AUSTIN

Austin was born February 7, 2000 with a "bump" on his forehead, not a long ridge, just the bump. Our doctor told us at 4 months that Austin's bump was an indication that the Metopic suture was fused.  However, no treatment was necessary, we would just watch it.  Austin's head circumference continued to drop in growth percentages on the growth chart with each well-check. However, his weight and height were dropping percentiles as well. Austin wasn't a big eater and slept a lot.  For a while we really thought he was just laid back like his dad. It was a nice change for me as our firstborn, Madi, was a crier as a baby. However, by 6-7 mos. of age we knew developmentally, he was already behind. And by 8 months of age, we decided to enroll in our county's early intervention program. Austin had large issues with balance. He didn't sit up until he was almost 11 mos. old and didn't crawl until 12 mos. He had lots of eating issues and sensory issues as well. 

By 15 mos., we had been referred to a developmental clinic. She had commented on his abnormal skull shape (her words were "dismorphic skull shape") but had also feared another neurological condition called chiari malformation. That doctor sent him for an MRI at 17 mos., which confirmed the chiari (type I) diagnosis. He had surgery for that at 18 months (Aug. 24, 2001), with all issues and problems returning 8 weeks later. We went back to the neurosurgeon and he didn't know how to help us. He insisted that the Metopic, that he had confirmed was fused, was no problem. So we sought another opinion again from a pediatric neurosurgeon in our state. He too said the Metopic wasn't a problem, although the chiari needed more fixing. So, November 19, 2001 came another chiari surgery. Within 2 weeks after that surgery, Austin was more miserable than ever and was again showing large intracranial pressure (ICP) signs. Little did we know the x-rays that were taken in August showed the ICP, but no one caught it. We called the neurosurgeon who had performed the 2nd chiari surgery and told him our fears of the Metopic and what was going on. He ordered a set of x-rays and again said the Metopic was no problem (however, ICP showed up of course on this set too, that again no one caught). He and his staff had made the comment, “He’s too cute to have craniosynostosis.  Aren’t you happy?”  No, we weren’t. Well, we already thought he was cute, but there was something terribly wrong. He was pulling his hair along the growing ridge that was now nearly ½” tall, he was rubbing his eyes and ears all the time, saggy eyelid (also we noticed changes in the degree of sagginess sometimes even in the same day), crying and screaming most of the day and night, sleeping and eating were horrendous if much at all, head banging, “spitting up” a lot, “sensory overload” (screamed to get in the bathtub), shrillness in his tone of voice and crying, issues with both fine and gross motor development, and the list went on. 

At this time, his head had not grown for over 9 mos. He was approaching 22 mos. of age, and his head hadn’t grown since he was 12 mos. old. This pediatric neurosurgeon (the second one we’d seen) refused to see it was all related even though there were so many red flags. He himself told me of a study recently out at that time from Children’s Hospital in Birmingham, AL. Their study reported that 30-35% of their Metopic Cranio kids also had chiari. This really said something to us and with all the red flags Austin had, we were shocked that no one would even consider it. I was desperate to find him help yet again, whatever was wrong. In my heart, I truly felt it was the Metopic. When we switched to our second neurosurgeon, we felt at that time in Oct. 2001 that his Metopic was truly a problem, but we were told the chiari had to be fixed first, before they could fix the Metopic Cranio. So we agreed. Two weeks after the 2^nd chiari surgery (end of Nov 2001), my desperation turned me to the internet to learn more about something I had no name for to even search on. We always referred to it as the bump, the line on his forehead. That’s when I found CAPPS. And that’s how we learned about Dr. Ben Carson (neurosurgeon) and Dr. Craig Vander Kolk (plastic surgeon), co-directors of the craniofacial team at Johns Hopkins Hospital. 

I put in a call on November 30, 2001 to Dr. Carson’s office, who immediately requested a 3D CT scan to view the sutures, which took place a few days later. That following week, we were asked to go out for an office visit as severe ICP had been found on Austin’s films (a scalloping look to the inside of the skull). When I talked to Judy, one of Dr. Carson’s physician assistants, it was like she finished my sentences nearly. Everything we had been begging for someone to listen to, she was hearing me. I cried several times, not for another diagnosis and another heart-wrenching surgery, but because there was hope and help for our son who was yet again deteriorating. 

We flew out for our appt December 14, 2001 for the first time ever getting an “official” diagnosis of Metopic craniosynostosis. We felt very comfortable with Dr. Carson and his staff. We left waiting for a surgery date that was supposed to take place in January 2002. However, after returning home, Austin was so miserable that he gave up eating and drinking. We put in another call to Dr. Carson’s office and we left the next day for Hopkins… with surgery to take place in 3 days, December 21, 2001. I never thought I’d find peace in the terms pediatric neurosurgeon, however, Dr. Ben Carson gave us overwhelming peace in our desperate situation. In fact, I think even Austin sensed our relief with getting him help that he smiled and played in the bathtub the night before surgery like NEVER before. And we were extremely grateful that they, as well as Dr. Vander Kolk, were able to arrange their schedules to help (Dr. Vander Kolk was soon to be married). After a grueling 6 hours, Austin emerged from the OR. I think I felt the most peace when the skull plates were removed and Dr. Carson surfaced to the waiting room. He let us know there was much pressure and that his brain came forward and relaxed. He also said Austin let out a big sigh when he removed the skull plates like he knew even under anesthesia that the pressure had been relieved. After that point, Austin was in much peace and our laid-back boy had returned. 

In October 2002, Austin took another downturn. His brain has finally caught up again with his skull, and needed more room. A CT scan indicated early re-fusion of the Metopic suture that had been opened, and possibly another suture that Dr. Carson was hoping would "blow open" between Nov 02 and Feb 03.  Although, to no avail. Austin’s skull needed expanded again due to the lack of head growth since the surgery over a year ago. The chiari symptoms were returning, which again indicated the brain was getting pushed downward since its filled up the space in the skull. There was also a return of large ICP symptoms, and the return of the narrowness of his skull shape again.  His skull was again expanded and reconstructed on March 5, 2003. We took him to the OR at 11am, but Austin didn't emerged from the OR until 7pm…and I thought the 1^st Cranio surgery of six hours was long…little did I know that this one would be turn out to be eight hours long.  They removed and reconstructed everything from just behind the ears forward. 

Today, April 28, 2003, as I sit and write this, Austin is better than we have ever seen him. Before March 5, his communication was nearly nothing with only a handful of words. It is amazing how many words he now has and how much he’s actually communicating with us. He’s gained well over 40 words in less than 2 months time…granted at 3 years old, we have a long therapy road ahead. Although, it is very encouraging that he is adding new words weekly, but most importantly that he is no longer in pain. 

We now have learned after meeting with the genetics team at Hopkins due to the Cranio study posted on CAPPS, Metopic is running largely throughout my side of the family.  Austin also has a sister, Madison, with Metopic craniosynostosis as well as the Chiari type I malformation. I have the Metopic “v” shape on the forehead, but no ridge palpable as well does my mom. Also, two of my aunts have ridges, in their hair, on the Metopic suture. Several other children in our family or extended family are also showing the Metopic forehead qualities. Therefore, the study through Johns Hopkins originally just for my husband, our children and me expanded to a large area of my extended family also. In helping with their study, we continued searching our families’ photo albums and discovered that even my great uncle Donald is Metopic also. Unfortunately, there are no remaining family members that can answer questions of his medical history, headaches, etc.  Hopefully, the large participation from our family will help shed light on what role genetics can play in craniosynostosis.

 We are forever grateful for CAPPS and the support and information it offers. It is how we found help from a wonderful, knowledgeable pediatric neurosurgeon and staff….finally. It is our goal though through sharing our story: 1) other children won’t have to suffer as long as Austin did, 2) to also help educate others that it’s a very treatable condition when caught in time and 3) when you feel there’s something wrong with your child, keep pushing until you find help.

~if you would like to contact me, please e-mail me at kaciking@hotmail.com and please include the word "Cranio" somewhere in the topic line.

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©Craniosynostosis And Positional Plagiocephaly Support, Inc.2001