Medical Mysteries: Conditions and cases that have baffled doctors

I borrowed from MSN. Call center agents, check on Fatal Familial Insomnia below. It says, just a single night of missed sleep, you can expect a day of blurred vision, difficulty concentrating and gastrointestinal distress. Just read on.

I will continue posting health related articles and success tips. Note that health and success go hand in hand. Succes is nothing if a person is sickly. We can do it!

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By Rich Maloof for MSN Health & Fitness

© KUSA-TV/MSNBC

The human body is a fantastically intricate system. Even with some of the finest minds on the planet exploring the depths of its complexity, our anatomy still holds many secrets. We are reminded of how little we really understand when strange abnormalities arise. Here is a brief look at nine remarkable—and tragic—mysteries that have stymied modern medicine.

Phineas Gage

A View Into the Brain

© Courtesy of Harvard medical School/AP

In September 1848, railroad foreman Phineas Gage was packing sticks of dynamite into a rock with a heavy tamping rod. The dynamite exploded, sending the 3-foot 7-inch iron rod through his left cheekbone—and out the top of his head. Incredibly, his crewmen found him fully conscious and coherent, eager to get on his feet. He was rushed to Dr. John Marlow, who inserted fingers through Gage’s head and face, touching them together, before patching up the scalp and cheek flesh of his miracle patient. Gage recovered completely.

Doctors marveled that he survived at all. But the great contribution to science came with the realization that Gage later became a more violent and angry man after the front part of his brain had been traumatized. Never before had personality been identified with a specific part of the brain. The discovery paved the way for future understanding of brain functions.

Gage ran through our minds again in 2005 when construction worker Patrick Lawler fell down a staircase carrying a nail gun. Talk show audiences were amazed to see a fully recovered Lawler describing X-ray images of a 4-inch nail standing upright above his jaw. Lawler had used Advil to put off a “toothache” for six days before he realized there was a nail in his face.

Fibrodysplasia Ossificans Progressiva

The Second Skeleton

© Najlah Feanny/Corbis

Though FOP is extremely rare, cases have been documented as far back as the 17th century. More than 300 years later, physicians are still at a loss to explain what causes soft tissue in FOP patients to turn to bone.

The earliest sign of FOP is malformed toes, such as the toes of a little girl shown here. But the real damage is done in the coming years as muscles, tendons and ligaments in the neck, back and shoulder ossify. Connective tissue in the knees, hip and elbow can also turn to bone, locking limbs permanently in position. Attempts to surgically remove the new bones results in even more bone formation.

Unfortunately, it gets worse. Although people with FOP can live into their 70s, the disease is progressive, as the “progressiva” part of the name indicates. More FOP bones grow over time, often in response to injury. With an “extra skeleton” growing in the body, the FOP patient finds it ever more difficult to move.

Synesthesia

Sensorial Crossroads

To be expressive with language, we often use metaphors that borrow from the senses: Earth tones are “warm,” and a brass section sounds “bright.” For people with synesthesia, the crossing of senses is not metaphorical but literal. Synesthetics may hear colors, see sound or smell numbers. Dr. Richard Cytowic, author of The Man Who Tasted Shapes, undertook his study after a friend cooking dinner exclaimed that “there aren’t enough points on the chicken.”

Synesthesia is not considered to be a disease (though it has not been well studied, either) and tends to affect people who are bright and colorful—er, that is, people who are intelligent and creative.

Congenital Erythropoietic Porphyria

Hypersensitivity to Light

© Jim Bryant/AP

Fewer than 200 cases of congenital erythropoietic porphyria have ever been documented, and not just because physicians can’t pronounce the name. Due to a gene mutation, the skin becomes extremely sensitive to sunlight. Areas of exposed skin can become blistered and infected. Sunlight exposure can also lead to scarring, changes in skin pigmentation and increased hair growth. Such symptoms have unfairly linked people suffering from the condition with the lore of vampires and werewolves. On overcast or very cold winter days, the symptoms of congenital erythropoietic porphyria (also called erythropoietic protoporphyria) are sometimes attenuated, allowing some safe exposure to indirect sunlight.

Lithopedion

The Stone Baby

© Simon Kwong/Reuters

It sounds horribly tragic, but the rare medical phenomenon of the stone baby results from a process that protects a woman after a failed pregnancy.

When a fertilized egg attaches anywhere outside the uterus (an abdominal or ectopic pregnancy), the fetus may begin to grow but cannot survive. Under very rare conditions the miscarried fetus is neither expelled nor reabsorbed. Instead, it calcifies—effectively turning to “stone”—which protects the mother from infection.

Lithopedions have been mistaken for benign tumors or ignored by mothers who may not even have known they’d been pregnant. In one case, surgeons found a stone baby in a 76-year-old woman who had apparently been carrying it for 50 years.

Trimethylaminuria
Fish Odor Syndrome (a.k.a. Stale Fish Syndrome or TMAU)

If you think the odor of rotting fish is offensive down on the docks, imagine it on your breath. The same chemical that causes stale fish to smell bad, trimethylamine, is naturally derived from our diet, and the body’s normal metabolism is supposed to break the chemical down. When it does not, as is the case with TMAU sufferers, the buildup is eventually excreted through urine, saliva and perspiration. Cruelly, the chronic condition tends to worsen around puberty. While there are no inherent physical dangers associated with TMAU, there’s no cure and the social and psychological toll on adolescents and adults can be devastating.

Morgellons

A Real Case of Creepy Crawlies?

© Rich Pedroncelli/AP

The Centers for Disease Control and Prevention have yet to recognize Morgellons as a legitimate disease, but there is no doubt for the 7,500 people nationwide who are plagued by a crawling sensation on their skin and intensely itchy lesions. The description of Morgellons is not entirely unlike scabies or lice, both of which are parasitic conditions. But the real head-scratcher is the appearance of mysterious fibers that seem to grow under the skin. Skeptics, noting that most Morgellons sufferers also experience cognitive or behavioral problems, have suggested the condition is psychological. But they’re at a loss to explain the documented finding of these strange fibers (shown here at the tip of a pen) that apparently bear no relation to cotton, wool or synthetic fibers. The Morgellons Research Foundation continues to urge the CDC to assign an investigative task force.

Fatal Familial Insomnia

When Can’t Sleep Kills

Lose just a single night’s sleep and you can expect a day of blurred vision, difficulty concentrating and gastrointestinal distress. In 1959, disc jockey Peter Tripp deprived himself of sleep for more than eight days as part of a publicity stunt, and he became paranoid, incoherent and believed he saw kittens and bunnies at his feet.

For the world’s handful of families with this type of insomnia, the symptoms are progressively and exponentially worse. Their continued lack of sleep leads first to panic attacks, then to hallucinations, then to full-on dementia. Eventually, they die from lack of sleep.

In the 28 families identified, a dominant gene leaves offspring with a 50 percent chance of acquiring the disease. FFI was first diagnosed by an Italian doctor in 1979, and it was nearly 20 years before scientists understood that it was caused by a mutated protein. The mutation leads to a buildup of plaque in the part of the brain that regulates sleep.

5-Alpha Reductase Deficiency

Nature’s Sex Change

The Intersex Society of America estimates that one of every 2,000 American children are born with an intersex disorder, so defined when one’s sexual anatomy does not fall neatly into the male or female category. 5-ARD is one such condition, and is due to an in utero complication with how a male fetus’ system uses testosterone. As a result, the newborn baby has male chromosomes but tends either to have “ambiguous genitalia” (male pseudohermaphroditism) or the genitalia appear to be that of a baby girl. During puberty, however, testosterone rages through the body and the male characteristics emerge: The voice drops, shoulders broaden and an Adam’s apple may start to develop. What appeared to be labia turn out be testicles, and what appeared to be a clitoris turns out to be a penis.

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15 Comments

  1. Jennifer said,

    January 14, 2013 at 11:27 pm

    Hello I’ve been browsing around and looking for answers.Seeing as others have posted here, I will do the same in hopes someone can help.I have a dear family Friend.She is only 22 years old, has an amazing husband and a beautiful baby boy who just turned 1.About 6 months ago she started having nausea only when she was eating.Then it got to the point where even water would make her gag.Now its gotten to the point where every few minutes she’s vomiting. We’ve gone to several different hospitals in the region, and they all tell her its in her head.That maybe she’s depressed. Now i thought it was funny because my uncle just passed from pancreatic cancer, and that’s how he started.He went through several physician’s telling him nothing is wrong or telling him the issue is somewhere else. They had found after stage 3 that it was his pancreas.He deteriorated after battling for a few months.It was too late. I don’t want that to happen to her because people refuse to help.If anybody knows any place or anybody who specializes in bizarre cases and are willing to help please respond.Time is ticking on her and at this point we have nothing to lose except her.

  2. Brenda Gordon said,

    December 17, 2011 at 12:37 pm

    To whom it may concern;
    Hello my name is Brenda Gordon I am writing in hopes of finding someone who can help my beautiful niece and her darling son Jeremiah was born he was (we thought) a healthy happy little boy. He was until about age three, this is when he began to almost slip slowly back into infancy. He grew and learned just like any other normal 3 year old, until one day my niece noticed something just wasn’t quite right and she took Jeremiah to see the doctor. Where she would be told that little Jeremiah’s brain was for some unknown reason had began shrinking! No known cause. No known cure. He went from an average 3 year old to at present and 8 year old who can’t speak but one word sentences. He knows what he wants to say however getting his brain to put his little thoughts into words, has became harder and harder for him. He was potty trained but now can no longer control his bladder or bowls and since has to wear a diaper again. It is so frustrating not knowing how to help. Yesterday he was back in for more testing and after his test were completed the doctor tells my niece “well we’ve done all we can from here on we will just continue to monitor him”. What thats it just give up? That has NEVER been an option for us! We refuse to just give up! If there is anyone with any knowledge of this horrible tragedy that our family is facing or anyone who can help us I beg of you PLEASE HELP Jeremiah and his mommy! Thank you and god bless you all. Jeremiah’s Great Aunt Brenda.

  3. Ben Shepard said,

    May 5, 2010 at 5:11 am

    To the people looking for medical help or resolve for their conditions seek out a Auriculotherapist or a physician that practices using Auriculotherapy. http://www.electrotherapy.com could provide a doctors name for the area of the state your living in.

  4. Tiffay said,

    April 19, 2010 at 11:30 pm

    To whom it may concern,

    My name is Tiffany Anthony Let me tell you a little bit about myself, I’m 26 and for 10 years from the age of fifteen when my menstration started, I have suffered from cronic abdominal and back pain along with fatigue and some days extreme body aches, the only conclusion that anyone has ever given me is I have endometriosis and chronic Kidney stones, but this is my dilemma. I have had 3 Laperoscopies no active endometriosis just adhesion’s attaching my bowls to my colon and side walls each time, and the last time the doctor said since it was attached to my bowls he wouldn’t remove it. I have also done the Lupron therapy but no such relief. Honestly I don’t think that is the problem. With the kidney stones I started having them when I was 15 and pass about 3 a year and the older I get I produce more and more, my husband is military so last year I had 12 kidney stones removed from a Urologist on the base , and have already passed 4 since and produced another. The other thing is I have had a bowl obstruction also in the past 3 months, and I feel like I’m falling apart. My Potassium levels have been low also for the past 6 months at least. I have been in Pain Management for 9 months and now have been dismissed from the practice because I told them the oxycodone they have been giving me was not doing it unless I took 2 every 4 hours and that was more than they allotted me to take, and all my urine test came back negative for the medication which is imposable because I took all the medication, and I’ve heard of instances where your body does not absorb the medications like it is supposed to. I’m at my wits end with this I just want to be out of pain and don’t know what else to do, no one can give me answers and no one is willing to listen or help me anymore. Please if you can help I would really appreciate it. I’m living in Dover Delaware at the moment my husband is stationed here and I’am willing to try almost anything at this point because the older get the worse it gets. Thank you for you time.

    • jerry said,

      February 14, 2011 at 11:10 am

      tiffany, i know a girl with abdominal distension and pain…the pain has been going on for over 15 years and the distension started almost a year ago. She has had all sorts of workups performed. She has pelvic floor dysfunction but the therapy has not helped. The doctors have subscibed different medicine over the years but it hasn’t helped…
      have you had any luck wiht your pain? Thank you and we wish you well.

  5. July 2, 2009 at 7:41 am

    [...] Felicissima)  [...]

  6. Felicissima said,

    January 4, 2009 at 6:31 am

    Hello Daniel. Thanks for the visit. “Felicissima” is an Italian word. It means real joy. Please check “Why Felicissima” under “Pages” at the left column. Thanks! Paul (Felicissima’s author)

  7. Daniel said,

    January 1, 2009 at 9:38 am

    I was just researching some Disorders when I noticed the name “Felicissima.” And I just have to say that that is a GREAT name in that it is directly latin. I literally translates (As Feminine) to say: “Most favored (blessed) by the Gods.”

  8. felicissima said,

    October 28, 2008 at 1:43 pm

    Hi Jennifer. I regret to inform you that I am not inclined into medical field. So I may not be able to give you feedback regarding your condition. Thanks for visiting my site.

  9. jennifer said,

    October 25, 2008 at 2:44 pm

    Hi, I may be at the wrong site, but I have been looking up everything I can find on different anomalies to see if there’s anything I can find that relates to me. I found nothing so far. I have a nice long list of things that are wrong with me that no doctor has ever been able to link to anything. For one thing I am having double vision in one eye. I have been to a specialist and they said every test of their’s came back normal. I have been to many specialist, neuroligists, and many different types of genetisists and no one has ever been able to tell me anything. So you are the first site that has allowed me to say something. If anyone has anything for me it would be very helpful. I feel like one of those people on “mystery diagnosis” but they haven’t figured anything out for me yet. Please respond back if you can. Thanks,
    Jennifer.

    • Cindy Thibodeaux said,

      January 3, 2013 at 2:25 pm

      Jennifer, you said a nice long list of things. Have yourself checked for heavy metals. Double vision is one of the many symptoms.

  10. morgellons said,

    August 15, 2008 at 9:51 am

    Morgellons is a skin disorder that was first described more than 300 years ago. The disease is characterized by fiber-like strands extruding from the skin in conjunction with various dermatologic and neuropsychiatric symptoms. For support: http://www.morgellons-disease-research.com/

  11. January 22, 2008 at 6:52 pm

    [...] The untold mysteries… [...]

  12. Prichard said,

    November 29, 2006 at 1:11 pm

    If you are interested in Morgellons Disease or experience Morgellons symptoms, I would like to invite you to participate in the Morgellons Disease Information Community and Message Board at morgellonsite.com


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