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! 

Lucky?

The boys and I are headed to Seattle today!  My friend, Jodi, and her family moved there right after Christmas.  We decided to go visit because, well of course, we miss them and also because we might as well pop in on Dr. Dobyns and another researcher, Dr. Mirzaa, who is another doctor who is researching megalencephaly and MPPH.  We don't really think we'll learn anything new but since the specific gene mutation Luke has is so rare we decided we might as well take advantage of a place to stay and a check in with some great doctors!  We're excited to spend time with friends and glad that our 'business' will only be one short day of our trip.

I'm flying with the boys by myself and Dan is coming out to meet us Friday.  Luke has come down with a nasty ear infection and cold and Ben woke up with a nasty cold this morning....thank goodness my sister in law gave me some drink tickets for Southwest!!! Thanks, Amy!!  It could be a long 4 hours!  It's just our luck that they've been completely healthy for a long time and then within 24 hours of a long flight....all *#@& breaks loose!! 

Speaking of Luke's ear infection, we just went back to the ENT about two weeks ago.  I wanted to have Luke's tube checked as well as an unusual bump on his ear.  Our ENT has never seen a growth like that before (of course!) so he's going to biopsy it.  Originally he was going to go ahead and remove Luke's remaining tube because he has had no problems with it in quite awhile but Luke had different ideas!  I sent pictures to Dr. Mirzaa and she said that some children with a similar overgrowth syndrome, M-CM or MCAP, have lipomas.  When I mentioned that to our ENT he was somewhat doubtful because Luke's lump is very hard and I think lipomas tend to be fatty...we'll find out soon.   That biopsy surgery is scheduled for July 25th. 

Weird ear thing...we'll see!!!

We also had Luke's 6 month MRI which  I am so happy to report was uneventful!  Nothing has really changed which is good.  We can now go to yearly MRI's which will be nice and less stressful for Luke (ok, for me, too!!!).

We were able to take part in an Epilepsy Walk benefiting the Epilepsy Foundation of Missouri and Kansas.  Although it was early it was a lot of fun! 

Remember last year when I told you about PMGAawareness.org?  The last weekend in June was the first PMGA Family Convention.  Two of the board members in Jacksonville who were the ones who originally started the website/organization pulled together a long weekend of speakers, therapists, education and fellowship.  Some friends of ours generously gave us some airline miles so I could go.  I was having a hard time deciding to spend the money on myself.  We decided not to go as a family since we already had our Seattle trip planned.  I am so glad I was able to go because it was simply amazing.  I was able to meet many families who I'd only known online.  I thought we'd spend a lot of time talking about PMG and therapy and doctors...and we did.  But we also spent time talking about life and ourselves and family...I am not a late night girl but we were up a LOT and I loved every minute of it.  I was able to meet a few moms that I have been talking to either on the phone or through Facebook or e-mail for awhile now.  I thought it might be awkward to meet in person but I can honestly say that it didn't feel strange at all.  I feel like I've known most of them my entire life.  While I wish we didn't have the common tie that we do....I'm so lucky to have all of these people in my life. 


Top left:  Michelle is from New Jersey.  Her daughter, Quinn, has PMG.  Michelle is also on the board with me. We've been talking on the phone for almost two years.  It was so great to meet her in person.   Andrea lives in St. Louis.  Her daughter, Willow, also has MPPH (what are the chances of being in the same town 5 minutes away from each other???).  The three of us are the only ones who came kid-free. 
Top right:  Late night chatting in the lobby with some other moms. 
Bottom left:  Some of the members of the Board who were able to attend.
Right center:  This is Kristin and Cora.  Kristin and I have been chatting via e-mail for awhile now.  We connected through a YouTube video of Luke that was done by the Fetal Care Center shortly after Luke's birth. 

I wish I could put up ALL of the pictures I have.  I have some beautiful pictures of some beautiful kids...not sure if I can post those, so I won't.  I am really thankful to have taken part in this experience. 

OK, wish this momma luck on a plane with two under the weather boys!  Hope you're all enjoying your summer!

Time is flying...



Recently I had a dream about Luke. A few years ago - that sentence would have a totally different meaning than what I'm about to tell you. A few years ago, we were hoping, praying, dreaming about the things he might do. Now I'm dreaming about the things he IS doing.  My dream wasn't some big, deep 'meaning' kind of dream.  It was just a dream where he and Ben were running and playing together.  Luke was talking and singing.  It was perfect.  It was reality.

 

Two weeks ago we went on a trip with Dan's family. We stayed in these little cabins by a lake. Our cabin is right by the boat ramp. It was a dangerous spot for us. And the best part is - it was dangerous not because of Luke's 'disability' but because of his *ability*! He was trying to run across this steep ramp and standing at the top with his arms behind him like Superman saying, "WATCH ME!" to anyone who would listen. Then upon seeing what he was about to do, it was a mad dash from the nearest person to STOP the wild child from attempting to run down the ramp. It was the best scared feeling I've ever had in my life. He was also working his upper body strength by hanging from the hand rails.  I didn't even know he had enough upper body strength to hold himself off of the ground!!  

Woah!  Look at those arms!!

Luke is just flying along!  He's making such amazing progress.  He finished his first school experience with Parkway two weeks ago.  He did a great job and has really started coming out of his shell.  He's talking so much more and making wonderful progress with conversational skills and asking questions.  Looking at him it is unbelievable how much he's grown in so many ways the last few months.  He tends to repeat phrases and is currently stuck on:  I love you, too, ___________, Can I give you a great big kiss/hug? and trying in any way to use the word booty (thanks Ben). 

He's also beginning to take bites of food. He is able to bite his food and chew but since he has decreased muscle tone in his mouth/jaw area, taking bites out of food is difficult for him.  We still cut up all of his food into bite sized pieces.  But lately he has been taking bites of things like quesidillas and peanut butter sandwiches successfully.  He still tends to try to stuff the whole thing in his mouth but with verbal reminders he is able to take bites.  This may not seem like a big deal but it is HUGE. 

This summer, Luke is taking a semi-break.  He is not going to go to summer school.  We are increasing PT & speech to once a week and continuing with Equine Assisted Therapy.  Other than that...we're hanging out!  In the fall, he'll be in a class at the same school as Ben with 6 typically developing children and 6 children with IEPs.  I had the opportunity to meet the teacher's aides in the classroom and it seems like it will be a good fit for him. 

We had to restart our seizure-free countdown again and are back at four weeks seizure free yesterday.  He has started a new medicine called Lamictal.  We're increasing his dosage very slowly because of some of the possible side effects.  He should be at full dosage in about 6 weeks.  At that point we'll see how he's doing.  I believe if he continues to do well with it and he remains seizure free then we'll start talking about reducing his other medicine, Keppra.  He's reacting very well to the new med and I'm hopeful that this will do the trick for a good, long while. 

We're also walking in an epilepsy walk in June benefiting the Epilepsy Foundation of Missouri and Kansas.  If anyone is around and would like to join, here is the website:  http://www.firstgiving.com/efmk/SeizeTheDaySTL.  It starts at (eek!) 7:30 a.m. But walking for Lukie is worth getting up at the crack of dawn for, right?  While we are, of course, walking for Luke, I'm constantly reminded as I see other families truly struggling with seizure control how 'lucky' we are that Luke's seizures are largely controlled.  Although we're trying to find our magic medicine mix right

now, I feel good about getting there and being seizure free for a good, long time again.  So while we're walking for our guy, we have a lot of other kiddos/families that will be in our hearts, too. 

We had friends come to visit.  Abby taught Luke how
to spell her whole family's names.  He is starting to spell a lot
of words and even starting to recognize some words!!!  I think
he also had (has) a HUGE crush on Abby...

He continues to be totally enamored by his big brother.  Ben teaches him things day in and day out without even trying....such as after you let out a huge belch, you yell 'Uh-Oh McBurpsio's' while you're laughing hysterically *sigh*.  I'll take it....!!!  Luke will try anything Ben does (except eating vegetables!) and I truly believe Ben's influence really pushes Luke to try harder. 

I hope everyone is enjoying their summer!  Thanks for checking up on Luke! 

Three sweet superheroes - Avery, Ben & Luke!!! 





 

School boy!

School is going great!  He transitioned like the rock star he is.  Luke went right on in and started wowing his new teacher.  Making school happen has been challenging and we really appreciate the help that Dan's parents have been able to provide.  We are still waiting on bus service. 

I haven't met his OT or PT which is very strange for me.  I know what they're going to be working on but I'm used to being very involved in his therapy.  I spoke to his PT today and it sounds like the way it is going to work out, he'll have all of his therapies on Tuesday's and Thursday's.  At this point in the school year, the therapists schedules are very full.  It sounds like two OT's will be splitting his time for the remainder of the year.  Because we know this will be an adjustment for him, we're going to continue with speech therapy and physical therapy every other week.   Our First Steps speech therapist is going to continue to see Luke.  However, we are having a hard time finding a PT who can accommodate our schedule. 

Luke had his six month neurologist check up today.  It was well timed since he had a couple of random seizures yesterday.  He hadn't had any since early January and I was hoping it was all behind us for a good, long time.  We are going to increase his medication again and if that doesn't work, we start talking about different medications to add.  *sigh*  The neurologist isn't terribly concerned because his seizures aren't hindering his development so there's time to figure it out. I understand that Luke has a mild case of epilepsy and I am thrilled that his seizures so far are few and far between (at least they had been and I hope we're heading that way again!!)....but I'd be at my happiest if there were no stinkin' seizures at all for my sweet boy - or anyone at all.  March 26th was Epilepsy Awareness Day and I saw a post on Facebook (from EpilepsyAustralia) where someone wrote something about how you learn just how long 30 seconds is when someone you love is having a seizure.  So true. 

Other than that, Dr. Smyser was very impressed with Luke.  Luke sang Happy Birthday to himself and talked a little with Dr. Smyser.  Usually he refuses to speak to him. We go back in six months.  We have his six month MRI in June.  His head did NOT grow between our last visit and this visit which is a first!  That is great news!!

Equine therapy continues to be a highlight in Luke's week.  Last week Ben got to ride, too!  He loved, loved, loved it!! 

 

Happy Easter to you all!! 

Happy 3rd Birthday, Luke!!!

Wishing my sweet THREE year old the happiest of birthdays!!  When he's asked whose birthday it is, he raises his hand and says, "Me, me, me!"  So cute!!  Hope you all enjoy a sweet St. Patrick's day!! 

Whew!!

The IEP is over...sort of.  The team at Parkway spent two hours with us.  At the end, Luke qualified for 60 minutes each of physical therapy, occupational therapy and language therapy weekly.  We also decided to go with a special education classroom where there will be approximately 6 typically developing children and approximately 6 children with IEP's.  There will be a lot of support in his classroom to support his needs. 

We are really excited about this although we are, of course, beginning to mourn for our current service providers.  Next week will be our last official week with them unless we can figure out time in our schedules to continue services with them.  We're hoping to maintain services with them until at least August.  The problem will be that since they won't be coming to our house anymore it will make things a bit trickier.  But we'll figure all of that out. 

Luke will start in his new classroom after spring break on March 25.  The only part  still to figure out is where he is going to be.  We will hopefully find out early next week.  The Early Childhood Center is our first choice.  Dan's parents, who live in our district, have generously offered to let us use their house as drop off and pick up.  After he is dropped off from school, they can take him to daycare.  Our daycare is out of district so Parkway won't come to pick him up there.  In August, we'll switch both boys to an in-district daycare.  We don't want to pull Ben from his current setting right now.  Our home school also has this classroom setting and if he is placed there our daycare can transport him and not much will change.  We'll see....

Luke's really been talking a lot lately!  I wanted to share a couple of videos.  Luke has a new song that they do in his classroom at school called the Copy Cat Rap.  It's really cute.  When he does it with the other kids, he does more of it.  The second video is a video of him saying his prayers.  Amen!

 

Even more mysteries...

When we went to see Dr. Dobyns in June, Luke was tested for a mutation in his PIK3R2 gene.  This is one of the genes associated with MPPH syndrome.  We were told that the test was going to be fast tracked and we'd have the results in two weeks.  Then we were told six weeks.  Well we received the results this past week.  Oops. 

There was a reason for the delayed results, though.  There is one lab that Dr. Dobyns' office uses to test for this mutation.  (I am going to try to tell this without telling the WHOLE story....)  They were using one sample from each patient to test for the mutation.  In Luke's case, they tested his saliva.  The doctors who are studying MPPH syndrome believed it to be 'germline' meaning it was a mutation that would be in all of Luke's cells if he had it.  Through a series of events involving another friend whose son is also diagnosed with MPPH it has blown up into a major medical discovery.  The doctors have discovered that there are some kids with MPPH who have what is called a mosaicism.  This means that while Luke does indeed have the mutation, it's not present in all the cells in his body....just some.  At this point of testing, 40% of his saliva is affected and 9% of his blood is affected. 

The doctors are in the process of retesting all of the people  they previously had identified with MPPH using more than one sample.  They already had Luke's blood for research purposes which is why we know that Luke has the mosaicism.  At this moment in time out of all the samples they have retested, Luke and two other children have this mosaicism.  So that means that Luke is one of three people - IN THE WORLD - identified with this particular kind of MPPH.  AND we know one of the other children!  There's a sweet guy in DC who is just a little younger than Luke and a child (16 or 17 years old) in Japan.  Unfortunately they don't have a lot of information about the Japanese child.  I

We are sending in a skin sample, more saliva and possibly hair samples for Luke.  The researchers are going to retest everyone they've already tested with as many point of data as they can.  What they will do is take the percentages from his samples (skin, blood, saliva, maybe hair) and then tell us approximately what percentage of his cells are affected. 

This is all very fascinating to me.  I'm interested in finding out if they identify more children with the MPPH mosaicism and also if they'll find some older children.  I also think that Luke could be one that kind of paves the road for others....as we contribute to research and keep the doctors updated on his progress he will be one that doctors will be able to use as an example for new parents in what MPPH might look like for their child. 

Incidentally, this past week was Rare Disease Day...while Luke doesn't have a disease his MPPH and Polylmicrogyria are considered quite rare. 

 

Luke's IEP is scheduled for this Thursday.  I am just about as nervous as the day we had him!!  I'm eager for it to be over so we know what the next step is.  AND it's 13 days until this big guy turns THREE!  He can also tell you his birth day and that he's going to be turning three!!  He's pretty excited!