Crouzon Syndrome: Maria Mar's Story
A parent’s love is infinite, fathomless.
That kind of love is demonstrated every day by all that moms and dads do for their children.
But the power of that devotion is never clearer than with parents who have children with medical challenges.
Ron and Maria Del Carmen couldn’t have imagined what would be required to keep their daughter alive and safe in her first two years of life — a journey that would eventually lead them to Johns Hopkins All Children’s Hospital.
Their baby girl was born in the family’s hometown of Guatemala City, Guatemala, in 2018. They named her Maria Mar. Maria is a beloved family name — and Mar (“sea” in Spanish) after her mom’s love of the ocean.
But Maria Mar did not look like other newborns.
Her soulful eyes seemed over-sized and protruded from her little face. She was whisked away from her mother at birth by medical staff in an effort to determine what might be medically wrong.
So began a long and disheartening journey in Guatemala to find the right diagnosis for Maria Mar. It was puzzling. … She would seem fine during the day, but at night she would wake up gasping for air. What was happening to their baby?
Her parents were desperate for answers — but they simply could not find the medical care Maria Mar needed where they lived.
“In Guatemala, not many doctors know about this condition,” Ron says. “They tried to understand what was going on with her, but they didn’t.”
After months of dead ends and misdiagnoses, the family was able to visit the United States and to receive an accurate diagnosis at a south Florida hospital.
Maria Mar was born with Crouzon syndrome, a rare syndromic craniosynostosis condition where the sutures (fibrous joints) in the skull fuse early, leading to abnormal facial and skull growth.
She would require major reconstructive surgery eventually, but doctors said she was too young — that she would need to wait a few years.
The family was sent back to Guatemala with advice to monitor their child’s breathing closely.
Things did not get easier. Maria Del Carmen and Ron sacrificed equally to keep their daughter safe — taking three-hour shifts each night — watching their child as she slept to make sure she was getting enough air.
Maria Del Carmen would often lie awake, worrying about her baby — before rising the next morning to meet the challenges of her demanding profession.
When it was Ron’s turn, he would keep one hand on his baby girl’s chest to make sure she was still breathing. It was an exhausting and frightening time for both parents.
“We slept with one eye open … all the time,” Ron says.
One day, during an ophthalmic exam, a physician discovered something alarming. Maria Mar’s condition was causing severe papilledema — a dangerous level of pressure on her optic nerve. She was at risk of losing her eyesight.
As it became clear Maria Mar would require the highest level of medical care sooner rather than later, the family stepped up their search.
They learned of some highly-skilled physicians at Johns Hopkins All Children’s Hospital in St. Petersburg, Florida — experts with extensive backgrounds in neurosurgery and in treating craniofacial anomalies in children — pediatric neurosurgeon George Jallo, M.D., and pediatric plastic surgeon Alex Rottgers, M.D.
But how could the family possibly make the trip to see them?
The world was in a pandemic. Airports had shut down. In the fall of 2020, a donation of private transportation would allow the family to journey to St. Petersburg.
Johns Hopkins All Children’s International Patient Services Team helped the family to coordinate their child’s care — escorting them to doctor visits, answering their questions and standing by for any help with translation that might be needed.
“We noted the abnormal prominence of Maria Mar’s eyes, typical of this condition,” Rottgers says. “And her air passageway and upper jaw were too small.”
Rottgers and Jallo considered surgery to expand the skull and to relieve pressure on the optic nerves — as well as a tracheostomy to help her breathe better — but they were hesitant to send her back to Guatemala with a trach.
Clearly, Maria Mar’s skull was not growing adequately. Neither were the bones around her eyes and upper jaw.
But it was her sleep study that would change everything. Results showed the toddler’s obstructive sleep apnea – a condition where breathing stops and starts repeatedly during sleep – was so bad that it risked injury to her heart and lungs.
“There was a risk of this child dying with this level of sleep apnea,” Jallo says. “That’s how severe it was.”
A compromised respiratory system, pressure on the brain and the optic nerve, the risk of heart and lung damage — all of these things together made Maria Mar’s situation dire.
Her doctors determined that major reconstructive surgery should not wait.
On Sept. 30, Jallo and Rottgers performed a craniofacial reconstruction called a monobloc osteotomy.
With the monobloc, everything moves forward — the skull, the brow, the mid-face and the top teeth.
“In that way, we expand the skull, take the pressure off the optic nerve, protect the eyes, and treat her breathing issues — all in a single operation,” Rottgers says.
Rather than leaving gaps or adding bone from another part of the body, surgeons place distractors under the skin — slender metal devices that help to slowly expand the skull.
It is a safer choice for Maria Mar.
“It works similar to a jackscrew,” Rottgers says. “When you turn the screw, the two plates separate. You’re slowly moving the bones to where you want them, and then you allow time for the body to fill in the gap.”
Maria Mar Made New
To her parents’ great relief, Maria Mar’s surgery goes extremely well. Right away, her quality of life begins to improve.
The family returns to Guatemala, where Maria Mar sleeps through the night without gasping for air. She is eating well. She is learning and playing normally.
Six months later, the family makes a second journey to Johns Hopkins All Children’s where the little girl undergoes a successful operation to remove the distractors.
The very next week, during a follow-up visit, Maria Mar is playful, chatty, dancing around happily.
She’s too young to know it, but she has much to be happy about.
Her CT scan shows her brain has filled the extra space that the surgery had afforded.
Her severe papilledema has completely resolved.
Her teeth are in alignment and her airway obstruction is close to 90 percent improved.
“I’m ecstatic to know all the ways in which we were able to help this little girl,” Jallo says.
Most striking is the change in Maria Mar’s appearance. The stigmatizing facial anomalies characteristic of this syndrome have diminished greatly. She looks more than ever like her mom.
“I’m hopeful she’ll continue to develop normally and just to remain the joyful child that she is,” Maria Del Carmen says.
This grateful family wants to help other children in Guatemala who have complex conditions to locate the medical care they need.
But first, the final trip home for a big family reunion by the sea — Maria Mar’s namesake — where there is an ocean of love awaiting her return.