The Gazette (Montreal, Quebec)
August 27, 1998
Baby’s skull bones closed prematurely
By Dr. Allen Douma
Question: A couple of months ago, our daughter gave birth to our first grandchild. He was born healthy at 9 pounds and has been wonderfully healthy since he came home.
But the pediatrician was concerned about the possibility of premature closing of the baby’s skull bones. He said he would need to have X-rays taken as he was growing up to make sure everything was fine. And if not, he may have to wear a helmet or have surgery. I’m a new grandmother and am praying that God can work a miracle for this little one to correct any problems he may have. I’m very worried, please help me.
Answer: I appreciate your worry as a new grandparent. Sometimes it’s a lot harder to deal with a child’s medical problems—no matter how slight—when you are somewhat removed from knowing what’s going.
Often times, the mother or father actually knows a lot more than the grandparents do, but no one wants to worry anyone else by discussing all the details. I hope that’s the case for you and that you can find out more from your daughter or son-in-law.
In the meantime, some background information should help you worry less and realize that a miracle is probably not needed for your grandson to be OK.
When we are born, the bones of our skull connect at lines along the top and side of our heads. The tissue there will later be filled in with bone. This allows the head to grow to accommodate the rapidly expanding brain.
If one of these lines (sutures) close early, the head will not be able to grow normally and the head will be bigger in one direction or another, depending on which suture line closes prematurely.
This condition (craniosynostosis) usually does not cause any compromise of brain growth. However, it may cause a change in appearance that you will want to avoid. Surgical correction is relatively easy but, to be most successful, should be done before the child is 6 months old.
Las Vegas Review-Journal
April 12, 1999
By Tanya Flanagan
Still in a daze from being sedated, Diane Morales lay in a hospital bed, straining through a mental fog to see her newborn son whom a nurse held before her.
What should have been one of the happiest moments in her life became a nightmare.
Questions flooded her mind. Her husband, Carlos, also was bewildered as he stared at their child. They looked at the doctors, at each other, and at their son, whose head was shaped like a football.
What happened and why?
‘I just looked at him and thought immediately, “Something is wrong with my baby.”’ Diane Morales recalled.
Their son, Christopher, now 10, had scaphocephaly, a form of craniosynostosis, a disorder that results in an abnormal skull and head shape. There are more than 80 types of craniosynostoses, congenital anomalies characterized by premature closure of one or more fibrous joints or sutures between the bones in the skull before the brain completes its growth.
Sutures usually hold a baby’s skull cap together and stay open until the brain develops. When the joints close prematurely, the brain continues to grow and expands wherever it can, causing parts of the head to bulge out and take on odd shapes.
Craniosynostosis occurs in one in every 3,000 newborns, according to Dr. Matthew Rosenberg, a Las Vegas plastic surgeon who has treated more than 50 children with the condition since he began practicing in the valley in 1992. Scaphocephaly occurs in one in 6,000 live births, he said.
Scaphocephaly, involving a single suture, is the most common, representing more than 50 percent of all cases, Rosenberg said. Research on the condition dates to 1851, with surgical procedures being done as early as 1891.
Children show symptoms at birth or shortly after, said Dr. Colleen Morris, clinical geneticist with the University of Nevada, Reno’s School of Medicine.
As recently as five years ago, little was known about the causes of craniosynostosis, Morris said. Today, known causes relate to the fetus’s positioning in the womb and occasionally how a newborn’s head is placed when a parent lays it down to nap.
‘Genetic mutations can run in families or can occur for the first time in a (single) pregnancy,’ Morris said. ‘It (a mutation) happens in cell division, and 3 percent to 4 percent of all children are born with a birth defect that might be something minor like having an extra toe or something serious like craniosynostosis or having a cleft palate. Even Down syndrome is included in that 3 (percent) to 4 percent risk.’
Doctors told the couple that Christopher’s malady was an isolated incident that would not recur should they have more children. They believed it until their daughter, Deandra, was born four years after her brother with the same condition. Two years ago, they had a third child, Elizabeth, who was born without indications of the condition but developed signs of craniosynostosis by her first birthday.
The children’s birth defects baffle the couple.
‘We don’t understand how that happened because she had a daughter before we married and I had a son, and nothing was wrong with either of them,’ Carlos Morales said.
Deandra’s diagnosis was the most difficult to accept, Diane Morales said. ‘With my daughter, it was a lot harder because they (doctors) told me I wasn’t going to have another child like this,’ she said. ‘Her forehead was pushed out, her temples were indented really bad, and there was a lump on top. Her head was oblong, fat and round at the cheeks, and then the top was narrow and pointy, and one eye was higher than the other.’
The couple were living in New York when Christopher was born. They moved to Las Vegas when he was 6 months old. While traveling, they were in an automobile accident that left Diane Morales disabled from a neck injury. While living in New York, both Diane and Carlos Morales worked for an emergency medical transport company. She was an emergency medical technician and he was a supervisor and paramedic.
Now Diane Morales, 34, lives in the family’s northeast Las Vegas home with the couple’s four children. The oldest, Stephanie Joyce, 13, was born with no complications. The medical care, hospital bills and other related costs have strained the couple’s 13-year marriage.
Carlos Morales, 48, does not live with the family but works as a security guard for a local company. He provides financial support to his family and spends time with the children.
‘We love our kids, and we are trying to work everything out,’ Diane Morales said.
The surgical procedures and follow-up therapy done to correct both children’s deformities have been the most difficult part of the ordeal for the parents.
Christopher’s surgery was done in New York and lasted 6 hours. His sister’s was performed by Rosenberg and a team of Las Vegas physicians in 1993 and took 2 hours. Both had a strip of bone roughly an inch wide removed from the center of their heads—from the front to the back.
In such surgeries, bone is always removed, and occasionally repositioned. The amount of removal depends on the number of sutures that close prematurely, Rosenberg said.
The different kinds of craniosynostosis are defined based on the number and location of sutures that close, he said. Surgery relieves pressure on the brain caused by the fused bones. Relieving the pressure lets the brain grow to its normal size and the head grow to a normal shape.
Rosenberg did not treat Elizabeth or Christopher, but he said the fact that siblings were born with cranial disorders alarmed him, so he referred the family to Morris for a genetic evaluation in October 1997. Morris said her office sent the family an information packet and requested photos of relatives, but she never received a response.
Diane Morales said she and her husband saw a genetics counselor shortly after Deandra’s 1993 surgery, but they learned nothing from the experience.
‘They said it is genetic, but they can’t tell us if it’s two of his genes or two of my genes or one of his and one of mine,’ she said. ‘Also they couldn’t tell me if my children are carrying the gene. They can’t tell us if my children will have children with this, and that is more frustrating than anything else because when they grow up, if they ask me are they going to have kids like this, I don’t have an answer. I know how hard it was to go through it with my children, and they will have to make a decision on their own. I wish there were answers that I could give them.’
Morris said research is helping to answer such questions.
‘In the last five years, there has been a lot of research with this, and now several different genes have been identified that show they cause craniosynostosis,’ Morris said.
In a family such as the Moraleses, both parents would be examined, and one parent likely would have the gene.
‘In most craniosynostosis cases, it is one gene, and genes come in pairs, and that means one in the pair isn’t working. This also means that sometimes you can have one parent who has such mild effects they don’t even know they have the gene’ until is shows up more profoundly in their child.
Morris said numerous genes exist that are linked to craniosynostosis. A patient’s symptoms or the number of sutures involved determines which genes a specialist would examine for mutations.
Today the condition has been reversed in the Morales children, and the scars and baldness created by the surgery barely show.
‘Nobody (really) notices,’ says Christopher, who spends about 10 minutes each morning strategically combing his dark brown hair to cover the bald patches.
Deandra also suffers from baldness. She has a scar that extends across the top of her head between each ear, which looks like a barber cut a part in her hair. No hair grows where the scar is, so she wears ponytails.
In addition to the scarring, the children had learning disabilities. Clark County School District teachers told the Moraleses that both their children were developmentally delayed and suffered from poor motor skills. At early ages, both had trouble writing their names, sequencing numbers and objects, and catching a ball, Diane Morales said.
The setbacks weren’t permanent for Christopher. When he first started school, he lagged behind his peers in an early childhood development class. Now he is part of a fourth-grade gifted students program at Mountain View Elementary School.
Deandra also began school in the same type of program. She still has difficulty writing her name but should be able to move into a regular first-grade class next year, her mother said.
Elizabeth, now 2, did not have surgery. She was diagnosed with mild craniosynostosis by a neurosurgeon but is scheduled to see Rosenberg for a second opinion in May, Diane Morales said.
Rosenberg said he favors forgoing surgery ‘if the child is beyond one year of age unless there is evidence of increased cranial pressure or the head is severely misshaped’ and as long as any prematurely closed sutures in a child’s head don’t place pressure on the brain. Pressure can cause brain damage.
When Elizabeth was conceived, her parents nervously awaited her birth.
‘We just waited to see what her head was going to be shaped like. It was tense,’ Diane Morales said, and at birth, ‘The eyes were closed because she was swollen. I thought I was going to die when I saw her.’
Eventually her head took on a normal roundness, and Diane Morales was hopeful the pattern had been broken. At a year old, a large bulge appeared on Elizabeth’s head just behind her forehead. A CAT scan revealed craniosynostosis. Her curly brown hair covers the defect.
‘The important thing is that my children are beautiful now,’ Diane Morales said. ‘It has been hard on everyone, but the doctors were wonderful, and we are getting through this.
July 2, 2000
A Brave Face: When You Look Different, Life Demands a Unique Kind of Courage
By Darrell E. Ward
Ask parents whose children have facial disfigurements to describe their lives, and the stories are strikingly similar.
For starters, these parents say, they and their child regularly endure stares, double-looks, pointing and thoughtless and even cruel remarks and questions.
“People look at you like you did drugs or something to cause this,” said one Chicago father of a 12-year-old girl with a facial difference. “People don’t stop and think before they make comments or lay blame.”
Having a facial difference is also hard because people often say such individuals “act kind of weird; act different,” said Will Eiserman, an educational specialist in the University of Colorado’s Department of Speech, Language and Hearing Sciences.
The reason they act differently isn’t due to the congenital condition that caused the facial difference, he said. Rather, it’s because other people don’t interact normally with them.
Research has shown, Eiserman said, that when people talk to someone with a facial difference, they tend to begin and end conversations more abruptly, ask intrusive questions and make eye contact for shorter periods.
“How are they supposed to learn normal social cues if everybody is interacting with them in a weird way?” said Eiserman.
And the difficulties don’t end there.
“A big problem is that people will look at a child or adult with a facial difference and assume immediately that the person is mentally deficient,” said Bruce Bauer, chief of the Division of Plastic Surgery, Children’s Memorial Hospital in Chicago. ”But that’s rarely the case.”
To overcome these hurdles, experts advise that people with a facial difference need to develop social skills that go beyond those required by most people. This challenge may be all the greater because they may have a hearing and speech difficulty, said Eiserman. These social challenges come on top of the medical challenges confronting the child and family.
Although a single surgery might correct a minor cleft lip, children born with a severe facial problem may require up to 30 or 40 surgeries between birth and young adulthood, and require extensive orthodontia work, speech and language therapy and counseling, said Kathy Kapp-Simon, a nationally known pediatric psychologist with Northwestern University’s Cleft Palate Institute. She specializes in helping children with a facial difference and their families.
The physical and emotional demands experienced by both parents and child can become overwhelming, she said.
Yet, being born with a facial difference need not be entirely negative, said Eiserman, who was born with a cleft lip and palate that he said was “pretty significant. My speech was pretty incomprehensible well into adolescence, and the scars were quite noticeable.”
According to the Cleft Palate Foundation, clefts result from the incomplete development of the lip or palate before birth. Surgery can close both the lip and palate and make them appear similar to those of children whose lips and palates closed before birth, although some scarring and differences in growth may remain, experts say.
Eiserman specializes in early interventions for children with special needs, particularly children with facial differences.
“The question is,” he said, “how do we get from facing the challenge of the medical needs and the things that truly are hard about looking and sounding different, to realizing that this can really contribute to a neat personality, a sense of community and a tighter family bond? It need not be just this really awful thing.”
Jennifer Justice, 22, was also born with a severe cleft lip and palate. It was severe enough to affect her eyes, a problem that multiple surgeries have been unable to completely correct. A senior in a bachelor of fine arts program at The Art Institute of Chicago, she is a performance artist who also paints in oils. Her favorite artists include the Baroque masters and Francisco de Goya; her favorite contemporary artists include Jim Lutes of Chicago and Fiona Rea of Great Britain.
Having a facial difference, she said, “is not the end of the world.”
She feels the experience has made her a less judgmental person. “You learn how to cut through a lot of pretension; you learn how to see what’s important.” She feels it has made her sensitive to others, more introspective.
“You have to know your body and yourself.” But, she said, “it’s hard for people to deal with it. It’s scary for them. The hardest thing is that people don’t know how to talk about it. They’re afraid they’re going to hurt your feelings; that it’s so painful you can’t talk about it.
“I try to be light about it. It’s something I live with every day. It’s like living with being a woman. ... It’s part of who you are; it’s natural.”
Eiserman said that about 484,000 people in the United States are newly affected by facial disfigurement every year. The number, he said, includes 250,000 traumatic injuries, 75,000 cases of skin cancer, 27,000 cases of head and neck cancer and 32,000 burn injuries.
The number also includes about 100,000 children—about 1 in 700—who are born annually with a congenital problem involving a facial difference. The majority of those involve a cleft lip or a cleft lip and palate.
Other congenital causes, all of which are rare, can affect the orbits of the eye, the cheek bones or the upper or lower jaw, said Bauer. They include an underdeveloped jaw or other region of the face; underdeveloped parts of the head and face, which happens in Treacher Collins syndrome; or the premature closure of one or more sutures in the skull, a condition known as craniosynostosis, he said.
Reconstructive surgery helps many people with a facial difference blend into the crowd, said Eiserman. “But others are hiding because of the huge stigma that is associated with having a facial disfigurement in our society, which overemphasizes beauty and has increasingly narrowed the parameters of physical acceptability.”
In most cases, giving birth to a child with a cleft lip and palate or some other facial difference comes as a surprise to most parents, said Kapp-Simon.
“Routine ultrasound is usually not focused enough to show facial deformities.” As a result, she said, “most families are shocked, and a bit numb in the beginning.”
They may then cycle through a host of reactions, including anxiety, fear, sadness and depression, she said. “Some families become very activist and seek information; others withdraw and barely function; sometimes one spouse will blame the other.
“This turmoil is normal. This is a crisis, and it takes time for the body to equalize and come back to normal again,” Kapp-Simon said.
An important first step following the baby’s birth is to seek care at a medical center with a team that specializes in craniofacial disorders, said Rickie Anderson, executive director of AboutFace USA, an organization that provides emotional support, information and educational services for people with facial differences and their families.
Anderson’s son, now 24, was born with a congenital condition known as Crouzon’s syndrome, a condition present at birth that affects the skull and bones of the face. Several of the sutures in the skull fuse, restricting the growth of the brain and deforming the mid-region of the face. It may be accompanied by vision, hearing, learning and eating problems, Kapp-Simon said, adding that surgery can ease many of these difficulties, as well as improve the child’s appearance, but it usually will not eliminate all signs of the disorder.
“His condition was severe and he wasn’t expected to live very long,” Anderson said of her son. He not only survived, she said, but he also graduated from college this year on Mother’s Day, and is getting married in the fall.
“These children are best cared for at a center that does this kind of work every day,” she said. It’s important “because the first surgeries are the foundation for those that follow.”
As the child grows, families must balance acknowledging the difficulties of having a facial difference with challenging the child to reach out and establish new relationships and activities, said Kapp-Simon. The child also will need help learning how to deflect people’s questions and stares with well-thought-out responses.
“I tell children that if they feel someone staring, to look that person in the eye and smile. It’s disarming,” she said.
Learning to forgive strangers in their ignorance is also important, said Eiserman. “People are going to stare and say things. The sooner a parent can get over that, the sooner they can really start being helpful to their child.
“Parents of very young children are setting the tone now for how their child will deal with difficult social situations later,” he said. “When they’re in the supermarket and somebody makes a comment or asks a question, they have to decide then and there about how they want their child to handle the same moments when he’s on his own.
“If they get defensive or have some kind of negative response, that’s what the child learns to do. And that does not make friends. Once in a while, that’s all you can do, but it should not be your only approach for handling those moments.
“My goal,” said Eiserman, “is that whatever the child does, he comes away from it feeling a sense of integrity. He may be sad or depressed that the situation arose, but he can feel good about how he handled it. That’s really important, and that’s probably as much as we can do.”
Denise Boneau and Matthew Kiell’s daughter was born with craniosynostosis, which results in a malformation of the face and head. When the Hyde Park couple took their new daughter, Marina, to the park or shopping, said Boneau, “someone would see us and say, ‘Oh, a baby!’ and I would cringe waiting for their reaction. Thank God for those who said, ‘Oh, she’s adorable; she’s cute.’”
As Marina, now 10, grew older, Boneau and Kiell taught her to explain to young children who are inquisitive about her appearance that “my face looks different because I was born this way, and I have had many operations.”
Such approaches don’t work with all children, however. “Marina once took a swimming class,” said Boneau, “and one child wouldn’t go into the water with her because the child was afraid she would catch what Marina had. I said, ‘Don’t worry, you can’t catch it,’ but the child quit the class.”
The parents of a child with a facial difference also may need new social skills. The year after Marina was born, Boneau and Kiell’s friends, who had children with no facial difference, stopped visiting. “They gave us a gift for the baby, and we didn’t hear from them again,” said Boneau.
“There was a lot of discomfort. They had their beautiful normal babies, and they were afraid of what our reaction would be. But we felt abandoned.”
New parents of a child with a facial difference, she said, “need to know people are still thinking of them. Take them soup once a month. Your friendship, even when uncomfortable, is essential.”
“Ask the parents how they are doing and how the child is doing,” said Kiell. “If you get the impression they don’t want to talk about it, don’t press it. But you can say, ‘I want you to know we’re thinking about you. If you’d like to talk, we’re here to listen.’ If they get emotional but want to talk, that’s probably what they need.”
Parents can also seek help from organizations like AboutFace, said Bauer. “The main message of AboutFace is that the outside of the package doesn’t show you what’s inside.”
Jennifer Justice best summed up how to treat a person—child or adult—with a facial difference. “We should be kind and accepting,” she said. “You’re not better than somebody because of the way you look.”
Treat children with a facial difference as you would any child, said Kathy Kapp-Simon, a nationally known pediatric psychologist with Northwestern University’s Cleft Palate Institute. Kapp-Simon specializes in helping children with a facial difference and their families.
“They have the same needs, interests and possibilities for success as other children,” she said. “If there is someone in your child’s classroom or in the neighborhood who has a facial difference, invite the child over and get to know him or her as a person. Get information and learn about facial differences. They are beautiful children. There is just a part of them that is different.”
“Try to see the person with a facial difference as a person,” said Denise Boneau, mother of a 10-year-old daughter with a facial difference. “Don’t stare or make a comment about the ‘problem.’ Have the conversation you would have with anyone else.
“If you see a baby or a child with a facial difference and strike up a conversation with the child’s parent,” said Boneau, “pay a compliment about some nice feature or personality trait. ‘What beautiful blond hair!’ ‘What a nice smile!’ ‘What a talker!’ ‘What a lot of energy!’ Even ‘She’s so cute!’ ” if this can be said genuinely.
“Avoid comments about how bright the child seems, however, because this can seem to thinly veil the underlying assumption that a child who looks ‘that way’ might be developmentally delayed,” Boneau said.
Teachers who have a child with a facial difference in the classroom should talk with the child’s parents about what the family would like the classroom to know about their child and the cause of the facial difference.
The simple reaction whenever anyone encounters a child or adult with a facial difference is described on the Web site for the organization Let’s Face It: “To support a person with a facial difference, look them in the eyes and smile at them.”
WHERE TO FIND MORE INFORMATION
The following are among the resources available to those looking for help dealing with facial differences. The Web sites listed have links to other informative sites.
AboutFace: The goal of AboutFace, according to its Web site (www.AboutFace2000.org), “is to assist persons with facial differences to have a positive self-image and self-esteem so that they can participate fully in their communities.” E-mail: AboutFace2000@aol.com; 888-486-1209. Contact: Rickie Anderson, executive director, P.O. Box 458, Crystal Lake, IL 60014.
Let’s Face It USA: The non-profit network (www.faceit.org/letsfaceit) links people who have a facial disfigurement and those who care for them to helpful organizations and other resources. It also publishes a 60-page resource list annually. E-mail: Letsfaceit@faceit.org. Let’s Face It, P.O. Box 29972, Bellingham, WA 98228-1972.
Cleft Palate Foundation: The non-profit organization (www.cleftline.org) is dedicated to providing information to parents of newborns with clefts and other craniofacial birth defects and to the health-care professionals who deliver and treat these infants. E-mail: email@example.com; 1-800-24-CLEFT. ACPA/CPF National Office, 104 S. Estes Drive, Suite 204, Chapel Hill, NC 27514.
Will Eiserman: An educational specialist in the University of Colorado’s Department of Speech, Language and Hearing Sciences, Eiserman specializes in early interventions for children with special needs, particularly children with facial differences. He can be reached at the University of Colorado at 303-492-5794.
Also, “Children with a Facial Difference: A Parents’ Guide” (Woodbine House Inc., $16.95) by Hope Charkins is a good book for parents of children with a facial difference.
Kansas City Star
July 9, 2000
Married surgical team’s caring practice touches patients, families
By Lynn Franey
COLUMBIA - A few minutes before beginning surgery on 3-month-old Elizabeth Quigley, neurosurgeon David Jimenez cradled the smiling baby in his arms and paraded her around the waiting room, proudly showing her off.
Her parents, Venecia and Kevin Quigley of Kansas City, couldn’t help but smile. Amid the stress of having their first child operated on to remove a piece of bone from her skull, Jimenez’s caring gesture comforted them.
The affection with which Jimenez and his wife, plastic surgeon Constance Barone, treat their little patients has won them fans among families throughout the country who seek treatment for craniosynostosis at the University of Missouri-Columbia Hospital and Clinics.
Many of those families learned about the husband-wife surgery team from the Internet, others by word of mouth from other surgeons and pediatricians. Jimenez and Barone have treated tiny patients from North Carolina, Arizona, California—even Alaska.
In craniosynostosis, a suture in a baby’s skull (where the bones join together) closes too early, causing the head to grow unnaturally. Some of the babies’ heads grow exceptionally long and thin, or the babies develop a seriously protruding forehead or asymmetrical face with a drooping eye or nose. Doctors aren’t sure what causes it.
The most common form occurs in three to five babies for every 1,000 live births, usually in males.
Jimenez and Barone have headed MU’s craniofacial program since they were recruited in 1992. They want to try new things to put babies through as little trauma as possible.
That’s why they’ve developed endoscopic strip craniectomies to treat most of the craniosynostosis cases they have. The old way to do these surgeries was to cut open the child’s head from ear to ear, pull the scalp down in front and back, then remove the prematurely closed suture and remold the head using plates and screws.
They thought there must be a better way. So they started using an endoscope, which allows them to just make a couple of small incisions and then use a machine that lets them see inside the skull on a monitor next to the operating table. Then they do their surgical work.
The endoscope, along with their attention to detail, allows them to do the surgeries quickly and with little blood loss and swelling.
To Venecia Quigley, Jimenez and Barone aren’t stereotypical hotshot surgeons, too busy and too smart to tend to families’ fears and needs.
“They’re personable. They’re human,” she said. “They’re not above anybody else. The ‘Dr.’ in front of their name is just letters.”
Missouri was a bit of a culture shock for this husband-wife surgical team when they moved from New York City.
Barone looked out the windows as they flew into Missouri and thought, “There’s so much land. There are no big buildings. There’s just a lot of room and there’s cows everywhere. I said to my husband, ‘Are you on drugs?’”
But they decided to give MU a try. In their first weeks they wondered if they had made a mistake.
On one of their first Friday nights in Columbia, they finished working around 11 and wanted to find a good restaurant and have dinner.
Nothing was open. Not even the Dairy Queen.
Things have changed some, mercifully, and now the couple usually can find a restaurant open late. That’s good because their work at the hospital keeps them incredibly busy. Besides craniosynostosis surgeries, Jimenez operates on brain tumors and other brain conditions in adults and children. Barone also does many surgeries to repair cleft palates and other body part abnormalities.
Jimenez got his medical degree from Temple University in Philadelphia, and Barone earned hers at the Mount Sinai School of Medicine in New York. They met in 1985 while both worked at Temple University.
The craniosynostosis surgeries, which they do together, are especially satisfying. After all, what could be better than helping parents who are worried sick about their child’s diagnosis?
“We’ve really done a service,” Barone said, sitting in her husband’s office between patient visits. “When it’s done, they’re just so happy.”
That’s the goal Barone and Jimenez had in mind when they decided to take an old technique—the strip craniectomy, in which a small piece of bone is removed from the skull to allow it to grow normally—and married it to a newer technology, the endoscope.
In the standard surgery, the infants endured a lot of swelling and a large loss of blood, often requiring transfusions. The patients usually have to stay in the hospital for three or four days. Barone and Jimenez sometimes do the traditional surgery on older babies who need to have the condition repaired. They used to do it on every patient.
That was before they had a baby of their own.
When their son was born four years ago, they realized they wouldn’t want him to endure such an ordeal if he had craniosynostosis. They knew they had to develop a better way. The way they do it now, the infants have very little swelling, lose very little blood and usually can leave the hospital the day after surgery.
After surgery, the children wear molding helmets up to about their first birthdays so their heads grow into a rounder shape.
Some surgeons say endoscopic surgery has its own risks, though. A tiny slip could result in serious damage, or even death. But Barone calls the old way “barbaric” and says she doesn’t have a lot of respect for old-school surgeons—especially male—who have a condescending attitude toward their patients and toward new techniques.
“Some are so unapproachable,” she said. “Their results are great and nobody can question them. You ask them, ‘How do your patients do?’ ‘Good.’ You ask, ‘Do you have pictures?’ ‘No.’ ‘Do you have measurements?’ ‘No.’”
Jimenez jumps in. “(You ask) ‘Have you even seen them recently?’ ‘No,’” he said, laughing lightly.
Jimenez and Barone pride themselves on their follow-up with the 87 patients they’ve treated so far using the endoscopic strip craniectomy.
They see the infants several times in their first year of life. They always take measurements, charting each child’s progress toward a nice, round head. They have a Christmas party every year for the children who have had the surgery.
Families enjoy the personal attention during a heart-wrenching time.
As she sat in her living room recently, rocking her 4-month-old son, Jack, Kerri Smith of Shawnee recalled the first meeting she and husband Sean had with Jimenez, on May 31. The meeting lasted an hour and 15 minutes, much longer than their consultation with a local surgeon.
Jimenez used a skull model to show what they would do in surgery, and he talked about earlier patients fondly. He showed them a book of statistics on other infants he had operated on, showing how little blood they lost and how their head shape improved.
That persuaded the Smiths to take Jack there for surgery. Two weeks after the surgery, Jack wears a small helmet that is helping to shape his head properly. He will have to wear it until he is about a year old to make sure that the head doesn’t revert to the long, thin shape it had before the surgery.
Like many other families that have brought their children to MU for craniosynostosis surgery, the Smiths studied the team’s Web site before arriving for a consultation.
Jimenez said he welcomes all the research that families do on the Internet. He invites their questions, sparked by the information they’ve come across on the Internet.
Sean Smith is in awe of the two surgeons, who care enough about their patients to try to find less traumatizing ways to do surgery. Looking across the room at little Jack, his head round in its little helmet, Smith said, “I think they’re absolute geniuses.”
Columbia Daily Tribune
July 15, 2002
University of Children’s Hospital Surgeons Mark Milestone in Missouri
By Katie Tiernan
With the insertion of a miniature camera and scissors beneath 2-month-old Charlie Licata’s scalp yesterday morning, two doctors at University Children’s Hospital passed the 200-patient milestone for their revolutionary skull reconstructive surgery.
David Jimenez and Constance Barone, a husband-and-wife surgery team, developed the procedure as a way to eliminate the blood loss and long recovery time of traditional reconstruction. The doctors specialize in fixing a skull deformity called craniosynostosis, which is caused by the premature hardening of an infant’s skull.
Babies are born with incomplete skulls made of separate bone plates that eventually expand around the rapidly developing brain then fuse and harden once the brain has grown.
With craniosynostosis, however, the skull fuses too soon. That can cause several problems, including severe facial deformities, blindness and psychological problems. Doctors are still debating whether it causes brain damage, Jimenez said.
Bone plates at the top and back of Charlie’s skull had already fused, allowing his brain to grow only toward the front. Left untreated, his skull would have bulged over his eyes.
“Probably when he was about 2 weeks old we started noticing his head wasn’t shaped right,” Charlie’s mother, Terry Licata, said. Doctors diagnosed craniosynostosis when Charlie was 7 weeks old.
“You always hope for the best, you try to prepare yourself for the worst, and when we got the news it wasn’t really a surprise,” Tom Licata said. Though the couple suspected something was wrong, they were still devastated by the diagnosis.
Their biggest fear was the massive surgery, called a craniectomy, that most doctors use to fix the deformity. Doctors cut the infant’s scalp from ear to ear, peel back the skin, remove and reshape the bones of the skull, then replace them using wire, metal plates and tiny screws. The surgery takes several hours, typically requires a blood transfusion and usually requires recovery in intensive care, Jimenez said.
Jimenez and Barone, however, developed a less-invasive procedure. Using a few small cuts to the scalp, they insert endoscopes (flexible tubes equipped with cameras) and separate the scalp from the bones of the skull. With tiny scissors beneath the scalp, they cut away the strip of fused skull then stitch up the scalp incisions. The procedure usually takes only 35 minutes to an hour, Jimenez said, and patients almost never need blood transfusions.
After the operation, the doctors make a plastic helmet that the baby wears for several months to keep the skull in the right shape as it grows, eliminating the need for metal plates and screws.
The Licatas chose the new procedure over traditional craniectomy. They left their home in Raytown at 5:30 yesterday morning to come to Columbia for the 10 a.m. surgery, which was the 200th endoscopic procedure Jimenez and Barone had performed in three years.
Charlie’s surgery lasted longer than expected, but the team finished by 1 p.m. Charlie and his parents were expected to go home this morning.
Though the grateful parents of Jimenez and Barone’s patients praise the new procedure, others criticize it.
Todd Maugans of the University of Vermont College of Medicine has said in published editorials and interviews that he doesn’t think there is enough long-term evidence to justify replacing the old method. Though he said a less-invasive operation is attractive, he suggested a more complete study of the Jimenez-Barone procedure before doctors copy it.
Jimenez stands by the innovation. “Our longest follow-up is six years,” he said.
Jimenez explained that the human brain is 85 percent of its adult size by the time a child reaches 3. “If I have a child who looks normal at the age of 3, the likelihood of that child looking normal throughout life is good,” Jimenez said. “The medical establishment is slow to change, and they really want to have proof. I think the more time that goes by, and the results continue to be as good as they are, people will have to accept them.”
The Licatas are believers, so much so that they will pay the $11,000 bill for the procedure themselves.
That’s because the family’s health-maintenance organization, MidAmerica Health, won’t. MidAmerica wanted the Licatas to take Charlie to a pediatric surgeon at Children’s Mercy Hospital and Clinics in Kansas City, which is within its network. But surgeons there would have performed a traditional craniectomy.
MidAmerica won’t pay for surgery here because University Children’s Hospital is outside its network and because it considers the Jimenez-Barone technique “only a slight variation” on traditional procedure, spokesman Will Gregory said.
“We’re sympathetic, but we think it could have been done with the same level of confidence here.”
The Licatas, however, are confident in their choice.
“It’s amazing, the transformation,” Tom Licata said. “He looks so much better. Even just a couple of hours after the surgery, it’s reshaping itself.”
The New York Post
November 2, 2000
Son’s Illness Spurs Posada Charity Fund
By Adriatik Rexhepi
Yankee catcher Jorge Posada’s most trying experience during the 2000 season had nothing to do with slumps, or even baseball.
In August, Jorge and his wife Laura found out their infant son, Jorge Jr., was suffering a disease called craniosynostosis - a condition that causes the bones in a baby’s skull to fuse together before the brain has stopped growing.
The condition can potentially cause deformation of the skull and face, and the underdevelopment of part of the brain.
The Posadas kept their concerns outside the media microscope until surgery was performed on the boy and was deemed successful. Yesterday, the Posadas went public—both to announce a charity foundation to aid victims of the disease and, they hope, to alert parents to its existence.
“We wanted the surgery to be done before we said anything,” Posada said at a Manhattan news conference.
“It was a tough that week before the surgery. There were a lot of sleepless nights. After we heard the surgery was successful, it was such a relief.”
The disease is best caught in a baby’s first year, since that is when the head grows the most.
The Posadas first became concerned about Jorge Jr.—now 11 months old—when they noticed an irregular bump on his head. They immediately went to experts, and surgery was performed Aug. 7.
Laura said another reason they kept their son’s condition quiet was to keep people from constantly asking about it.
“Jorge needed to focus,” Laura said. “Until now, not many people knew about it. The rest of the team knew about it, but not many others. They were very supportive and kept it quiet for us. Jorge, amazingly, was great. I was so proud of him.”
Posada enjoyed his best season as a professional this year, hitting .287 with 28 homers and 86 RBIs. With all that he accomplished, including a fourth World Series ring, Posada is looking forward to seeing his son at a lot of games next year.
Posada’s teammate and friend Derek Jeter accompanied the 29-year-old catcher and his wife yesterday to kick off the Jorge Posada Foundation, part of The Giving Back Fund family of charities.
Proceeds will go to families of children who suffer from craniosynostosis, and to provide athletic programs for children in New York City and Puerto Rico.
Potential contributors can contact Posada’s charity through The Giving Back Fund at (617) 557-9910 or on the web at www.givingback.org
“With all that’s been going on, the fact that he can take out time to give back is great,” Jeter said of his teammate. “It was very hard on him, but he’s a strong individual.”
UK Newsquest Regional Press – This is Local London
February 14, 2001
Marathon mum to pound streets to say thank you
A Wimbledon mother whose daughter was born with a deformed skull is to raise money for the children’s hospital which she says enabled her child to live a normal life.
Joanna Tall, 38, is to run the London Marathon as a way of thanking Great Ormond Street hospital for operating on her two-year-old daughter Hannah.
Hannah’s condition, sagital cranio synostosis, is a skull disorder which is estimated to affect one in 25,000 people in the UK.
The disease involves premature fusion of the skull bones, which make it impossible for the head to expand as the child grows.
“When Hannah was three months old I noticed her head shape wasn’t quite right,” said Mrs Tall. “The top of the head is cartilage and that had fused together. The head couldn’t grow widthways, so it just grew lengthways. An operation is best when the baby is six months old, so we decided to go for it.”
The brave decision to go with surgery to reshape Hannah’s head ran a risk of brain damage, but the operation in November 1999 went smoothly.
“It was amazing she was out of hospital after five days and took only a few weeks to recover,” said Mrs Tall.
“I want to repay Great Ormond Street for all their care and for transforming my daughter’s life, which otherwise would have been a very miserable one.”
Steve Moody, chairman of Headlines: The Cranio Facial Support Group, said: “Surgery is only carried out on about 10 to 20 per cent of people because, in most cases, the condition is so mild that its not apparent.
“For the first two years of growth the skull must double in volume and if the bones are fused then this can cause problems. In most cases it is hereditary, but not always. There is a 50-50 chance of passing the disease on to your children.”
Mrs Tall is running the Flora London Marathon with her friend Kate Marsh, who is herself raising money for Ability, a charity for the physically handicapped. A spokesman for Great Ormond Street said: We have to raise more than GBP 12 million a year to fund research, building projects and to support families. So far this year we have 110 runners in the London Mara-thon and without fundraisers like Mrs Tall the hospital would be a lot worse off. For more information about sagital cranio synostosis call Headlines on 01926 334 629 or visit www.headlines.org.uk
Times-Picayune (New Orleans, LA)
March 22, 2001
Colleagues, friends support sick baby
By Christine L. Bordelon; Kenner bureau
Dylan Tujague is a fighter. Born seven months ago with craniosynostosis, a premature closing of the skull bone, the Kenner baby has undergone four surgeries and has two more procedures scheduled in coming months.
The family has medical bills surpassing $1 million since Dylan’s birth, and a $2,700 monthly equipment bill to run his tracheotomy, ventilator and other equipment. Several friends and associates have stepped in to offer their help.
Last November, former business associates of the Tujagues held a benefit at Mike Anderson’s restaurant in Metairie that raised about $7,500.
And on Sunday, from 11 a.m. to 3 p.m., other associates, from the Insurance Women of Greater New Orleans, have organized a dinner of jambalaya, spaghetti, and red beans and rice for the Tujague family at the VFW Post 6640, 3314 Richland Ave., Metairie. Donna Tujague once was president of the group.
Joy Sublette of Kenner is one of the organizers of Sunday’s fund-raiser. She had worked with Tujague and offered help after Dylan’s birth. She stayed with Dylan several times in the hospital to give Donna Tujague a needed break.
“Hearing day in and day out all the hardships that Donna was going through, I wanted to do something,” Sublette said. “I came up with the idea of a fund-raiser and got some other girls together, and here we are.”
Dylan’s mother, who also has a 4-year-son, Dalton, was informed recently that her insurance maximum for the year on equipment expired in February, so fund-raisers help defray some of the cost other insurance doesn’t cover.
Tujague said she finds it amazing that so many business associates have stepped up to help her family.
“It’s heartwarming. It brings tears to my eyes... I still cry a lot,” Tujague said. “My son is an angel from God, and these are the people who are rallying around him. They are helping without being asked.”
Tujague and her husband, John, learned of Dylan’s condition during an ultrasound when she was 34 weeks pregnant. One in a million children are born with the disorder, she said, but local doctors told Donna Tujague they had only seen the severity of Dylan’s case in textbooks.
She said when he was born, he was put in intensive care at Children’s Hospital in New Orleans for 4 1/2 months. She said she didn’t miss a day by his side during his entire hospital stay. She quit her job in the insurance industry to be with him.
“He’s got a lot of potential,” Tujague said. “That’s one of the main reasons I left my job. He wouldn’t be as far as he is now if I hadn’t been there every day.”
While he’s developmentally delayed in some areas, such as not being able to hold up his head because of the heaviness of the bones, Donna Tujague said he now shakes his head no and reaches out for toys.
“Life is 100 percent different with Dylan,” Tujague said. “I no longer have a career but I have this wonderful little baby... I feel like I’m part nurse, I’ve learned so much. He has brought me so much closer to God and my family.”
Tujague sought the support of parents of children with the same disorder, but found none locally. She’s been talking to a parental support group, About Face, and hopes to one day start a local chapter to help other parents.
But, right now, she’s concentrating on her son.