Thursday, September 5, 2013

Summer recap!

School is in full swing!  We have gotten off to a rocky start but things seem to be smoothing out.  Luke started at the same elementary school as our big kindergarten boy this year.  They're both at Carman Trails in the Parkway district.  Ben is loving, loving, loving school!  Luke seems to be OK but he's had his ups and downs.  There was a lot of screaming at the beginning but as far as I can tell that has kind of eased up.  I hope.  His conference is coming up next week since his teacher is due to go out on maternity leave soon. 

Seattle was great!  We met with Dr. Dobyns, Dr. Mirzaa and their research assistant, Carissa.  We didn't get any huge new information but it was nice to see them.  They have discovered two other genes that are associated with MPPH syndrome.  I also found out that of those with the same gene mutation as Luke, only a few have polydactyly.  I really feel like Luke's syndrome will be renamed in his lifetime...maybe a few times as the doctore learn more.  The doctors are also continuing to seek out more children who have macrocephaly and PMG to see if they have any of the gene mutations they have identified.  I feel pretty passionate about this because the more children identified with this, the more information we have about Luke and what is happening or could happen with him.  At this point even if we are the ones providing information for those to come, we feel really good about that, too.  If we are able to provide someone whose child is getting diagnosed with PMG and macrocepahly any helpful information at all, I would love  that.  Soooo if you're reading this and your child has macrocephaly or just a larger than average head and PMG, please consider getting involved in research.  If anything it could at least give you an answer to 'HOW' this happened to your loved one....Here is a link that goes to their research lab if you are reading this and are interested:

Oh, and while we were there, Luke called these two great researchers Dr. Zombie and Dr. Booty.  Yep, that's my boy. 

The ear infection that I wrote about right before we left for Seattle ended up blowing out half of Luke's ear drum.  We found that out when we got back and went to have his mass removed.  The ENT couldn't repair the hole in Luke's ear drum because it's too large.  We have to go back in for hearing testing a few months to see if he has any hearing loss as a result.  AND we can't get water in his ear...ever...until it's repaired.  The ENT won't try to repair it until he's probably about 8 and ear infections are a thing of the past.  The mass turned out to be a ruptured cyst basically.  That was good new! 

Luke and Ben got bunk beds!  It's so fun to see them sharing a room.  They're doing great with it.  Luke has been getting up a lot in the middle of the night though.  One night he even came downstairs had some applesauce and played a game on the iPad! 

He's also been having some other behavioral issues/problems.  He's been much more easily upset which is unusual for him.  He's been really stressed out about loud things like the mixer, vacuum cleaners, my hair dryer, etc.  My friend, Jodi, vacuumed while we were at her house in Seattle and he still mentions it almost daily.  While we were there he checked her closet many times to make sure the vacuum was still put away.  Lucky for him we don't vacuum very often!!  Naturally we're concerned about these behaviors as well as a few other little things.  He's always had some sensory issues but they seem to be amping up a bit. 

He's up to full dose of his new seizure medication.  Currently he is on two medicines. I spoke with the nurse at our neurologist's office today about taking him off the old medicine soon.  We'd like to see if that changes his sleep patterns and some of his behaviors.  We're hoping it's that easy of a fix.  He's doing so amazing!  We are trying to be careful to make sure we're not missing anything.   If taking him off the first medicine doesn't work, we'll look at some other options. The new medicine seems to be controlling his seizures well - YAY!  Hopefully taking him off the old one won't upset his system.   

Today the boys had their first dentist appointment (don't judge me for not taking my 5 year old to the dentist earlier!!!).  Parents aren't allowed to go back with their children after they turn three.  I was seriously stressed about this.  I thought all hell was going to break loose.  But lucky for me, Super Ben was on the job!  He apparently took charge of Luke and was dragging him around the dentist's office and taking care of his little brother.  Luke cried a little but Ben was there to reassure him.  Luke is usually a little nervous about holding Ben's hand because Ben moves a little fast for Luke.  On the way out of the dentist, though, Luke wanted nothing to do with me - he only wanted to hold his brother's hand.  It was a great moment. 

Last (I think), I wanted to share a video of Luke's equine therapy program.  The video is a little long but Luke is in it several times.  I still haven't captured a great picture of the look on his face when he's on Dusty and they're's the best!  There are some great shots of him on this video, though. 

Take care! As always, thanks for keeping up with Luke!