Email below was sent to our friends and family.  I fully realize that it's a lot of information - but this is the condensed version of what I went through the morning the doctor informed us of our son's syndrome.

September 30, 2014

Dear Friends & Family,

Darus has been diagnosed with Phelan McDermid Syndrome (22q13).  Jonas and I met with our UCLA geneticist, Dr. Barbara Crandall, this morning and learned the following:

Darus’ case is rare and different than the majority cases of PMS because of a change/mutation (not deletion) in the base of the SHANK3 gene on the 22nd chromosome.  It is heterozygous.  It is de novo – Jonas nor I are carriers.  The geneticist believes that this happened in either the egg or the sperm – preconception.  This would not have been detected w/ an amnio nor a cvs test because there was no chromosomal change.  The chromosome microarray that was performed in March 2013 did not pick this up for that same reason.  We learned of this variant mutation via WES (whole exome sequencing) trio.

“The c.4065_4066delTG variant represents a deletion of two nucleotides resulting in a frame-shift and premature termination of the SHANK3 gene.  This variant has not been previously observed in the general population.  Phelan-McDermid syndrome is typically associated with terminal deletions of 22q13.3 encompassing the SHANK3 gene.”

Dr. Crandall seemed eager to point out that Darus does not present with many of the characteristics that typically accompany PMS.  She, however, could not confirm our hope that perhaps his case is/will be more mild than a more typical PMS case.

The SHANK3 gene has gotten a lot of attention recently, as scientists believe it could be connected to autism.  Given all of the autism research currently underway, this is encouraging to me.

There is an exploratory clinical trial that involves using intranasal insulin that has been proven to help typical PMS kids (those w/ the deletion not mutation).  There is a child right now, that has the same dx as Darus (mutation not deletion), that is going to start this trial.  We’ve asked to be connected to his/her parents.  I’m hopeful they will be open to speaking with us about their experience(s).

I’ve registered Darus w/ the Phelan McDermid Syndrome Foundation.  I’ve also connected with a few groups online that I hope will be able to guide us down this new path.  Last, but not least, there is a conference in Washington DC in November that is going to address the SHANK3 gene, and I hope to attend.

Overall, we're doing okay.  It's a lot to take in/absorb/process, but it's nice to finally have answers and a better understanding of our sweet boy.

If you have any questions/advice/words of wisdom, please don't hesitate to send them my way.  This has been and will continue to be a learning curve for us.

Thank you all very much for your support,

With love & gratitude,
Abby