A nine-year-old boy can’t cry or sweat and only has two fingers on each hand due to a rare cleft disorder caused by a genetic mutation that only affects one in 10 million people.
Ethan Kranig, of Prescott, Wisconsin, was diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome (EEC) at his birth, a disorder which affects only about 500 families in the world.
The exact incidence of the disorder in the general population is not known, but it impacts males and females in equal numbers and can be diagnosed with either a blood or genetic test.
The disease is typically spread from parent to offspring, but this was not what happened in Ethan’s case.
After his birth, neither parent was found to be a carrier of the gene, meaning it was a random genetic mutation when Ethan was conceived.
EEC syndrome is a rare form of ectodermal dysplasia, characterized by clefts to different parts of the body, missing fingers and toes, missing or complete lack of teeth, missing tear ducts, and inability to sweat.
Though the symptoms are severe, and will affect day-to-day life, it does not impact life span or an individual’s spirit.
Ethan Kranig, of Prescott, Wisconsin, was diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome (EEC) at his birth, a disorder which affects only about 500 families in the world. He is pictured with his parents Natalie and Douglas
After he was born birth, neither parent was found to be a carrier of the gene, meaning it was a random genetic mutation when Ethan was conceived, which, his mother Natalie Kranig (pictured right with Ethan) explained, only happens in one in 10 million people
LIVING WITH EEC: HOW THE DISORDER AFFECTS ETHAN’S EVERYDAY LIFE
Ethan’s everyday life is complicated, his mother told Daily Mail Online.
‘When he was born, he had a cleft lip and palette, cleft hands, cleft feet, urology and GI issues. Essentially his anus was clefted to his scrotum,’ Natalie explained.
The urology and GI issues in particular keep Ethan’s mother busy, as she has to change his catheter multiple times a day.
‘It’s something I do every three to four hours during the daytime, but not at night. He can sleep through the night, it’s no different than when you or I would have to use the bathroom.
When Ethan was born, his anus was clefted to his scrotum, his mother said, causing blockage and meaning he had to have a colostomy bag to collect his waste.
The bag collects waste products that would normally pass through someone’s rectum and anus while using the bathroom.
Ethan used one until he was old enough to have a surgery to restructure his anatomy and remove the blockage.
‘He doesn’t have a one anymore, but it was something we had to deal with when he was an infant. Even though he doesn’t need one now, doctors aren’t sure how long that will last, and it could be an issue that arises again,’ his mother explained.
Ethan’s everyday life is complicated, his mother told Daily Mail Online. ‘When he was born, he had a cleft lip and palette, cleft hands, cleft feet, urology and GI issues,’ she said. Ethan is pictured with his mom and brother
Ethan was also born without tear ducts or sweat glands, which his mother explained is the biggest challenge, especially during the summertime. If he gets overheated, he has seizures. He is pictured during a trip to the beach with (left to right) his mother, Natalie, his brother Wyatt, and two other family members
Ethan was also born without tear ducts or sweat glands, which his mother explained is the biggest challenge, especially in the summer.
‘I have to make sure to keep the surface of his eye moist, and we do hourly eye lubrication with drops,’ Natalie explained. ‘And if he overheats he has seizures, so I have to make sure to keep his body temperature low, which can be very hard to do in the summer.
Ethan also was born without teeth, meaning he has to wear dentures every day.
‘How many nine-year-old boys do you know with dentures?’ his mother joked.
ETHAN’S NUMEROUS SURGERIES AND HOW THEY IMPROVE HIS CONDITION
WHAT IS ECTRODACTYL ECTRODERMAL DYSPLASIA-CLEFT SYNDROME
EEC syndrome is a rare form of ectodermal dysplasia, characterized by:
- Absence of fingers and/or toes
- Cleft lip or palate
- Flat nose tip
Other common symptoms include:
- Missing teeth
- Very pale or lightly pigmented skin and hair
- Abnormally formed nails
- Hearing loss and small or malformed ears
- Diminished sweating
- Lack of tear ducts
- Urethra, bladder, and GI problems
It impacts males and females in equal numbers, and can be diagnosed with either a blood or genetic test.
The disease is typically spread from parent to offspring, but can occur from a random genetic mutation.
Information from NFED.org
In his short nine years of life, Ethan has had 29 different surgeries.
His most recent was on April 21, when he flew to John’s Hopkins in Baltimore to have surgery with one of the only pediatric corneal surgeons in the United States.
He needed the procedure because the disease caused him to start going blind. Before the surgery, he was legally blind in his right eye, and had lost 55 percent of vision in his left.
‘He grows extra cells in his eyes because they can’t moisten themselves, but then those cells grow over his pupil and cause blindness,’ Natalie explained.
The surgery, his mother said, cauterized the blood vessels in his eyes so that they would stop producing these extra cells.
Last week the family learned that the surgery significantly improved Ethan’s vision.
However, it also caused his eyes to develop ulcers, which can be painful and cause blindness down the road when they begin healing and leaving behind scar tissue.
‘When they start to heal, the scar tissue could cause him to go blind,’ Natalie explained.
‘Obviously we want them to heal though, so we are going to fly back to Baltimore on August 16 to readjust his treatment again. He was taking Avastin, which slowed the cell growth in his eyes, but we had to put that treatment on hold for 30 days because it could keep his eyes from healing properly.’
Ethan’s numerous procedures have cost his family a lot of money, but his mother said they’re worth it.
‘It’s expensive yes,’ his mother explained. ‘But all of the procedures are necessary to help him live as normal of a life as possible.’
In his nine years of life, Ethan, pictured left at a police academy ceremony, and right at home, has had 29 different surgeries, with his most recent on April 21
Ethan, who is pictured center with a team of police officers, needed the procedure because the disease caused him to start going blind. Before the surgery, he was legally blind in his right eye, and had lost 55 percent of vision in his left
DESPITE DAILY DIFFICULTIES ETHAN ACTS LIKE A NORMAL NINE-YEAR-OLD
As far as making him feel like a normal boy his age, Ethan’s older brother Wyatt (pictured left) can take a lot of credit
Though Ethan was born with the disorder, he acts like a normal boy his age, his mother explained.
She also said Ethan’s older brother Wyatt can take a lot of credit for that.
‘Wyatt is 11, and Ethan looks up to him in just about everything he does. So far he’s met all of his milestones with things like walking and talking, and that’s because he tries to keep up with his brother, Natalie explained.
‘He’s in a regular classroom, and just has some therapies throughout the day like speech, physical and occupational. He can do just about anything other kids his age can, he just does them a little differently.’
Natalie said one of her biggest concerns is keeping him from going blind.
‘Some of the other children we’ve met with his disorder have gone completely blind, and I don’t want that to happen to Ethan,’ she explained.
‘It’s been a struggle, and it can be very expensive,’ she said. ‘Especially because it’s so hard to find doctors who are familiar and comfortable treating his symptoms.’
To help raise money for his treatment and numerous surgeries, the family set up a YouCaring site.