Hunkered down!

Things have been going really well for Luke.  He's is over a third of the way through kindergarten and loving it!  He is socializing more and more with other kids which is probably my favorite thing that is going on with him.  His teachers, therapists and aides have been working hard to make sure he is successful.  He doesn't like to say hi or bye for some reason and sometimes doesn't respond when he is spoken to.  One thing they've done is when he responds he gets points and after a certain amount of points, he gets to see one of the school's two therapy dogs - that is great for him!!  

Last year one of our big concerns was writing.  Now he's writing and almost - ALMOST - willingly! It's not always his favorite thing to do but he's doing it.  He's still behind in this area but he's gaining skills quickly.  He knows all of the teachers first and last names and I'm not sure that he's NOT calling them by their first and last names.  For Halloween, he decided he wanted to be one of his teachers.  It was really cute!  We're really happy with how things are going for him so far this year.  

His seizures have been popping up about once a month since July.  He has finally topped out of the medicine that has been really working for over a year.  It's still 'working' but not well anymore.  Since he's at the highest dose our doctor wants to put him on we have to figure out what the next step is.  So we're going to be spending a little time at Children's this week.  He's having an extended EEG.  We just got here this morning and he was NOT happy being hooked up but he's doing ok now.  The doctors are going to take him off some of medication this week to trigger a seizure on the EEG.  They will start by reducing some of it and possibly removing some until he has a seizure.  So far Luke has never had a seizure while hooked up to the EEG.  His doctor wants to see where exactly his seizures are triggering from before she decides what is next.  There's a surgical device called a Vagus Nerve Stimulator (VNS) that is the leading choice right now but she has to see his seizures on the EEG before she decides.  So far he's had ice cream, sour patch kids, chocolate milk and is desperately seeking a popsicle!  I'm trying to make it as painless as possible!!!  

Since he's been doing pretty good since the middle of October we're really nervous about 'rocking the boat' right now.  But we don't have a plan once he breaks through again and getting into the EMU (epilepsy monitoring unit) is pretty difficult.  So here we are...Hopefully we'll get some good answers and be able to step in the right direction.  As usual, we have been blessed with an abundance of help with Ben and with my classroom which we're very grateful for.  We'll be hunkered down for the next couple of days enjoying some time together!!  

Working on homework!!!

MPPH Research

It's been so long since I've posted, I forgot how to make a new post!!  Whew, it's all coming back to me now!

Luke is now a  few months away from 5 - FIVE!  I can't believe it.  His seizures (dare I say it as we head into winter!!!???) have been mostly under control the last 5 months.  He had some questionable behaviors this fall and we increased his medicine and that seemed to fix things. 

He is blossoming right now as he is becoming more interactive with other peers.  He's always been fairly social with adults but interacting with his peers has been a challenge and frankly he seemed uninterested and sometimes afraid of his peers.  Ben has a friend whose little brother is just a little older than Luke and he's really sweet and persistent.  His persistence has paid off and now Luke looks forward to seeing him and plays alongside him.  It's really sweet to see. 

He continues to amaze us with his spelling powers!  He's reading simple stories and often spells as he is talking to us.  He'll say, "Are we going to g-r-a-n-d-m-a-s?" You have to listen closely to figure out what he is talking about sometimes. 

We have his kindergarten (!!!!!!!) transition meeting coming up sometime in the spring.  I'm nervous and excited at the same time.  I'm not sure what kindergarten should and will look like for him.  I want him to feel comfortable and successful and continue to learn a lot.  Writing continues to be a major issue for him and I know that will be difficult as he moves forward.  We started private OT therapy a little over a month ago.  I'm not sure if it's the new therapy but we've seen a lot of improvement since he started.  He's starting to be interested in writing and coloring.  We increased to twice a week and thanks to my in-laws taking him once a week, it's doable for our family. 

About two weeks ago, I had the opportunity to talk to Dr. Ghayda Mirzaa.  She is one of the doctors who is researching MPPH in Seattle.  Due to Luke's brain size and malformation his epilepsy is a little tricky.  This past winter when we were really struggling to control his seizures, I reached out to her to find out if they'd identified any children with the same gene mutation who was having a similar epilepsy experience.  The thought was - from us and Luke's doctors - if they have other kids who have the same gene mutation and  brain malformation then maybe they'd have similar epilepsy.  And maybe someone, somewhere was having better luck controlling it than we are.  The answer was no...no they don't have many more kids identified with the same mutation, no they're not sure about the epilepsy. 

Currently there are 4 children involved in their MPPH study who have the PIK3R2 mosaic mutation.  I know one of the families and have talked about him on here before.  His seizures have largely followed the same pattern as Luke's and as he is switching up medicines, his mom checks in with us to see what we've tried next, what has worked, what our doctor's plans are.  He's developing very similarly to Luke, too.  His mom and I talk often and come up with our own scientific theories:)! 

Dr. Mirzaa contacted me to check up on Luke but also to let me know that they are embarking on an in depth research study on epilepsy and MPPH.  She is teaming with the director of pediatric epilepsy at Washington University to look at MRI's, epilepsy videos, EEG reports and neurological notes to hopefully make solid connections about epilepsy and MPPH.  What that could mean for Luke would be better ideas on how to control his epilepsy.  The gene mutation that he has is the 'golden' gene of MPPH.  So far, from what they know, most of the kids with that gene mutation and epilepsy, have seizures that are well controlled.  There are two other gene mutations associated with MPPH and the seizure control with those mutations is trickier.  I'm really excited that her team is making an effort to get a better understanding of MPPH and epilepsy.

At this point, there is a relatively small pool of subjects that the doctors have to work with.  So what I'm asking, if you're reading this and your child has been diagnosed with MPPH or you suspect your child has MPPH, contact Dr. Mirzaa.  Get involved in the research.  It won't cost you anything.  They've even found the gene in some children who do not officially have megalencephaly.   If you're child has a larger head and PMG, contact the office, tell them a little about your child and see if your child 'fits'. 

The realistic part of me thinks that while all of this research is exciting, I feel like being involved will help others more than it will help us at this point in time.  It may help someone whose brand new baby has just been diagnosed with all of these huge words that the parents can't pronounce or remember how to spell.  Maybe they'll be told they have the same mutation as Luke and the doctors will be able to say that they have several children identified with this and tell these parents how the kids are doing and maybe, just maybe, they'll be a little less scared than we were (still are a lot...). 

So, if you are reading this or have read about Luke and you think that maybe your child's facial features look a little like this darling boy or your child has PMG and his/her head size is large or a touch too large and you're looking for answers...click here. It will take you straight to the megalencephaly lab where you can contact Dr. Mirzaa or her awesome assistant Carissa Adams. 

We're hoping for an uneventful holiday season.  Luke is doing so much better than last year at this time so I'm really hopeful.  Our family thanks you for following Luke's story and for all your prayers and love.   Wishing all of you a happy and healthy holiday with all of your loved ones. 

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:  http://depts.washington.edu/dlab/meg.php. 

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 running...it's the best!  There are some great shots of him on this video, though. 

 

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