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.

Buying a house!

Exciting news:  Kenny and I just bought a house!  We rented for our first three years in Virginia Beach, and we are both very excited about 1) owning rather than renting and 2) the particular house we bought.  I am also pretty excited that our new zip code is the easy to remember, numerically ordered 23456.  Here are some observations from our recent bout of home shopping (listed in - my favorite - bullet points):

• HGTV effect:  You could really see the influence of shows like House Hunters in people's choices about how to upgrade their homes.  We saw many, many homes with granite countertops and stainless steel appliances where there were glaringly obvious other things that should have been fixed first (like paint the walls, change the carpet, etc.).  And I am not immune to this effect...I would see a house that needed a new roof or something major, but my thoughts would linger on the granite countertops.
• On a related note -- it's so easy to start wishing you were shopping for a fancier house, no matter how high your actual price point is.  This blog post, one of my favorites by anyone ever, is a helpful anecdote to that.  
• Advice to sellers:  If there are easy things to repair or clean up, it is well worth the time to do so before putting your house on the market.  If buyers like the house overall but see things like a weird wire coming out of the wall, or an unflushed toilet, or a hole punched in a closet door (all real examples we saw in the last couple months), it makes you wonder what other problems or dirtiness you're not seeing and casts a bad light on the whole house.  
• Home buying to home owning is like this throwback blog post:  You spend 10-15 minutes previewing a place, and have to decide based on that brief glimpse whether you should make a major financial commitment to it and make it the space where you will live, possibly for decades.  You have no idea in this quick viewing what you will most love and hate about the house.  
• The process can be an emotional rollercoaster:  Getting through offer, counteroffer, home inspection, and closing is a surprisingly nerve-wracking experience.  You have to try to guess the right market price, which is sometimes very close to the list price and sometimes tens of thousands of dollars off.  You have to guess whether the seller is eager to sell quickly and willing to take an aggressive offer or whether they feel like their property is worth the asking price and will be offended and walk away if you make an offer that's too aggressive.  You have to hope that things go well with the home inspection.  And through that process, you have to be ready for the possibility that buying this house will not work out, right when you're most eager to be excited about moving in.  That's why it's so exciting to get to closing day!

We closed on our new house today and we are moving in this weekend.  For those who live in Hampton Roads, we are moving to the Salem area of Virginia Beach, which is pretty close to where we live now.  Unfortunately, Joshua will have to switch to a new preschool as part of the move.  We've heard good things about the new school, but would love prayers for the transition.  Time to go pack some boxes!

Is American Parenting Killing the American Marriage?

I've seen this article -- How American Parenting is Killing the American Marriage -- shared many times on my Facebook feed, and it seemed to resonate with many of my friends (and many of their friends).  I think it's a great discussion piece with some valid points but also some ideas I really disagree with:

Valid points (directly quoted from the article):  

• "Children who are raised to believe that they are the center of the universe have a tough time when their special status erodes as they approach adulthood." 
• "Couples who live entirely child-centric lives can lose touch with one another to the point where they have nothing left to say to one another when the kids leave home."

Important qualifiers that the article does not address:

• You might be totally on board with the idea that family life shouldn't be child-centric, but I don't know how you practically make that work when the kids are young and/or special needs.  They need help with their basic needs all day long, and unless you have the money to hire lots of help, your life is going to revolve around the kids for the first few years.  The author claims that this is not the case in every time and culture, but I would like to see how that works.  
• "Children raised to believe they are the center of the universe" is not so much about how much time and attention you give to a kid, but about the philosophy with which you raise them and how effective you are at teaching them to be mindful and respectful of others.  (This is HARD and I am still figuring this one out.)
• Things that appear to be child-centric might be done just as much for the adults.  For example, I try to avoid making plans during my children's nap time, which appears to be a child-centric practice, but it also makes them less crabby for the rest of the day and helps them fall asleep more easily at night -- which makes my life easier and allows me to spend some time with my husband after the kids have gone to bed.  

Thing on which I think she's flat out wrong:

• That it should be publicly acceptable for you to say that you dislike your kid.  I don't mean that you should see your kid through rose colored glasses and not try to help them work on weak spots, or make excuses for bad behavior rather than correcting, particularly when it's destructive to others - but I mean that everyone else in the whole rest of the world will, at times, give them reasons to hate themselves, and parents should be the two people who offer a safe haven of acceptance and love to their kids.  

On American marriage:

• I think the thing that's killing the American marriage is the idea that the goal of marriage is romantic-comedy-style individual happiness and fulfillment, as opposed to for better or for worse (which is sometimes about each partner's individual happiness, but also about sacrificing, learning to grow together, supporting each other through hard times, and staying loyal during mundane times). Even if the author is right that parenting has turned into a religion and this is hard on marriage, it wouldn't be such a lethal blow if people didn't also have faulty assumptions about what a good marriage should be like.
• I think there are many ways in which American parenting strengthens the American marriage. Kenny and I consider raising our kids to be one of the most important projects of our life.  We've got spiritual goals that are more important (and many overlap with raising our kids); we've got career and life goals that are less important but still big; but raising our kids as well as we can is a major one.  Consequently, when I see Kenny spending time with the kids or doing any of the many other things that make him a good dad, it strengthens my love for him.  

What do you think?  As I said at the beginning, the original article seemed to resonate with many, so I'd be interested to hear any feedback.