Whole Exome Sequencing

We owe a tremendous amount of gratitude to the scientists that pioneered and developed Whole Exome Sequencing (WES).  Because of this cutting edge genetic test, we finally have a proper dx for our Darus.  It was not easy for us to get the test.

We requested pre-authorization from our private insurance company - but we were repeatedly denied.  We wasted 18 months before our geneticist asked, "do you have MediCal?"  She said that the test will be covered under Medi-Cal.

Unfortunately, I think a lot of kids that are dx'd w/ autism could have some underlying genetic anomaly that we just don't know about ... until WES is administered.  I urge any and all parents/caregivers that have a child with challenges/disabilities to push for this test.

Darus developed nearly inline with his peers the first 18 - 24 months of his life ... but around 18 months, when he had next to no words, I started to be concerned.  The pediatrician and others close to me felt like "he's fine" ... "he'll develop on his own timeline" ... etc.... I agreed with them.  By 2 years though, when there was really no improvement, that's when early intervention through the Westside Regional Center started and it's been a marathon since then.  (We now have a new pediatrician, Dr. H, who has been wonderful and very instrumental in referring us to all of the right people!)  I never really felt like autism fit Darus, but I accepted the dx because it meant getting the services that he so desperately needed.  Alas, I'm so thankful that I pushed forward to get the WES done.  Sure, it's been a tough pill to swallow, but overall, a complete godsend.  It has absolutely helped us to understand Darus so much better.  It's helped me to be more patient with him and it has changed our course of treatment.  For now, we've opted to leave the traditional autism treatment route that consisted of ABA & social skill therapies.  We are currently following the Stanley Greenspan DIR Floortime method/approach.  We have been more relaxed about potty training - knowing/believing that Darus will get there, when he's ready.  We've also relaxed our expensive & exhaustive speech therapy struggle and will eventually be phasing in an AAC device.  Overall, we have learned to be present with him, at whatever stage he is at, and I've been so thankful to finally have some understanding.

And, perhaps one of the major benefits of having the dx is that I've been able to connect with others who have been affected by PMS and I've been warmly welcomed into a community that I never wanted to be a part of but cannot imagine myself in any other place.  I now have a clear direction of where I'm going and where we should direct our research & resources.  I believe our collective perseverance and tenacity will ultimately help us advance science and find a cure.  Thanks to WES, we have a diagnosis, and it has given us friendship, understanding, direction and hope.