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!