Genetic Testing Results

Shortly after we learned of Eli's diagnosis (SCID, specifically Reticular Dysgenesis), Logan and I were told that although there was a slim chance Eli happened to develop a random mutation, it was much more likely that Logan and I are genetic carriers of this condition and any of our future children would be at risk of being affected.  We put all of our energy and focus on Eli's health and knew that once we left the hospital we would have our gene mapping done in order to verify whether or not we are SCID carriers.

After Eli passed away, Primary's was incredibly helpful and told us to take as much time as we needed and that when we were ready, they would be happy to help us get our genetic testing done.  Not knowing how long this process would take, Logan and I decided to get it going right away.  Our blood was sent to a doctor in Boston that is studying Eli's specific type of SCID and we received the results this week.  While we couldn't help but have a little bit of hope that the results would come back negative, we were told exactly what we expected to hear: Logan and I are indeed carriers of Eli's type of SCID, Reticular Dysgenesis.  The chance of having a baby with this type of SCID is about 1 in 3 to 5 million.  In the case of Eli's SCID, if one parent is a carrier but the other isn't, he wouldn't have been affected.  Both Logan and I had to be carriers in order to pass it on.  It's a good thing we don't gamble because we have the worst luck ever! ;)

Our next step in this process is to meet with a specialist regarding our options which will probably happen in a couple months but we have a basic idea of what our future likely holds.  There is a 25% chance that any future babies we have will be affected.  While we know that one option is to "roll the dice" and get pregnant and hope we don't have an affected baby, that isn't an option Logan and I are willing to consider.  Fortunately Preimplantation Genetic Diagnosis or Embryo Selection through IVF would allow us to test the embryos before implantation to determine which ones are unaffected allowing us to only implant the healthy ones.  Logan and I know that our journey to having another baby will be long and have many obstacles but we couldn't be more grateful that there is a path available to us that we are comfortable with.

On another note...just like the rest of Utah, Logan and I watched the big "Holy War" last night with some wonderful friends.  I may rethink watching it with the same people next time because there's nothing worse than being surrounded by a bunch of obnoxious Utah fans and feeling like you're the lone Cougar fan.  Although most people are sad they won't be playing each other for a few years, I think I'm happy about it because now I won't have to watch BYU's losing streak continue!

Thanks for such a fun night, everyone!