Something that fascinates me is the concept of very rare but incredibly insignificant diseases.
Idk if it actually happens irl, but it woggled into my brain after reading about a supposedly super rare form of eczema. It only effects a small patch of skin and doesn't tend to have severe issues. It's just an incredibly rare inconvenience. Idk shit about eczema though so I could be remembering the story all wrong, but I still think the general concept is interesting.
No, that's definitely a thing. There are known genetic mutations that only usually cause mild, vague symptoms. They often have disorder names but geneticists debate whether it should be considered a disorder or a natural human variation. An example would be Adenosine monophosphate deaminase deficiency aka myoadenylate deaminase deficiency. Most people have no symptoms at all, if they do it's usually being more tired and sore than normal after exercise. Meanwhile, other deficiencies related to adenosine can be devastating and cause Bubble Boy Disease and more.
However, the finding of homozygous mutations among asymptomatic individuals have suggested to some (e.g., Verzijl et al., 1998) that AMPD1 deficiency may be a harmless entity (summary by Castro-Gago et al., 2011). Genetta et al. (2001)stated that AMPD1 deficiency is the most prevalent genetic disease in humans, the number of people heterozygous approaching 10% of Caucasians and individuals of African descent (Sabina et al., 1989). A small percentage of homozygous-deficient individuals, approximately 1.8% of the population, display symptoms of chronic fatigue and lost productivity as well as a predisposition to stress-related ailments, including heart disease and stroke, according to Genetta et al. (2001).
I remember learning about siamese twins as a kid. I couldn't imagine being attached to my sister when we fought or bickered all the time growing up. Now as an adult it raises so many existential questions about personhood. Obviously if the siblings have separate brain functions and personalities and everything I can see that. But it makes me wonder how they'd go about getting a state issued ID, or apply for a job, have a partner, etc. As two attached people. I have no desire to gawk at them, it just makes me wonder a lot of logistical things.
There's a movie about exactly that called Stuck on You. It's a comedy so there's a lot of silly shit, but it does explore the awkwardness of what it'd be like to be conjoined.
I follow a lot of neglected disease and infectious illness, as well as structurally-damaging. Less so the rarities and more the oddities. I'll try to post some now and then.
At risk of telling you where I've volunteered, I bring you disease that is only rare if you don't live there.
YAWS, BEJEL
Yaws is a chronic skin infection characterized by lumps of various size and ulcers. It is caused by the bacterium Treponema pallidum- the same group of bacteria that causes syphilis.
Yaws primarily affects children aged under 15 years who live in poor communities in warm, humid and tropical forested areas of Africa, Asia, Latin America and the Pacific islands. The majority of affected populations live rural areas, far from health services.
Although there are over 80 000 cases of yaws each year, experts believe the disease can be controlled and ultimately eradicated for several reasons. It is also easy to treat with readily available drugs and has already been eliminated in some countries, including India. The remaining pockets of yaws infection, although usually in remote places, means further spread is less likely with proper surveillance and control measures.
It was believed that malnutrition was a primary factor in yaws, but it's now known that infection combined with lack of access to clean water is the reason it can become severe. Many people live with minor infection and do not get secondary bacterial growth, which is the primary horror of the disease.
Yaws that is kept clean- easier to treat and cure.
MsF is working in Congo with this right now. Previously they worked in rural India too. In the middle east and Mediterranean it's known as bejel- it is the same disease process and vector. It has been found in most tropical, old-world nations, and eliminated in many. Treatment is simple, but you've got to get it to the people who need it.
So this isn't exactly the purpose of the thread, since it's just for my own personal curiosity, but I would appreciate you guys helping me crowdsource an armchair diagnosis for my creepy childhood friend.
(For context, I knew her age 8-14ish but saw her around until high school graduation.)
She was pretty short, not dwarfism-levels but I think even fully grown she didn't exceed 5ft. She had a lot of "weird" autistic-like habits, like constantly clearing her throat obnoxiously loudly and chewing/picking her nails down to almost nonexistent stubs. She was remarkably unintelligent and gullible, and (at least in elementary and middle school) was exclusively in the blended classes where special ed students and a couple of aides were in with the normal kids (the other people in this program ranged from mostly normal autistic kids, to nonverbal autistics who had accidents in the middle of class, to kids with CP who were probably normal intelligence but needed physical help). Along with this, she was extremely boy-obsessed but focused mainly on whatever the Disney Channel celebrity of the day was, and she truly honestly believed she had a chance of a romantic relationship or even marriage well past the age where this was appropriate. She was very sexual (I found her twitter from age 12-13ish that was full of celebrity kink roleplay) and tried to solicit kinky photos from myself and another mutual friend when we were in 8th grade.
According to my parents and mutual friends, her only diagnosis was ADD, but we all got the impression there was more than that going on. She had two siblings (despite her family being Catholic), both female. Her older sister was normal afaik (she didn't want to hang out with kids, understandably). Her younger sister seemed intellectually normal, but had a bit of a speech impediment, and really small eyes that needed multiple surgeries over the time I knew her.
My guess would be Turner syndrome, except for two things: she had very large breasts, even in elementary school, and she did have a period. Other than that she fits the phenotype almost exactly.
Seriously, that photo looks almost exactly like her.
Again, this is just from personal curiosity. I no longer know her or her family and have no intent on changing that. It's always been something I wondered about and just never had answers for.
So this isn't exactly the purpose of the thread, since it's just for my own personal curiosity, but I would appreciate you guys helping me crowdsource an armchair diagnosis for my creepy childhood friend.
(For context, I knew her age 8-14ish but saw her around until high school graduation.)
She was pretty short, not dwarfism-levels but I think even fully grown she didn't exceed 5ft. She had a lot of "weird" autistic-like habits, like constantly clearing her throat obnoxiously loudly and chewing/picking her nails down to almost nonexistent stubs. She was remarkably unintelligent and gullible, and (at least in elementary and middle school) was exclusively in the blended classes where special ed students and a couple of aides were in with the normal kids (the other people in this program ranged from mostly normal autistic kids, to nonverbal autistics who had accidents in the middle of class, to kids with CP who were probably normal intelligence but needed physical help). Along with this, she was extremely boy-obsessed but focused mainly on whatever the Disney Channel celebrity of the day was, and she truly honestly believed she had a chance of a romantic relationship or even marriage well past the age where this was appropriate. She was very sexual (I found her twitter from age 12-13ish that was full of celebrity kink roleplay) and tried to solicit kinky photos from myself and another mutual friend when we were in 8th grade.
According to my parents and mutual friends, her only diagnosis was ADD, but we all got the impression there was more than that going on. She had two siblings (despite her family being Catholic), both female. Her older sister was normal afaik (she didn't want to hang out with kids, understandably). Her younger sister seemed intellectually normal, but had a bit of a speech impediment, and really small eyes that needed multiple surgeries over the time I knew her.
My guess would be Turner syndrome, except for two things: she had very large breasts, even in elementary school, and she did have a period. Other than that she fits the phenotype almost exactly. View attachment 3001365
Seriously, that photo looks almost exactly like her.
Again, this is just from personal curiosity. I no longer know her or her family and have no intent on changing that. It's always been something I wondered about and just never had answers for.
I wanted to say it's something else, considering how the only mental retardation that comes with Turner's Syndrome is an lack of spatial reasoning and an ineptitude with mathematics. But it's kind of hard to pin it down to much of anything without her freaking out over something mundane. As it is, this sounds like an weird case of OCD and her losing the genetic lottery.
Again, this is just from personal curiosity. I no longer know her or her family and have no intent on changing that. It's always been something I wondered about and just never had answers for.
But it's kind of hard to pin it down to much of anything without her freaking out over something mundane. As it is, this sounds like an weird case of OCD and her losing the genetic lottery.
She did actually have a huge public freakout once. She posted the link to a charity event, I commented something along the lines of "hey this charity actually is known to be shady and not support the people it claims to support, maybe don't recommend people support it?" Her first reaction was flat-out denial, so I posted a couple of links to back me up. She kept up the denial, saying I was wrong, the research was wrong, (charity) is wonderful and so good and has never done anything bad, I'm a bully for saying she was wrong, etc. I stopped engaging, she continued her weird defense, I eventually got tired of her freak-out and told her to just fucking drop it. She then tried to get our teacher involved and get me in trouble with the school for bullying (our teacher humored her and threatened me with expulsion, the administration laughed at it). She'd also freak out, get legitimately angry/upset, and go into deep denial if you so much as hinted that she was a child/teenager and did not actually have a real chance of marrying Justin Bieber/Harry Styles/whoever.
Yeah, that's why I said it would've been my guess other than that. Are there disorders with a similar phenotype but not affecting sex characteristics? Or is she most likely just a garden-variety exceptional individual who looks really unfortunate?
Yeah, that's why I said it would've been my guess other than that. Are there disorders with a similar phenotype but not affecting sex characteristics? Or is she most likely just a garden-variety exceptional individual who looks really unfortunate?
I personally cannot think of any other disorder that would fit her, but there are so many disorders that exist in the world. It is a high chance though she was just really unfortunate in the rolls of genetics.
Yeah, @Vampyroteuthis infernalis that sounds pretty close to being autistic. But as for what's physically wrong with her; well, it could range from eating the same type of junk food to her mom drinking while she was pregnant.
Of course, it could also be comorbid with something else. Just not Prader-Willis because that is an completely different can of worms that involves an lot of food.
So this isn't exactly the purpose of the thread, since it's just for my own personal curiosity, but I would appreciate you guys helping me crowdsource an armchair diagnosis for my creepy childhood friend.
(For context, I knew her age 8-14ish but saw her around until high school graduation.)
She was pretty short, not dwarfism-levels but I think even fully grown she didn't exceed 5ft. She had a lot of "weird" autistic-like habits, like constantly clearing her throat obnoxiously loudly and chewing/picking her nails down to almost nonexistent stubs. She was remarkably unintelligent and gullible, and (at least in elementary and middle school) was exclusively in the blended classes where special ed students and a couple of aides were in with the normal kids (the other people in this program ranged from mostly normal autistic kids, to nonverbal autistics who had accidents in the middle of class, to kids with CP who were probably normal intelligence but needed physical help). Along with this, she was extremely boy-obsessed but focused mainly on whatever the Disney Channel celebrity of the day was, and she truly honestly believed she had a chance of a romantic relationship or even marriage well past the age where this was appropriate. She was very sexual (I found her twitter from age 12-13ish that was full of celebrity kink roleplay) and tried to solicit kinky photos from myself and another mutual friend when we were in 8th grade.
According to my parents and mutual friends, her only diagnosis was ADD, but we all got the impression there was more than that going on. She had two siblings (despite her family being Catholic), both female. Her older sister was normal afaik (she didn't want to hang out with kids, understandably). Her younger sister seemed intellectually normal, but had a bit of a speech impediment, and really small eyes that needed multiple surgeries over the time I knew her.
My guess would be Turner syndrome, except for two things: she had very large breasts, even in elementary school, and she did have a period. Other than that she fits the phenotype almost exactly. View attachment 3001365
Seriously, that photo looks almost exactly like her.
Again, this is just from personal curiosity. I no longer know her or her family and have no intent on changing that. It's always been something I wondered about and just never had answers for.
Yeah, @Vampyroteuthis infernalis that sounds pretty close to being autistic. But as for what's physically wrong with her; well, it could range from eating the same type of junk food to her mom drinking while she was pregnant.
Of course, it could also be comorbid with something else. Just not Prader-Willis because that is an completely different can of worms that involves an lot of food.
I won't PL here but I will say I haven't met anyone autistic who is quite similar to her. Plus she's just physically very odd. You know how your brain can subconsciously sort of register if something is "off" with a face? She just hits some sort of signal.
Looking off of this, here's what I personally see physically:
* Round face
* Widely spaced eyes
* Smooth philtrum
* Smooth cupid's bow
* Stumpy hands (not a medical term)
* Sandal gap (gap between big toe and others)
* Downturned mouth corners
Her younger sister (the one with medically tiny eyes) also has those facial features, the older sister and mom look normal.
I won't PL here but I will say I haven't met anyone autistic who is quite similar to her. Plus she's just physically very odd. You know how your brain can subconsciously sort of register if something is "off" with a face? She just hits some sort of signal.
Looking off of this, here's what I personally see physically:
* Round face
* Widely spaced eyes
* Smooth philtrum
* Smooth cupid's bow
* Stumpy hands (not a medical term)
* Sandal gap (gap between big toe and others)
* Downturned mouth corners
Her younger sister (the one with medically tiny eyes) also has those facial features, the older sister and mom look normal.
I won't PL here but I will say I haven't met anyone autistic who is quite similar to her. Plus she's just physically very odd. You know how your brain can subconsciously sort of register if something is "off" with a face? She just hits some sort of signal.
Looking off of this, here's what I personally see physically:
* Round face
* Widely spaced eyes
* Smooth philtrum
* Smooth cupid's bow
* Stumpy hands (not a medical term)
* Sandal gap (gap between big toe and others)
* Downturned mouth corners
Her younger sister (the one with medically tiny eyes) also has those facial features, the older sister and mom look normal.
Honestly, I would not be surprised if it was FAS. It's more likely than some rare genetic disease, and the mom does kind of seem like the type to be a functional alcoholic.
Mystery solved I guess! Thanks Kiwis.
Batten Disease
(3:100,000 births; UNLESS of Scandinavian/Northern European Descent they are 1:25,000)
Batten Disease is a term used for about 13 disorders of certain genes that leads to dementia and neurodegeneration in children and adolescents. Though this name used to only be used for the juvenile onset, it has now been used to categorize this type of genetic disorder across the life-span. Children with the infantile or late-infantile forms usually show symptoms earlier than age 1 year, though some forms are before age 5 and some even by age 15. The most common symptoms is vision loss followed by seizures leading to loss of skills and dementia. The dementia itself leads to mental health issues in the children which include personality changes and anxiety. They soon are blind, unable to communicate, bedridden and lose all cognitive functions. The life expectancy is usually death by early childhood for those with infantile/late-infantile form though those with childhood onset may live to their teens or 30s. Adult onset development of the disorder tends to be milder and does not effect life expectancy.
Only one type has any treatment which is an enzyme replacement therapy for CLN2 disease which can slow or stop progression of symptoms. Seizures can sometimes be reduced or controlled with anti-seizure drugs in forms that do not include intractable epilepsy. Physical and occupational therapy may help those with the disease retain function as long as possible.
The known types of the disorder include:
CLN1 disease, infantile onset
Symptoms are seen before age 1 and progress rapidly.
Developmental skills (standing, walking, and talking) are either are not achieved or are gradually lost.
Seizures by age 2 and eventually become blind and may require tube-feeding.
Majority of children by age 3 become completely dependent on their caregivers.
Most affected children die in early to mid-childhood.
CLN1 disease, juvenile onset
Symptoms are seen by age 5 or 6
Same symptoms and progression as infantile, but slower.
Most affected children die by early to mid-childhood.
CLN2 disease, late-infantile onset
Developmental delay begins around the end of age 2.
Seizures and gradual loss of the ability to walk and speak and will require feeding-tube at some point.
By age 4-5, constant myoclonic jerks.
By age 6 most children are completely dependent on their caregivers
Most children will die between the ages of 6–12 years.
CLN2 disease, later-onset
Symptoms begin by age 6 or 7.
Ataxia (loss of coordination) may be initial symptom.
Same symptoms as Late-Infantile, but with disease progression.
May live into teenage years.
CLN3 disease, juvenile onset (ages 4-7)
Rapidly progressive vision loss begins between ages 4 and 7.
Learning and behavior problems, dementia and seizures around age 10.
Parkinsonism begins by teenage years with speech and language issues.
Most die between the ages of 15 and 30.
CLN4 disease, adult onset
Begins in early adulthood (ormally around age 30.
Causes problems with movement and early dementia with slow progression.
Does NOT cause blindness, while other forms do.
Age of death is variable, including normal life expectancy.
CLN5 disease, variant late-infantile onset
Loss of skills and development of behavior problems during toddlerhood.
Seizures and myoclonic jerks between ages 6 and 13.
Vision deterioration and is eventual blindness
Learning disabilities and problems with concentration and memory.
Death by late childhood or teenage years.
CLN6, variant late-infantile onset
Symptoms vary among children, but typically start after the first few years of life.
Developmental delay, changes in behavior, and seizures.
Loss of skills for walking, playing, and speech.
Development of myoclonic jerks, problems sleeping, and vision loss.
Death by late childhood or teenage years.
CLN6, adult onset
Symptoms occur in early adulthood.
Epilepsy, inability to control muscles in the arms and legs, and slow but progressive cognitive decline.
CLN7, variant late-infantile onset
Developmental delays begin after a few years of what seems to be a normally-developing child.
Epilepsy between the ages of 3 and 7, along with problems sleeping and myoclonic jerks.
Loss of the ability to walk, play, and speak.
Rapid advancement of symptoms seen between the ages of 9 and 11.
Death by late childhood or teenage years.
CLN8 disease with Epilepsy with Progressive Mental Retardation (EPMR)
Symptoms begins between ages 5 and 10.
This includes seizures, cognitive decline, and behavioral changes. Loss of speech occurs in some individuals.
Seizures become very intermittent after adolescence. Loss of speech occurs in some individuals.
Individuals can live into adulthood.
CLN8 disease, late-variant onset
Symptoms begin between ages 2 and 7.
This includes loss of vision, cognitive problems, unsteadiness, myoclonic jerks, and behavioral changes.
Treatment-resistant epilepsy and a marked loss of cognitive skills by age 10.
Loss of ability to walk or stand unassisted.
Uncertain life expectancy with some children living to their early 20s.
CLN10 disease (Congenital Form)
Seizures may occur before birth and after birth seizures may not respond to treatment.
Problems with breathing that can progress to respiratory failure.
Obstructive sleep apnea.
Possible Microcephaly.
Death shortly after birth or within the first weeks of life.
CLN10 disease (Late-Infantile Form)
Symptoms begin soon after birth in most cases with a later onset and slower disease progression.
Possible microcephaly.
Seizures and progressive problems with vision, balance, and intellectual skills.
Years ago, I saw a group of girls hanging out on a corner, and one of the girls had her eyes on the sides of her head like a horse. Her head was kind of narrow horizontally. The other girls were treating her like, well, one of the girls, including her in their games etc. She didn't seem to be mentally challenged, as far as I could tell.
