Share this article

print logo

‘Rare form of a rare disease’ can’t hold back Lancaster fifth-grader

For Ryan Patota and his parents, a rare disease has tested their perseverance, helping them to find an inner strength through the toughest times.

Ryan was born with a genetic syndrome known as ectrodactyly ectodermal dysplasia. It’s so uncommon that the incidence isn’t clearly known.

One of his main physicians, Dr. Wayne Waz, chief of the division of pediatric nephrology at Women & Children’s Hospital, described it as “a rare form of a rare disease.”

Symptoms can vary, but often include an abnormality known as ectrodactyly, a condition in which part or all of the central fingers or toes are missing. Like others with the disorder, Ryan also was born with a cleft lip and cleft palate.

Ectodermal dysplasia refers to abnormalities in the outermost layer of the embryo and generally affect the hair, teeth, nails and skin. Salivary glands don’t work well. Teeth are out of alignment. Among other things, Ryan can’t sweat, meaning he’s lost his body’s natural way for regulating temperature, especially in hot weather.

-----

On Tuesday, April 26, thousands of volunteers will help sell a special Kids Day edition of The Buffalo News. The proceeds from the sale of this special edition are presented to Variety, the Children’s Charity, to benefit Women and Children’s Hospital of Buffalo, the Robert Warner MD Center for Children with Special Needs, Children’s Charities of Western New York and Cradle Beach.

-----

There are around 200 different types of ectodermal dysplasias. They can be mild or severe. In some cases, as with Ryan, babies are born suffering from dangerous genitourinary problems, such as obstructions of the tubes that carry urine from the kidney to the bladder, or malfunctions of the bladder. It may seem improbable, but Ryan, now 10, was only 2 years old when he received a kidney transplant from his father, Patrick.

Life for patients like Ryan means spending time in the hospital for many procedures and treatments, and seeing a range of specialists – pediatricians, pediatric surgeons, plastic surgeons, transplant surgeons, orthopedic surgeons, dentists, speech therapists, dermatologists and others.

[Innovative spine-stretching surgery helps 9-year-old boy stand tall ]

Patrick, an engineer at DuPont, met his wife, Eunok, when he was in Korea. The Lancaster couple has had to adjust to an exhausting but rewarding journey with their son, a fifth-grader in Lancaster who plays percussion at school, loves baseball and wants to be a sports broadcaster.

Eunok said Ryan, as he has gotten older, has come to better accept the constant medical care. For instance, he recently returned from the University of Pittsburgh Medical Center, where he was transplanted, for a rebalancing of the immune-suppressant medications he takes to prevent his body from rejecting the donor kidney.

“He’s been amazing overall. He is a very strong-minded person,” said Eunok, who trained to teach English as a second language but, for now, is working part time in the food service department at his school.

Eunok said she’s thankful the school district helped. The job allows her to stay close to Ryan in case a medical issue arises.

Because Ryan doesn’t sweat, for instance, a parent is always present with a spray bottle of water when he’s playing baseball. When it’s hot out, he wears a cooling vest that contains ice packs in the pockets. Likewise, his saliva glands don’t function well, making the mouth dry and, as a result, increasing the risk of infections.

Saliva and sweat. We take them for granted, but they play hugely important roles.

“It’s frustrating for him. He wants to go and hang out with other kids sometimes, but you need to constantly watch his temperature, and with the transplant and dry mouth, he needs to drink water,” she said. “The toughest thing is friendships. Whenever he is feeling lonely and other kids come over to our place, it means so much to him.”

[New procedure calms Jamestown boy’s seizures, makes college possible]

She credits Medicaid with helping to save Ryan’s life and preserving the family’s sanity. The government health program, which provides coverage to people with disabilities, pays for aides to help care for him at home.

“We’re blessed that Ryan was born in this country with the health care system that it has,” Eunok said.

It has been an ordeal at times for her and Patrick – years of frustration and anxiety, as well as rewards.

“In the beginning, my perspective was dark. Ever since his birth, one year feels like 10 years. We worried about Ryan’s future. We feared he would have a tough life,” she said.

Now, they can’t imagine life without Ryan. The couple, both observant Catholics, tell Ryan that God gives everyone a mission, and his is to teach others about the value of life.

“He’s shown us that you can’t take any day for granted. You don’t know what is going to happen,” Eunok said.

[Newborn boy bounces back after micro-incision surgery]

Ryan will always have to be careful to avoid complications, and he likely will need another transplant down the road. But he can live a near-normal lifespan, Waz said.

If his attitude is any indication, things are looking good.

“Ryan has the spirit of a champion,” he said. “There are limits to what these kids can do, but Ryan keeps overcoming them.”

email: hdavis@buffnews.com