Brenden's plight

A rare medical condition has a young couple scrambling to give their toddler a normal life
Seven-year-old Ryen Hill has a normal sibling relationship with her brother, 20-month-old Brenden. As she throws a ball, he chases it down and brings it back to her. Flopping himself into her lap, he wrestles with her for a few minutes until his curious toddler attentions turn to something else in the room.

"Brenden stinks," Ryen tells her parents. Suddenly aware that there are visitors, Ryen self-consciously runs to her room to grab a floppy hat to cover the haircut she gave herself the night before. Brenden takes the ball to his father, Rob, who smells the odor and swishes Brenden up for a diaper change. A huge grin spreads across Brenden's face, as if he played a joke on everyone in the room. He bats his long, black eyelashes and holds his ball out. "Ba, ba," he says as he's whisked into his bedroom.

In so many ways, April and Rob Hill are an average twenty-something American couple raising a family. But underneath the normal, everyday activities is an underlying concern about Brenden's health. He appears normal and is mentally developing at a normal rate for a child his age, but physically, he is much shorter than he should be.

April and Rob graduated from Bishop Ward High School in Kansas City, Kan., together. "We had Ryen young," explains Rob. "We knew we wanted another child, but we waited awhile for Brenden."

When April was pregnant with Brenden, they learned during an ultrasound that something might be wrong. "They saw an abnormality in the spine, but they did another ultrasound and thought that it may be an extra calcium deposit or something. They told us not to worry about it," Rob says.

He adds that when Brenden was delivered by cesarean section, he could see immediately that something was wrong by the look on the doctor's face. "The doctor said he was a lot shorter than they expected, and after they put him in the warmer and examined him, they told us that they were going to take him for x-rays and put him on oxygen."

Doctors called in a specialist from Children's Mercy, who told the Hills that Brenden's spine was abnormal, his ribs were fused together, and his spine looked as if it had been crushed. "We didn't even know if he was going to live for the first 24 hours," April remembers. "But after 72 hours, they sent him home. We had a handful of referrals to other doctors, and Brenden was still on oxygen."

For two months, the Hills saw genetic specialists, and finally a physician in California diagnosed Brenden with a genetic birth deformity called spondylothoracic dysplasia. The condition leads to a severe lack of growth in the spine and the rib cage. As a result, space is limited for the organs in this area, particularly the lungs, to develop and grow.

As in Brenden's case, other than the torso region, the rest of the body for a child with this condition typically is normal in size. But growing normally presents a problem because as the body grows, it requires more oxygen to supply these parts. With the limited amount of space available for the lungs to develop, they will not be able to accommodate this demand.

Brenden is about 27 inches tall, which is about 6 inches shorter than a normal toddler his age, and he weighs only 17 pounds. "Brenden wears little jumpers so his pants and diapers won't fall off of his short torso, and he wears 9-month-old (size) clothes," says April. "His belly sticks way out, and when I used to bathe him, I would cry every time. I felt so bad for him. But now I am used to it."

Brenden goes to Children's Mercy Hospital twice a month, where he is monitored for weight gain and receives special vaccinations to help protect his lungs from infection. A few weeks ago, he developed a slight cough that turned into pneumonia within three days.

April worked until she had Brenden. "They didn't tell us that we couldn't take him to a day care, but it was bad enough we had one child coming home from school carrying all the infections that kids carry. We just didn't want to take the chance with him," she says.

The Hills live in a modest, middle-income home in Kansas City, Kan., close to Rob's job at a feed and pet supply store. April's desire to someday become an interior decorator is evident in the tastefully decorated home, where a sign on the door asks visitors to remove their shoes.

Rob's job provides for the family needs, including health care, which has covered most of Brenden's medical expenses. After Brenden was seen at Johns Hopkins Hospital in Maryland for a consultation, the Hills learned that there was a surgery for Brenden's condition that had been FDA approved but was still considered experimental.