genetic-disorder

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On July 9, 1989, Patricia Stallings and her husband David Stallings rushed to the hospital with their three-month-old son Ryan Stallings after he had been experiencing difficulties with breathing and vomiting for at least two days. The test results reportedly showed that Ryan’s blood contained high levels of ethylene glycol, one of the main ingredients in antifreeze. The Pediatrician who treated Ryan suspected he had been poisoned by either Patricia or David Stallings. Eight days later, Ryan was released from the hospital and placed in a foster home due to the suspicion that his parents might be responsible for the pain little Ryan had to endure. During the time Ryan lived in foster care, the Stallings’ contact to their son was very limited and they were allowed to visit him for one hour one day per week. In September, 1989 three days after Patricia was left alone with Ryan for a brief period of time, he was hospitalized again and died a short time later. She was arrested the following day after Ryan’s death. Unbeknownst to Patricia at the beginning, she was pregnant again and while being in jail awaiting trial, Patricia gave birth to the couple’s second son, David Jr. After being placed in a foster care home, David Jr. displayed the same symptoms the first son of the Stallings’ did, although David Jr. met the criteria for a rare genetic disorder called MMA in which the body can’t properly process certain types of proteins and fats and produces methylmalonic acid, which is identical to the chemicals found in antifreeze. He was treated and fully recovered. However, when Patricia was tried, the judge didn’t allow Stalling’s attorney to present the theory that Ryan’s cause of death wasn’t because of antifreeze poisoning, but MMA. She was convicted of first degree murder and assault and got a life sentence. Months after the sentencing, the case was featured on a show called “Unsolved Mysteries” which biochemist William S. Sly of St. Louis University happened to see. He tested Ryan’s blood and eventually proved that Ryan suffered from MMA. Piero Ronaldo of Yale University also confirmed that the cause of death was indeed MMA. In July, 1991 Patricia was released from jail. On September 20, 1991, all charges were dropped and prosecutors apologized to the Stallings family and on the same day their second son, David Jr, was finally given to his parents.

Why Mutants In X-Men Are a Great Analogy for Neurodivergents

I’m gonna look at it from an autism perspective but most of it applies to pretty much all neurodivergents, I think. :)

1. Autism is a mutation. Technically, we are mutants already.

What is a mutation? A variant form of a gene, which can be genetically passed on. 

What is autism at its core? A variation in brain thinking patterns and cognition which can be genetically passed on.

Ergo, we autistics (along with our neurodivergent brethren) are mutants.

2. They are misunderstood and judged based on their mutation.

How many times have you seen someone arrested for killing/trying to kill someone and they mention “Oh, he’s autistic” as if it had anything remotely to do with anything. 

How many times have you heard about how burdensome a child with autism is and how they’re such a burden that they’re the reason their parents break up.

How many times have you heard someone say that autistics are broken because they don’t “function properly”.

3. They are told their mutation needs to be “cured” even though the vast majority of mutants are against it.

Rogue: Is it true? That they have a cure?

Professor X: Yes, Rogue. It would seem so.

Storm: No. No it’s not, ‘cause there’s nothing to cure. Nothing’s wrong with any of us, for that matter.

———————-

Doctor: I just wanted to help you people.

Quill: Lady, does it look like we need to be saved?

4. They have to live in the closet out of fear of being treated differently if anyone finds out they’re mutants

There’s a reason why as soon as I was old enough to understand, my mom (who’s also autistic) taught me to NEVER tell anyone because they’ll treat me differently for no reason and judge me based on that 1 aspect of who I am rather than my actions and beliefs; that they’ll see me by my disorder rather than me as a whole person.

How many of us hesitate getting officially diagnosed based on the fear that it’ll affect our job prospects and/or relationships with people.

How many doctors don’t officially diagnose us because they’re “afraid it’ll have a negative effect”.

5. They have special abilities due to their mutation.

Heightened empathy, hypersensitivity, higher IQ, being able to break down highly complex systems in our minds instead of writing or drawing it out,  image/pattern/verbal thinking, being able to notice problems neurotypicals would never notice, etc  might not be as cool as flying or controlling the weather, but they’re special abilities nonetheless.

6. Their mutation is often a double-edged sword.

All our special abilities have their pros and cons, just just like the mutants’s powers.

Top 10 Things I really wish people would understand about autism

1. Autism is CLEARLY an autosomal recessive genetic trait that is not effected by gender, class or race. (meaning black women are just as likely to be autistic as white boys people!) This also means autism doesn’t just magically go away at age 18; it is  forever.  Negative symptoms of Autism can get better or worse by learning coping strategies or getting more overwhelmed physically and mentally.


2. There is no way vaccines could cause autism; even if autism wasn’t a genetic trait, which it is!


3. Being autistic means you are smarter, have an overall higher cognition level of most things/a higher I.Q. ,not lower compared to most people.

Autistic people tend to be far more creative, intelligent, strong willed and honest then the average person.


4. If a person cannot speak this doesn’t mean that person can’t hear you, understand you, or that they are incompetent or unintelligent.


5. Being “socially stupid” does not mean that you are stupid at everything else.


6. Some Autistic kids really need home school and some really need the push for more social interaction in public school.


7. The main “problem for autistic people” isn’t “behavior issues” it’s communication issues and having a nervous system that makes the person 10 times more sensitive then the average person which is mentally and physically overwhelming.


8. Because autistic people are so overly sensitive to everything, people need to realize things that are just a little harmful for all people like :

dust, pollen, gluten, high sugar diets, sound pollution, light pollution, florescent lights, everyday chemicals

are horrible for autistic people and can cause them to be so overwhelmed they cannot speak/ are in extreme discomfort daily.


9. Because autistic people are so overly sensitive to everything, people need to realize things that are just a little good for all people like:

building ramps instead of stairs to houses, living in a clean, quiet, peaceful environment. Using pet therapy, swimming therapy, occupational therapy, seeing a councilor once in awhile, brushing therapy, weight therapy, having a very comfortable bed, eating and exercising correctly, being your own best advocate

can REALLY help any autistic person be so much happier, healthier and independent.


10. Sometimes a parent and autistic child can do everything right and an autistic child will still not be able to be independent, safe alone, will still be in agony and cannot speak. Until we recognize that the main problem for Autistic people is a hyperactive nervous system and address this scientifically there will be little hope of change for these people.

One of the only pictures of then, Mayte Garcia-Nelson pregnant with Prince and her’s son, Amiir Nelson. (Arabic for Prince)

Sadly, Amiir was born with a rare genetic disorder and died 6 days after birth. He was cremated.

Unfortunately, Prince burned everything and anything that reminded him of his dead son.

Mayte laid in bed with Amiir’s ashes for weeks. —Maytes memoir debuts April 4th—

Xeroderma pigmentosum is an autosomal recessive disorder that results in the skin’s inability to repair damage caused by ultraviolet light. This results in symptoms such as severe sunburn, development of excessive freckles, cry skin, blisters and corneal ulcerations. One of the most common causes of death in people with Xeroderma pigmentosum is skin cancer - specifically metastatic melanoma and squamous cell carcinoma.

I’m a mutant, I guess.

I’d always known that my tentative diagnosis of myasthenia gravis was… tentative. Meaning, because of elements of my personal and family histories, there’s always been a suspicion that I (and other living family members) might have a form of congenital myasthenia. Complicating things of course, is the fact that there have been recent discoveries of hereditary myasthenia that is autoimmune.

So… normally the way they classify myasthenia is into two basic categories:

  1. Myasthenia gravis, which is more common, not generally hereditary, and is caused by an autoimmune disease. Autoimmune diseases happen when your immune system mistakes part of your body for a dangerous foreign invader and attacks it. For instance, in Hashimoto’s disease (which runs in my family, but I don’t have any sign of it — yet, anyway), your immune system attacks your thyroid. In multiple sclerosis, your immune system attacks the protective myelin covering around your nerve cells. And in myasthenia gravis, your immune system attacks the neuromuscular junction, which is the area where the nerve meets the muscle.

  2. Congenital myasthenia. Congenital myasthenia is genetic and hereditary, and is not autoimmune. With congenital myasthenia, you’re born with at least some degree of the problems inherent in any kind of myasthenia. Sometimes it stays mild throughout your life, and sometimes it gets worse over time (or suddenly worsens and stays worse), and sometimes it starts out very obvious and stays very obvious. Congenital myasthenia is rare. Some forms of it are so rare that each family that has the condition has it from a totally unique genetic configuration that are not found in other families.

And recently, they have discovered that there are some forms of myasthenia that are both inherited and autoimmune. I don’t know a lot about genetic autoimmune diseases, but I assume it works a lot like Hashimoto’s in my family, where many of the biological women in one branch of the family seem to develop it at some point in their lifetimes, but at what time some event triggers it into becoming active, varies greatly. Like, one person might get a totally ordinary virus at the age of twenty, that somehow triggers their immune system along with whatever genetic predisposition they have, to attack their thyroid. But in another person, the same sort of thing happens, only in their fifties. So there’s the gene that determines a body is going to react this way to certain physiological events, but which physiological events trigger the onset of the active disease varies. Understand, I’m not a medical professional, this is just how I’ve heard it described by relatives and by other people with hereditary Hashimoto’s in their families. I don’t know if all forms of hereditary autoimmune disease work this way. And hereditary myasthenia gravis is barely being discovered right now, so there’s a lot they don’t know.

Meanwhile, there’s a lot they don’t know about congenital myasthenia because there just aren’t a lot of people who have it.

Anyway, until now, we’d been in one sort of unknown territory with my diagnosis. Now, we seem to be in a completely new sort of unknown territory. Lots of unknowns here. Nothing is certain, even my genetic testing provides as many questions as answers. (And no, I’m not going to go into details about what testing I’ve had. That information is private.)

So anyway, to clear up some confusion… myasthenia gravis refers specifically to autoimmune myasthenia. Congenital myasthenia is the term for non-autoimmune, genetic myasthenia. I don’t know WTF they’re going to call hereditary autoimmune myasthenia — congenital myasthenia gravis, hereditary myasthenia gravis, hereditary autoimmune myasthenia, WTF? As I said, no clue. Anyway, a lot of people just refer to all myasthenia as myasthenia gravis and abbreviate it to MG. This is because most people have only heard of MG and not of congenital myasthenia, even people who are diagnosed with MG. And because congenital myasthenia is rare enough that often support groups for all people with all kinds of myasthenia have MG as part of the name and people with congenital myasthenia are welcome, but people are just used to saying MG when they mean myasthenia in general.

So… I’ve gotten genetic testing. And I do have a rare mutation in a gene associated with one form of congenital myasthenia. My symptoms, now and throughout my lifetime, are well within the range of case reports I’ve read about this variety. Only thing is, so far they’ve only studied people with myasthenia who have two copies of the gene, and have not studied people with only one who have myasthenia, so they’ve assumed that two copies are required. My doctors think it would be way too unlikely a coincidence for me to have traits consistent with congenital myasthenia, other immediate family members with these traits as well, and to have a mutation in this gene, and have that all just be random coincidence with no relation to each other just because I only have one copy of the gene. So their working hypothesis is that, as with other recessive conditions, most people with one copy would not have symptoms, but some people, me probably included, have myasthenia from only one copy, but simply not as severe as it would be if we had two copies. They say this sort of thing happens with other recessive conditions, that genetics can be more complicated than a layperson’s view of them can make them out to be, and that… yeah, it would just be an ultra-weird, or more like close-to-impossible coincidence for me to have a rare mutation that’s usually connected with a disease I and several close relatives have symptoms of (and diagnostic testing and response to meds both showing we have neuromuscular junction problems) and have been diagnosed with, and then, for those things to just be two totally unrelated random things that have nothing to do with each other. So current hypothesis is that I have incompletely expressed congenital myasthenia.

This means I get to go off of the immune suppressants I was on (and it was scary being on something that’s normally a transplant rejection drug), and may never have to go on plasmapheresis. Meanwhile I will be switched to a treatment regimen more consistent with the recommendations for congenital myasthenia. Until proven otherwise, we’ll assume I have congenital myasthenia. Which, to me, suggests that the evidence for congenital myasthenia is now pretty strong, because most people with myasthenia, me previously included, are treated as if we have myasthenia gravis unless there’s a definite reason to believe otherwise. This is because myasthenia gravis is way more common therefore more likely. Even knowing it seemed to run in my family, they were using myasthenia gravis as the working hypothesis. So for them to change their minds suggests to me that, while we may never know exactly what’s going on (being realistic, the research may never catch up to people like me within my lifetime, if what we suspect is true), there’s strong evidence at this point for congenital myasthenia, strong enough to justify changing all my meds around.

So if you ever hear me saying I have myasthenia gravis, it’s probably just force of habit. Probably the most neutral term I could use is just myasthenia. But I do strongly suspect congenital myasthenia now, and so do my neurologist (who’s well-respected both by doctors and patients, and seems better at teasing out difficult diagnoses than most, because he just methodically goes through every possibility, even remote ones, rather than leaping to conclusions) and my GP (also very well-respected by both doctors and patients). It’s just not the sort of thing we’ll necessarily be able to prove. Especially since, as my neurologist pointed out, they haven’t even found all the genes for congenital myasthenia, not even close, just as they haven’t found all the antibodies involved in myasthenia gravis. Congenital myasthenia would also explain, though, why I (and family) tests positive for myasthenia on single-fiber EMGs but show no sign of the usual antibodies found with MG.

Anyway, either way, I appear to be a mutant. But having muscles that go floppy with exercise doesn’t seem like much of a superpower. Oh well.

I also appear to be weirdly panicky when I think about all this too directly. I’m not sure why. It’s not like anything’s changed. But something about this is feeling like one of those “Shit, my entire view of huge chunks of my entire life is totally different now and I’m going to be sifting through this information for a long time.” And for whatever reason, that kind of thing can be mind-blowingly terrifying at times. I can’t even read about congenital myasthenia right now, it’s one reason I’m relying on memory for a lot of my facts, so don’t 100% trust what I say about all the different kinds of myasthenia and stuff, I’m going entirely on memory. When I first got the test results back, I was able to read just enough to realize I fit more of the congenital myasthenia profile than I thought I did (there’s nothing all that unusual about my personal history, for someone with congenital myasthenia), but since then I haven’t been able to stand looking at the research or even summaries of the research, without freaking out.

Fibrodysplasia ossificans progressiva (FOP) is a progressive genetic disorder that turns soft tissues into bone over time. The ACVR1 gene found in bone, muscles, tendons, and ligaments regulates growth and development of those tissues, and is normally responsible for turning cartilage into bone as children develop. However, mutations of this gene can allow ossification to go unchecked throughout a sufferer’s life, even turning skeletal muscle into bone and causing joints to fuse together.

This disorder occurs in about 1 in 2 million people, and there are currently no treatments or cures. Trauma exacerbates the condition, so attempts to remove bone surgically just results in the body producing even more bone in the area.

Angelman Syndrome

Angelman syndrome is caused by the loss of the normal maternal contribution to a region of chromosome 15, most commonly by deletion of a segment of that chromosome. It is a neuro-genetic disorder characterized by intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor.

An older, alternative term for AS, happy puppet syndrome, is generally considered pejorative and stigmatizing so it is no longer the accepted term, though it is sometimes still used as an informal term of diagnosis. People with AS are sometimes known as “angels”, both because of the syndrome’s name and because of their youthful, happy appearance.

Those with the syndrome are generally happy and contented people who like human contact and play. People with AS exhibit a profound desire for personal interaction with others. Communication can be difficult at first, but as a child with AS develops, there is a definite character and ability to make themselves understood. People with AS tend to develop strong non-verbal skills to compensate for their limited use of speech. It is widely accepted that their understanding of communication directed to them is much larger than their ability to return conversation. Most afflicted people will not develop more than 5–10 words, if any at all.

Unfortunately there are no known cure.. Although there are studies being done right now, it is far from human testing.

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Click on them to see the full pics. I have a rare genetic mutation, called cleidocranial-dysplasia, and I do mean rare, only about 500 people in the world have it. I don’t have collar bones (as evident in the weird pics above), I will always be short (4'10"), I had to have 3 surgeries to bring all my adult teeth in because my baby teeth would not fall out on their own, and therefore had 3 years of either my front top, front bottom, or all my back teeth missing for a year at a time due to surgeries and bringing my adult teeth through my gums using braces and gold chains attached to my adult teeth still up in my gums. I will never be able to have a normal conventional birth if I have children, I will have to have a c-section because it is impossible to have a baby pass through the area inside my hips. I also have scoliosis because of this disorder, had to wear braces on my hips when I was a baby (I only stopped wearing them cuz I was a little shit that figured out how to take them off) and I have a large rib cage. The only life threatening part of my specific case was that the bones in my head were not even close to knitting together. In short, I had a soft spot. In normal babies, the soft spot closes in the first year of life. Mine didn’t fully close til I was 10 years old. I was my moms first child, and therefore a difficult birth. They used the vacuum type thing to finish pulling me out of her birth canal. On my head. With the HUGE SOFT SPOT. They almost sucked my brain out. Haha but don’t worry, I’m ok now. Since this is so rare, I thought I’d blog about it and let people know about something interesting and new! I’m not ashamed, and I don’t try to hide it. I’m proud and think that this has made me stronger. <3

Results & Respite

E’s echo came back looking good today. They did say she had a very tiny hole in her heart, but they were unconcerned and said that it should close on its own by the time she is two years old. They still want us to go to her eye appointment which is scheduled for 12/10 to ensure that she doesn’t have Marfan Syndrome. If that checks out, then we are in the clear. Good news for now!

On my way home from the big city, I connected with the foster mom that has the infant born a few days before E. We are going to watch her on Wednesday afternoon for a few hours so the foster mom can continue in her cribbage club. It will give us a feel for whether or not we can handle both girls. The foster mom did report that “G” is fairly fussy so we’ll see how it goes.

anonymous asked:

K sorry but that anon about King Tut "a warrior king who died in battle"?? Thats just wrong. Tut died of ILLNESS, boy had a genetic bone disorder, club foot, malaria n broken bones. SUPER unlikely that he was ever CLOSE to a battle, esp in the months b4 he died. If him n Atem are similar its cuz they took the throne/died young, in a time of turmoil, had to rely on older advisors, etc. Not saying Takahashi didn't do his research but like come on. Tut as a "warrior king" is just not good history.

right so I admit my knowledge of Egyptian history is kinda lacking but I just went looking this up and yeah, true, Tut didn’t die in battle. Thanks for the information

anonymous asked:

Your view on healthcare makes it seem like every illness is diet related. What if someone becomes ill through no fault of their own? Not everyone is able to understand nutritional information or knows how to separate the truth from marketing BS. I hate paying for other people's medical expenses too, but not as much as i hate the thought of someone suffering through a slow painful death because they can't afford medication or treatment.

The fallacy is that medical insurance is medical care.  Medical care is a scarce resource & GOOD medical care is an even scarcer resource.  If we clean out all the dietary fork & knife suicide diseases then people with the conditions you are talking about, people in accidents, acute injuries, rare genetic disorders can get the best help possible with a larger pool of resources, availability & research $.

  Everyone else is acting supremely selfishly taking up so much ER / Dr / $ supply for helping people with simple poor dietary choices.  The USDA Dietary Guidelines are good enough, they put it up to all of us to make the SHIFTs in our communities.  If you watch the video we did on it you can make a difference.  We are working our asses off to create a tipping point on dietary disease that can no longer be ignored.  

Quick fact. Ready?
Muscular dystrophy is a genetic disorder in which a specific contractile protein, known as dystrophin, gradually degenerates. However, all of the other contractile proteins are still present.