abscesses, a high number of eosinophils in the blood, and high serum levels of IgE. also includes skeletal and connective tissue abnormalities and bone fractures as a result of just about any kind of trauma.
