Saturday, December 27, 2014

Health Issues: Craniosynostosis

Imagine learning moments after your child was born that he or she was develomentally delayed... then finding out that wasn't true. This confusion is just one of the many issues faced by parents of a child with Craniosynostosis -- a cranial birth defect. Kase Johnstun, who himself was born a 'Cranio Kid,' traveled the country interviewing families and experts in a lifelong search for answers. I had a chance to interview him to learn more.

When my wife and I got pregnant with our now three-year-old boy Lukas, I became extremely nervous about passing craniosynostosis down to him. I worried at ultra sounds, grabbing my wife’s hand in fear when she grabbed mine in excitement (though I would find out later in my research that it’s difficult and rare to diagnose the birth defect at that stage). My wife actually got a little angry with me because I wasn’t smiling, but, although I didn’t tell her until later, I was scared my boy might follow in his father’s cranio footsteps. So I started to do research to see if the birth defect was hereditary. I found out quickly that there were currently on-going studies to field this question, but no definitive answers in 2011 when I started this journey. I found memoirs, but they focused on one type of cranio — the type the child of the author had. And I found medical texts, but they were expensive and bulky and somewhat antiquated. I set out to write a book that spanned the spectrum between medical texts and memoir, knowing that at the end of the research, I would have to talk with my mom about her experience, and this was something I wasn’t looking forward to, as she hadn’t really been able to talk about it over the first 37 years of my life, only allowing herself to speak about my craniectomy and near-death experience due to too much blood loss for a few minutes before starting to tear up or change the subject. I believe it is the first of its kind in this arena. And I hope, since I chronicled the stories of eleven families, that one of them will make new moms feel less alone when they hear the diagnosis. 

How common are cranial defects in kids?
I can’t speak for other cranial defects, as there are many that are syndromic in nature, meaning that the defect may be tied to another syndrome, but for non-syndromic craniosynostosis (which is most common), I have found that the numbers range from 1-1,650 to 1-2,000. What frustrates me, a little, is that none of the most popular baby books even mention it. They all mention plagiocephaly (flat-head syndrome), and I believe it wouldn’t be difficult to say something like, “Ask your pediatrician to check to make sure the fontanelles and cranial sutures are wide open). Because, crazily enough, some pediatricians still miss the diagnosis. 

What are treatment options available?
From my research, I believe, and this is backed by most of the medical community, that surgery to release the fused suture is really the only option for treatment for all the sutures except the metopic suture, which is the only suture that has a grey area because it naturally closes within two years after birth — that said, many metopic sutures do need to be opened up if they close to early; this decision should be addressed by a craniofacial team made up of a neurosurgeon and plastic surgeon before a decision is made. Currently, there are two main options for surgery, and these vary in technique based on the surgeon. The first is Cranial Reconstructive Surgery (CVR): the craniofacial team, typically, removes the skull from just above the ear, breaks the skull into multiple pieces, and then reconstructs the skull with all the sutures in place, giving the brain enough room to grow outward over the next 20 years of the child’s life — there are many different techniques to do this, and much discussion about what technique is the best, but there are more than 250 surgeons in the country that are very qualified to perform surgery for craniosynostosis. The second option is the endoscopic release of the fused suture: this is much less invasive, as the doctors make two tiny slits in the skull and then remove the fused bone, creating a suture, through those slits. Following this procedure, most babies will have to wear a shaping, protective helmet for up to a year. There is no need for a helmet with the CVR because the doctors already shaped the skull. Both of these techniques have their benefits, and which technique is used depends on the child: when he/she is diagnosed, what suture needs to be released, etc. The craniofacial team will give parents the best possible option. 
 
How can families support parents of “cranio kids?"
They can listen. They can learn. The more families that know about this birth defect, the better the parents will feel less alone.

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