Jordan was always a happy baby and child. However, as a mother my intuition told me something “was not right.” When Jordan was born he was a whopping 8 lb. 6 oz. healthy, baby boy. Or so, we thought. Within 24 hours of being born he was rushed to the NICU for vomiting and at the time there was concern of a possible infection. There were no signs of infection, but he remained there in the NICU for a week to finish the course of antibiotics.
That first year as new parents was BLISS. Yes, there was some projectile vomiting and the occasional trip to the pediatrician for respiratory infections, but those occasional trips to the pediatrician became more frequent as he got older. Jordan was a mouth breather and his pediatrician was concerned that this contributed to the frequent respiratory infections and worsening seasonal allergies. She prescribed allergy medication and a nebulizer, and off we went.
Then when Jordan was about a year and a half old we noticed that his eyes would turn inward. At age 2, we took him to our local optometrist. We were told that, “Yes, his eyes are turning inward, but do not worry. Since he is so young his muscles will strengthen with age…” and to return the following year for a follow-up visit. We did returned the next year. Now, Jordan was 3 and his eyes were not any better! We went to the same optometrist and were told once again, “not to worry.” The optometrist said that he would need glasses, but that he was too young and probably would not keep them on. Yet again he said, “Come back next year for a follow-up visit.”
During this time, Jordan was still vomiting intermittently. I recall vividly taking him to our local
urgent care and having an X-ray done of his stomach. We were told that his vomiting was caused by his bowels being impacted. We questioned the reason and were told that there was nowhere for the food to go but up. The explanation seemed logical at the time. We didn’t question it any further.
Then the comments began, “Is your son diagnosed with something?” To which we would always reply, “No.” Then at an urgent care visit, a physician posed the same question. My response was now different, “No, should he be?” His response, “Nope, just wondering.” His comment bothered me and we decided to speak with the nurse practitioner at Jordan’s pediatrician’s office. She understood our concern and immediately sent us out for blood work. To which everything came back normal, except for a food allergy to pork.
Jordan was now nearing age 5, and we were off again to the optometrist. The only difference this year was our insurance had changed and we could no longer use the same doctor. This was a blessing in disguise. I was at work and asked if my husband could take him to the appointment. Without hesitation my husband took him. There, he received terrifying news. He was told that Jordan had bilateral papilledema (swelling of both optic nerves) and that we needed an MRI done “stat” to determine if it was being caused by a tumor. These words impacted my husband harder than me, because in my gut I knew that was not the case. There had to be something else that was going on. I began the footwork, which meant calling our pediatrician for referrals to a neurologist and a pediatric ophthalmologist.
We waited an agonizing two weeks before we were able to be seen by the pediatric ophthalmologist. During that time, we kept busy and pushed the word “tumor” as far back into our minds as possible. We chose to not share any of the information with family, as we did not have any concrete answers. The appointment day finally arrived. The physician’s office was a good hour drive from our home and we were told that the appointment could take up to four hours. When we walked into the office, there were children everywhere. We waited our turn. Jordan had his vision tested and eyes dilated. The ophthalmologist looked at us and said he was stumped. He told us that if Jordan had a tumor, it would have only affected one optic nerve and not both. This was the first bit of reassuring news that we had heard. Five and half hours into the appointment, Jordan had fallen asleep and the doctor walked into the room again. He then looked at Jordan’s profile and did a double take. He turned to my husband and me and said, “Wow, I haven’t seen a case in years, but I am pretty positive that your son has Crouzon syndrome.” Elated, I turned to him and said, “I don’t know what that is, but it is 100% better than a tumor!” He then looked at us and said he had a college medical book in his office that was pretty dusty, but it would explain the gist of things. Before we left, we posed the question, “If this was your child, what would you do?” He told us to drive directly to the emergency room at Children’s Hospital Orange County to have his findings confirmed.
Crouzon syndrome is rare genetic condition that results in premature fusion of sutures of the skull, which leaves the skull unable to grow with the child. Other issues that arise from this condition include: dental problems due to crowded teeth, a severe under bite, poor vision, hearing loss, difficulty breathing due to a small airway, and possible fluid on the brain.
We followed the ophthalmologist’s advice and drove straight to the hospital when we left his office. We all stayed as a family in the emergency room triage, until a room was available the following morning. The next morning, Jordan’s MRI was performed. We waited for the confirmation of NO TUMOR. Sure enough, the neurologist walked in and casually said, “No masses, but Jordan’s skull is partially fused.” We were so relieved to hear “no masses” that the rest of his sentence didn’t resonate. He then told us that he would need to place a bolt onto Jordan’s skull that had a wire attached to it, which is then inserted into his head. This was going to check Jordan’s intracranial pressure (ICP), which was likely the cause of the intermittent vomiting. This information bombarded us all at once, at the time I could not process what he told us. I knew that Jordan was finally at the right place and we would FINALLY receive some answers.
That entire week was a complete fog. I am not the type of person that Googles medical issues, so my main priority was Jordan and taking care of him. My husband, on the other hand, started Googling immediately and kept trying to get me to look at his phone. I wanted answers from the doctor, not the Internet. Little did I know that the doctor would quickly turn into doctors… plural.
After our meeting with the Neurologist, we were paid a visit by the geneticist. She was kind and asked if she could take a swab of Jordan’s saliva, just to confirm Crouzon syndrome, which she was 99% sure that Jordan had. She looked at me and said that it was nothing that I did, or didn’t do, to cause this. She then explained that it was caused by Jordan’s genetic makeup. She then chuckled and looked at my husband and me and asked, “You aren’t related are you?” She said she had to ask for the questionnaire. She explained to us that the ear, nose, and throat doctor and plastic surgeon may stop by to check on us and introduce themselves.
We did meet the plastic surgeon, who left a sour taste in our mouths. There was no compassion in his voice as he explained skull surgery in vivid detail. Mind you, we were now on hour 36 of NO SLEEP and still trying to wrap our heads around what Crouzon syndrome exactly was. I looked at the Plastic Surgeon and asked if this surgery was going to be performed anytime soon, to which he responded, “No,” but that Jordan would require several skull surgeries over the next fifteen years. He then looked at Jordan’s hands and feet and told us that we were lucky that none of Jordan’s digits were fused. After he left the room my husband and I looked at one another and neither of us knew what to say at the time, we were in shock and scared for our son. At the time we didn’t know that Crouzon syndrome does not affect the digits, and apparently neither did the surgeon. This plastic surgeon is no longer Jordan’s physician.
Later, we consulted with a neurologist, Jordan was scheduled to have an intracranial pressure bolt implanted to measure the pressure in his skull. Doctors monitored the intracranial pressure bolt for less than 24 hours. They were able to tell a few hours into the monitoring that his intracranial pressure was high and that they needed to implant a ventriculoperitoneal (VP) shunt to control the cerebral spinal fluid around the ventricles in his brain. The surgery for Jordan’s shunt was the following morning and he came out of it like a trooper. He was discharged the following day. We were beyond thrilled to finally be able to leave the hospital after a week-long stay and drove the two hours home as fast as legally possible.
Not even five minutes after walking into the door, Jordan grabbed my leg and hugged it as hard as possible. He looked up at me and said, “Thanks Mom, I feel so much better.” Tears streamed down my face as I wondered how long he had been suffering. Not once did he ever complain. I still marvel at the fact that Jordan was misdiagnosed for all those years.
Just like our lives changed dramatically when we finally received a correct diagnosis, our lives also changed when we found Children’s Craniofacial Association. This summer, in June 2016, we attended our first Annual Family Retreat & Educational Symposium. It put life into perspective and showed us what really mattered: our family. Having a child with a craniofacial difference includes a lifetime of hearing the whispers and feeling the stares. But at Retreat and with our CCA friends, outsiders melt away. We are stronger together. We serve as allies to one another. Our children just want to feel included and safe and CCA makes it all possible.
We know that Jordan will have many surgeries, which is certain. Recovery time and frequency is not known, but we do know that we will have a huge support network surrounding us each and every time. I know I can call up my fellow CCA Moms and there is instantly an ear to listen to my fears and worries. I know that as Jordan grows up, he too, will rely on the support network of his CCA friends. They can text each other (well, maybe one day when he gets a phone!). The older kids provide excellent role models of how to walk this path with hope, joy, and a whole lot of fun, too. With the guidance and support of CCA we are now on track with Jordan’s Crouzon Syndrome diagnosis, and I am confident about our future.
It is with our greatest joy and sincerity that we ask you to open your hearts and donate to CCA during this holiday season filled with giving, so they might continue the work of connecting families and providing a safe, secure, and joyful place for families at the Annual Retreat.
The Watkins Family