Showing posts with label research. Show all posts
Showing posts with label research. Show all posts

Tuesday, January 4, 2011

Skull Design & Root Causes of Neurodegenerative Diseases



(Yeah ~ you've seen that gorgeous skull before ~ it's my very own) I stumbled upon the coolest blog this week ~ It's actually titled:

Alzheimer's, Parkinson's and Multiple Sclerosis, Getting to the Root Causes of Neurodegnerative Diseases

I did a search for Chiari within the blog and found numerous posts. Just glancing through some of the blog posts awakened the researcher in me like Rip Van Winkle after he snoozed way to long!

Here are a few snippets from the blog ~ Seriously, I think I could read the whole blog in one sitting and only grasp one-eighth of the meaning ~ it's deep and scientific and he's talking about us Chiarians ~ very interesting ~ what are your thoughts on the matter?

all humans are predisposed to the brainstem sinking into the foramen magnum due to its location beneath the skull.

Typically, the brainstem is surrounded by cisterns filled with cerebrospinal fluid (CSF) which allows the brain to float above the foramen magnum and base of the skull thus preventing contact with the bones of the base and foramen magnum. In a Chiari malformation, it is typically the tonsillar portion of the cerebellum that gets trapped in the foramen magnum.

the location of the brainstem and cranial nerves in relationship to the base of the skull and foramen magnum. Their location makes them highly susceptible to compression by either an increase or a decrease in CSF volume in the cisterns.

A short length in the base from the front to the back of the cranial vault, predisposes the brain to crowding and a condition called Chiari malformations in which the cerebellum or brainstem gets pushed down into the foramen magnum. Chiari malformations can block both venous blood and cerebrospinal fluid (CSF) pathways causing CCSVI and hydrocephalus type conditions. Chiari malformations used to be considered as a childhood problem for the most part. However, recent studies show that trauma can cause Chiari malformations in adults. What’s more, Chiari malformations have also been associated with multiple sclerosis.


And did I mention all of the pictures and diagrams on the site? Amazing!

Monday, January 3, 2011

Rogue DNA

One of my resolutions for 2011 is to start actively blogging again. I have about 80 drafts of blogs just waiting to be posted ~ many a time I have started with great intentions only to loose my train of thought in mid sentence...

About a year ago I found a website looking for Chiarians for a genetic study. Of course I definitely wanted to be included in the study and inquired as to what was involved. After a long conversation with the study's coordinator I found out that there would be some paperwork inquiring about the medical history of me and my family and a phone interview. Then, there would be a traveling phlebotomist that would eventually be in my area, come to my home and take blood samples from all family members.

Given the chance to contribute to research and science for the chance in finding a cure for Chiari ~ I was beyond thrilled to share my DNA. Although many doctors are in denial, Chiari couldn't possibly be genetic! Where's the proof? ~ WE know that it most certainly is and this genetic study will further prove the connection.

The Genetics of Chiari Type I Malformation is still looking for volunteers ~ you, too, could contribute to science and possibly help us find a cure for CHIARI! I have printed the details below ~ If you have any questions, please feel free to contact me.


The Duke Center for Human Genetics is actively recruiting families who have TWO OR MORE family members with Chiari type I malformations, with or without syringomyelia. These family members must be related to each other by blood, and BOTH must be willing to participate. At the current time, we are not able to enroll families in which the only diagnosed members are a parent and child. If the family meets these criteria and wants to receive study participation information, please contact the study coordinator at 1-877-825-1694 or
chiari@chg.duhs.duke.edu. More information can be found on our website