Monday, September 17, 2012

More Blood Work at the Geneticist

More blood work today.  But this time, the blood work was to test Eric and I for the same genetic deletion that they found in Ephraim.  This will let us know if we have the deletion and passed it on to him, or if the deletion is newly formed within Ephraim.  You may be wondering what that deletion is and what it means for Ephraim.  Well, the answer can be found if you read on. ;)

So, Ephraim's microarray results showed a clinically significant loss of 15q11.2.   (For Ephraim, he has at least four genes missing in this sector of Chromosome 15.)   An excerpt from the results are as follows: "...Published reports have suggested that this deletion is associated with an increased risk for a variety of neurocognitive disorders including developmental, motor, and speech delays, neurological and/or behavioral problems, and idiopathic generalized epilepsy, with incomplete penetrance and variable expressivity. ..." 

Confused??  Here's a little break down.  Incomplete penetrance means that some people may have this deletion and show no signs of the deletion (therefore usually not knowing that they even have the deletion) and develop normally.  Variable expressivity means that the other people who have this deletion can show any number of developmental delays, which can vary from very little to severe.

Because Ephraim has a significant amount of delays, within all categories listed above except epilepsy (at this time), it is very likely that this deletion is affecting him developmentally.  This deletion however, does *not* mean that he won't have another separate diagnosis.  It is actually likely that he does have a neurocognitve disorder (which we will find out about on Friday).  If he does have a neurocognitve disorder (which as most people know, we are thinking he has ASD), the deletion may have helped play a part in "why".  It is likely that we will never know all of the "why's" though, since genetics is only one of many factors.

Just as a little side note.  Some people like to use Google.  If you so choose to do so to learn more about Ephraim's deletion, please bear in mind that you will mostly find information on 2 different syndromes, Angelman's Syndrome and Prader-Willi Syndrome, neither of which Ephraim has.  To have one of those syndromes, Ephraim would need to be missing a larger portion of the Chromosome.  Yes, the part that he is missing is also missing in people with AS and PWS, but his is only a small portion in comparison which leaves him with no known syndrome at this time. 

Now that we have that information, we are onto his psychological evaluation on Friday to determine whether he has ASD or something else (or nothing at all, which is unlikely).


  1. OK, one question and I know I should know, lol! What is ASD?

  2. Stacy! of course you should know!! Silly lady! :P It stands for Autism Spectrum Disorder. :)

  3. I am so glad you guys are *finally* getting some answers!