Wednesday, September 10, 2008


I had 3 children during my pre-diagnosis days.
My youngest (Grace) was 4 when I had my surgery. Upon my diagnosis, I became very concerned about whether Chiari is genetic. I was told that there is only a very small percentage of familial incidence; less than 12%, with a then 50% chance of that gene ever becoming functional. I was told that there was no need to test my children unless they showed very obvious signs of ACM.

They were wrong. I should have had them tested sooner. All 3 of my children have varying degrees of Arnold Chiari Malformation, Syringomyelia, retroflexed odontoid, basilar invagination, Spina Bifida Oocculta and Ehlers Danlos Syndrome.

I will tell each of their stories during the next week.

Too little is understood about the genetics behind these conditions. The 8-12% familial incident rate needs to be looked at more closely. I would bet my titanium cranial plate that this number is hugely underestimated. While I know 8-12% is the actual percentage found among patient populations, I challenge how hard they’re actually looking at their patient’s families. All too often I hear symptomatic patients referred to as having “incidental asymptomatic Chiari” simply because doctors don’t understand the wide array of symptoms associated with Chiari.

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