Thursday, December 27, 2012

A few things that I have been reflecting on the last few days...

1. Christmas happens when you're together with the people you love.
2. Four year olds are incredibly flexible.
3. The staff at St. Louis Children's Hospital is AMAZING.
4. Life is precious.  We shouldn't need reminders about that...

To say that we've had an eventful few days is such a drastic understatement.  It makes me tired to even think about writing all of it so I'll try to give you the condensed version. 

As I recently wrote, we increased Luke's seizure medicine almost two weeks ago.  Well, unfortunately, that didn't do the trick.  Sunday, Luke woke up and began to have seizures pretty quickly.  It started slowly and then turned into something ugly. We ended up in the Children's ER.  They used two doses of ativan to stop his seizures.  We were at Children's until Tuesday for observation and testing.

He was scheduled for an MRI next week but they went ahead and moved it up.  That was done Monday.  Luke was NOT happy to be in the hospital so he screamed all the way from the PICU to the Imaging Center.  While we were waiting to go in, he stopped screaming for a second and said, "I am a wock (rock) star."  It was so sweet and so sad at the same time.  The neurosurgeon also decided to do a lumbar puncture (aka spinal tap).  He wanted to make sure Luke's spinal fluid wasn't too high which could be causing some of the nausea.  The official MRI report isn't in but from initial reports it doesn't look like there was a huge change.  His spinal fluid was on the high end of normal.  So that all tells us pretty much....nothing. 

We were released Tuesday afternoon with another increase in medicine. His meds have been doubled in the past two weeks.  There's no real answer/reason to why his seizures have increased.  We've always known he is prone to seizures due to his diagnosis. We did find out that his seizures are called complex partial seizures.  We never had a name for them before.  We meet again with the neurosurgeon next week. 

We discussed doing a 24 hour EEG with one of the neurologists.  Since Luke's seizures - at this point - seem to be so sporadic we decided to see if the medicine increase seems to be working before going on to an EEG again.  Luke had already been through a lot and it seemed pointless to put him through that when we already knew he was having seizures. Once they were able to stop his seizures in the hospital, we felt like he wasn't having anymore.  So if we would have had the EEG, it likely - again - would have shown nothing. 

Obviously we were devastated by Luke's seizures continuing and particularly becoming so bad.  Selfishly, I was also sad to be in the hospital on Christmas Eve and Christmas.  Children's was amazing though.  Every person I spoke to was so sweet.  No one at all showed any remorse at having to work and be away from their families to help our family and the other families on those days. 

Of course I was sad to be away from Ben.  Ben was awesome!  He got to stay with Grandma & Pawpaw, play with his cousins, and watch Polar Express in Aunt Amy's car while going to look for reindeer!  While we were going through the whole ordeal on Sunday, Ben drew a picture for Luke and found the tape and hung it up in Luke's room.  Every time I talked to Ben he almost immediately asked to talk to Luke.  Then on Christmas Day when I told Ben that Santa told us he was coming the next day he said.....OK.  That's it. Just 'ok'.  It was such a big deal in my head but for him...he just rolled with it.  We had Christmas with my family that afternoon and Dan's family rescheduled for the weekend.  We were all together and that's all that matters. 

On Christmas morning, I received a phone call from one of my best friend's husbands.  We were pacing Children's, waiting for doctors to release us so we could go home to be together on Christmas Day.  He told me that my friend had a brain aneurysm on Christmas Eve.  She was waiting to go into surgery to try to repair the damage.  At this point she is doing really well.  She has made really great progress so far and I'm hoping and praying for a speedy recovery.  Please keep her and her family in your prayers.  She has two young children who are going to have a lot to try to understand. 

I was also reminded of a sweet momma whose little guy can't be with her in body anymore....a momma who had to say good-bye far too soon to her sweet guy.  She took time to send mighty love to Lukie.   

With everything we went through with Luke the last few days, I was reminded that the most important thing to remember is that we are all together.  Period.  We are so blessed. 

I think Luke is just about back to 100%.  He's been really spunky today and seeming back to normal.  We're still really scared at night and constantly on the look out for seizure-like activity.  But every day will get easier....together. 
Look how long those legs are!!!  Hanging out in the PICU. 

Thank goodness for iPads!!  Watching Mickey with Puppy Dog, Daddy and his NEW puppy dog that one of the nurse's got him before we even left the ER. 

Snoozing with Daddy after we were moved out of the PICU.

Visiting with Pepper the therapy dog on Christmas morning.

Thursday, December 20, 2012


Sorry it took me so long to post this!!!  Luke's hour long EEG came back 'clean'.  This means that during the hour he was hooked up to the wires, he didn't have any seizure activity which is what we expected.  What does that mean?  Originally, I was determined to push for a 24 hour EEG so we could see what was happening when he was in a deep sleep at night.  However, after talking to the neuro's office and going through the 'super-fun' EEG experience I'm comfortable waiting for now.  He's doing really, really well again (WHEW!). 
I think that this whole experience was a big wake up call to make sure we are extra special careful when he is sick.  It is normal for children with epilepsy to have increased seizure activity when they are sick.  His medicine was increased and even with the increase - from what I understand - he's still on the low end of dosage quantity. 
He also has his 3 month kidney ultrasound and 6 month MRI coming up within the next few weeks.  I haven't seen anything at night recently that really worries me so I feel like he's got enough to go through in the next few weeks. 
Thanks for the prayers and the words of encouragement!  Wishing you all a happy holiday!
Fun Santa sensory fun with whipped cream!

Fake bearded Santa.  Enough said.

Tuesday, December 11, 2012

Ups and downs...

I've been meaning to update for awhile!  It somehow always gets away with me.  So I'll start with what I've been wanting to update with first....the ups! 

Luke finished his first year of Equine Therapy in November.  As you all know, we certainly had ups and downs with that.  We ended, though, on a big up!  The last few sessions he was eager to get out of the car and would ask about riding Dusty.  He also, we discovered, LOVED trotting on the horse.  I was really nervous the first time they did it because I was sure he would throw a fit.  When Dusty stopped, he had a HUGE smile on his face and was bouncing up and down saying 'Faster, faster!'  He also had a super special volunteer, Jody, who made him an adorable hat for his last session.  It has stars on the top and she named it his 'Twinkle, Twinkle' hat.  He picks it up and wears it around the house!  It's adorable!!  We are signed up for all five sessions in 2013 starting in February!!!  Yay!!! 
Faster, Dusty, faster!!!
Luke and Jody with his sweet Twinkle, Twinkle hat.

We had our first meeting to begin the transition to the school district.  I remember the first meeting I ever had with our First Steps coordinator.  At every meeting she has to tell us that when he turns two and a half we have to begin the transition to the public school district.  It seemed sooooo far away and now it's here.  It's so odd to be on the 'other side of the table'.  As a teacher, I've sat in on many, many IEP's.  It's really strange to be the one that they are focused on.  The meeting went great.  At this point, we're hoping to get through on this loophole that will allow us to keep our First Steps therapists until August.  We'd still have to follow the school district schedule and the therapy that the school district deems appropriate.  BUT we'd keep our therapists which would be awesome.  Luke has made such incredible progress the last two and half years.  I don't want anything to interfere with that.  We have his diagnostic testing in February which will determine the services he will receive  as well as his placement. 

His speech is continuing to grow appropriately.  He's just starting to ask questions which is really exciting.  He can ask 'can' questions (Can I have one?, Can I watch Mickey?, etc.).  Once he realized he pretty much gets anything he wants when he asks correctly he's been using it pretty consistently!! 

OT and PT continue to do really well, too.  He is still working really hard on being able to run but he's making awesome progress. 

We had to keep him up late
and get him up early for the
EEG so he would sleep.
Almost three weeks ago, Luke woke up throwing up.  I think it all started as sinus drainage.  He has been taking Zyrtec for months and months...but still has allergy problems.  Anyway...he'd throw up one day, then not the next, then for a few days, and then not again, etc.  He also was having really messy diapers (to put it delicately!) off and on.   He would seem better for a day or two then get worse again.  Also, he was only throwing up when he was in bed, usually between 5:20-5:25 in the morning.  While he was up and moving during the day he was fine.  He was happy and active.  He would only start to seem like he was having problems when he'd go a few days without eating and drinking.  We went to the pediatrician and also the ER.  After the ER, which gave him anti-nausea meds and probiotics he seemed to get better for a day or two.  Then it all started up again...I never felt like it was anything viral because NONE of us got it.  Usually when one kid 'falls' the other isn't far behind.  Ben has not been sick at all.  Since he wasn't getting better, I decided to call the neurologist's office.Upon talking to our neurologists office, it was decided that the vomiting and messy diapers were likely unrelated.  The neurologists office was thinking that the vomiting only in bed sounded a lot like he was having seizures again.  

Sleeping with Puppy Dog during EEG.
I think we'd gotten really comfortable being a year out of having any seizures and since he was having random yucky diapers we were hoping we weren't there again.   Well that night we watched even more closely and sure enough, he had two seizures that night.  Needless to say, we were (are) completely caught off guard and so sad.  He hasn't had his medication increased in over a year.  Also, I was reading that when someone who has epilepsy has prolonged diarrhea, it can change the way the anti-convulsant is absorbed in the system.  SO...we had an EEG today.  I don't know if it will show anything.  We should find out later today or tomorrow.  I think the the plan is to go ahead and increase his medication. 

The part that scares me the most is that the kind of seizures he has are really hard to detect.  Unless he vomits afterward, when he's sleeping, we really don't know.  That's pretty terrifying to us.  I guess the good news is they are not seeming to affect him like the ones he had last year.  But I still want to know for sure and get them taken care of so we can all rest more easily. 

By the way....that was the 'downs' in case you didn't know:)  But that's the only 'down' we have had in awhile so that is also an 'up'...right??? 

Oh!  And another BIG least in my opinion...Luke and Ben are really starting to play together.  He used to try to whack Ben anytime Ben came near him, but now he and Ben are starting to play together and Luke is laughing hysterically at Ben.  Together, they totally rule the household, and I must say I'm OK with it most of the time!!!

He's really doing awesome overall.  I'm hoping that the medication increase and trying to stay healthy will keep the seizures at bay for a long, long while again. 

In case time slips away from me again, I want to wish you all a happy, healthy, loving holiday season.  Luke is really excited about Santa.  He wants presents, surprises, almonds and trucks.  I'm not sure he totally understands it but he seems pretty excited!  Due to all the sickness, we haven't made it to see Santa yet.  If we get there, I'll be sure to post pics!! 

Much love to everyone....

Wednesday, October 10, 2012

Introducing......Dr. Silva

Hello there!  The last time I posted, we had an unusually long doctor day.  During that day, Luke had an Echo and EKG done due to recommendations from Dr. Dobyn's because of the MPPH diagnosis.  I didn't hear anything from our genetics office (who is taking the lead on taking care of all of the stuff associated with MPPH) so I assumed all was fine.  Well, you know what happens when you assume...

It is fine.  BUT I received a call from the genetics office last Friday at the END of the day to set up our visit with the cardiologist.  Hmmmm?  Of course, the lady who called me to set up the appointment was surprised I didn't know why she was calling.  AAANNNDDD she couldn't tell me WHY we needed to see a cardiologist and what was wrong with the tests we took.  All she could tell me was, "Anytime there is an irregular test result, we want you to follow up with the cardiologist."  Not. Helpful.  So after calling the cardiology department at Children's - who wouldn't answer my questions because our geneticist ordered the test - and waiting in vain for the office to call back, we waited out the weekend.

Monday we found out that Luke's left ventricle in his heart is slightly enlarged.  His heart is pumping blood normally and functioning normally.  It probably means nothing but due to the irregularity, we need to follow up with cardio.

So we did today...Everything went well.  Our newest member to Team Luke is Dr. Jennifer Silva.  She is not concerned about his ventricle.  She wants to do another echo in six months to see if it's changed at all.  If it hasn't changed, from what I understand, we can probably rest easy.  If it has...we deal with it then.  She also did another EKG which was normal.  The last part that we had to do was a Holter 24 hour monitor test.  He is hooked up right now to a special heart monitor which will give the doctor a more accurate read of his heart rate.  Sometimes with MPPH patients, heart rhythm can be a problem.  Luke does not care for it at all:(  But we'll get through...we had to stick it on with band aids in a few spots because he was sweating if off.  Ugh.  Keep your fingers crossed that he keeps it on tomorrow morning!  We FedEx the whole thing back tomorrow and will have the results in approximately 10 days.  If it's fine, we wait and repeat the whole process in 6 months and then, I believe, yearly after that.  If there's a problem....I guess we'll find out the next step in 10 days...

I'm glad that it was another uneventful visit.  I wish he didn't have to go to allllll of these doctors visits but I'm glad all the visits have been resulting in not too much to worry about.  I was under the impression that once we had his heart tests done we would be done with that part.  Having a cardiologist added to the team is not something I expected to happen but the most important thing is to make sure we avoid any problems if possible.  So...I'll keep you updated!

I took some pictures during PT and Speech this week!  Hope everyone's enjoying fall so far!!
Working on standing on one leg.

Working on running by chasing Miss Amy!

Working on jumping

Helping Luke get into standing from tall knees

Pumpkin carving during speech - ALL of our therapists include the other therapies during their time.  Luke has some issues with touching different textures.  So while Christine was working on language and speech development, she also worked with Luke on touching strange textures like the pumpkin guts!

It went well...

....for a minute. 


Ben was concentrating really hard on making hair for the pumpkin.

Ms. Christine and her boys!

The final product!  While putting the pumpkin together we worked on OT and speech activities like color words and words to describe the pipe cleaners and different parts of the pumpkin and face!  I LOVE our therapists!!!

Thursday, September 13, 2012


So in the last three months since I posted (whoops!) lots of wonderful things have been going on.  First, we finally - as of today - have finished all of the initial testing that Dr. Dobyn's recommended when we went to Seattle. 

A few weeks ago, we had Luke's MRI.  It showed little to no change which is fantastic.  His ventricles have not increased and his brain is not growing at a pace to turn into Chiari at this point in time.  Yay! 

Today we had a marathon of appointments...kidney ultrasound, neurologist, geneticist, echo cardiogram, EKG....And it was all good.  Great even.  We found out that, as a precautionary measure, Luke will have to have kidney ultrasounds every three months until he is eight years old to check for tumors.  He doesn't have any at this point in time.  Our neurologist was really impressed with Luke's progress.  He recommends to keep doing what we are doing!  He'll have another MRI around three and then yearly after that as needed.  His brain growth has (finally!) slowed significantly.  We will go back to see neuro and geneticist in six months.  We didn't get the 'official' results from the echo/EKG, but the tech who did the procedure told me not to worry.  And it was really I'm just thinking those are good signs.  Right?? 

We always see a physical therapist from Children's Cerebral Palsy clinic when we see Dr. Smyser (neuro).  Ashley was checking out his walking and stance and we were discussing his orthotics (which he grew out of in record time this time!  He went up by TWO shoes sizes!!).  I asked if he would eventually outgrow the need for them.  I thought he could build up the strength not to need them.  But she doesn't think so.  She thinks he will always need them due to his low tone.  He tends to stand with both knees buckled when he is at rest which uses little to no muscle power.  As he gets older, we'll have to make sure he's doing exercises to strengthen his legs and make his stance better. 

Luke was such a trooper today.  I was really anxious about today because we started at 7 and didn't get done until almost 3.  He was awesome!  We took a walk to a local cupcake shop and bought a little sugar to keep him awake through the day and to share with some friends who also had a long day at the hospital.  We sang a lot of songs. 

Our summer was great!  We had the opportunity to go to Branson with some old friends and went to Silver Dollar City.  I thought that Luke would HATE it.  He absolutely LOVED it.  With the help of his orthotics, he was just tall enough to ride the kiddie rides.  Every time we pulled him off of a ride, he would throw out his bottom lip and just let us have it!  He still talks about the teacups and the elephants (Dumbo ride). 

Ben and Luke together are fantastic!  Luke has really started to stand up to Ben.  Pretty much every time Ben comes near Luke, Luke smacks him.  I have to be honest - I love it.  I love hearing them bicker and fight.  It sounds just great!! 

Luke's language continues to blow me away.  He's talking so much more!  He's able to sing entire nursery rhymes - BINGO, ABC's, Jack and Jill, Skidamarinkadink - to name a few.  He's asking for things and using longer sentences.  The other day he told me, "I want to go bye-bye in the car" and proceeded to go get my purse and head out the mudroom door!  He's replaced 'HI-YAH' with 'Oh Man!'  Although he still pulls hi-yah out sometimes.  My favorite thing is when Ben is bugging him and Luke starts yelling at him which leads to Ben running in to tell me, 'Mom, Luke's hi-yahing me again!'  It's officially become a verb in our house...

This fall we'll begin the process to do his official IEP for the school district.  He'll have to undergo testing by Special School District to determine what he qualifies for.  I will be absolutely heartbroken when we have to transition away from First Steps.  Our coordinator and therapists are so amazing and have worked wonders with Luke. 

When Luke was given the new diagnosis by Dr. Dobyn's, I asked his office to put me in contact with other families who are dealing with MPPH.  They told me they would send out my contact information and then the families could contact me.  Well, that hasn't happened.  However, shortly after Luke's diagnosis my very first PMG friend who I met through this blog, Susan, received an e-mail diagnosing her son with MPPH.  Then another family (Andrea and Kyle) who is in St. Louis that I met through a support group received an email with the same information!  Their daughter was diagnosed with MPPH.  Luke and I were lucky enough to spend some time with them at the hospital today while their daughter was going through some of the same testing as Luke.  Then just this week another woman I 'met' through a Facebook group got a phone call with the diagnosis for her son.  So my MPPH world is slowly growing...Anyone else out there???? 

I'm ready for a good nights sleep now that all of this testing is finally behind us...for now!!  Good night!!

Wednesday, June 13, 2012

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

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 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 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 & good to see her!

Pretty view from the ferry

Riding the ferry

My sweet family!

Wednesday, June 6, 2012

Updates Galore!

Hello!!  Our little cowboy was on break this week but we ended our first session of Equine Therapy on a great note!  Luke even got to go on a trail ride with his horse, Sparky!  We never really achieved riding independence (riding without mom...) but hey, he's TWO!  It's OK to still want your mom with you while you're riding a great, big horse!!! 

I'll try to keep this update concise but I have lots....I'll start with GPR56.  This was a genetic test that we have wanted to do since Luke was born.  We've been trying to figure out for the last two years if insurance was going to cover it.  Thanks to the persistence of a sweet lady from our genetics office we finally had it done.  From what I understand a mutation in this gene is a known cause of Luke's particular type of PMG.  Also if he was found to have this gene mutated, then it would have shown that Dan and I were random carriers.  Well, his is fine.  So of course, I think that means that we are not carriers. Not necessarily.  We're pretty much exactly where we were from the very beginning.  Apparently as Linda from the genetics office explained, we all have a whole bunch of meaningful genes and since no one really knows what caused his PMG we still could be random carriers.  Or not.  She thinks there is going to be a more generalized test available within the next year or so that could give us a more concrete answer. 

Now you might wonder why it's so important to me that we find out.  Would it really change anything that we're doing?  No.  At this point it doesn't really matter.  But at the same time it does.  If we're random carriers, the boys could be random carriers.  And I'm going to be forever curious if there was something I did that could have caused this or something I didn't do that could have prevented it.  I don't have some persistent, unhealthy guilt but nagging questions in my mind.  Honestly, I've come to realize as I've talked with more and more PMG families, it is likely we'll never know.  But I'm still holding onto hope.

Moving on!  Speech!  Awhile ago, I read a post on a support group that talked about how her child had apraxia of speech.  I learn a lot - A LOT - from these groups.  So I looked it up. As I was reading it, I realized that it sounded a lot like Luke.  Some of the indicators include the child's receptive language is significantly ahead of their expressive language, the child will have a word and then 'lose' it, the child will often 'grope' for a known word, the child is typically quiet - not much of a babbler.  I mentioned it to our speech therapist and after working with him for a little while she agreed.  She came to me with a book called Becoming Verbal with Childhood Apraxia.  As I read it I realized just how much it fit Luke.  Christine started treating him for apraxia and HOLY COW!!  The kid has taken off!!  It's amazing.  He is becoming much more understandable, imitating everyone and everything, talking up a storm and really starting to communicate.  She tested him and found that his receptive language is slightly above his age level and his spoken language is a few months below.  His articulation test showed how he has many spoken errors.  Between his articulation test, the split between his receptive and spoken language and the positive response we have gotten from being treated specifically for apraxia, he has a tentative apraxia diagnosis at this time.  He also tends to vary his tone of voice and put emphasis on the wrong syllables.  This video was shot a few weeks ago.  It shows the amazing progress he's made as well as how very smart he is!! Whoohoo!! 

As usual, Luke is working his tail off.  He is well within his terrible twos and not only tells us no often, he now kicks at us with a lovely 'HI-YAH!'  (Thanks to Amy, our PT, since that's how she gets him to try to kick!!)  I try not to, but can't help but to laugh at his energy and spunk.  He is starting to be able to really communicate to get his needs met.  He is able to say 'Help, please' pretty clearly.  Today, for the first time, he asked for a specific food that he wanted - not one that was being offered (peanut butter and jelly - soooo my child!).  I usually give him choices that are in front of him that he can pick but today he didn't like my choices and picked his own and I understood what he was saying!  It was a really huge moment!

Our OT has been working a lot of different sensory issues.  Luke remains kind of mystery to her because with some sensory things like ooey, gooey things he becomes very agitated and gets really upset.  He doesn't like squishy balls and things that feel funny.  But then they made cookies and he was fine getting his hands into the gooey cookie batter.  So he continues to stump her...but I have some really great pictures from some activities recently.  Unfortunately, I can't always take pictures because I'm a mess, too, but I managed to get some of the cookie making and shaving cream play (he wasn't a fan of the shaving cream!).

Last weekend we had the opportunity to meet several other families from St. Louis whose children are affected by PMG. It was really nice connecting with them and meeting their children. There were five families all together with children ranging from 1-5 years old. All five families have two children.  It was a busy meeting but so fun!  I'm excited to get to know all of them better and use each other for support.  Here are some pictures from our meeting.
William and his mom, Wendy


Lucas and his mom, Esther

Esther entertaining Luke and her daughter, Eliana, with 'We Are the Dinosaurs'. 
Willow letting me hold her!  Yay for big victories!! 
We're going to be friends, Willow!!

Finally (for now, I'm sure you've all heard enough!!) we leave Saturday for our appointment with Dr. Dobyns.  I'm excited to meet him and see if he has any new information to help us with Luke.  I'm glad he'll be able to see and handle Luke so he can give us his opinion about Luke's development based on HIM and not an MRI image.  Fingers crossed for a safe trip and that Luke tolerates the plane.  I'll update when we get back.

Through the last two years with Luke I'm constantly reminded of how lucky we are and what a blessed and beautiful life we have with both of our boys - even with all of it's insanity.  We are forever thankful for our friends and our family who make this journey such a sweet ride.  All of our love!

Sunday, April 29, 2012

Giddyup, Cowboy Luke!

This was the first few minutes of riding the first day -
I'm not sure what made him change his mind during
that session....
We are almost four weeks into Equine Assisted Therapy.  It's a really amazing program that works on many skills with Luke - it encompasses PT, OT and speech into 45 minute sessions.  I was a little apprehensive about how Luke would handle being on a horse.  I was also nervous because due to his head size, we had to get him a men's size large helmet. It is heavy...and well, LARGE.  Luke was not excited about it.

The first day I show up with Luke and he is going to ride this sweet little pony named Gumdrop.  He's already kind of ticked off at me because I put his helmet on.  Then I put him on a horse and walked away from him.  I wasn't allowed in the arena because I was wearing flip-flops.  I wasn't thinking - duh, of course I can't go around all of the horses with flip-flops.  Ugh.  So...he's doing OK for about 25 minutes.  He's not happy but he's hanging in there.  Then comes 'The Lip'.  For those who have not experienced 'The Lip' when it comes out you have about 5 seconds to figure out what's wrong before a huge WAIL follows.  Well.....the wail followed which was then followed by Luke getting sick on the horse and on one of his side walkers.  And so ended day one.

Day 2 - Yes, we went back.  There are no pictures.  There was no camera involved.  We were down to business.  I had my tennies on and I was ready to go.  We pulled in and Luke says, "Home-uh, Home-uh, Home-uh".  It goes on but I'll stop there.  He was riding a different horse that day named Goose.  Goose was a horse - not a pony so I immediately thought that was our first strike!  A bigger horse could not be a good thing.  BUT today I was prepared with tennies on my feet and tissues in my pocket.  They decided to try it without me going in at first.  That lasted less than a minute before he wailed and got sick again - WITHIN THE FIRST MINUTE.  I wish I was exaggerating.  (Note to self at this point was next time bring a towel...tissues don't clean up puke very well.) 

Now, you'd think that was the end of day 2.  Nope.  The man who was leading the horse had a towel in his car.  He cleaned up Goose and luckily Luke didn't have much on him.  Soooooo we got back in the saddle with me as a side walker this time.  And we sang and sang and sang and got through 40 minutes with a lot of lip but no wailing.  There was  alot of 'All done' and 'Down' but no.  We couldn't stop the horse to participate in the therapy parts but WHEW we made it.  And yes...keep reading for Day 3.

Day 3....
 Day 3 - This time I brought reinforcements!  Dan came with me.  This was the 'make it or break it' session.  I was ready to give up the battle if he hated it again.  So I wanted Dan to come just so he could see Luke on the horse and because I wanted quitting to be a joint decision.  Equine Therapy was supposed to be fun for him.  This two year old has a lot on his plate and he has a lot of therapy so if he HATED this....I was preparing myself to throw in the towel. 

I don't know if it was having Dad there or he had just resigned himself to his horse riding fate but Day 3 was OK.  There was some lip action but not terrible.  AND he participated in the therapy parts and seemed to have fun. Best yet - Dan walked with him for awhile while I kicked back and took pictures and then Dan walked out for about the last 15 minutes and he did fine.  Whoohooo!!!!!!   We go back tomorrow and I'm hoping we've turned a corner! 

Kisses for Goose!

This sweet lady, Jeannie, has been with him all three times.  She
experienced him getting sick both times - personally:(

Luke was keeping the ball in the spoon while Goose was walking
around.  By keeping the ball in the spoon he was
sitting and holding himself upright without holding on. 
There is a crate on the ground.  Luke is supposed to be throwing
the ball into the crate.  While the side walkers support his legs, he
is supposed to use his trunk to bend over and throw the ball
in.  He had different ideas about that - they eventually picked
the crate up for him!   

Noooooo....(we don't know why he's saying it? 
It's over at this point.  Hmmmm?
I don't know who was smiling bigger at the end of Day 3...stay tuned!