Body Bizarre is a show from TLC that once again has a name I don't really appreciate. That being said, the stories covered in this ...

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Doctor Reacts To Rarest Diseases | Body Bizarre

we're about to watch tlc show body bazaar again don't love the title i've said that time and time again with many of these shows but i think there's a lot to learn not only from a medical standpoint but from a compassion and empathy standpoint let's check it out to claudio vieira de oliveira a 37 year old with a curious condition wow there's some kind of contractures likely to be congenital but could be traumatic no one has ever been able to explain the reason i was born with this disability obviously you could see that there's deformities throughout the body hands feet the spinal cord there's some involvement and it's likely something to do with the musculoskeletal system because otherwise it looks like he's functional he's cognitively there he's telling a story his spinal column is so severely twisted that his head rests facing backwards when i was born the doctor said i wouldn't leave longer than 24 hours the doctor was wrong claudio survived happily and pain-free his parents having lost faith in doctors opinions never brought him back to the hospital wow risky obviously given the nature of this condition it's possible that in the area where this person lives they might not have medical care where they would have these answers even they would need someone very sub-sub-specialized for condition that's this this rare the fact that he's not in pain is really incredible because it looks like there's a lot of muscular imbalance that would likely result of this maybe even nerve impingements where there's pressure on the nerve and you're going to start getting abnormal sensations down the body i have never contemplated giving up maybe this strength comes from my family and friends support having a strong support system especially one from a family goes such a long way knowing that there's people who care for you as a youngster claudio was determined to get an education it's interesting looking at someone who obviously had to face a lot of challenges to use equipment that is not made for him it's not easily accessible and yet he's finding a way to persevere through it so it's important to show how adaptable the human mind can be when it is faced with a challenge the hard work paid off today claudio is an accountant wow i am someone who managed to adapt to my body i don't see myself as being different from a normal person this is his perspective and we validate this perspective we should validate this perspective and at the same time if another individual sees him and views him as different but is still very encouraging it's very fair to him kind that is also acceptable we as humans need to have a wide variety of emotions and a wide variety of opinions in terms of how we interact with the world now a person who experiences a congenital situation like his may look at it and say i wish i could change certain things about my body and get medical care in order to improve certain aspects of their lives that is totally reasonable as well he has had pain in his legs from shuffling across the hard floor see that's why i found it weird when in the beginning they said that he wasn't experiencing pain just biomechanically the way that he moves around in his position you could see that there's going to be muscular strain nerve strain ligamentous strain and skin breakdown from constantly putting pressure on certain areas of his body when i got shoes my life became much easier which makes an afternoon outing even more comfortable it's great to see his family be around him and other children especially because it teaches them from a young age that humans are different we come in all shapes and sizes and there is no perfectly normal human we're all different dr angelina acosta a medical geneticist has become fascinated by claudio's case and wants to examine him in person it's really rare to see a page with all these limitations surviving yeah because there's cardiopulmonary compromise when there's such severe deformities of the spine you need to really get a good sense of what the anatomy is like the circulation in the body because remember like we have balance center in our ears that is largely dependent on gravity but when your head is constantly in an upside down orientation it has to adapt so it's going to be interesting to investigate how that's happening what could be improved what could be learned from this this is only obviously if he wants to do that claudio agrees to see the doctor the thought of surgery scares me because i don't know what the result will be if i had surgery would it be the same claudio the city of claudia or would that be worse that's a important question to ask for any surgery that is essentially trying to figure out is medical intervention a necessary and do the benefits outweigh the risks she's eager to know what caused his deformities and sends him for x-rays that's not going to answer the question more so just show the bones within the body genetic testing is probably the way to figure that out a lot of genetic conditions don't necessarily have to occur because you inherited them sometimes there could be spontaneous abnormalities in genes that can cause birth defects or situations to even arise in adulthood claudio is surprisingly healthy and as for any medical intervention dr acosta believes it wouldn't be worth it interventions come from a need and b benefit with minimizing risk but no intervention zero unless they don't work have no risks we can say that he has after a repose multiplex congenital deposition contractures fixes [Music] any procedure that would need to happen surgery-wise would require multiple surgeons to be available at the same time you're going to need a lot of specials because there's a lot of parts of the body involved here even like a cardiothoracic surgeon would probably be wise it can be a neurological problem can be a muscle problem so it's really necessary to continue the investigation to try to confirm the diagnosis to confirm the diagnosis is really for case report purposes for research to understand it to be able to help others in the future if possible it's very unlikely that by studying this continuously they're going to be able to offer some kind of recommendation that he doesn't already have 23 year old tom stanford has been training for years to be a world-class cyclist cycling is hard i got a new bike i haven't ridden it a lot because i get tired real easy he suffers from a mystery condition that no one's ever been able to figure out he's very thin tom's strange illness has left his body unable to store fat under his skin he only has 40 percent of an average man's muscle tissue and is partially deaf again likely to be congenital because it has developed this way he didn't happen in adulthood protein disorder is up there some kind of coding protein could have a mutation in it tom seemed like a normal baby at birth and had a happy childhood he already had a unique facial structure so maybe he was predisposed to this condition by the time he was a teenager his body had completely stopped metabolizing fat leading to drastic weight loss he's six foot three and weighs only 133 pounds wow just for a comparison sake i'm six for 395 pounds right now a lot of people will forget the fact that fat is an important macronutrient and we could use it for energy and we need it to make certain hormones it's the over consumption specifically of unhealthy fats that is one of the biggest drivers of heart disease and death now he wants to go further and compete in the paralympics that's got to be hard because if you can't metabolize and digest fat you have a significant disadvantage of energy storage and breakdown because tom's medical condition is undiagnosed the sports governing body doesn't know how to classify him for competition when we look at the icd-10 classification the international classification of diseases 10 we have coding for things and you can do genetic disorder unspecified i'm sure there's a code for that icd-10 genetic disorder unspecified look at that z 15.89 genetic susceptibility to other disease that would be a code that would probably get him into the special olympics when i first met tom it was kind of a bit odd to see him for the first time in real life and that's okay to say right if something is unusual it's okay to say something unusual and be curious and kind at the same time about it pretending that something that is unusual just to ease your own discomfort may not be ideal for that even person because they want to be honest and straightforward about what's going on with them or their bodies they may take that as a sign of that you're blocking because you're feeling shame or some kind of negative emotion to their appearance because i don't store fat it remains in the bloodstream so because of this i have type 2 diabetes i'm struggling to understand exactly what his condition is because if he has an issue absorbing fat then it wouldn't enter the blood but it is entering the blood so he's having trouble processing the fat once it's already in the blood basically driving it into the cells for energy or converting it to different cholesterols and triglycerides etc there's a new technology called next generation sequencing which allows scientists to screen the whole genome this is 30 000 genes and it's equivalent to looking for a single spelling mistake amongst a library full of 30 000 books finally tom has a diagnosis mandibular dysplasia with deafness and projeroid features mdp syndrome i mean i would like to know more about the diagnosis because i mean you know just because we've labeled something based on the appearance and the other symptoms and prognosis that he's experiencing do we know yet the gene that is involved with this this is probably one of those cases where the patient is by far a bigger expert in their condition than any doctor they would go see huang who suffers from a disorder called neurofibromatosis is plagued with the largest facial tumor the world has ever seen neurofibromatosis there's multiple types i believe it's a genetic condition where there's little tumors that can form on the skin on neurological structures on your body think the eyes the brain the spinal cord by the time he was 31 huang's facial tumor weighed over 50 pounds wow the weight of the tumor damaged his spine and torso and he only reached four feet tall that's also got to be uncomfortable that that amount of pressure constantly tugging at the elastacity of your skin pulling the eyes maybe not being able to close your eye fully which can cause tearing dryness of the eye the chinese government offered to cover the expense of major facial surgery i had never seen a tumor as big as swangs in my career on a human body i was completely overwhelmed a lot of imaging has to take place here to see what anatomical structures are in the masses like is it just tumor material is it blood vessels is it nerves this was the most complicated case in the world there were no cases to use as a reference i'm surprised they wouldn't reach out to other worldwide leaders at this point there's a lot of collaboration that happens amongst doctors in rare cases where it's beneficial not only for the patient but also for the doctors to get this experience to be able to treat other patients in their home countries it's taken a team of china's best doctors over seven years and four pioneering operations to remove more than 45 pounds of tissue from huang's tumor 45 pounds that's a lot he's got a face he can live with yeah a face and a life like it takes a toll carrying that much excess weight on your face you can't enjoy daily activities and quality of life begins to suffer outside of social living just functional 22 year old amanda grice has a rare and embarrassing problem for 12 years she's been living in a permanent state of sexual arousal oh wow i lost count honestly of how many times a day i have orgasms i'd have 50 orgasms and well into the day it would be well over a hundred by that evening this type of persistent sexual arousal syndrome was documented in my video with dr rima malik where we talked about it but it's a very complex situation because a lot of things have to be taken into consideration not just physical health but psychological as well 50 orgasms a day might sound like pure pleasure but it's making amanda's life a living hell no it's not pure pleasure anything that falls outside of a balance can become quite problematic a lot of people hate pain and they say i wish i could never feel pain that would be very problematic the reason you know to take your hand off a hot stove is because you feel pain so it's a protective mechanism the reason why you your foot goes numb and you get pins and needles it's uncomfortable and you know to move it is because of pain had you not known that your foot can die so like all of these signals that can be problematic if experienced to a high degree also need to be experienced to some degree to get the benefits of them amanda is desperate for help but so far the medical community has let her down at every turn most of them are very dismissive about it a lot of doctors don't have knowledge of this disorder dismissal very disappointing that the medical community doesn't help or doesn't even want to help not knowing i could see why that could happen it's hard unless you're a specialist to know about this condition not know about its presence but know what to do and what to try what's interesting to me is there's all sorts of nerve ablation therapies that we do where basically like let's say one of your cutaneous nerves across your abdomen that come from your ribs intercostals is constantly lighting up you're having pain in that nerve and we try all sorts of treatments you could do like a nerve ablation where you essentially shut that nerve down in her case i wonder if that's possible as well or would there be other consequences to it i again would need a sub sub sub specialist help me answer that question hi amanda nice to meet you have a seat hi how are you dr eckenberg is a pioneer in understanding and treating persistent genital arousal syndrome i want to know how you become a pioneer in that i just need the answer to that question genuine curiosity on my part and believes that pgad is largely misunderstood as a sexual disorder when in fact it's more a function of chronic pain to treat that disorder he'll inject her bladder with medications to relax the muscles and ease the pain 24 hours later she's already feeling the benefits amanda will continue to have regular bladder injections which will numb her orgasms so she will only experience a few a day is it like just a lidocaine type medicine where it's a numbing agent or is it a muscular relaxing agent or even a muscle paralyzing agent that would be a botox injection into the bladder would probably be too much then again not a specialist i need more info doctors continually blame this patient's symptoms on his weight i thought otherwise so we were able to help them click here to check out that entire story and as always stay happy and healthy [Music]

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