Thursday, March 28, 2013

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!! 

Sunday, March 17, 2013

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!! 

Friday, March 8, 2013


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!


Monday, March 4, 2013

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 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!