We met with Dr. Arthur Aylsworth (a Pediatric Geneticist at UNC) yesterday to discuss Case’s chromosomal abnormality and to find out the results of the genetic testing we (Brian and myself) had done. As we expected, they couldn’t give us much information on Case because they don’t have any case studies identical to his to compare him to, however he did have blood drawn so that they could perform two more tests:
1. Microarray – http://www.ncbi.nlm.nih.gov/About/primer/microarrays.html As of right now, we only know which bands on the 2nd chromosome are affected, this more specific genetic test will tell us what genes, specifically are affected. Mostly this test with give the researchers more to work with, and won’t likely give US more information (right now, at least). The current research only has information on what some genes code for.
2. DNA Methylation – http://www.google.com/url?sa=t&source=web&cd=1&ved=0CBMQFjAA&url=http%3A%2F%2Fwww.aruplab.com%2FTesting-Information%2Fresources%2FTechnicalBulletins%2Fprader_willi_sep04.pdf&rct=j&q=Test%20for%20Prader%20Willi&ei=A9DjTJr8LoSClAfC7ZC3DQ&usg=AFQjCNEhZ4WU2CGUvXjdsZdlTHrk-aIfHA&sig2=dXinnfkpJ7pgQM3dCVDdvA&cad=rja A test that will confirm whether or not Case has a syndrome called Prader-Willi. Prader-Willi Syndrome is most associated with deletions on the 15th chromosome, but we’re thinking that perhaps the generalized cytogenetic testing that Case had done may not be conclusive enough to rule this out. Hey, if we can rule stuff out, I’m all for it.
As far as Brian and I are concerned, our blood work came back normal. Case’s chromosomal abnormality seems to be newly occuring, which Brian and I are relieved to hear. It means that there’s a less than 1% chance that this could happen again if we get pregnant. Good news to us.
The genetic counselor that joined Dr. Aylslworth yesterday in talking to us echoed him in saying that Case will be writing his own history with this, which is why we’re so open to have the testing and research done, not only for our sake but for everyone who may benefit from getting more information. Case had his picture taken for an abstract that they’re going to start on him (just like the scary ones that dug around to find online). I’m hoping Case’s abstract won’t be scary – it’ll be inspiring.
It will take a month to get the test results back from this latest round, so we’re thinking we’ll know some more just before Christmas.
Keep you all posted!
On a super positive note, Case ‘scooted’ yesterday to get a toy. It was not coordinated in the slightest, but it was his first attempt and success at actual movement. Progress! 🙂
Click on Link Below to see one of the videos I captured:
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