Beyond Crouzon Syndrome: Emma’s Story

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.

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.