Body Bizarre is a TLC show highlighting unusual diseases people live with around the world. Today we look at a man whose body ...

diseases-i39ve-only-seen-in-textbooks

Diseases I&#39;ve Only Seen In Textbooks

we watched another episode of the show before but it's time to check out another episode of body bizar let's get started 56-year-old fisherman and father of two Alejandro Ramos goes by the name Willie four years ago Willie suffered a horrifying accident that mysteriously transformed his body I kept swelling my arms grew to an incredible size it didn't go down he almost has the phenotype the body type of someone who who injects Synthol which is uh an artificial oil made to enlarge your muscles but it's almost like not in his muscles I was working at a depth of around5 Ft a cargo ship was coming it went over my air hose and cut my air hose into two I knew I had to surface fast I couldn't stay any longer I let go of my lead belt and got pushed up like a bullet I started to lose all of my senses I opened my eyes everything was blurry so the neurologic findings that he's experiencing is basically like divers disease or bends where basically uh nitrogen bubbles part of the inert gases that you inhale every time you take a breath start bubbling up if you inhale those gases at a depth of 100 ft those gases are inhaled at a higher pressure therefore when you go into a lower pressure environment those gases start bubbling up and imagine your blood starting to Bubble it causes serious problems usually in the neurologic system and your joints Wily's chest and arms balloon leaving his torso swollen and deformed this is a very very severe form of it like usually it's mild and usually it is treatable with 100% oxygen treatment usually in a hyperbaric chamber using a hyperbaric chamber doctors treat sufferers by having them breathe oxygen in this pressurized vessel I've seen patients who've had subaquatic illnesses and arrived completely swollen but with the hyperbaric chamber these have appeared in 1 to 3 hours yeah so he must have had more severe damage to his blood vessels as a result of that swelling where it seems to have become permanent and you know uh when you damage blood vessels and they become more permeable uh they could start to leak when those blood vessels start to leak it could actually Create Edema in the uh surrounding structures which is what he could be having it's very similar to what happens when you have age related gravity related swelling in your lower extremities in your legs you stand all day your age 60 your veins aren't as spry anymore so they're a little bit more swollen Blood starts to pull there throughout the day and as a result they become more permeable more edema comes out and as a result you have thicker ankles at the end of a long day which is why we recommend to pick your ankles up to wear supportive compression stockings etc etc Willie has had multiple sessions in a hyperbaric chamber sadly he has not returned to his normal size as a result Dr aguad decided to draw blood and take tissue samples from Willie to solve the mystery I wonder what part of the body he's actually taking samples from is it from the blood vessel the muscle the adapost fat tissue a month later Dr aguad confirms that Wily's condition was due to nitrogen being lodged in his fatty tissue the next medical step will be reconstructive and cosmetic surgery to remove the fatty deposits how in the world do they need that test in order to say like oh get cosmetic surgery and we'll fix it I'm pretty sure that would have been anyone's recommendation whether or not they knew was from the nitrogen bubbles uliana was born with congenital melan acidic neas a rare genetic skin condition that causes an overproduction of skin pigmentation cells and it not only produces melanin a lot it produces melanin a lot in specific areas so as you can tell it's not her entire skin color it's just sporadic her birth marks and dark patches of skin also made ulana sad and self-conscious that's very understandable if you're born um and you look different than everyone else around you especially as a child it's easy to get bullied and then feel like you're ostracized from your own peers uliana now posts photos of herself on social media to promote awareness of the issues faced by people with skin conditions I think that's great uh in order to highlight that humans come in all different shapes sizes colors and just because her appearance outwardly looks different it shouldn't stop her from living a full life and it shouldn't stop you from interacting with someone like this one out of 10 people with congenital melanic neas will develop skin cancer so basically when you have um a type of birth mark pop up like that essentially you're having micro mutations in those areas Because You're Having excess production When You're Having excess production that puts you at higher risk for cancerous production if I will stay at the Sun for a long time every of my small birth marks also can change to melanoma and it's really risk so that's why I need to go and check them the way that we check them is through a classification system known as a b CDE e each one represents a specific criteria that we look at a asymmetry B the borders C the color D the depth and E is evolving and basically how it changes over time that's why if you ever have a mole or or birth mark that has changed that's a good reason for you to go see the doctor and this allows us to understand what risk each of those birth marks poses to the individual if some of them are suspicious we do send them through a biopsy to pathology to figure out if they're cancerous Dr wowski uses cuttingedge digital dermoscopy equipment to photograph all of uliana's birth marks capturing their exact positions and sizes so they can be monitored for any changes in her Condition it's a lot harder to gauge changes because there are so many of these birth marks and also so like look if I have two small birth marks on my legs and one of them happens to change and we're concerned we can easily take that small biopsy but imagine she has many of them if she can't like biopsy her entire skin layer so for her it's best to do this through a non-invasive method and be strict with it like a camera this lesion is the only one on your body but it is different from the rest and it's a good idea to remove the lesion just for your own safety and then we'll assess it with histopathology so histopathologies they'll basically take a slice of it look it under a microscope and then if they do in fact see a cancer you might have to go for excision with wider margins when we say things like margins what we're actually saying is that we want to make sure that at the borders of the area that you've biopsied there's no residual cancer which means that you got the entire cancer jolson's astonishing height of 7' n makes him the tallest man in Brazil oh wow 3 years ago jolis met evam they weren't exactly a perfect match evam is just five fet tall maybe that is a perfect match perfect match doesn't mean they have to be the same height but there was an instant attraction I'm instantly attracted to that little goat thing that they have is that a goat or a puppy and the two were married within a year I love that the cake Decor is true to size at least true to proportion the couple is cons from something within his sex cells or is it his partner's your spermogram test doesn't show the presence of sperm the excessive amount of hormones that triggers gigantism can lead to a reduction in other hormones such as testosterone this has led to jolis having underdeveloped testicles this should have also been elucidated on the physical exam that should have been part of all of this workup I'm surprised that it took them finding this out on a test as opposed to a physical exam and I wonder if this condition would be correctable by giving him hormone supplementation the couple is now making plans to move forward with adoption to complete their family oh that's not a goat that's a puppy the whole time it looked kind of goaty to me on the outskirts of the city there's a boy living with a unique condition 11-year-old Lee H Lee H now weighs more than 300 lb he suffers from a rare genetic disorder called PR villy syndrome PR will you know this is interesting because this condition is not something I've ever seen in my patients but it is something that is frequently tested in medical school and on medical boards where it's a congenital syndrome where it's a chromosomal issue more specifically it not only affects hunger but also uh cognitive impairment sleep impairments many other factors uh in the development uh throughout a child's life there's no known cure for PR villy syndrome which can also cause a number of physical mental and behavioral problems his large size would put him at higher risk for development of early onset even osteoarthritis joint disease in a desperate attempt to help him lose weight Lee hang's parents are taking him to a hospital that practices traditional Chinese medicine designed to help people battling obesity he has a disorder in the feeding and satiety centers in the hypothalamus located in the brain this is true but it's a genetic issue so it's at the core of his cells the Medical Treatments here are unorthodox but doctors are licensed Medical Specialists and the hospital claims a high rate of success we will use traditional acupuncture fire therapy and fire cupping this is where I kind of start getting disconnected from the adjunctive therapies like acupuncture where we're talking about it for muscoskeletal uses for pain uses where there seem to be some evidence and then we start moving it to just general well-being or obscure cases like this where you're saying that needles can impact the neurological structure and the genetic structure of someone's brain that seems to be a little bit too far out for me to say that it matches some level of evidence-based medicine fire therapy with Chinese medicine is where we incorporate extracts of herbal medicine that help speed up metabolism we light up the medicine with fire it is especially helpful for patients with abdominal obesity finally Lee hang is given a round of fire cupping treatment I don't even know what that fire therapy is I'm not going to lie it it seems very non-evidence-based and again cupping uh in general has very weak evidence for for it but then for myofascial tightness for restrictions again muscoskeletal conditions I could see it being valuable but for someone who's has a hunger issue from a genetic condition it seems a little ridiculous to treat it with this but the doctor points out that these traditional remedies can only work if Lee hang is able to stop his excessive eating if he stops his excessive eating he will lose weight without those treatments like that's the core of the situation so I find it ridic ridiculous that they're saying that there's no foolproof scientific evidence these procedures are effective this is where patients um in situations like this are often misled because they're just searching for any type of cure where science doesn't have an answer pseudoscience and misinformation tends to thrive Mark may appear healthy but he actually suffers from one of the world's rarest disorders why is he looking at the waters so angrily I'm sure it has something to do with water I have to drink 20 L water a day to stay alive I can last without water one and a half up to 2 hours I wonder if this is a form of diabetes insipidus where he actually is either lacking or not responding to a specific hormone that prevents fluid loss excessive fluid loss through your urine this is actually an important hormone that your pituitary gland stores and your hypothalamus creates in order for you to be able to balance the amount of water in your system and that's a very tightly controlled balance I um will get very high fever and dizziness can't can't remember things and I don't not know in um extreme where I am and who I am it essentially becomes a a form of dehydration Mark suffers from the rare disorder known as renal diabetes insipidus or nephrogenic diabetes incipit the difference between that and like the cranial version of it is that the cranial version is your body doesn't produce the hormone and in renal or nephrogenic is uh for some reason it's not responsive to the hormone I wake up in the night and um then I go to the toilet and go back and sleep again so you can can say okay maybe it's 20 times a day it's important that we point out this has nothing to do with diabetes melodus which is a sugar control condition whereas this is a water retention excretion condition or water balance condition Mark's condition is very interesting it's a very rare condition unfortunately we do not have a very good treatment for those patient not to say we we cannot cure it we not even have a reasonable treatment for those patients so what can I do for you today I love that The Scene goes from him saying we have no reasonable treatment we have no cure uh but what can I do for you today my GP yeah and be found told me that um uh diuretics could be useful for me uh I believe thide class of diuretics can sometimes be be useful here diuretics normally treat high blood pressure well not only high blood pressure there are several indications for what we use diuretics for Less salt in the body could reduce the urge to urinate it's an experimental approach but Mark has nothing to lose and there's different classes of diuretics there's like a Loop Diuretics which the most common one that we we we talk about is lasic thide type diuretics that are more commonly used for blood pressure control like thalidone or hydrochlorizide after a few weeks the diuretics seem to be working Mark doesn't wake up in the night to go to the bathroom quite as often he's less tired and he has more energy to pursue a very active lifestyle always great to see some treatments working and I think that there's uh definitely progress to be made uh in these conditions check out the absolute worst medical takes on Twitter worth reading Elon Musk has mentioned a couple times this one as always stay happy and healthy [Music]

Dr.

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