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 are so grateful to have found CCA. We are passionate about sharing the news with others! We have been
fundraising since Retreat because we know we never want to miss this event
again and we want to help more children find this place of joy and acceptance.
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.
Season’s Greetings,
The Watkins Family
