Baffling Medical Mysteries That Defy All Logic

In the late 1980s at age 12, Martin Pistorius of South Africa came down with a strange illness. His doctors weren't sure what it was, but the prevailing thought was cryptococcal meningitis. He got progressively worse: first he lost the ability to move by himself, then his ability to make eye contact, and finally his ability to speak. His parents were told their son was essentially in a vegetative state, that he wasn't "really there," and would die soon.

But he didn't die. For the next 12 years, his parents took care of him - bathing, dressing, and feeding. One day, not knowing her son could hear her, Joan Pistorius told him: "'I hope you die.' I know that's a horrible thing to say," she told NPR in 2015. "I just wanted some sort of relief."

But he did hear her. Pistorius began to wake up between the ages of 14 and 16. "I was aware of everything, just like any normal person," he later recalled. His condition is known as locked-in syndrome, which can be caused by a stroke, traumatic brain injury, infection, or drug overdose. There is no known cure.

Although Pistorius could see, hear, and understand everything, he couldn't move his body. "Everyone was so used to me not being there that they didn't notice when I began to be present again," he told NPR. "The stark reality hit me that I was going to spend the rest of my life like that - totally alone."

He explained that he would disengage from his thoughts as a way to cope. Oddly, it was his hatred of the children's TV show Barney, which he was forced to watch daily at the care center where he spent much of his time, that led him to start reengaging with his thoughts in an attempt to take some control of his life. 

As his thoughts improved, so did his body. It was a relief worker at his daycare center who noticed his slight movements and realized Pistorius could communicate. She encouraged his parents to get another evaluation, where his consciousness was finally realized. By age 26, he could use a computer to communicate. He eventually enrolled in college to study computer science and started a company online. In 2011, he published his memoir, Ghost Boy. He is now married and a father of one.

Natalie Adler was 17 when she woke up one morning to find her eyelids mysteriously swollen, which was odd, but not necessarily alarming. However, her condition quickly deteriorated.

"[My eyes] just developed into this random cycle where they would spasm shut for three days then open for three days," Adler told 7 News in 2017, 13 years after her condition first appeared.

The problem has not only baffled her doctors, but it's so rare that it doesn't even have a name. Adler is now legally blind after having undergone several unsuccessful surgeries that removed 99% of the muscles in her eyelids. And while Botox kept her eyes partially open, she still continued to suffer from random bouts of blindness every month.

In her news interview, Adler said she remained hopeful of finding a cure: "I never lose hope because I just can't - that's not the person I am."

When Brooke Greenberg was born in 1993, she weighed just four pounds. Aside from her anterior hip dislocation, which was corrected through surgery, she appeared to be a normal child. But as she aged, her mind and body remained those of a toddler.

For the first few years of her life, Brooke grew a bit. "But age 4, 4 to 5, she stopped," Greenberg's father Howard told Katie Couric on Katie in 2013.

At the time of that TV appearance, the 20-year-old girl stood less than three feet tall and weighed around 16 pounds. Because of her small esophagus, she had to get nutrition through a feeding tube. She wore diapers and communicated as if she were still a baby of six months, according to her mother Melanie. "If she's happy, she'll giggle and laugh," she explained.

The Greenbergs visited dozens of specialists over the years, looking for answers about their daughter's condition. But the doctors were baffled, telling the couple that they knew of no other person with the same condition. 

"[The specialists] just said she’ll catch up. Then we went to the nutritionist, the endocrinologist. We tried the growth hormone," Melanie told NBC News in 2005. It was after the growth hormone failed to produce any results that the family started hearing "Syndrome X," the term at the time for Brooke's unknown syndrome.

In addition to not developing mentally or physically, Brooke experienced numerous other serious medical problems, including a stroke and a brain tumor, both of which amazingly resolved with apparently no damage. More than once, her family was told to prepare themselves for her death.

Brooke lived until Oct 24, 2013, when she passed at age 20 due to bronchomalacia, a weakening of cartilage in the lungs' bronchial tubes. In 2017, her condition was renamed neotenic complex syndrome, and a few other children have been discovered with it.

The human body consists of approximately 60% water. But some people are allergic to water, which forces them to deal with a condition known as aquagenic urticaria. It's a very rare malady (as of 2014, there were fewer than 50 known cases), and symptoms generally begin at the onset of puberty.

Australian Ashleigh Morris has dealt with the condition since she was 14. If her skin comes into any contact with water of any temperature, including sweat, she breaks out into sore, itchy red hives, primarily on her upper body. And it's incredibly painful, to the point that she can only stand to shower for a minute or so at a time.

"There's been many occasions where I've been so itchy, I've made myself bleed from scratching," a then 19-year-old Morris told The Daily Mail in 2008.

Although the hives tend to disappear within a few hours, there is no known cause for aquagenic urticaria, nor is there a cure.

When Gabby Gingras was a baby, she would bite her hands so severely that her mother described them as looking "like raw hamburger." But she didn't cry.

This was the first symptom of what was later diagnosed as congenital insensitivity to pain with anhidrosis, a rare nervous system disorder that leaves her immune to feeling any pain; she also cannot sweat. CIPA is so rare that when Gingras was diagnosed, her doctors could find only a dozen or so people in the world known to have the condition.

There is no known cure. The inability to feel pain resulted in Gingras scratching her eyes so severely that she is legally blind. In 2004, her left eye had to be removed and replaced by a prosthesis, and to protect her remaining eye, she wore swim goggles. CIPA also cost her most of her teeth; she either broke them off biting her toys or they were voluntarily removed after she damaged her mouth so severely that she had to be hospitalized. 

Gingras's story first received attention when a local TV station in Minnesota did a story on her as a 3-year-old. The story resurfaced in 2018 when her insurance company refused to cover the costs of a dental procedure that would rebuild the teenager's jaw and implant new teeth, claiming the procedure wasn't medically necessary.

Shortly after the story broke, Delta Dental volunteered to pay for the surgery.