Former basketball star Shaquille O’Neal recently apologized for an episode of cyber-bullying after he posted a photo to Instagram mocking Jahmel Binion, a 23-year-old affected by ectodermal dysplasia. While media reports make it sound like ectodermal dysplasia is a single rare genetic disorder, it is in fact a group of 150 disorders characterized by the abnormal development of the ectoderm, which gives rise to hair, teeth, skin, nails and sweat glands.

Each subtype of the disorder has a different combination of symptoms, which can range from mild, such as thin hair, to severe, such as skin erosion. The most recent estimates are that ectodermal dysplasia affects as many as seven in 10,000 births, which in a country of over 300 million people isn’t a lot. So it’s no surprise that you probably haven’t heard of it until now. If you had asked me 13 years ago what ectodermal dysplasia was, I couldn’t have told you. But then I met the Geismar family.

When Ryan Geismar was born on November 22, 1998 his mother Ruth knew something was wrong right away. The doctors wouldn’t let her hold him or see him. Ryan was born with bright red skin, which the doctors described as a severe rash. Neonatologists were called in immediately, and slowly they began to find other abnormalities: a cleft palate, webbed toes and fused eyelids. They also found that what they initially believed to be a rash was severe skin erosion, affecting 70 to 80 percent of his body. Ryan was whisked off to the neonatal intensive care unit and doctors scrambled to find a diagnosis so they could figure out how to treat him. None of them had ever seen a baby with ectodermal dysplasia before or even heard of a case as bad as Ryan’s. While they searched for a diagnosis they decided to treat him as a burn victim.

Three days later the diagnosis came from a skin biopsy. Ryan had Hay-Wells syndrome, one of the rarer forms of ectodermal dysplasia. He went home, but returned to the hospital a week later in septic shock from a skin infection. He spent the next six months in reverse isolation in the pediatric intensive care unit because he kept getting skin infections. At one point he contracted a yeast infection so severe that he had yeast in his bloodstream, which could have proved deadly.

While in the PICU, doctors also worked on Ryan’s feeding issues. His cleft palate made it difficult to feed him and he exerted more calories than he took in. He was given a nasogastric feeding tube, which was eventually switched to a gastric feeing tube when he dropped to under three pounds. They quickly devised a treatment plan for his skin, applying Aquaphor, Vaseline and gauze dressings, which were changed every six hours.

At six months old, Ryan was finally able to go home with round-the-clock nursing care. Slowly but surely, things improved. His cleft palate was repaired when he was 14 months old, and eventually his fused eyelids were too. At age three he began attending the Henry Viscardi School, a New York state supported special education school for children with severe physical disabilities, and a year after that he attended an intensive feeding program to try to transition him off the feeding tube, which was finally removed when Ryan was eight years old. And over the years, his skin started to heal – but it was a very long and slow process.

Now Ryan’s skin is healed and he’s a healthy and thriving seventh grader in public school. Two years ago we went to Disney World to celebrate his bar mitzvah, which was an incredibly emotional experience, because it represented such a huge milestone in the life of a boy who, in his first year of life, wasn’t sure to survive.

“There are a handful of babies that are born with skin erosion, and up until Ryan we didn't know of any that had survived at that point,” says Ruth, his mom. “I'd like to think because of Ryan, more babies are surviving and they know what to do in extreme cases such as Ryan’s.”

Ryan not only helped doctors develop a treatment protocol for severe skin erosion, but he also contributed to the scientific literature on Hay-Wells syndrome, participating in the study led by Dr. John McGrath of King’s College London that identified the P63 gene as the one responsible for the disorder.

Now that his skin is healed, Ryan and his family are left just dealing with ectodermal dysplasia. One of the main things Ryan and others with ectodermal dysplasia have to worry about is regulating body temperature. In most people with the disorder, sweat glands are either abnormally formed, don’t function correctly or are decreased in number. In some cases, such as Ryan’s, the sweat glands are completely absent. This means that regulating body temperature is always a concern and always important because overheating can lead to significant problems such as seizures and other issues. Ryan also wears top and bottom dentures, because like most people with ectodermal dysplasia, he has missing or malformed teeth. When people with the disorder do have teeth, the teeth are usually pointed or peg-shaped and have defective enamel.

Other symptoms include scalp and body hair that is either absent, fine, sparse or light in color, and nails that may be absent, too thick, too thin or brittle. The skin issues experienced are as varied as the different types of ectodermal dysplasia, with eczema being the most common.

Because of the small number of people affected by rare diseases, research can be a challenge, limited by funding or the number of people available to participate in studies. But research into ectodermal dysplasia has been making strides, especially for x-linked hypohidrotic ectodermal dysplasia (XLHED), the most common form. In 2005, Dr. Margret Casal of the University of Pennsylvania identified the EDA gene as being linked to XLHED in a dog model. Two years later, she successfully treated canine ectodermal dysplasia using a recombinant protein called APO200 to replace the missing protein in the EDA gene. The protein helped the dog’s tooth development and ability to sweat.

Now called EDI2000, the same protein is being used in human clinical trials. After safety trials in adults were conducted from 2012 to 2013, the first baby received treatment in September 2013. The injection must be given in the first two weeks after birth, when the ectodermal structures are still receptive to stimulation. Newborn baby boys are still being recruited to participate in phase 2 of the clinical trials, but the hope is that the protein will be as effective in infants as it has been in mice and dogs in reversing some of the developmental defects of hypohidrotic ectodermal dysplasia.

All images courtesy of the Geismar family.