Tuesday, January 6, 2009

CADASIL

As some of you know, my dad had a stroke in summer 2007. Luckily, it wasn't debilitating, and he is still able to speak and get around. Although, he hasn't really been the same since. He is more emotional, and has some significant memory loss....especially short term memory loss.

Well, right before his stroke, we learned of a genetic mutation in our family called CADASIL. CADASIL is basically the premature thinning of blood vessels throughout your body. Because the brain is most sensitive, this effects CADASIL patients neurologically most often. It also explains the history of strokes, epilepsy and migraines in our family. Because it is genetic, there is a 50% chance that the child of a CADASIL patient will also have it. We know now that my Grandpa Dick must have had CADASIL, although he died before we ever knew about it. We also assume that my Uncle Jay (who had strokes and epilespy) must had had it. So, all in all, 4 of 5 of my dad's siblings have CADASIL...including him. We learned definitivly that my dad has it in an appointment last Monday. We are really fortunate to have a CADASIL reasearcher on staff in Ann Arbor, and even luckier that he spends one day a week at the Veteren's hospital there (where my dad goes). Dr. Wang leads the ONLY funded CADASIL research team in North America, so it's truly amazing that he is so close and accessible to us. Basically, there is no cure for CADASIL. It's something that can start as early as late 30's, although, my dad didn't have any symptoms until his 60's. I do have cousins in their 40's that had strokes and are struggling with CADASIL.

Since they can't treat CADASIL, the only thing they can do is offer the same preventative measures that they would do with stroke, such as; watching blood pressure, cholesterol, taking aspirin etc... So, since my dad has this, my brother and sisters and I have to decide whether we want to have the genetic test to see if we have it. I have already decided (for my kid's sake) that I definitely want to know. Since the researchers have determined the specific mutation in our family, all I have to do is send in a blood test (not the MRI and skin biopsy that my dad had done).

So, we'll see. I don't know what would be worse, find out that I have it, or finding out that my brother or sister's have it. Either way...it's scary. If you want to know more about CADASIL...check out wikipedia...or just do a google search. http://en.wikipedia.org/wiki/CADASIL

2 comments:

tania said...

That's so great that your dad has access to a prominent researcher. I can understand your desire to take the genetic test - Jason and I are both participating in a clinical trial where we provided a DNA (saliva) sample and we'll soon find out our genetic risk for over 20 different diseases. We decided that we show know as much as possible about the genes we're passing on to our children, as well as giving ourselves the opportunity to start making lifestyle changes now.

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