Home!!

We are home!   The EEG was clean which is what usually happens.   It's a one hour glimpse of time and his seizures have never shown up on it.  He has been happy and active so we felt comfortable going home.  
He was really eager to leave.  In the morning he kept telling us he would wait and have his juice and crackers in the car.  Then when we were leaving he said,  "Hey mom,  when we get home let's shake our booties!"
The brothers were really excited to be reunited as were we.
We don't know for sure the exact reason Luke's seizure got so bad this time.   We're hoping the increase in medicine will put a stop to them for a long, long while.   Thanks for your love and support!

Home!!!!

EEG wires

Seizures Suck!!

While seizures do indeed suck, I'll once again express my gratitude and love for St.  Louis Children's Hospital and my new affection for West County EMS.  Long,  long story,  but Sunday night Luke ended up having a seizure that by the time it was all said and done lasted over 1.5 hours and took 4 doses of rescue drugs to stop.   Even then he turned around and shortly after started up again requiring two more rescue drugs and eventually a sedative to put him out.  Luke was breathing on his own but because his oxygen levels were dropping unless he had help and his blood carbon dioxide levels were increasing because he lacked the strength to expel his breath properly he ended up being intubated for a short time.  He was able to maintain his levels the next morning and have the tube removed.   To say it was a terrifying night for us is an understatement.   What I will say is we are incredibly grateful for the West County EMS department for bringing us to SLCH.  It is not the closest to our house so we were relieved that they were more than willing.   They also listened to us when we explained Luke's seizures because they are so difficult to identify and gave him more medicine on the way to the hospital.   The doctors, nurses and staff at SLCH continue to comfort us during extremely trying times.  
We're still at SLCH.  He's resting comfortably.   He seems tired and irritable but who can blame the poor kid!  
The last few weeks have been trying.  He had a short run of the stomach flu,  followed by seizures,  followed by (wait for this one!) shingles (argh!), followed by the seizures from hell.   After much testing they also discovered he has some random, uncommon cold virus... Not a terrible virus just another thing on top of it all!  Grrrr!  Our poor buddy!
We try to focus on our positives so we can keep our heads above water.  Our family and friends are amazing, as usual.  Ben is hoping that we DON'T get out today because grandma's is soooooo much better!  I've had lots of prayers and support from work and an amazing friend helping make sure my classroom is ready.   Dan's work continues to be understanding as neither of us feel comfortable leaving Luke for very long.  Lots of love and support has been pouring in from friends and family.  We truly don't need anything except for prayers and your kind words.   It helps a lot.  
Dan is amazing in these situations. I am both relieved and impressed with the way he can keep his cool and use great judgement when I feel like I'm a panicking mess!!!
At this point, Luke and Dan are taking a little well deserved mid morning snooze. We're waiting for the neuros to do their rounds so we know what the next step is. They are planning to do an eeg today and then we'll see.  We're not entirely comfortable with his level of stability-he's walking around like he's had one too many adult beverages!  But we also understand the last few days have kicked his butt!  He's tiring easily... Also understandable.   So we'll see.   This was a great deal scarier than last year (I didn't think it could get worse!!!) so we're in no real hurry to get out of here!
Thanks for all the love and support.  The kind words and prayers mean the world to us.

Snoozin' with Tucker and my daddy! 

Warm, cozy socks! Luke loves wearing warm socks! 

Finally eating to make mommy happy!

Juice, keys and the iPad....hmmmm maybe I'll stay a few more minutes!

Happy New Year!

Happy 2014!  I wish that all the things I post in my head could magically appear on our blog...My posts are coming so infrequently, I hope I have another one before 2015!  We have had a great fall and Christmas. 

Snuggles for Santa!

 

Luke's requests for Santa Claus were as simple as last year...keys, crunchy potato chips and cookies. Santa was kind and brought him all three. Although the keys Santa brought still weren't as good as mom and dad's keys...he cannot be fooled with fake keys - even if they appear real!  He gets slightly (ok, maybe a lot!) obsessed with things and right now car keys are a HUGE obsession.  But he only wants our keys.  We thought if Santa brought him real keys then we could stop worrying about whether or not he was losing our keys.  No such luck...his joy over his Santa keys lasted about two days!

Keys!

Physically he has had huge gains.  He is now able to jump off the furniture and land on his feet (check this out!).  Now, poor Ben would have been told NO in a hot second, but Lukie...well, it's good for him.  He calls it Canyon Ball since that is what Ben called jumping into the pool.  So we see him hop up onto the couch and yell 'Canyon Ball' as he dives off.  He's really jumping good distance, too.  So now both monkeys are regularly jumping off the couches. It's not creating good habits or polite children but it sure is creating one strong little boy and that is our goal.  He will also pretty much only get on the couch by climbing on the back.  He's turning into quite the little monkey! 

Ben and Luke have been having a great time together.  As they're playing, I often hear them get into arguments which is music to my ears.  It's so great to hear 'NO I DIDN'T!  YES YOU DID!'  being screamed from the top of their lungs.  Ben has gotten really good and realizing things that are going to upset Luke and he jumps right in to try to make him laugh or tickle him.  It's really sweet.  It usually erupts into a lot of underwear talk and booty shaking but that's ok.  While I feel bad that Ben is in the position - probably for quite a long time - to be on the lookout for Luke, I also realize that's just what big brother's do.

Luke has always had mild eating issues.  He had a hard time learning to drink thin liquids but has mastered that.  With his low muscle tone, he has a hard time realizing how much food he's putting in his mouth.  He always needed to be watched carefully when he ate and have his food cut into small pieces.  He has come sooooo far! Now he gets angry when we cut his food up.  He is successfully taking bites with very few reminders and rarely overstuffing...unless it's an Oreo.  Who can blame him then? 

Luke's starting to make gains conversationally, too.  He still has a hard time carrying on a two sided conversation, especially with peers.  But we're excited that he's starting to take part in conversation and making sense.  His language skills overall are amazing.  He's talking in long sentences and starting to sing a lot of songs.  His favorites are Drummer Boy and Happy Birthday currently.  He is starting to stutter a lot which I'm wondering if it's in connection with the return of the bad...seizures. 

As I said I've been posting a lot in my head with all of the stuff he's been doing that is amazing so I don't want to focus on this part.  The seizures did reappear over Christmas break (REALLY?!  Argh. Next year we're heading south.  I'm done with Christmas!)  They're a little different than they were before which is worrisome.  I'm kind of wondering if he's been having some that we didn't recognize for awhile because it's been within the last month that his stuttering has picked up A LOT,  he's been getting upset really easily, and we have noticed a little more clumsiness.  I received calls from both his daycare and classroom because he was acting abnormally recently.  So we're working on getting that back under control again...we had almost 8 sweet seizure free months...hopefully we'll be looking at more this time.  I hate them.  A lot.  But I am grateful that we usually can get them under control.  I'm always afraid that 'this time' we won't be able to but there's no point in focusing on that right now.

Happy, happy New Year to you all!  My only resolution is going to be to try to enjoy all the wonderful moments we're having right now and stop worrying so much about the future!  Hope you're enjoying your moments, too!

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!!