In this video, Mikhail Varshavski, DO, who goes by "Dr. Mike" on YouTube, looks at some of the rarest medical conditions.
Following is a partial transcript of the video (note that errors are possible):
Varshavski: Let's take a look at some incredibly rare genetic conditions and how they can impact both the length of life and quality of life. Let's get started. Peewoop!
Narrator: In the suburbs of Buenos Aires, there is 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.
Varshavski: What's interesting about Proteus syndrome is it affects all three cell lines -- which is the endoderm, mesoderm, and ectoderm -- so that means a lot of different tissues. In fact, all the tissues that originate from these stem cell lines end up being impacted.
Narrator: The same affliction, it's believed, that led Joseph Merrick to be known as the Elephant Man. There is still no cure for the condition, and Christian has endured great suffering because of it.
Varshavski: 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 CRISPR can be used for a condition like this that would otherwise be disabling or lethal at birth in many instances.
Vilma Cordoba [Christian's Mother]: From the moment I gave birth, one of the doctors said that there was something wrong.
Narrator: 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.
Christian: I can only walk about 50 feet without assistance.
Varshavski: Yeah. I was going to say I wonder if there is 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.
Doctor: One of Christian's problems is that he has a normal heart, but in a body three times the size. There is an increased pressure on his heart, his kidneys, and his organs.
Varshavski: A lot of times 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. When the heart changes in a negative way like that, it becomes known as heart failure.
Narrator: Doctors found that Christian's red blood cells were extremely low. They did a blood transfusion, which caused heart and kidney failure. Christian almost died.
Christian: It was the first time in my life I was scared.
Narrator: A stint on the dialysis machine helped him recover, but it was a very close call.
Varshavski: I wonder if he was experiencing disseminated intravascular coagulation (DIC). It's a complex situation, and there are all sorts of things that can trigger it.
Narrator: Today's checkup ends without any cause for alarm and Christian couldn't be happier.
Christian: You only have one life and it's too short to waste it by feeling bad.
Varshavski: It's great that he has found a community around his limitations. We have to be honest and call them limitations because I'm sure there are things he would like to do, run more freely and be able to walk great distances. 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. 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.
Narrator: Seeking a happy retirement, 60-year-old Ida and her husband Randy moved to Smithfield years ago. There are places where everyone knows and cares for their neighbors.
Ida: 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."
Varshavski: Is that a cancer? That looks like either a squamous cell carcinoma or basal cell carcinoma.
Narrator: A malignant type of cancer consumed Ida's face. Now she hopes for a medical miracle. Ida's journey started over a decade ago.
Ida: I had a spot on my nose and then years later a pimple came up in that same area. I squeezed it, but the hole just kept getting bigger.
Varshavski: 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 non-healing 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 are cancers like basal cell carcinoma, for example, that can present itself in this way. While basal cell is a slow-growing cancer, it's not one that usually spreads. It usually stays quite local. It can be greatly disfiguring, especially upon its removal.
Ida: And I was seeing a family doctor and he was telling me to cleanse this wound with Dettol [antiseptic liquid] and water.
Varshavski: I hope there was a lawsuit involved here.
Narrator: Ida has basal cell carcinoma. The condition afflicts more than 50,000 Canadians annually.
Varshavski: It's the most common type of skin cancer. What's interesting is there is actually a type of surgery called a Mohs 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 you look similar to how it was before.
Narrator: Doctors removed her right eye and socket, her nose, sinuses, forehead...
Varshavski: Wow.
Narrator: ... and part of her skull that cradles her brain.
Ida: I was shocked at what I looked like. I was totally devastated.
Narrator: A large skin graft surgically covered the hole left in Ida's face.
Varshavski: I'm not going to lie, it seems like it's subpar care.
Ida: I didn't know what was coming. I had no idea that it was even ready.
Varshavski: Oh, a facial prosthesis.
Narrator: Ida's new face fulfilled a dream she has had for a long time.
Ida: My dream was to be able to have my face so I could look my husband straight in the eye and just tell him how much I love him, and how much I appreciate him...
Varshavski: Aww.
Ida: ... how much he supported me throughout these last 4 years.
Varshavski: It's pretty incredible what a difference it makes just to have this little piece of plastic on the face, but it makes a difference.
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, is a board-certified family physician and social media influencer with more than 12 million subscribers.