• Neurology Patient Stories

    Advanced Surgery Corrects Rare Birth Defect for Two Brothers

When a rare disorder was identified in the Doyles' eldest son, they chose the experts at Mayo Clinic to treat and manage his condition. Two years later, when the same disorder appeared in their second child, they didn't think twice about where to take him for care.

Parenting a child with an uncommon birth defect that altered the development and shape of his skull was not the scenario Andrew and Carissa Doyle envisioned when they had their firstborn, Thomas.

But the family weathered the challenge, thanks to the expertise of Thomas' team in the Mayo Clinic Children's Center and the departments of Neurosurgery and Plastic and Reconstructive Surgery. The team guided them through the little boy's surgical treatment and helmet therapy for craniosynostosis. Thomas thrived and, as a result of wearing a helmet for a year, his skull shape changed from that of a football to an orb. "He has a beautiful head," Carissa says. "He's had no issues. He's bright and funny and perfectly healthy."

When Thomas' therapy ended, Carissa and Andrew, who live in Monmouth, Illinois, decided to expand their family. They weren't particularly concerned about Thomas' condition making another appearance. "We were told that Thomas's situation was pretty uncommon, and we really had no reason to believe that it would happen again," Carissa says.

After their second son, Conrad, was born, however, Carissa and Andrew recognized that his head bore a resemblance to his brother's. The couple contacted Thomas' Mayo Clinic team and made an appointment with pediatric neurosurgeon Edward Ahn, M.D., who confirmed their suspicion. Conrad also had craniosynostosis.

"I don't recall in my practice ever taking care of two children from the same family that have had this condition," Dr. Ahn says. "It's a unique situation where the parents received good training with their first child, and they basically could be experts for the second child."

Dr. Ahn recommended an operation to correct Conrad's defect, and in February, he performed the procedure on the youngest Doyle. Although the baby still wears a helmet as part of his continuing therapy, recovery has gone well.

"We really, really thought highly of Dr. Ahn," Carissa says. "He just made the process smooth, and we had a lot of trust in him and his team."

Prompt, attentive care

Near the end of 2016, when Carissa and Andrew first learned at Thomas' two-month checkup that he might have craniosynostosis, they wasted no time learning more about the condition and its treatment.

"We'd never heard the name before. When we got home, my husband took to the internet to look up craniosynostosis," Carissa says. "He did all his research and identified the top three doctors who can correct the problem, with Mayo Clinic being one of the top facilities to treat it."

Craniosynostosis affects roughly 1 in 2,000 to 2,500 babies, according to the National Organization for Rare Disorders. In infants who have this condition, the fibrous joints, or sutures, of their skulls close prematurely. While most cases of craniosynostosis are isolated, a few variants of the condition are genetic.

"From that first day on, what just amazed me was how quickly Mayo worked and how they really, truly care about their patients."

Carissa Doyle

After doing his research, Andrew filled out an online questionnaire on Mayo Clinic's appointment request webpage. Within a day, the family had received a call from a Mayo scheduler and had an appointment at Mayo Clinic in Rochester.

"From that first day on, what just amazed me was how quickly Mayo worked and how they really, truly care about their patients," Carissa says. "They are so accommodating to people who live out of town. It's just been incredible."

The evolution of surgical treatment for craniosynostosis at Mayo Clinic has resulted in a less-invasive process that allows for faster recovery, Dr. Ahn says. Traditionally, patients undergo an operation called cranial vault remodeling to reshape the skull. "They have the surgery where we take apart the bones of the skull, reshape them and put them back on," Dr. Ahn says. "It's a very involved procedure, and we wait until babies are at least 6 months of age to get through the operation."

But the Doyle babies didn't have to go through that surgery. "The procedure we offer here is a newer type of procedure," Dr. Ahn says. "To be able to have that available for the family, as opposed to the larger open procedure, is an advantage. The baby doesn't experience a large degree of blood loss and most likely will not need blood transfusions. The hospital stay is short, and the scarring is much less."

At Mayo, the less-invasive procedure has become routine, and staff members are well-versed in the operation, Dr. Ahn says. "So our success rate in getting excellent outcomes in the shape of the head and getting the baby safely through surgery is very high."

Evolving treatment

Even using the less-invasive approach, Thomas' procedure in January 2017 was more involved than Conrad's in February 2019. Thomas required two incisions to remove the malformed pieces of bone. During Conrad's procedure, Dr. Ahn only made one incision. That difference in the surgical technique had a significant impact on the boys' recoveries.

"It was really scary, especially when Thomas woke up from surgery," Carissa explains. "He was crying and swollen, and it was really hard." With their second son, the process was less jarring. "After Conrad's surgery, he was calm. The nurses were holding him and soothing him in their arms, which was sweet," Carissa says. "He wasn't nearly as swollen as Thomas. He wasn't crying or upset when he woke up. He just had a completely different healing process."

Not only was Conrad's healing process easier than his brother's, but the time Conrad must wear his helmet is shorter. "Dr. Ahn's done research that shows that babies don't need to wear helmets for an entire year," Carissa says. "Once a child gets to a certain measurement of the width of their head, there's no real reason they have to wear a helmet after that because it's not going to get that much wider to make it worth wearing for any longer."

"One of our first memories (at Mayo) — and our favorite memory — is the piano playing. It's become a tradition that every time we go to the clinic, we walk over to the balcony and see the piano player."

Carissa Doyle

The news that Conrad wouldn't be required to wear a helmet as long as his older brother, who cycled through five helmet sizes before completing his therapy, was a relief to his parents. "I had the hardest time (with Thomas' helmet) for a couple of reasons," Carissa says. "I breastfed, and it was definitely uncomfortable. Every time I fed him, I would have a big red mark on my arm where I supported his head."

Carissa also says the helmet also got in the way of smooching her sons. "With the helmet, you don't get to kiss the cheeks so much, so after a while I just started kissing the helmet," she says. "I figured he could still sense the affection even though he couldn't feel my lips. The helmet just kind of became part of him."

Carissa's anxieties about the helmet extended beyond its physical aspects, too. "I was concerned what people would think," she says. "I didn't want people to feel sorry for him or think that there was something wrong because developmentally he was fine and perfectly on track."

Plenty of happy memories

Reactions to her son's tiny, helmeted head turned out to be not at all what Carissa expected. "People had the opposite reaction and asked where they could get the helmet," she recalls. "One older gentleman thought he looked like a little football player."

To help diminish the helmets' intrusion into their lives, Carissa recruited art students from a local college to paint the boys' helmets. Each of Thomas' five helmets received custom artwork from two art students. To date, Conrad has received two customized, colorful helmets. Conrad will wear his helmet for a few more months, and he'll continue to have follow-up care with Dr. Ahn.

"There's something in knowing that it's the best of the best. Knowing the level of knowledge of the doctors and nurses we worked with, there really is peace of mind and comfort there."

Carissa Doyle

Throughout all the boys' appointments and procedures, the Doyle family has found their trips to Mayo Clinic to be positive experiences. "From the moment we walked into the clinic, I was absolutely amazed at how beautiful the facility was," Carissa says. "One of our first memories (at Mayo) — and our favorite memory — is the piano playing. It's become a tradition that every time we go to the clinic, we walk over to the balcony and see the piano player. It's a nice way to ease in to the appointment."

The colorful, interactive waiting rooms; familiar volunteers who come by to visit with books; and ease of getting into and out of their appointments have made a lasting impression on the family. "It's amazing to me that a facility this size can be so accommodating to the fact that we're out of state," Carissa says. "They really try to pack in as many appointments in a small amount of time as possible."

But the ease of logistics is just a small part of Mayo's appeal for the Doyles. "There's something in knowing that it's the best of the best," Carissa says. "Knowing the level of knowledge of the doctors and nurses we worked with, there really is peace of mind and comfort there."