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doctor-reacts-to-rarest-diseases

Doctor Reacts To Rarest Diseases

let's take a look at some incredibly rare genetic conditions and how they can impact both length of life and quality of life huge thanks to True classic our sponsor for this video let's get started in the suburbs of Buenos Aris there's a young man whose reputation precedes him 24-year-old Christian Fritz has Proteus syndrome which causes parts of his skin bone and flesh to grow large and misshapen what's interesting about Proteus syndrome it affects all three cell lines which is endoderm mism and ectoderm so that means a lot of different tissues in fact all tissues that originate from these stem cell lines end up being impacted the same Affliction it's believed that led Joseph Merrick to be known as The Elephant Man there's still no cure for the condition and Christian has endured great suffering because of it the issue with these genetic conditions is it's not as much treating whatever is on the outside it's starting from the beginning and fixing the genetic problem which is why we're hoping that a technology like crisper can be used for a condition like this that would otherwise be disabling or lethal at Birth in many instances from the moment I gave birth one of the doctors said that there was something wrong her baby wasn't growing normally and over the years it just got worse and worse his heavy limbs and massive tumors put a heavy burden on his hips and knees I can only walk about 50 ft without assistance yeah I was going to say I wonder if there's an orthopedic procedure whether it's surgical or otherwise that can help him with his functional limitations because being able to walk freely and having Independence is important in adulthood one of Christian's problems is that he has a normal heart but an a body three times the sight there is an increased pressure in his heart his kidneys and his organs a lot of times in in a condition like this the blood vessels can also be impacted thereby increasing the pressure the heart has to pump against which then actually creates physical changes within the heart and when the heart changes in a negative way like that it's becomes known as heart failure doctors found that Christians red blood cells were extremely low they did a blood transfusion which caused heart and kidney failure Christian almost died it was the first time in my life I was scared a stint on the dialysis machine helped him recover but it was a very close call I wonder if he was experiencing disseminated intravascular uh coagulation complex situation and there's all sorts of things that can trigger it today's checkup ends without any cause for alarm and Christian couldn't be happier you only have one life and it's too short to waste it by feeling bad it's great that he's found a community around uh his limitations and we have to be honest and call them limitations because I'm sure there are things he would like to do run more freely be able to walk great distances and he has limitations but that hasn't put a limitation on his ability to dream he still has goals he set for himself he has friendships and that's what really matters is setting yourself goals that are appropriate for you but challenging enough for you so that it's still valuable once you achieve those goals seeking a happy retirement 60-year-old Ida and her husband Randy moved to Smithville years ago there are places where everyone knows and cares for their neighbors a lady looked at me and said you should be ashamed of yourself being a woman and coming out in public with a hole like that in your head is that a cancer that looks like either a Squam andell carcinoma or basil cell carcinoma a malignant type of cancer consumed Ida's face now she hopes for a medical miracle Ida's Journey started over a decade ago I had a spot on my nose and then years later a pimple came up in that same area and I squeezed it but the hole just kept getting bigger so that's one of the most important things I tell my patients and I've said it on this YouTube channel that if you have a nonhealing wound in the face especially one that's growing even if it's mild you should speak to a doctor about it reason being is there's cancers like basil cell carcinoma for example can present itself in this way and while basil cell is a slow growing cancer it's not one that usually spreads at usually stays quite local it can be greatly disfiguring especially upon its removal and I was seeing a family doctor and he was telling me to cleanse this wound with detol and water I hope there was a lawsuit involved here Ida has basil cell carcinoma the condition afflicts more than 50,000 Canadians annually it's the most common type of skin cancer what's interesting is there's actually a type of surgery called a moose procedure where they do a significant amount of reconstruction of the face when they remove a tumor it's literally an art the amount of change they could make to the face and still make it look similar to how it was before doctors removed her right eye and socket her nose sinuses forehead and part of her skull that cradles her brain I was shocked at what I looked like you I was totally devastated a large skin graft surgically covered the hole left in Ida's face I'm not going to lie it seems like it's subpar hair I didn't know it was coming I had no idea that it was even ready oh facial prosthesis I is new face fulfilled a dream she's had for a long time my dream was to be able to have my face is so I could look my husband straight in the eye and just tell him how much I love him and how much I appreciate how much he's supported me throughout this last four years pretty incredible what a difference it makes just to have this little piece of plastic on the face but makes a difference back to the conditions and in just a second but first I want to tell you about true classic a clothing brand that actually fits me between my careers as a professional boxer and a dog dad my figure has fluctuated a bit which is why I've been so grateful for True classic 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are usually caused by the HPV virus the virus that also can lead to cervical cancer oral cancer at times and that's why we very much recommend the HPV vaccine gardisil to to patients in certain age groups to prevent the likelihood especially in these subtypes of HPV that is can make someone prone to developing cervical cancer and since the implementation we've seen cervical cancer rates and cervical cancer death just absolutely plummet in addition to things like screenings with papsmear for over 40 years wlike growths have been spreading over Lewis's body does he have an immune predisposition to being susceptible to the HPV virus that most of us don't have epidermoid displasia veric foris there is no cure for Ev and there's no specific Dermatological treatments here that you can use to decrease the amount of wart formation to make it more comfortable for him to work and live but Dr gonalves believes that by giving Lewis regular boost to his immune system he will build up a resistance to the human papiloma virus I don't know if that's necessarily correct in up to 6 50% of cases of EV the warts turn malignant and transform into skin cancers now back home Lewis's biopsy results have confirmed that he does not have cancer with a condition like this I believe that there's a very high risk of developing something known as scamac cell carcinoma that's a very invasive type of skin cancer and I believe individuals with this condition have like astronomically High rates at some point in life they will get it sometimes in their 20s and 30s and as he is receiving regular boosters to his immune system his warts are already starting to reduce in number I want to look at this about immune treatments for this condition so there's topical treatments there's oral medication like retinoids interferon okay so you could use interferon you could use surgical obviously treatments protection from the sun which is very important because they could speed up those malignant lesions we talked about yeah see I'm not seeing a lot of great evidence for using any kind of immune system treatments unless unless someone is specifically imuno compromised mostly preventive measures which is unfortunate given that he lives in such a sunny area I really wish they got him some surgical care here cuz I think with the correct surgical treatment he would have significantly better quality of life triny Airway had a normal birth and was a healthy baby but at age four a benign bone t appeared on the right side of her face so the fact that it's benign is probably a good thing the only issue is will it affect any kind of anatomy in order for her to breathe properly for her eyes to function and also whether or not it's an ever expanding tumor o see her mother never imagined it would reach a massive 4.4 lb and remember this is growing outside of the body so it's actually beneficial because it's not putting pressure on the internal structures of the brain brain trinny's mother is acutely aware of how her daughter is feeling triny has a hope that one time one day that thing will go off she thinks that if this operation is done she'll look she'll be fine she'll look normal I mean knowing the quality of plastic surgeons that exist these days and given the fact that it's a benign bone tumor perhaps there is a reasonable surgery to be had here this looks like a type of fibrous dysplasia where fibrous tissue actually replaces the bone and starts growing this abnormal way doctors in Uganda tried to remove the tumor but it only made it grow bigger and more frightening I'm whated the boat if she's not operated it to might eat her all up the whole head might swell that's not an unreasonable concern because all it has to do is block off a vein block off some vital structure and it can create massive swelling from a lymphatic system component with triny's medical records from Uganda the doctors in the UK are able to diagnose her she has a condition called fibrous dysplasia there is no known cure for the disease fibrous displasia is actually a you know a very rare tumor of bone even though it's rare it usually only happens in a single bone excising a 4.4 lb tumor is delicate and painstaking work 4 months later Trinny and her mom are back in Uganda and filled with gratitude I wonder with fibrous dysplasia if you remove so much tissue does it eventually grow back and you need repeated surgeries that I'm not sure about and she has big Ambitions for the future when I grow up I want to be trinny's bone tumor May grow back but doctors from the facing the world charity have committed to any future treatment you know that reminds me of a a story of a company that I actually donated to we actually were able to give a sizable amount of money for a device that went into FDA trials that essentially acted like a cook cutter for those with congenital nose and ear deformities normally a surgeon would have to take some cartilage from the rib and then shape it into the replacement ear or nose but this allowed you to just put the cartilage into the cookie cutter and press it and you already have the predetermined shape there in different sizes to fit the patient's face and it was a great way to be able to deliver care into areas where there weren't enough skilled surgeons to be able to do that type of procedure and significantly shortened the amount of time required for that surgery it was pretty amazing that we're able to do that we actually have a whole video on that Linked In the description when Arkansas is known as the city with a smile and it's home to a woman who manages to smile against all the odds Stephanie has harloquin ecosis a rare genetic disease which causes her skin to be abnormally thick and severely cracked yeah this is a a condition that only affects quality of life but also so can cause death very early on in life because remember your skin is a vital organ that not only protects you from like an immune system component of protecting you from outside Invaders but also from an electrolyte balance standpoint there's so much value to skin and if there's issues like this it can be problematic again quality of life as well as length of Life survival rate at Birth is 50% as babies with the condition normally die within a few days through infection yeah I've seen the death rate be as high as uh 2/3 Stephanie at 23 years old has survived to become the oldest living female in America with harlequinn ecosis but she struggled her whole life with the condition constant protection is required I think it's like a barrier pretty much is the best way I know how to describe it to keep the germs out yeah it is a barrier and it also helps keep moisture in I've always wanted be a mom but I didn't know if I could have kids I wonder if this condition impacts that big fear was whether the skin on Stephanie's stomach would stretch as she grew bigger during pregnancy a person with harlequinn eiosis giving birth was unprecedented we talked to doctors but they knew nothing they couldn't tell us anything because okay I always the first to win yeah the condition's so rare and with most people losing quality of life and dying so early sometimes it's hard when patients ask us questions and we just don't have evidence to fall back on we can only speculate and a lot of times our spec speculation is just a best guess off of The Limited information that we know Stephanie became the first ever Harlequin eiosis sufferer to give birth I wonder if she had to have a C-section she had a healthy baby boy Willie now aged two followed by Olivia aged 4 months neither child was born with hocine theosis as both parents must have the genetic defect for it to be passed onto their children pretty incredible I mean I wonder if both of her parents had a trait for it because otherwise she would have known that her parents had that did you know my actual identity is being stolen I chronicled it here as well as got the scammers on the phone click here check that out and as always stay happy and healthy

Dr.

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