J.D. plays in his crib

Photos and text by Paula Ouder

Devastating news
Two weeks before his birth, doctors delivered James William Dixon III's family shocking news after performing an ultrasound.

"They said, 'Well, basically, your baby doesn't have a face. We don't see jawbones. We don't see ears. We don't see eyes. We see large clefts all over him. If he's even born and takes his first breath, you're going to be lucky,'" recalls his mother, Shannon.

"J.D." as he came to be known, was born two months premature. Shannon, remembers feeling relieved when she saw him for the first time. Doctors had shown her and her husband "horrifying" pictures of stillborn children with open skulls and sinus cavities.

"We were imagining no eyes and big holes in his face," Shannon said.

Though his condition wasn't as dire as physicians predicted, 18-month-old J.D. does not look like other children and never will. He has the fourth most severe case of Goldenhar's syndrome in the United States, judged by the malformations of his head and face.

J.D.'s right eye appears to bulge from his head. In reality, his eye is in the right place, it's his forehead that is pushed back. Where his left eye should have been is a small, empty circle flanked by numerous eyelashes. J.D.'s ears never fully formed and have no openings. On either side of his head is a small, fleshy bud that more closely resembles an adult earlobe than a baby's ear.

He is legally deaf and legally blind. He breathes through a tracheostomy tube in his neck and eats through a gastric tube in his stomach.

Despite his problems, J.D. has the love of a devoted family, a medical team that goes out of its way to care for him and a personality that shines through his disfigurement.

He plays with toys, loves to be held, responds to people and has a fiery temper.

About Goldenhar's
Goldenhar's syndrome is rare birth defect. Some researchers estimate it occurs in one out of every 3,500 to 5,000 births. Diagnosing Goldenhar's is not easy, because the condition has many characteristics that are similar to other syndromes. It is marked by a combination of eye, ear, jaw, skull and vertebral abnormalities, tissue growths and facial clefts. Some children also have heart and spinal problems. Other complications are possible. The right side of the face is most commonly affected.

Dr. Adel Al-Asfour reports that Goldenhar's patients are "of normal intelligence or mildly retarded" and the disease has no "heredity patterns, sex or racial predilection." Some researchers have found weak genetic links in the occurrence of Goldenhar's syndrome. U.S. military personnel who served in the Gulf War have had a higher-than-average number of children born with the disorder. Another theory suggests that an intrauterine hemorrhage early in pregnancy is the cause of Goldenhar's.

From joy to fear
J.D. was born to Lake City, Fla., residents James and Shannon Dixon, now aged 31 and 23, respectively. He is his mother's first child and his father's third. Shannon says she felt a tremendous amount of guilt when an ultrasound revealed J.D.'s problems. James' other children were healthy, so she blamed herself in a way for what was happening.

"That was at 29 weeks we had that ultrasound done," Shannon explained. "We were just devastated. I wanted to give James a perfect little boy, then to find out he may not even live to make it home. We cried the whole way home. We had to stop the truck several times just to sit there and think. 'Did we want to end this pregnancy? What are our lives going to be like? Would we have to change everything at home?'"

After talking with their parents, they decided to give J.D. a chance.

"We all just said, 'We're having him. If he turns out, fine. If he doesn't, at least we tried.' "

The moment of having him came all too soon, as Shannon went into preterm labor. When he arrived, she was afraid to see her newborn for the first time.

Neither parent wanted anyone to take photos of their young son as they gradually absorbed the magnitude of his problems. That restriction gradually fell away as they joined J.D. in a fight for his life that continues today. Shannon says she has learned to speak out to get what her baby needs and to find proper care for him. She's not afraid to discuss his condition and takes J.D. out in public at least two times a week for doctor's visits and shopping.

She said many doctors advised her and James to sign a "do not resuscitate" order and walk away from J.D. to let him die in the hospital, saying he wasn't worth saving.

"It was horrifying the thoughts we were having of how bad it was going to be (when he was born). And it wasn't that bad. It was a ton of weight off both our shoulders. It was, 'Ok, we're going to get through this.' It wasn't a 'what if' any more."

Fighting for life
J.D. has a host of unusual medical problems and requires constant monitoring. One corner of the Dixons' living room resembles a small hospital with machines, tubes and wires snaking around J.D.'s crib. Without around-the-clock care, he would quickly suffocate from complications of tracheostenosis, a narrowing of his airway.

Even though she has to get up some nights as often as every 30 minutes to suction fluid from his trachea, Shannon calls J.D. her "good baby." Since he was her firstborn, she says didn't perceive him as any harder or easier to care for than a healthy child because she had never had an infant to compare him to.

"He's my boy. He's rotten. He's been very exciting for us. He's brought meaning to our lives."

She said the struggle for J.D.'s survival has brought her family closer together.

"You don't take advantage of having children and being the perfect family with a dog in the back yard. You take advantage of him living today and looking forward to tomorrow," Shannon says.

"It's been a real joy."

A baby sister
When J.D. was 3 months old, the couple decided to try to have another child. Their efforts produced a perfectly healthy baby girl they named Sierra.

Shannon said their motivation was two-fold. They knew they wanted more children and couldn't bear the thought of an empty crib should J.D. die. They also had been told that J.D. would develop better if he had a sibling to learn from. So far, it's working. Sierra has taught him to suck his thumb, and the Dixons hope he will learn to sit-up when she does.

"He needed the help and he will learn more from her than he will from us," says Shannon.

What the future holds
While their attitude is amazingly positive, dealing with J.D.'s illness has been difficult for his family physically, psychologically and financially. They are reminded of the fragility of their son's life daily and have faced many hospitalizations he was not expected to survive. They consider his life to be a blessing and make the most of their own lives. They are hopeful for his future and insist that he be treated like a baby first and a patient second.

"We'd rather have him the way he is than not at all," Shannon says.

She craves simple things for her son. "I can't wait for him to eat his first cookie," she says with a giggle.

She and James want him to learn to walk and talk and accomplish whatever he is capable of.

"I just want him to be able to function normally, no matter what he looks like," Shannon explains. "He could stay the way he looks right now, I don't mind. I just want him to be able to sit, stand (and) walk -- do the things we take for granted. That would make me happy."

With surgery and therapy, he stands a good chance of making it.

Advice for others
Shannon wishes she would have found expert care for J.D. as soon as he was born. Goldenhar's syndrome is rare, and the severity of J.D.'s case puzzled local doctors in Gainesville, Fla. Surgical treatment could have started immediately instead of months later. She encourages parents to do research to find the best doctors, nurses, therapists and the best facilities. Above all, she advises families with disabled children to persevere.

"No matter how bad people say it gets, look for the bright side. It gets better. We were told many times, 'Just let him die; he's not worth saving.' He is worth saving. He's a child, no matter what he looks like. Just listen to your heart."

Disclaimer: This site was designed to document one family's journey through caring for a child with Goldenhar's syndrome and to lead other families to helpful resources. While every effort was made to draw upon credible sources, no part of this content or any link is intended to be used as medical fact or advice. Always check with your doctor before changing the course of your healthcare. This site is dedicated to the Dixons and the Jordans, especially Shannon Dixon, whose will and work keeps their son alive.

Copyright Paula Ouder 2002, all rights reserved. Last updated April 25, 2002.