Doctor Reacts To Rarest Diseases Ep. 2

I always learn a lot from my patients, but we are about to see patients with very unique health conditions. Let's get started, it's not easy because he has one of the

rarest

medical conditions on the planet, which is Gem Housing Syndrome which he had never heard of. It's a muscle condition where the muscles get very tight, that's how I get stiff because they're always working this kind of abnormal muscle tone that I've seen in older people with dystonia and maybe even parkinsonism. He had never seen it in a young man, Owen's father, he noticed that his son did not move like other children.

Owen saw eight

doctor

s in eight months. That's why at every pediatric visit, which is a physical exam, we look at developmental milestones and see how the child is developing, because in many cases we can do early intervention, whether it's adding a hormone, physical therapy, behavior modifications to help. kids to reach their full potential, he has persistent muscle contraction and you look at some who like Owen, who looked like a little pocket Hercules, he has incredible muscle definition and That's really because he knows he has isotonic contractions all the time. time. It's amazing that he has this contraction.

Imagine how you feel when you have a cramp and imagine that it runs through your entire body. That is the difficulty this boy faces in the small town of Scheidelberg. In Austria lives a teenager with a very rare genetic condition. Raphael's skin grows extremely fast and turns into confetti-like scales. Oh, is this achintosis? My condition is called ichthyosis or fish scale disease and I have had it since I was born. It's really unfortunate that in the Maybe it's relatable to the medical community, especially when it comes to pathology, we name things after foods or animals and it can be quite problematic for patients because they have to say that they have a skin disease. of fish or they like confetti confetti like that, it's not ideal for someone to say that.

Confetti ichthyosis has been reported less than 20 times worldwide. It causes abnormal amounts of keratin in the outer layer of the skin. The way it heals the way it works is on the epidermis, which is the top layer of skin that is constantly shedding. of the skin and new skin cells emerge and that's the way the skin normally works, so if you actually taste the dust inside a house, a lot of it is made up of human skin and although you can't see it, it's happening. All the way back in 2008, Raphael's mother discovered an unusual solution to treat her son's condition.

Oh interesting, removing excess skin from Raphael at 6:30 every morning. He is lowered into a specially made tank containing 300 skin-eating fish. Wow, I've seen pedicures like this where they make the fish chew on the dead skin, this doesn't hurt either because they slough off the dead skin cells so it doesn't cause any discomfort, at least I don't think it was worse before, no I could move so much and it was harder to clean the scales this is so much better for me and he's feeding the fish it's like a win-win situation a true symbiotic relationship Oh, Thomas and Vincent's helmet might look like something out of a movie science fiction, but it has been developed by a team of

doctor

s and designed to protect them from certain death as Thomas and Vincent approached their second birthday.

Reddish marks appeared on his cheekbones. Reddish marks on a small child like that don't necessarily indicate a clear picture of what's happening; They must be located inside. a lot of different differentials, such as possible diagnoses, and only through a very thorough history, a thorough physical exam, and some lab work, can you begin to narrow down exactly what is happening, we develop small cancers, for example, I had one here on the lip, we had others on the arms and face that we had to get rid of. The twins were diagnosed with zeroderma pigmentosum known as XP, which gave their skin a potentially fatal hypersensitivity to ultraviolet light.

For individuals with XP, the risk of cancer will increase 10,000 times that of a normal or average person, so if you do not protect yourself from UV rays, your cancer risk is almost certain. We are both scientifically educated and quickly came to the conclusion that the only possible solution at the time was to protect them from UV rays and hopefully supplement them with vitamin D since sunlight is needed to convert vitamin D to its active form. through the kidneys, so yes, vitamin D supplements will be important for them. Augustanopoulos, in the north of Brazil, is the home of a girl who became rare, there have only been 50 reported cases since the Middle Ages wow, that is very rare congenital hypertrichosis or werewolf syndrome again with the terrible name of conditions like stop calling it werewolf syndrome in the first place there is no such thing as a werewolf no one is proud to carry that label and that stigma associated with Let It Go, two-year-old Camilli D'Souza lives with the same affliction today in day, first of all with hypertrichosis, where there is excessive hair growth, which can occur in many different ways, such as even the hershitism that can come with polycystic ovary syndrome. hair that grows in unusual places for a woman that you normally see on a man, but there are other cases where you see it grow everywhere and that is terminal hair, so it will be darker and thicker instead of that fuzz of peach that sometimes never falls. a human being since he is born as a child, he is normally supposed to fall out, so there is no medicine that can make hair fall out.

Laser treatment is the only option. Doctors start with a test of the laser to see how it works. The skin will also react since your skin tone is a little darker. There could be risks of hypopigmentation. Burns. Successful removal of all hair will mean hundreds of treatments. In many situations like that, what the laser does is heat the hair. follicle and you actually destroy it and the more you destroy it, the more likely you are to like it. The more times you destroy it, meaning the more treatments you do, the more likely you are to cause scar tissue or permanent damage where you are not growing hair. that area five weeks later and Camilli has improved enormously and is now more accepted, yes, you see those burns.

I think it's unfortunate to say it with technology, but I think with the technology that we hear that we have here in the US and the experience that we have here. In the US, I think maybe it could have been made in a way that didn't cause that kind of skin damage, but it's hard to say that it weighs just over 46 pounds and weighs almost three times the weight of a baby boy. average. Yes, there is something going on here from a metabolism standpoint, when a child is this size it is rarely simply due to traditional overfeeding.

This is a type of hyperphagic syndrome in which the child eats too much due to something in the metabolism. We started noticing that he was overweight when he was three months old but from then on his weight continued to increase. Generally, in the medical community we like babies to have a little excess fat. It is good for development. It is ideal from the beginning. We have seen that it promotes good neurological development, but. then when you cross a line and start passing the 99th percentile growth curve, you are now putting the child at risk for developmental problems not only from the musculoskeletal side but also from the cardiovascular, neuromuscular side, imagine the strain on your heart. move because he has a lot of extra weight for his age.

Santi was already suffering from life-threatening

diseases

related to obesity including diabetes and hypertension, everyone expects that as parents treat him very badly and that is the reason why he is obese, but in reality he is not. It is possible to feed them to that degree of obesity, which is why I said it is not an overfeeding situation. Santiago suffers from a condition called congenital Lipton deficiency, this is a hormone that is very important in controlling appetite and in fact children who suffer from this not only overeat and have this hypophagic state but as they grow they will eat They will secretly steal food from others.

They will fight over food. A daily injection of the hormone leptin will stop Santiago's constant hunger and eventually his weight should normalize. Isn't it amazing the impact hormones have on our body and that's a hormone. There are so many hormones that play these vital factors that control homeostasis in our body like a hormone to protect us from overeating. A hormone protects us from eating little. u hormone to make sure we are not over hydrated one protects us from being under hydrated there are so many sensors inside our body it is truly amazing that we actually continue to function every day i was born with an extremely rare condition known as genu grave recurvedum wow, nor I didn't even understand exactly when I first saw what was going on, but this condition is basically known as knee hyperextension, so when you lock your knee it's not supposed to go above 10 degrees and if it does for any reason.

If you have a congenital deformity, muscle weakness, something is happening with the bone that is considered this condition, your knees bend incorrectly, so you walk on the back of your legs, this is obviously not due to a bone disorder. connective tissue like ehlers-danlos, but I see a lot of patients who have laxity in their ligaments, they can hyperextend and sometimes over time, standing on hyperlaxity of ligaments, they can actually develop a condition like this, such perhaps not to this degree, although despite his disability, Tuanji learned to walk and moved as best he could. her to attend school where she was accepted by other students, that is surprising because social acceptance is of utmost importance during childhood and adolescent development.

I see and foresee a lot of problems for her from an infectious standpoint, unless she gets proper padding for her knees, where you can constantly have breaks in the skin and I imagine calluses would form, but even with calluses you're going to have problems with infections. . She was happy with her life until two years ago when a charity offered to fund the surgery, we don't know why either, but this. This condition is more common in women. She underwent a series of scans to help surgeons determine what can be done. That's the most important thing because you need to figure out how you're going to reattach her muscles so she can walk properly, like what's missing if anything.

There is a kneecap, there is a tibia, there is a femur, where are the ligaments that are present or not present because you can take donor grafts from other parts of the body and join the bones together that way, but you need to know before you go in, Otherwise the patient? She will be under anesthesia for a long time and that is not ideal. We will perform operations on both sides of the knees. The joints of the ankles and soles of the feet. Her souls are not flat, so we need to make them flat through operations that she and her parents had. deciding if surgery was worth the risk an important question that everyone should ask themselves when undergoing surgery because it is easy to fall into what we call routine procedures or routine surgery without blaming or ruling out any specialty, but if the work of a surgeon is to operate, they are I'm going to offer an operation, it's the surgeon's job to know when it's appropriate or not, but I say let's go one level further and take it upon Otis to ask the question: is it important and what happens if it doesn't?

I'm going to surgery in a A few days later she was taken to the operating room for her first operation, where Dr. Chen attempted to straighten her right leg. Yes, looking at this drawing I could see that there is a very acute angle between the femur and the tibia, where they normally meet. She would have to literally cut the bone and perhaps create an artificial joint or make use of the structures that already exist again. I am not a surgeon or orthopedic surgeon, so I leave it to sub-specialists like this, the operation is a long and complicated process that involves cutting a precisely measured, triangular-shaped piece of bone from the back of the lower part of the Twangy thigh.

We cut and remove this piece of bone, then adjust the thigh bone so that it looks like this. This is like when medicine was art and engineering. match just three weeks after entering the hospital, the 12 cheese legs are now straight. Each surgery is followed by several weeks of muscle rehabilitation to help support her newly structured bones. That type of muscle rehabilitation will be of utmost importance, not just for gain. circulation to the area to help it heal, but also from a neuromuscular standpoint so that you can learn to have good control over these muscles and the new movements that they do because you previously learned and taught those muscles to fire in a way that they have to. change completely. biomechanically it has to change 20she has two four hour operations in two weeks first her right foot is corrected and then the left three weeks after the fourth operation her feet and ankles are still supported by casts but twangi takes her first proper step, that's amazing five months after its final operation in Taiwan, which is not that long.

Five months he was four foot two but now he has gained 12 inches in height. Now his legs are straight. I go for walks whenever I have time. Election control. Independence, that's what it gives to humans. that layer of intrinsic happiness, how can doctors miss a case of lupus? Click here to view this patient's history. I hope he enjoys it and, as always, stays happy and healthy.