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! 

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! 

 





Game changer....

Our little Superman!

Flight to Seattle with toddler.....exhausting but uneventful

Hotel with spiders and an adult video store across the street.....scary but kind of funny

Visiting with old friends and family.....joyful

Finding out your 2 year old has a completely different diagnosis.....priceless

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Where to begin...?  OK so we are home from Seattle.  The visit that I anticipated being uneventful was anything but uneventful!!! 

We had our appointment with Dr. Dobyns at Seattle Children's Monday morning.  We arrived super early for our 8:00 appointment.  Seattle Children's is a well oiled machine!  My aunt and uncle came in from Vancouver, WA to be our taxi cab service and spend time with us.  The four of us plus Luke were ushered into the hospital, given ID badges and shown to the waiting area. 

We were called in right at 8.  As we were shown into the examining room, Luke, of course, started SCREAMING.  He really doesn't like doctor's offices!!  The sweet lady struggled through his weight and height and measuring his head.  Then we met Darci, one of Dr. Dobyn's research assistants.  She took some family history and then we waited for Dr. Dobyns. 

Luke & Dr. Dobyns!  Clearly Luke was excited to
meet him!! 

He came in and asked us to tell him basically our story.  So I start in....20 weeks, big head, blah, blah, blah, ultrasounds, MRI, blah, blah, bilateral frontoparietal polymicrogyria, bl...This is when he stops me.  Stops me COMPLETELY - even shuts me up for a minute.  He says, "Your son doesn't have bilateral frontoparietal polymicrogyria.  He has MPPH syndrome."  Me: (in my head because as I said he did silence me for a small amount of time) WHAT THE HELL?  I think he might have been talking still.  I wrote down MPPH and then managed to stop him.  And the whole meeting stops for a second as he realizes that we are COMPLETELY out of the loop right now....

Now, I'm going to do a little definition work here....
M - Megalencephaly - means really large brain.  The way this was explained to me awhile ago is that macrocephaly refers to head circumference and megalencephaly refers to brain size - specifically a really large brain.  To have megalencephaly your brain has to be over 2 standard deviations above normal.  Luke's brain is 6 standard deviations above normal....no big surprise there.

P - Polydactyly - Having an extra finger(s) or toe(s). 

P - Polymicrogyria.  Well, if you've been reading my blog at all you know what this is!

H - Hydrocephalus - fluid on the brain.  Luke never was officially diagnosed with hydrocephalus.  He does have mild ventriculomegaly which is some fluid build up. 

The megalencephaly, PMG, and ventriculomegaly put Luke in this syndrome.  He doesn't have the polydactyly part but he has the other markers which puts him here.

It's a relatively newly named syndrome.  At this point in time, Dr. Dobyns said they have approximately 100 people worldwide that have been identified with this syndrome but he believes that is an extremely low number.  There are between 20 and 30 people worldwide have been identified that are presenting like Luke. 

I'm going to explain the rest of the appointment and what it means for Luke the best I can.  Since we were NOT expecting this news - at all - I have a LOT of questions that I'm going to send on tomorrow to Dr. Dobyns.  Pretty much NONE of our questions applied after the whole game change....so if anyone who really knows anything about MPPH happens to be reading this please correct me if I'm wrong and please, please, please contact me!!  So the only thing I can guarantee is I'm going to tell you the information we received as we understand it.

Dr. Dobyns said that there is no way Luke could have BFPP because if he had BFPP he could not be functioning as he is.  He also said that while he does have damage in his frontal and parietal lobes, Luke's main areas of damage are actually his perisylvian areas of his brain.  He told us if Luke's brain was average sized to below average sized he would be severely affected.  Since his brain is so large he told us, "Take everything you've read about polymicrogyria and forget about it.  It doesn't apply to your son."  WHAT?  OK, you guys know I've spent a lot of time reading and trying to figure all this sh*t out!!  UGH.  (update July 2015 - because I've gotten a few questions about this recently - in following up with our doctors here and gaining more understanding over time, Luke does have BFPP but the way it typically manifests itself doesn't apply to Luke due to his gene mutation and the size of his brain.  I think that the PMG portion of his diagnosis doesn't affect him the same way because of his mosaic gene mutation.  So essentially he has PMG but the MPPH diagnosis trumps the PMG diagnosis.)

From what we understand everyone has these three genes that are responsible for growth.  What he thinks is that Luke's genes are in overdrive.  They don't know how to turn off.  He thinks they have a 75% chance of identifying the gene but it will probably be years before that happens (update July 2015 - not long after this post the mutated gene was identified as the PIK3R2 gene mutation - there are now at least 3 different gene mutations that I'm aware of that are associated with MPPH). 

With MPPH there are a few things we have to have checked out and start looking for.  Neither Dan or myself felt like Dr. Dobyn's was terribly concerned about any of this.  In the research his lab has been doing along with other doctors - again the sampling is approximately 100 people - they have found a few commonalities.  Because there are so few people currently identified they are looking at common problems and having the people in the study checked for these issues. 

1. Heart and kidney abnormalities - We have to have an ultrasound to check his heart and kidneys.  Quite honestly we can't really remember exactly what he was talking about.  We heard ultrasound, possible defects....So we'll get that checked out.

2. Cancer - because he has genes in overdrive this somehow increases his chances for cancer, specifically brain cancer.  At this point, they think that a child with MPPH has a 2-3% chance of developing brain cancer.  At this point, they have a 1 in 30 rate in their subjects - but again that's out of approximately 100 subjects and they think there are a LOT more out there.  So those numbers are probably skewed.  He thinks they are on the high side.  To stay on top of this, we continue to have yearly MRI's.  Done.  We're on it. 

3. Chiari Syndrome - I looked it up and tried to find a link that explained this the way Dr. Dobyn's explained it to us.  I couldn't find one.  Basically Luke's brain is growing at a rapid pace.  Everyones skull has a certain amount of room for your brain.  Everyone has a little extra space in the back.  What could happen is that Luke's brain could possibly outgrow his skull and start pushing into that extra space which would then create pressure on his spinal cord.  Again, yearly MRI's check for this. 

(Did I mention already that Dr. Dobyn's didn't seem overlly concerned about any of this?  It's all just things we need to check on as time goes on - the doctors still have a lot to figure out about this MPPH thing.  I'm just telling you guys what we learned - we're really not all that concerned about any of it.)

4. Seizures - Luke will always have a high risk of having seizures.  That hasn't changed.  What has changed is that out of their research they've found that MOST patients with MPPH have controlled epilepsy.  With typical PMG, you have a higher chance of intractable seizures, with MPPH there is a higher chance of having seizures controlled by medication.  He said that since he is at risk, he wouldn't recommend taking Luke off seizure medications for a long time even if he remains seizure free.  Again, DONE.  We'll keep him on his meds. 

While we were there, Dr. Dobyn's measured Dan's head, too.  Dan's head is less than a centimeter larger than Luke's currently is:(  Luke's head circumfrence is a little over 58 cm and Dan's is 59.  He expects Luke's head circumfrence to top out around 64/65 cm.  But Dan's head at 58 cm is really large.  He had Dan and Luke give a spit sample to try to figure out if Dan has a gene that has a mutation and if Luke has that same mutation.  He thought it would be years - if ever - before we found anything out about that. 

Ok, friends, nutshell....since we visited Dr. Dobyn's after Luke has already accomplished so much we didn't have as many questions about development.  He told us that Luke's life is an open book - which we already know.  He said it is unlikely that Luke will grow up 'normally'.  What is that anyway?  He said that he does know some people affected by MPPH who are in mainstream classes with learning disablities then there are also some who are profoundly affected.....does that sound a lot different than our original diagnosis?  Not so much.  He recommeneded we continue to push the speech therapy and continue with the other therapies we are involved in.  From what we understand from here on out, he will be following Luke's progress carefully (or his lab will!) to help gain more information about individuals affected by MPPH. 

We have a TON of questions already for Dr. Dobyns!  We took a list of questions with us that didn't end up pertaining to our meeting!  When we get more information, we'll keep you informed.  The new diagnosis doesn't necessarily change how we are handling Luke's treatment right now.  We have a few things to check as a precaution but his therapies continue to be on the right track. 

Oh and Seattle was fun!  Gorgeous city!  Luke decided to play out the real life movie - Sleepless in Seattle.  He took pretty much NO naps which was stressful to me but he weathered it well.  Hopefully we can get him back on track now!  We got to spend some time with an old friend of mine, Sara, who is doing her residency in Seattle.  She was a camper of mine when I was a camp counselor in college - now she's all grown up and living in Seattle with her fiance, Luke.  And as I mentioned, my aunt and uncle came down to be our personal taxi cab drivers and love on Luke.  Some pictures below!! 

That's it for now - that's a lot!  We have a lot of reading and learning to do...again....still!! 

Throwing rocks with Dad

Sara & me....so good to see her!

Pretty view from the ferry

Riding the ferry

My sweet family!

Speech, OT, PT, Oh My!

We had our First Steps reevaluation yesterday.  At a reevaluation meeting we look at where Luke is performing and decide what services need to continue, what services need to be added, what services need to be cut. 

As you all know - Luke is doing amazing.  I try to never forget that or let myself get bogged down in what he can't do.  But when I go into one of these meetings....that has to be my sole focus.  What isn't he doing that other two year olds are?  Where is he behind?  What should be be doing more independently?  The last several weeks, I have been focusing on watching the other kids in his daycare room when I pick him up.  I watch to see what words they are using, how easily they are moving around, what kind of interaction they have with each other.  I have researched developmental milestone lists and more about the brain and its areas of function. 

Looking at where he is and what he is NOT doing, I started stressing out about trying to maintain our PT services while increasing our Speech and OT services.  I wanted to increase Speech to twice a week and OT  to once a week.  I do not want to 'over-therapize' (I might've just made that word up...) Luke and burn him out but this time period in his life is critical for development.  The proof in that statement lies in how incredibly well he is doing after 2 years of early intervention services. 

Another worry I have, of course, is Ben.  As a teacher, part of the joy I have is getting to spend the summers with the boys.  If we were to get all of the therapy I wanted - then it would probably greatly decrease the amount of summer fun we were going to get to have. 

This quote has come to mean a lot to me.  Please don't think I feel like we are making huge sacrifices for Luke.  But in a way we are.  We are sacrificing our time with Ben.  We are sacrificing time with friends and with each other.  But if those sacrifices right now mean the very best quality of life for Luke - and our family - later, then they are indeed not sacrifices at all. 

Sooooo our First Steps coordinator is AMAZING.  She looks past the black and white of the paperwork and the guidelines she has and listens to his therapists and me talk about Luke, about his PMG and about his brain.  On paper, Luke is not terribly far behind.  But given the areas of damage in his brain his risk for becoming farther behind - particularly with his speech/language - is high.  She agreed - easily - to speech twice a week and OT once a week and maintaining our PT!!  So our lives have gotten crazier and better! We have one more year in First Steps and we are certainly making the best use of our time! 

I'm not sure what our schedule will look like this summer - Speech, OT, PT, Equine Therapy, ABM (Yikes!).  Of course, I'm worried about the amount of time that I'll have to occupy Ben while we have therapy as well as finding 'extra's' for Ben.  Luckily I have a lot of people who are more than willing to help so Ben may even end up with a better summer than I had planned for him!! 

Today we had Luke's neurologist appointment.   It was great.  Luke was not in a showing off mood because the appointment was not at a good time for him.  However, he did well and we come back in another 6 months.  I was under the impression that Dr. Smyser would be our neurologist until Luke was an adult.  I was wrong...eventually we 'graduate' from his program.   I DO NOT agree with this and am planning on figuring out a way for Dr. Smyser to keep his first 18 year old patient...Ideas on this???  Dr. Smyser just kind of laughs at me...he doesn't fully realize how very serious I am!!!!!!!

I've said it before but again, I am so thankful for the high level of support we have gotten and are getting for Luke.  In 'meeting' people around the country and the world, I have come to know that we have truly been blessed with the doctors, therapists and services we are getting to help Luke be the very best he can be. 

Happy 2nd Birthday, Luke!

Today Luke celebrated his second birthday!  I can't believe how fast time has gone.  Two years ago yesterday, I was crying on my way to the hospital.  We knew about his Polymicrogyria. But we had no idea what the road ahead was going to look like for our family and for our son(s).   I wasn't ever sad about him coming - I just didn't know how or if we were going to be able to protect him once he came.  But man is this child a fighter & hard worker! 

I think I've said before that this blog has become somewhat of a journal for me.  I like to go back and look at his progression - how big he's getting and how much he's learning.  So to mark this important milestone - here's what Luke is up to at two years old!!

*He is doing well with his gross motor skills.  He is learning to jump - he can jump with both feet when he's holding onto something.  Sometimes he can make a small jump by himself.  He is walking backwards and is sooo proud of himself!  We are working on running.  He is starting to walk up hills independently and is becoming more fearless as he goes down them (yikes!).  He is able to climb up into our play set and is going down the slide on his belly.  He loves it!!

*His speech is coming right along.  He seems to understand most of what we say.  He is still difficult to understand but it's becoming easier.  He has a lot of words that I understand.  He is still inconsistent with producing some of his 'known' words.  He'll have a word but then when you ask him to use it - he can't spit it out.  We are trying to get him to understand how to use two words together and to speak more clearly.  His speech therapist has worked wonders with him.  I think he is starting to show some frustration as he tries to communicate something to us but is unable to - but that's normal toddler behavior:)  Yay!

*His fine motor skills are improving.  He still has difficulty using the pincer grasp but is making progress.  We are continuing to work with him while he is eating.  Luke still tends to shove too much food in his mouth.  He understands the concept of picking up one piece of food at a time but he doesn't choose to do it most of the time.

We had a quiet birthday day for our big boy who tends to get a ton of attention.  Since we hadn't really planned anything for the big day (GASP), we forgot to get him a present!!  Yes, we are terrible parents!!  We went out for dinner tonight and then to Toys R Us.  Luke got to pick out his very own toy for the first time.  So we walked out with an Elmo doll & some Elmo books.  The kid loves Elmo (Ehhhmmmo!). 

He has a neurologist appointment coming up next week.  We are also meeting with our First Steps coordinator to determine his services for the next 6 months. 

Of course, his birthday celebration continues tomorrow.  I am a big believer in Birthday Weekends (weeks, months...milk it!).  Again nothing too exciting planned - except for time with our little family.  Wait - that's huge! 

Happy St. Patrick's Day to all of you and most importantly - Happy Luke's Day to everyone!!  Love to you all!

NO SURGERY!!!!

Luke's MRI was this morning.  Everything went well.  His ventricles have not enlarged very much since his last MRI so that is great news.  The fluid around his brain has also slightly decreased - which is great news. 

When we were on our way to the hospital this morning we were resigned to accept whatever happened.  I said that my first choice would be that they would say that his ventricles haven't really enlarged, we'll keep an eye on it..no worries.  And they essentially did. 

I also was worried that they'd find something new or different wrong.  I didn't want one more thing to worry about.  Dr. Limbrick (super awesome surgeon) took us to show us the MRI scans.  As he was showing us, I noticed that it said that he has damage to his perisylvian area.  Some types of PMG have that word in it.  I've read about kids with damage to that area and thought that we didn't have it.  Well, I thought wrong.  His is damaged and has been all along.  So there's not something 'new' wrong, just a little more damage than we knew about.  It is an area that has a lot to do with language development (from what I understand) and we already knew there was a problem in that area. 

When we first found out about Luke's diagnosis, I still had a small, secret hope that they'd do his MRI after he was born and come back to us apologizing profusely for messing up because they were wrong.  I was on the fence about starting this blog because I was hopeful that I'd have to quickly shut it down with a 'Whoops!  Sorry, the doctors were wrong...didn't mean to worry everybody!'  Then I'd think that, fine, if he had to have this stupid PMG then maybe the damage wouldn't be as extensive...maybe it was only on a small portion of his brain...not almost the whole thing.  But I guess it doesn't matter.  It seems like no two kids with a PMG diagnosis  - even if it's the same - are doing the same thing or progressing the same way.  So another little piece of puzzle isn't really life altering here.  I just hope it's the last piece of the puzzle and there are no more unknowns out there.  Maybe these are the stages of accepting a PMG diagnosis?? 

So our good stuff - it's what we like to focus on!!
1.  NO MORE SEIZURES!!  (Dan WILL be knocking on wood when he reads this.  Wouldn't hurt if you did, too, please!)
2.  In the last week or so, Luke has REALLY seemed back to his old 'self'.  Really back.  He's pretty much always happy (except around doctors...he doesn't like anybody in scrubs!).  He's eating great.  He's making lots of progress! 
3.  We have AWESOME doctors and care from Children's.  I've 'met' some people already through this blog and other support groups. I've learned that we are so, so lucky with the exemplary care Luke has received and will continue to receive.
4.  You guys.  As usual.  You're the good stuff.  Thanks for all you do to support us.  We have had a relatively easy ride so far - busy, but things could be much worse.  It's nice to have you all here for us for whatever life throws at us.
5. And of course...this has nothing to do with Luke...but the Cards in the World Series.  Obviously, that's the good stuff!  Now if only I could pretend like I was going to stay awake throughout the game tonight....Go Cards!!

Hanging in!!

Luke had a really good week!  No more seizures!  He seems to be adjusting to his medicine well.  WHEW!  Every day that passes without a seizure helps us to breathe a little easier.  We so appreciate all the sweet words and phone calls this week.  It helps us so much to know that people are thinking about him and pulling for all of us. 

We met with the neurosurgeon this week and I just wanted to give you a little update on that.  First of all, I didn't think there would be a need for an update.  I thought (as my sister in law says) we were just going in for a 'meet and greet.'  Not so much.  There is no huge alarm right now but it was disappointing.  I thought we knew all that was wrong with Luke's  brain.  And we might.  But we might not.  Basically in a nutshell (since I keep writing these short novels!!!) the surgeon is concerned enough about the enlarging ventricles to order another MRI sooner than later.  He thinks there might be another problem in Luke's brain where there may be a blockage not allowing the spinal fluid to pass through therefor causing the enlarging ventricles.  Both problems are correctable...surgically.  BUT no one is saying that we are anywhere near that now - or (HOPEFULLY) ever. I think that I have been telling myself that surgery wasn't really ever a possibility so it was a little bit of an eye opener to me.  Thankfully Dan went into the meeting more realistically so a level of calm was maintained!

The great news is that the day we have the MRI we will also meet with the surgeon and should have our answers.  He said at this point, best case scenario is we go in for the MRI and not much has changed and we come back for another in 6 months.  So that is what we are hoping for.  After having a little time to process, we're glad that he's getting this MRI sooner than later because then we know that he is being monitored closely and if the ventricles are enlarging enough to become a problem then it will be caught quickly.  The problem is that the signs that the enlarging ventricles are a problem are the SAME as the side effects of the medicine and the aftershocks of seizures!!  So it's really a blessing for our peace of mind to get this MRI quickly. 

The MRI is tentatively set for October 28th so again we wait...I should have called this blog 'Waiting'!!!  :)  Honestly, right now our biggest concern is making sure his seizures are under control and at this moment in time they seem to be. So we are very happy! 

This fall has been a little bit more difficult than we anticipated.  We are very lucky to have understanding employers, caring and concerned friends and a loving family to get us through.  We continue to celebrate the fact that Luke is doing far better than we ever expected.  We'll update more after the MRI!  Fingers crossed for another 6 month waiting game!!!!!!

I started this way earlier today.  Since then I found out a good friend's son had a major seizure today.  There are major and minor ones.  To every parent, seizures are major ones.  But I need to remind myself often and be thankful that we have only really had minor ones so far and hope that it continues that way.  To all the families out there who are experiencing any kind of seizure or worrying about the probability of a seizure...our hearts go out to you. Thinking of you J & hoping you are all resting well tonight...

So far, NO good....

One of the scariest things about this whole PMG diagnosis is the seizures.  We were hoping (duh!) that we'd escape that aspect of PMG.  No such luck.  Now, even with medicine, they are unfortunately increasing.  Luke had two seizures over the weekend.  I say that with sad confidence even though we didn't witness either one. 

When we first brought him home, I was terrified.  Babies are so jerky and weird!!  EVERYTHING looked like a seizure to me.  There were a few dark weeks when Luke was going through a particularly jerky period where I had my camera out every two seconds trying to capture his 'seizure' on video.  I've said this in a previous post - we were told that we'd just know.  And there is so much truth to that.

After his first seizure we purchased a video monitor for our peace of mind.  We love it.  It's been super helpful.  Sunday morning I glanced at it after hearing some noises and saw that he was sitting up.  I went in to get him up and noticed that it smelled in his room.  Upon turning on the lights I discovered that he had thrown up.  So this is where I have realized my life has totally changed.  My mind instantly went to, 'Did he have a seizure??'  After his first two seizures he threw up.  So of course that's where I go.  I tell myself to stop being psycho, crazy mom (I tell myself that a lot these days) and that he probably has a stomach ache.  Toddlers get the stomach flu and right now, in our house, WE GET EVERYTHING. 

Dan and I got him cleaned up and watched him carefully throughout the morning.  And the gut instinct kicked in - he was super sleepy, pretty irritable and slightly off balance.  He fell asleep in the car about an hour and a half before his nap and then napped again that afternoon.  Not good.  We decide to play it cool - he's on new meds, we have to give it time, could be a reaction to the medicine....

We know one of us has to sleep in his room.  We also wrote down what happened just in case it started to happen more frequently.  If it happened again we were going to call the neurologist to get his take on the situation.  We are trying to keep track of any unusual behaviors/sleep patterns just in case the medicine isn't agreeing with him.

And then comes Sunday night.  This time we are both awake and I'm not in his room yet.  Video monitor is sitting beside Dan and we see it all occur - well not the seizure because unless you're looking at his sweet little eyes, you can't really tell.  Luke got sick and we flew up to his room.  He wasn't even able to lift his face out of it - saddest and scariest thing I've ever seen.  After we cleaned him up I was holding him and he was really lethargic.  He would look at us after we called his name several times.  He could stand on his own but only for a few seconds before he'd start to fall.  Gut instinct kicks in.  Again.  And for us it confirms both seizures at once.

We called the neuro on call at Children's.  Can I just say how very much I love Children's?  The neuro on call (I can't remember his name - I was a little stressed) was awesome.  He listened to what happened and said this fancy word that I am too tired to look up right now about post seizure behavior - we're going to refer to them as aftershocks.  Eventually we got him back down and I spent the night in his room and Dan spent the night listening to and watching the monitor.  Luke slept well...

Today Dan stayed home with Luke.  It was really hard to leave him but I've missed a ridiculous amount of work this year already and I knew he was being well taken care of.  Luke was pretty sleepy and definitely not himself this morning.  Two naps (on a normal day he only naps once) into the day and he was pretty much his old self.  Whew.

We spoke to our neurologist's office and they are upping his meds.  They said it might take awhile to find the right dosage.  I asked the nurse what we could do to figure out if he was having a seizure at night since he doesn't tend to move around during a seizure or make noises. 

"You're just going to have to watch him carefully."  Hmmm....goodbye sleep. 

And that is what we're doing right now.  We are on high alert and I'm trying to make sure I look at him closely every time he moves. We gave him the new dosage tonight and of course we are hoping that it is the magic fix.  We will see.

We are trying to figure out the right balance of trying to take care of one kid while not forgetting to take care of the other.  Last night while we were trying to clean Luke up, Ben was yelling for us from his room.  We finally let Ben get up and be with us because we wanted to make sure Luke was fully alert before we would let him go back to sleep.  Ben was full of hugs and kisses for all three of us.  He knew things weren't right.  The other night Luke was crying really hard for some reason before bedtime.  I was with Luke and Dan was with Ben.  Ben told Dan, "Daddy my eyes are wet because Lukie is crying."  He is so sweet (and wild, but that has nothing to do with this) and I hope we figure out a way as all of this passes to make sure he's getting his due attention, too. 

And we continue to take it one day at a time.  I hope and pray that the seizures don't hurt his development.  I hate, hate, hate giving him this medicine but know that at this point it is necessary.  It would be a lot easier if he could tell us how it was making him feel.  He does seem to be tolerating it well and doesn't seem to be having any ill effects minus the whole thing where it's not stopping his seizures yet.  Grrr.

Thanks in advance for all your prayers and positive thoughts for Luke and our family.  It means a lot to us.  Fingers crossed for an uneventful night and for the meds to kick in strong!! 

Lots of love.

#2

Just over three months after his first one - Luke's had his second seizure.  It sounds like it was pretty much identical to the first one but perhaps a little bit longer than the first one.  It happened at our daycare, Lakeside, this morning.  The kind of seizure he has had so far doesn't look like anything I've ever seen before.  I searched You Tube before and after Luke was born to make sure I was familiar with different kinds of seizures and I didn't see any like his. 

Anyway they called us before 911 because they weren't 100% sure what was going on.  When I spoke to Karrie (one of the teachers at his daycare),  it sounded exactly like what happened before.  Karrie did say that when she remembered to start timing it, it did go 5 minutes without him really 'coming to'.  Dan and I met the ambulance at Missouri Baptist.  Karrie rode with Luke.

So here is where we are at.  He's totally fine.  He is now taking levetiracetam (generic form of Keppra) to control (*STOP*) his seizures.  The side effects that our neuro mentioned is sleepiness and the big one is a behavior change/agitation among other things.  But it seems to have the least amount of side effects from the ones we have looked at.  Hopefully this will do the trick.  However it made him shudder and he spit it out.  Uh-oh.  This is a mean mom comment - but it was pretty funny!  Today.  Tomorrow when I'm desperately trying to make him swallow it, it's probably not going to be so funny to see the 'shudder/spit'. 

He also now has an epilepsy diagnosis.  Dr. Smyser said that once a person has 2 unprovoked seizures they are considered to have epilepsy.  Really, that changes nothing.   With the Polymicrogyria, we knew that was pretty much a given.  We also have the emergency drug, diastat, that we can give him if he is having a seizure lasting longer than 5 minutes. 

He also has his second ear infection within the past month...WITH TUBES.  Grrrr....but that's a whole other issue. 

Shortly after getting to the ER, he fell asleep for awhile.  When he came to, he was signing that he wanted a drink and saying 'outside' over and over.  It made us feel better to see him perk up so quickly.  He's been fine the rest of the day.  His balance seems slightly off, like last time, but  by this evevning it seemed much better.  He is sleeping right now and I'm so glad we decided on getting the video monitor.  That makes it much easier to put him to bed on a day like today. 

I'm really hoping we have NO new news for awhile.  We meet with the neurosurgeon in October but I'm really thinking it's just a precaution so hopefully there won't be a lot to report. 

We're thankful that our little guy is home and sleeping in his bed!  Take care!