~Genetics Update~

I received a phone call from the University of Iowa Hospitals- Genetics Clinic this week.  As you know, we took Brycen in February to have his blood taken and tested to determine if the Autism can be linked to genetics.  There are always good and bad things to doing more testing...the good thing with genetics is that if it comes back positive in one area, we have our answer as to where his Autism came from...the bad thing is that only 95% or so cases of Autism can be linked to genetics AND if is is positive, that means that one of us gave him the gene (or combo of both of us) so guilt may follow the outcome.

Deciding to go ahead with genetics testing was not on our priority list when he was diagnosed.  I believe we needed to work through the grief of having a child diagnosed with a life-long disorder and to start on the task of getting him as much help as possible to help with the symptoms and hopefully begin to see improvement.  We decided that it was time to pursue genetics last summer (2010) so about a year after his official diagnosis and almost 2 years after he started regressing.  We called U of I to schedule an appointment and was put on a waiting list for all the outreach clinics in NW and Central Iowa.  When we were moved back to the Eastern side of the state (closer to U of I) in the fall for Mike's job, I called to updated our address and phone number and asked about getting us on the waiting list for this area.  It just so happened that they had started scheduling out February appointments so I booked us for the first one available that month in the Cedar Rapids clinic to save us a little drive time/gas.

Genetics testing consisted of a physical exam, measuring certain body parts, noting markings on the skin from an ultraviolet light, as well as many questions about pregnancy, birth, and anything & everything in his life up to this point.  Of course it also involved taking a couple vials of blood from him also.

The first thing they were testing Brycen for was Fragile X Syndrome which falls on the Autism Spectrum, but is in it's own category because it is linked to the mother's chromosomes.  People with Fragile X have some very distinct facial features and Brycen does have a couple of them so it was a logical test to have done.  His test came back negative, therefore if I am a carrier for this syndrome, it's not too prevalent in my genes.

The second test they run with the blood is Chromosomal Microarray Analysis.  Attached is a link that describes this: http://www.sciencedaily.com/releases/2007/03/070329092046.htm  This takes a very close look at all the chromosomes and notes even the smallest of issues.  This test did find something in Brycen's chromosomes...an actual duplication of a part of the 16q.  Science is not my best subject so I'm not going to try to explain much of what the lady told me on the phone.  At this point, they checked the database for any link of this chromosome to a disability and found none noted (yet!).  The next step in testing is for Mike and I to have our blood taken and tested to see if one of us also have this duplication.  If one of us does, then the duplication is probably nothing and not related to his Autism or we would also have it.  If we don't have the duplication, then we will go to the next step which might include further testing of Brycen and entering the information into the database to see if any more people show up with the same duplication.  One thing I did want to tell you is that the lady from the clinic did tell me that this area of the chromosome is linked to memory, language, and learning which ironically is where Brycen has so many Autism symptoms. 

I will definitely keep you updated on the findings after we are tested and get results!  It really could be nothing, or it could be the start of something big in determining why Brycen has all of this.  The other thing I wanted to note is that if you, family member, or friend has a child that has been diagnosed with an ASD or other developmental delay, I highly recommend you take the time for genetics testing.  Even if this was done more than a few years ago, this chromosome testing is new and very good at finding the smallest of issues whereas the old testing was very basic so having it done again with the new testing could provide you answers as well.  If this duplication is something to enter in the database, not much can be done research and testing wise on Brycen until others are tested and come forward with the same area of duplication.