New diagnosis: 4q deletion syndrome

[Edited to add:  if you arrived on this page searching for information about 4q deletion syndrome, this post will give you better information.]

I wrote last month about how Joshua got tested for chromosomal abnormalities.  The results are in, and it turns out he has 4q deletion syndrome.  (His particular deletion is 32.3 - 35.2.)  For those who would like more information, this link gives a summary of the syndrome.  It is basically a description of all the things we already know about what's going on with Joshua.  (In case there is anyone new to this blog, here is a link to Joshua's story.)  So this is our new "umbrella" diagnosis - it explains why he was born with Pierre Robin Sequence, why he has continuing developmental delays, and why he has an assortment of other minor health issues / unique features.

Here's the good news:

• This doesn't immediately add anything serious to his situation, like a surgery or a bunch of new doctors.  We will have to get a few tests done (echocardiogram and a standard blood panel), but these are things he's had done before, so we know these are very unlikely to reveal serious problems.  
• It's reassuring to get this news at age four rather than at birth because we already know where he stands on a lot of these things.  In particular, we already know that he has developmental delays, but we also know that they are relatively minor, and we've been fortunate to get great help from PTs, OTs, and STs ever since he was in the NICU.  
• We've seen him make great progress in the past year, especially with speech and eating, and there's nothing about this diagnosis that changes all the positive development we've seen him make.  
• This is so obvious it hardly needs to be stated, but:  he's still the boy we know and love, and he's not any different just because we have some new information about his chromosomes.  

Here's what's hard:
I think this is true for every special needs / medically complex parent:   every time it feels like we can just relax, some new thing comes up.  It's a roller coaster.  And this particular diagnosis is a micro and macro part of the roller coaster.  Micro because it's the bump that we are currently facing.  Macro because  the nature of a chromosomal deletion indicates that we will be on this health roller coaster for much longer than anticipated.  Joshua's deletion is very rare (they estimate 1 in 100,000), and research on rare chromosomal conditions is very sparse -- so there is a lot about the future that is a giant question mark.  But there is now an increased possibility that he will face extra struggles throughout his life, especially in terms of learning / intellectual disability.  And that feels pretty overwhelming.  I came across two blogs that were encouraging to me this week, related to all this:  this one, in #3, #10, and #11 talks about some of the lovely things about being a special needs parent, and this one talks about trusting God in the midst of an uncertain future.  We would love prayers for Joshua's long term health, and I would love prayers about trusting God in the midst of this new diagnosis.

Here's the vindication for those of you who use Dr. Google:
We've all heard jokes about people who trusted really lousy information that they got from the Internet.  And on more than one occasion, I have "diagnosed" Joshua using WebMD or Facebook groups, and gone in to our pediatrician to find out I was way off base.  When I call to schedule appointments and I tell doctors that I'm concerned based on something I saw on the Internet, I can almost hear the eyes rolling.  But here's the thing - if your child has a rare medical condition, the Internet (and specifically Facebook support groups with other parents) might be your best source of finding new information, as parents may know more than professionals.  We decided to do genetic testing because of a discussion that came up on the Pierre Robin Sequence Facebook page.  One of the moms sent me the link to a brochure that described 4q deletion syndrome, and it seemed to match a lot of Joshua's distinctive characteristics.  So we got the test done, it turns out he does have 4q deletion syndrome, and the brochure provided to us by the geneticist is the exact same brochure I had read 3 months earlier on Facebook.  Just like with any source, you have to use common sense when determining the reliability of information from the Internet.  But there is a *wealth* of information on the Internet, particularly in networking with other parents, and if your child has a rare condition, this is one of the best ways to get useful information that you can use to advocate on their behalf.