By Monique France, Emma’s mom and Clinical Care Coordinator, Craniofacial Team at Connecticut Children’s

When our daughter Emma was born, I was fortunate to work as a nurse in the Division of Otolaryngology (ENT)   at Connecticut Children’s. Almost immediately we noticed that her nasal passages looked a bit narrow, so I mentioned it to the pediatrician and he took a quick look and said that she was fine. I mentioned it a couple more times and was dismissed, so I called ENT where I was working and scheduled her an appointment. It was there that it all began.

We saw Katherine Kavanagh, MD and she knew me as a nurse in the department, but treated me just like every other mom. She listened to my concerns and began to notice a few other subtle things that looked a bit different with Emma. Shortly before Emma turned five months old Dr. Kavanagh had shared that she thought Emma needed to see the Craniofacial Team and Genetics because she thought she may have Crouzon Syndrome.

What is Crouzon Syndrome?

Crouzon Syndrome is a condition that causes craniosynostosis, also known as a premature fusion of the skull, midface hypoplasia, which is a smaller midface, and in some cases may cause breathing issues eye problems, vision loss, hearing loss, and overall there is a distinct facial appearance. It’s rare, affecting only 1 per 61,000 births. Within the week, we saw both Genetics and the Craniofacial Team. After some testing and within a few weeks the diagnosis was confirmed.
Now that Emma had a diagnosis, we had a better idea of what to watch for, and what to do next.

What is the treatment for Crouzon Syndrome?

Before parents decide on surgery, Children with Crouzon Syndrome might see an Ophthalmologist to have their eyes checked, an Audiologist to have their hearing checked, multiple ultrasounds of the head , and a CT scan to check for premature fusion of the skull bones. In Emma’s case, the results showed that her skull was fused at multiple sites. We knew this would mean surgery, so next we meant with a Neurosurgeon and Plastic Surgeon both part of the Craniofacial Team to determine what the plan of care would be.

Craniofacial surgery at 7 months old

At this point, Emma was about seven months old, and surgery was scheduled for a Total Calvarium Remodel, for when Emma would be just about nine months old. What that meant is that the doctors would expand Emma’s skull in both the front and back of her head, placing dissolvable pins and plates to allow more room for her brain to grow. In the meantime, Dr. Kavanagh had ordered a sleep study and Emma’s results indicated that she had minor central sleep apnea, so she would briefly stop breathing and then wake herself and breathe just fine. This then earned us a ticket to see the Neurology Department, where we met Jennifer Madan-Cohen, MD.

Seizures from pressure in the brain from the skull

With all of this going on, we realized that we never had Emma baptized and wanted to have this done prior to surgery, so at eight months of age we planned her baptism. The morning of baptism, we were getting ready, and I looked over at Emma and it appeared to me that she was having a seizure. A week later, Emma was in her father’s arms and the same episode occurred. We notified her team of doctors, and also had a routine follow up with Ophthalmology who told us that at this point Emma had hemorrhaged her retina in one eye, and had swollen optic nerves on both sides, which they thought was due to increased pressure in her head.

It was the evening at this point so I called the Craniofacial Team office, and they contacted Neurosurgery and wanted us to bring Emma in first thing in the morning for another head ultrasound with the possibility that she may require a shunt to be placed to drain some fluid. My husband and I put Emma and her big sister, Abby, to bed and sat on the couch and cried together.

Emma has surgery earlier than expected

The next morning, we arrived at Connecticut Children’s and it turned out that Emma did not have too much fluid, but that her poor brain was being smushed by her skull. It was causing everything that was going on from the swollen optic nerves, hemorrhaged retina, irritability and possibly even the seizures. No shunt was needed at this time. It made sense why Emma cried so much, especially at bedtime because the pressure in her head was worse when you would lie her flat to sleep. With these results, the Craniofacial Team decided to move up Emma’s surgery to the following week.

Craniofacial and neurosurgery at Connecticut Children’s

I remember arriving to pre-op the day of surgery and Emma was so happy and playing, but all I could think about was that she had no idea what was coming, which I guess was a good thing. I can recall passing her off to the Anesthesia Team and she was smiling and waving goodbye as they carried her into the operating room. It was the longest seven and half hours of our lives. The Operating Room was great with frequent updates during the surgery, and the Craniofacial Team had prepared us that Emma’s appearance would change following surgery since they were expanding her head both front and back. As planned she did receive a blood transfusion and they were able to give Emma almost two more inches of room in her skull.

After surgery Emma was sent to the Pediatric Intensive Care Unit (PICU) for close monitoring. It was there, during the first night that we meant the most amazing nurse Ally Wooton. She was with us through our darkest hours, right by our side. Words can’t describe what Ally’s caring, kind, compassionate demeanor meant to us that night. As the next couple of days passed Emma’s eyes we swollen shut, which the team had prepared us for, but as a nine-month old baby that frustrated her even more. I can still remember the glimmer of light four days following surgery when the swelling began to decrease just enough that Emma could see a little bit out of one eye. She was so happy, and so were we because she seemed a bit more comfortable. By this point we knew we would get to go home soon, at least within the next day or so.

Arriving home was a bit scary, but to Emma she acted as if it never happened, which is why kids are so great. Over the next year we continued with multiple follow-up appointments with all of her specialists, and all seemed to be going well.

The seizures continue, along with more hospital trips, testing and a second skull surgery

Over the next several months, episodes of what we thought were seizures began to appear more often, at least every few weeks, which earned us a few more trips to the Emergency Department at Connecticut Children’s. After a couple of trips to the hospital we sat down with Dr. Madan-Cohen and developed a plan of care for when these episodes occurred so we could manage them at home. They were not sure why the seizures were continuing to happen, but it prompted further testing and the results coupled with what the Ophthalmologist found once again with swollen optic nerves, led us to skull surgery number two.

We felt better prepared this time knowing what to pack for the hospital, what to expect with Emma after surgery, and furthermore what our discharge home would be like. As any parents would be, we were still nervous and knew recovery would be tough because she was two now, and how would we ever keep her calm and entertained while she recovered? We knew her facial appearance would once again change, so a few days prior to surgery I began calling around looking for a photographer to take professional photos of her. I already fell in love her with face not once, but twice and knew that it would yet again look different following surgery. I loved that little face so much that I wanted to capture it. When the photographer heard our story she never charged us for the photo session, and as it turned out her daughter was a nurse at Connecticut Children’s.

The surgery day arrived, and six and half hours later surgery was complete, and Emma was heading to the PICU. To our surprise she did not look very different. They only operated on the front of her skull this time once again placing pins and plates and expanding her head to allow for her brain to have room to grow. Within a few hours after surgery Emma was sitting up in bed eating a banana and a peanut butter and jelly sandwich acting like nothing had ever happened. About five days later we went home, and back to life.

While I was home from work caring for Emma, I noticed there was a craniofacial nurse position that was open so I applied for it, and got the job. I have always said everything happens for a reason, and to me this was proof of that. There is a reason that my daughter Emma has Crouzon Syndrome, and that I am able to work where I do.

Frequent headaches at 4 years old required another surgery

Fast forward to March of 2017. Emma was now four years old and loving pre-school. She began complaining of headaches and eye pain, which then moved to what we thought were seizure episodes again. She was heading to the school nurse almost daily, and when she was playing she would start crying because her head would hurt. We went through most of her specialists; ENT, Ophthalmology, Neurology, Neurosurgery, Craniofacial, had an MRI done, and then a spinal tap, which gave us our answer. Emma had too much fluid in her head because her skull was once again compressing her brain. The Craniofacial Team began devising a plan to help Emma. By this time, it was May. The plan was that they were going to expand just the back of her skull to create more space for Emma’s “smart brain” as she called it.

We have always been very open with Emma with what is coming for surgeries, procedures or appointments, so we began to prepare her. She started telling her friends and teachers that her “smart brain” needed room so she would have surgery to open up her head. I am not sure how the kids in class handled it, but Emma seemed at ease talking about it.

This surgery took almost 6 hours and titanium plates were placed in the back of Emma’s head. The surgeons were able to go in through the same scar over her head and minimally shaved her head, you could barely even tell. The swelling was minimal, and once again Emma was up eating just a few hours following surgery. Besides some restrictions for a month following surgery, Emma was doing great. Immediately the headaches, eye pain, and seizures stopped. She woke up happy each day and was no longer complaining of discomfort.

To this date, Emma remains seizure free and is preparing for her next big craniofacial surgery.

Over the next few years Emma continued to follow up with her many specialists, which seemed to space out a bit, which was nice. She did go three and half years without seizures and was actually weaned off of her medication. Then in 2020 the seizures returned, and presented very differently. Once again Emma followed up with most of her providers to figure out why they had started again. After multiple tests and studies the providers could not determine a reason as to why the seizures had begun again. Emma was started back on her medication, and it took time to figure which medication worked best for her. Today, it has been two years since her last seizure and the medication seems to be working. Emma has regular follow-up appointments with all of her specialists, and some she sees more frequently than others. We are now in preparation for her next big surgery the Lefort 3 for her midface advancement, which should take place within the next year.

My husband and I are always thankful for Emma and how well she is doing. Now we try to raise awareness about Craniofacial disorders any way we can. We love Craniofacial, the patients, and their families. I don’t wish that Emma had to go through all that she has, but I am grateful that I understand firsthand what the patients and families go through.

Emilia Galarneau was born March 6 – exactly a week before the COVID-19 outbreak was declared a national emergency.

“The world seemingly shut down as we drove her home from the hospital,” says mom Brittaney. Two days later, she and Emilia’s dad, Eric, made the decision to pull their sons – William, age 2, and Benjamin, who turns 4 this month – out of day care. As the family got to know their newest member, they also got to know life in a pandemic.

Then things became more surreal.

Brittaney noticed a ridge down Emilia’s forehead, and started researching what it might be. Through “midnight Googling” and a craniosynostosis Facebook group, she heard about Jonathan Martin, MD, FAANS, head of the Neurosurgery Division at Connecticut Children’s.

She turned to Emilia’s pediatrician, Mina Farkhondeh, MD, FAAP, at Pioneer Valley Pediatrics, for trusted advice. Pioneer Valley Pediatrics is part of Connecticut Children’s Care Network, a partnership that ensures families have easy access to the best pediatric specialists.

“Since I had heard all about the safety measures at Connecticut Children’s, I was confident in reassuring the family that it would be safe to take Emilia there, even during the coronavirus pandemic,” Dr. Farkhondeh says. And she knew exactly which specialist they needed to see: the same Dr. Martin who Brittaney had in mind. “I know the excellent care Dr. Martin provides,” Dr. Farkhondeh says, “and my patients consistently tell me he explains everything very thoroughly.”

When Dr. Farkhondeh shared her recommendation, Brittaney replied, “That’s exactly who we want to see.”

“We were counseled and comforted”

Because of the pandemic, the Galarneaus first met Dr. Martin virtually. Brittaney sent Dr. Martin photos of Emilia’s skull using MyChart, available on Connecticut Children’s mobile app. Then they had a Video Visit for Emilia’s physical exam. Dr. Martin diagnosed Emilia with craniosynostosis, a birth defect in which the bones in a baby’s skull join together too early, eventually causing problems with brain growth and head shape. Emilia’s case required surgery.

Dr. Martin talked Brittaney and Eric through the options, and shared his screen to show them a comparison chart. Because Emilia was diagnosed at such a young age, they were able to choose a minimally invasive option: an endoscopic procedure that would go through Emilia’s soft spot and separate the fused bone plates in her forehead.

Even over video, Brittaney and Eric felt supported.

“We were counseled and comforted,” says Brittaney. “Dr. Martin embodies kindness. He was so thorough with how he explained things to us, and genuinely seems to care.”

At the time, non-emergency procedures and surgeries were paused due to COVID-19. While the family waited, they stayed in touch with Dr. Martin’s team via MyChart. Whether it was questions about Emilia’s skull, or a letter for their insurance provider, or help getting the helmet Emilia would need after surgery, they received responses right away, usually within a couple hours.

When elective surgeries opened back up again in May, Emilia’s was among the first to take place.

“I never once felt alone”

When surgery day came, visitor restrictions only allowed one parent to accompany Emilia. (Those restrictions have since changed – learn about current visitor restrictions here.) Brittaney and Eric decided that Eric would stay home with their boys, and Brittaney would take Emilia.

“I worried endlessly about caring for Emilia alone,” says Brittaney. But once she arrived at Connecticut Children’s, she says, “I never once felt alone. Every person was so kind and would do anything that I needed.” The nurses held Emilia and kept her calm while Brittaney ran to the café to finally get something to eat. A security guard tracked down a nurse to answer her questions. Dr. Martin checked in before and after the procedure.

The surgery lasted a little over two hours, and throughout it, Dr. Martin’s team sent Brittaney messages on her phone, via the EASE app. “It would ding and say, ‘Surgery’s begun, everything’s going great,’ and ‘Emilia is asleep now, everything went perfectly.’” Brittaney took screenshots to send to Eric, so he could tune in from home.

“I would not have been able to hand my baby over to anyone else”

Seven weeks after the surgery, Emilia – now just 4 months old – is happy and healthy. Her big brothers are “in love with her completely,” says Brittaney. “They argue about who’s going to hold her.”

She will wear a helmet for about a year – usually adorned with one of the many bows Brittaney purchased during pregnancy, which she’s since modified to clip to the helmet’s Velcro strap. Emilia’s care team at Connecticut Children’s checks in on her recovery by phone and MyChart. Whenever Brittaney has a question, she knows they’re just a quick message or call away.

“We are so thankful to Connecticut Children’s, and to Dr. Martin,” says Brittaney. “I would not have been able to hand my tiny 9-week-old baby over to anyone else. Every person we interacted with – from labs, to café staff, to intake, to the nurses, to those responsible for keeping the hospital clean – are truly our healthcare heroes.”

By Kathleen Mayko and Tony Sabonis, Maeve’s and Rowan’s parents

Our daughters, Maeve and Rowan, are typical precocious little girls. Maeve, 4, started preschool in fall 2018. She’s bubbly and vivacious, and she likes reading, dancing and animals. She lights up a room with her energy. She loves being outside, loves going to the library, and can write her name and count to twenty. Rowan, who turned 2 in February 2019, likes a lot of the same things as her older sister and follows her lead in interests. Rowan is adventurous and inquisitive. She’s the first to climb, jump or explore and loves asking “why?”. Each of our girls calls the other her best friend.

Looking at Maeve and Rowan today, you’d never know they each had neurosurgery within months of their births to correct craniosynostosis, a rare condition that involves a premature fusion of the bones in the skull. We were lucky to find Dr. Jonathan Martin, an expert in the treatment of craniosynostosis, as well as his wonderful team at Connecticut Children’s Medical Center. We owe our girls’ good health to them.

The first diagnosis

We tried for a long time to have children, so we were thrilled when we learned we were pregnant with Maeve. But when Maeve was born, we noticed that she had a misshapen head, with a pointed ridge on the back of her head. Initially, pediatricians thought her strange head shape was because of her positioning in the womb or the way she was lying in her bassinet.

We sought a second opinion and connected with a different pediatrician near our home in western Massachusetts. We found Dr. Jeannette Tokarz, who’s affiliated with Baystate Medical Center. Dr. Tokarz was concerned and recommended that Maeve have a CT scan, which led to a craniosynostosis diagnosis, specifically a fusion of the left lambdoid suture, when she was 3 weeks old.

Time is of the essence with craniosynostosis. The earlier you have a diagnosis, the more options you have for treatment and we were lucky to have such an early diagnosis. We also were lucky that Baystate Medical Center had recently formed a partnership with Connecticut Children’s for pediatric neurosurgery. Dr. Tokarz referred us to Dr. Martin, and because the partnership with Baystate was so new, we made the trip to Hartford to see Dr. Martin.

After multiple meetings with us, examining Maeve, and discussing the diagnosis and treatment options, Dr. Martin performed an endoscopic strip craniectomy to treat her craniosynostosis when she was 2 months old. Dr. Martin made a small incision in Maeve’s skull and cut a strip out of the fused skull suture that was about an inch long. That little strip opens the suture and allows the skull bones to move and be shaped by therapy after surgery. This endoscopic procedure only is possible in children who are younger than about 6 months, so we were fortunate that Maeve was diagnosed early enough for this to be an option, rather than a more invasive alternative that involves opening the skull during surgery.

A familiar problem

Given that craniosynostosis only occurs in around one in every 2,000 births, we were not concerned when we learned we were expecting our second child. However, when Rowan was born, we also saw irregularities in her head shape. We had concerns, but the doctors assured us that, in most cases, craniosynostosis isn’t a hereditary condition, and it was highly unlikely Rowan would have the same condition as her sister.

We continued to have concerns as Rowan grew, so we again consulted with Dr. Tokarz, who referred us back to Dr. Martin. He immediately recognized the symptoms and diagnosed craniosynostosis, specifically a fusion of the sagittal suture.

By this time, the partnership between Baystate and Connecticut Children’s was established, but we had such a positive experience with Dr. Martin and his team that we asked to go back to Hartford. Rowan underwent the same endoscopic surgery to correct her craniosynostosis when she was 2 and a half months old.

After craniosynostosis surgery

As part of the follow-up care from their craniosynostosis surgeries, the girls had to wear helmets. The helmets ensured that their skulls grew normally after surgery and that there would be no lasting physical effects. The helmets were created specifically for each girl. Maeve wore her helmet for about ten months, and Rowan wore hers for about eight months.

Additional follow-up care has been minimal. One month after each girl’s surgery, they completed developmental testing to ensure they were progressing well. Maeve also had another check before her third birthday and in each instance they passed with flying colors. They also have regular eye exams, to ensure they do not develop issues or symptoms.

We see Dr. Martin and his team for regular follow-up appointments, and he warns us that there’s a tiny possibility that the girls could be affected somehow down the road, but as the girls get older, it gets less likely that they’ll experience any future complications.

No words for our gratitude

As a parent, you feel helpless when your child needs surgery. Your whole purpose is to take care of them, to protect them, but there’s nothing you can do in this situation. You have to find a team of experts you can put your trust in, and that’s what we found with Dr. Martin and his team.

The nurses and coordinators we interacted with were always so kind and helpful. From the first time we met all of the neurosurgery team, they were so caring and understanding of what we were going through. It’s nerve-wracking when you think your little baby girl, whom you fought so hard to have, is going through this kind of surgery. But each of them did all they could to help keep us comfortable and informed. Even during the surgeries, they took time to update us and let us know regularly that things were going well. When you’re in the waiting room, desperate for reassurance, that small gesture is so important.

And, of course, we owe everything to Dr. Martin. His expertise is amazing. He treats our girls as if they were his, and he informed and comforted us through the entire experience. We can’t thank him enough for everything he’s done for both of our girls.  Every year during the holidays, we send a Christmas card to Dr. Martin and his team, and we always write them a brief note of thanks, but we can never fully put into words the depth of what they’ve done and how we feel about them. In a word, they are extraordinary.

We can’t imagine going anywhere else if our girls ever need serious medical care in the future. As parents, we have a duty to do what’s best for our kids, and we think the care at Connecticut Children’s is the best.

Two lives full of promise

When we were in the Connecticut Children’s PICU, each girl was gifted a blanket, something to keep them cozy during their stay. It was small gesture, but it’s become a big deal for us. We use the blankets regularly, and we talk with Maeve and Rowan about their blankets and their surgeries. It’s helped us turn what could have been a difficult memory into a positive conversation with our daughters. It also shows how each small detail was thought of and made significant by Connecticut Children’s staff.

Today, the girls are growing and thriving and their scars are small and usually hidden by their hair. If you didn’t know any better, you could never tell they had surgery. We don’t talk about it often, it isn’t something that comes up regularly in conversation, so people are always shocked and surprised when they hear the girls had neurosurgery when they were so young.

Because of the excellent care Maeve and Rowan received and their continued amazing growth and development, their experiences have become memories we can talk about, rather than something we’re living with every day of our lives. That’s an amazing thing. We’re very fortunate, and we have Dr. Martin and Connecticut Children’s Medical Center to thank for that.

Connecticut Children’s new Westport Specialty Care Center already has a happy family.

John B. Jr. — “JJ” to his family — is a giggly, boisterous 16-month-old from Stratford. Every couple months, he’ll visit the Neurosurgery team at the new Westport center, which opened its doors Dec. 15. This high-tech space is designed to feel welcoming and supportive for families, from constellations on the ceilings to woodland and ocean murals on the walls.

Mom Julianna remembers the moment that led JJ here. It began in the parking lot of a different health system, after a very different experience.

JJ was born with craniosynostosis, a condition where the skull bones fuse together too early. It was severe enough that, when he was 3 months old, his pediatrician urged Julianna and dad John to look into surgery. But the consultation at the other health system was a disaster.

As she walked out of the surgeon’s office, Julianna was fighting back tears. She called John from the parking lot. “I’m not giving our 3-month-old son to someone who doesn’t even have time to answer my questions,” she said.

The family meets Connecticut Children’s neurosurgery and craniofacial team, and schedules surgery right away.

Instead, they made an appointment with Markus J. Bookland, MD, a pediatric neurosurgeon and craniofacial expert at Connecticut Children’s. Going in, Julianna felt scared and exhausted. By the time she left, she felt confident.

“I had all of these questions written down on my phone. Dr. Bookland and his nurse practitioner sat with me and answered all of them,” she says. “We went over some of them multiple times.”

Dr. Bookland also explained that, contrary to what the other surgeon said, they shouldn’t wait for surgery.

“We scheduled the procedure for the next week. There was no waiting game. It was seamless,” says Julianna.

Dr. Bookland performed minimally invasive surgery on JJ’s skull, reshaping it so it wouldn’t put pressure on his growing brain. He and the Craniofacial team have kept close tabs on JJ ever since.

“As a first-time mom, you expect to worry about your child not sleeping through the night. You never expect your son will have something called craniosynostosis and need surgery,” says Julianna. “Connecticut Children’s helped us cope with all of that. We felt so safe there.”

They would need that “safe” feeling again from Connecticut Children’s after an unexpected, life-threatening turn of events.

By June, JJ was a few months from his 1^st birthday, just about ready to graduate from the helmet he’d been sporting since his craniosynostosis surgery. Normally, he was a dimply, smiley bundle of energy. But this day, he just wasn’t himself. He was feverish and fussy, and couldn’t keep anything down. Then he stopped peeing and pooping. The doctor at the closest hospital told Julianna and John to take him to a pediatric emergency department.

“There was no question of which one,” says Julianna. “I put JJ in the car and drove to Connecticut Children’s.”

Things happened quickly from there: tests, an ultrasound on his belly, plans for emergency surgery. Part of JJ’s intestines had folded onto itself, a life-threatening condition called intussusception.

Julianna and John were stunned.

“I had thought he was probably just dehydrated from not eating,” says Julianna. “You never think, ‘I could lose my son here.’”

An experience beyond imagination leads to a happy ending.

Pediatric surgeon Christine Rader, MD, FACS, removed part of JJ’s intestine as well as his appendix, freeing the healthy portion of his intestine and clearing the blockage.

After, she visited with Julianna and John to explain what they’d discovered during surgery. By this time, it was well after 3 a.m.

“Dr. Rader could tell I was sleep deprived. She would stop and check, ‘Do you understand what I’m saying? Need me to re-explain that?’” says Julianna.

“Connecticut Children’s saw my son as a patient who needed help, and me as a mom who needed to know that she’s supported too. They had my back.”

JJ spent 10 days in the hospital recovering from his emergency surgery in June. By the time he followed up with Dr. Rader a few weeks later, he was completely recovered. He doesn’t need any more follow-ups with the Pediatric Surgery team — but if he did, he could come to the new Westport Specialty Care Center for those too. The center brings nearly 20 specialties under one roof, from Cardiology to same-day appointments for Orthopedics and Sports Medicine.

Julianna is quick to recommend Connecticut Children’s to anyone who asks.

“We really believe that if it wasn’t for Connecticut Children’s, JJ may not be here,” she says. “Any time a family asks, ‘How was your experience?’ I say it was beyond imagination.”