Summer 2015!!!

The end of the school year has come and gone...the end of preschool.  It seems like such a short time ago I was anxiously awaiting our first big IEP.  Our first big step into the school world.  Now over two years have gone by.  It's been good for him - for all of us. 

Nurse Leah, Ms. Birner, Mrs. Walker
Mrs. Mayer & Luke

Luke's social interaction is rapidly increasing.  It's still not typical but showing steady improvement.  His teacher told me that he increased in all of his social goal areas.  I have seen him talking to and interacting more with other children.  He has been going to kindergarten play dates that are set up by the school.  Mostly he kind of runs around and does his own thing.  But at the last one, he talked to and played with a sweet little boy for a long time and even cried when we left.  He asked about the little boy as soon as he woke up the next day.  It's been really exciting to see him start to even care about playing with other kids. 

When I talked to Luke's current teacher about his progress recently she said she thinks he's ready for kindergarten.  They've worked really hard with him but she said that he's ready for this next step.  I feel like he is...but I'm still so nervous.  But I guess I'm pretty nervous before each big step....every parent is! Luke has grown a lot with his teachers the past two years.  We've also had a lot of hand holding by his nurse, Nurse Leah.  She only works with the early childhood kids so we are moving on to new teachers, new therapists, new nurse....EEEK.  

Exciting stuff...Luke is learning to write his name!!!  He's been doing pretty good with hand over hand assistance but the other day he just picked up a marker and did this independently.  It's so fun to see such great progress! 

All. By. Himself!!!!

His seizures have been pretty under control (as usual...knock on wood, please!).  We had a little hiccup a few months ago when a few came completely out of the blue.   Otherwise it's been pretty under control.  We've gone over a year since his last big status seizure.  I hope we can make it a LOT longer than that....maybe forever!  That's not too much to ask, right!  We are continuing to work with his epilepsy doctor to decrease one of his medications and get him down to two and hopefully eventually to one.  As we decrease this medicine we can see him changing - becoming chattier and sillier and more outgoing.  I'm really hoping that we can safely have him down to two by the time he goes into kindergarten. 

First hour into an almost 3 hour
neurologist appointment with
both boys...oy!  

I try not to worry about it too much. One of us still sleeps with him every night and at this point the plan is to continue that until he can tell us he is having/has had a seizure...So maybe forever??? Ha!  I hope not!  When he had some unprompted ones in March, he was able to tell us he felt wobbly which I thought was progress.  It's really, really hard to make the call to STOP sleeping with him, though, since we're always afraid of missing something on the monitor.  We've ordered a device called the Embrace which is supposed to be able to alert us to his seizures but there has been a delay in distribution. 

Reading stories together.

This summer we're settling down...We're not sending him to summer school.  We're decreasing therapy (decreasing, not stopping!).  I don't know if it's the right choice but I feel like the whole family could use a little break from everything.  I'm hoping to do lots of play dates with friends that I never get to see during the school year.  I think that's the best therapy for all of us! 

The Big Five!

Happy St. Patrick’s Day and Happy Birthday, Luke!!  Five years old!  Luke is really excited about his birthday this year.  He has been doing really great overall (knock on wood!).  He hasn’t had a visible seizure since July.  We’ve even started weaning down two of his medicines.  As we’ve been coming down on them, his whole personality is changing.  He is becoming far more outgoing.  He has been walking up to complete strangers and talking to them.  I even got lectured by a man in Wal Mart after Luke started chatting with him…if he only knew how huge it was for Luke to talk to him and use a volume that the man even heard him!  It makes me a little nervous as we decrease medicine but also very excited.  His epilepsy doctor would like to get him down to two and hopefully eventually to one! 

Luke's new bike!

We’ve been struggling with potty training for quite a while now.  Luke is able to stay dry for really long periods of time but he does not tell us when he needs to use the restroom.  Unless someone remembers to ask him on a regular basis if he has to go to the restroom (and usually force him to go), then he’ll eventually wet himself.  On the weekends and when he’s with his Grandma Beth, he’s in underwear 100% of the time with little to no accidents.  Soooo since he is turning the big  ‘Oh-5’ tomorrow, we’re going to go ahead and start sending him to school in underwear.  He’s on spring break right now so he’ll be at our daycare this week.  At his preschool, he’s been started on a potty chart.  For some reason he will not use the restroom there. If I take him to school, he will, but he will not use the restroom for his teachers. He stays dry the entire time he is there so I am not sure what is going on…little mystery man! I don’t know why he’s not telling people when he has to go when he is clearly able to stay dry for long periods. 

Luke is officially registered for kindergarten!  We had his formal IEP/transition meeting several weeks ago.  I was so nervous about it but I feel like it went ok.  Luke has really been struggling with fine motor skills for a while now.  We were really hoping to get his occupational therapy minutes increased in the school setting. Right now, we are able to take him for 120 extra minutes a week to private occupational therapy.  I don’t know if he’ll be able to tolerate that next year since he’ll be in school full days.  We were not able to get his school OT minutes increased which is really disappointing.  They’ve assured us that they have several plans in place to help him in this area.  He will also have someone with him at all times to make sure he is where he is supposed to be and safe.  We were also worried because he still doesn’t always recognize environmental dangers such as stairs and uneven surfaces.  And of course we are concerned about the possibility of his seizures vamping up.  They’re so hard to notice!  It will be nice to make sure there is someone with him at all times that is able to administer his seizure medication if needed – hopefully not!  He’ll have a lot of therapy minutes but also quite a bit of time in the regular kindergarten setting.  I don’t know what the best fit is for Luke but we really want him to try.  I feel like there is a good plan in place and it’s a great place to start. 

We love bike riding - we finally found an option for Luke to ride the tag along bike.

Since before Ben was born, our family has worked with Parkway’s Parents as Teachers program.  Our parent educator, Lori, came out to visit with Dan and me while I was pregnant with Ben to talk about early development. When we told her about Luke’s brain, she immediately jumped in to help.  She has been an active member of team Luke from the beginning.  She has found resources and websites and just offered her personal support through the last five years.  She recently has gone on to another job within Parkway and we’re really happy with her.  She was still working with Luke on a regular basis due to his special needs.  She would not have been working with him past five so we were fortunate to have her up until the end!  Here is a photo of Luke and Lori at her last visit.  We miss her already, as we miss so many of the others who have been there for us and helped make Luke as successful as he is. 

In other hopefully exciting news, we have recently learned about a watch called an Embrace.  This watch is designed to detect seizures even when the seizure is not primarily movement.  It works through some kind of smart sensors that detect physiological signals and will be able to send an alert to a smartphone or ipad.  Since Luke’s seizures got so bad last winter/spring, someone has slept with Luke every night.  We do not know at what point we would be comfortable taking a deep breath, hoping for the best and letting him sleep on his own. This watch is not going to be our savior.  We know that. But at the very least it will hopefully give us a little peace of mind.  Quite honestly, I hope we don’t know for a very long time (if ever!) if it really works well.  I hope and pray Luke never tests it but if he does, I sure hope it works!  Keep your fingers crossed!  It ships in July!! 

Overall our sweet leprechaun has been doing great.  So great!  He’s reading a ton of words.  He’s getting faster and stronger.  He’s talking a ton and is obsessed with knock knock jokes. His teachers at his daycare, Lakeside, have been working hard to teach him a variety of jokes! 

I feel like five is a huge milestone.  I reread our first post and am overwhelmed by the emotions I was feeling then…continue to feel now.  As I browsed through our journey I am truly constantly reminded how much support and love we have felt over the past five years.  As time goes on, we continue to be blessed with fabulous family, friends, teachers, and therapists.  We are so lucky to have you all in our lives.  Happy St. Patrick’s day and of course, Happy, happy birthday to our sweet Lucky Luke (click here to see a little hodgepodge o' silliness!)!

MPPH Research

It's been so long since I've posted, I forgot how to make a new post!!  Whew, it's all coming back to me now!

Luke is now a  few months away from 5 - FIVE!  I can't believe it.  His seizures (dare I say it as we head into winter!!!???) have been mostly under control the last 5 months.  He had some questionable behaviors this fall and we increased his medicine and that seemed to fix things. 

He is blossoming right now as he is becoming more interactive with other peers.  He's always been fairly social with adults but interacting with his peers has been a challenge and frankly he seemed uninterested and sometimes afraid of his peers.  Ben has a friend whose little brother is just a little older than Luke and he's really sweet and persistent.  His persistence has paid off and now Luke looks forward to seeing him and plays alongside him.  It's really sweet to see. 

He continues to amaze us with his spelling powers!  He's reading simple stories and often spells as he is talking to us.  He'll say, "Are we going to g-r-a-n-d-m-a-s?" You have to listen closely to figure out what he is talking about sometimes. 

We have his kindergarten (!!!!!!!) transition meeting coming up sometime in the spring.  I'm nervous and excited at the same time.  I'm not sure what kindergarten should and will look like for him.  I want him to feel comfortable and successful and continue to learn a lot.  Writing continues to be a major issue for him and I know that will be difficult as he moves forward.  We started private OT therapy a little over a month ago.  I'm not sure if it's the new therapy but we've seen a lot of improvement since he started.  He's starting to be interested in writing and coloring.  We increased to twice a week and thanks to my in-laws taking him once a week, it's doable for our family. 

About two weeks ago, I had the opportunity to talk to Dr. Ghayda Mirzaa.  She is one of the doctors who is researching MPPH in Seattle.  Due to Luke's brain size and malformation his epilepsy is a little tricky.  This past winter when we were really struggling to control his seizures, I reached out to her to find out if they'd identified any children with the same gene mutation who was having a similar epilepsy experience.  The thought was - from us and Luke's doctors - if they have other kids who have the same gene mutation and  brain malformation then maybe they'd have similar epilepsy.  And maybe someone, somewhere was having better luck controlling it than we are.  The answer was no...no they don't have many more kids identified with the same mutation, no they're not sure about the epilepsy. 

Currently there are 4 children involved in their MPPH study who have the PIK3R2 mosaic mutation.  I know one of the families and have talked about him on here before.  His seizures have largely followed the same pattern as Luke's and as he is switching up medicines, his mom checks in with us to see what we've tried next, what has worked, what our doctor's plans are.  He's developing very similarly to Luke, too.  His mom and I talk often and come up with our own scientific theories:)! 

Dr. Mirzaa contacted me to check up on Luke but also to let me know that they are embarking on an in depth research study on epilepsy and MPPH.  She is teaming with the director of pediatric epilepsy at Washington University to look at MRI's, epilepsy videos, EEG reports and neurological notes to hopefully make solid connections about epilepsy and MPPH.  What that could mean for Luke would be better ideas on how to control his epilepsy.  The gene mutation that he has is the 'golden' gene of MPPH.  So far, from what they know, most of the kids with that gene mutation and epilepsy, have seizures that are well controlled.  There are two other gene mutations associated with MPPH and the seizure control with those mutations is trickier.  I'm really excited that her team is making an effort to get a better understanding of MPPH and epilepsy.

At this point, there is a relatively small pool of subjects that the doctors have to work with.  So what I'm asking, if you're reading this and your child has been diagnosed with MPPH or you suspect your child has MPPH, contact Dr. Mirzaa.  Get involved in the research.  It won't cost you anything.  They've even found the gene in some children who do not officially have megalencephaly.   If you're child has a larger head and PMG, contact the office, tell them a little about your child and see if your child 'fits'. 

The realistic part of me thinks that while all of this research is exciting, I feel like being involved will help others more than it will help us at this point in time.  It may help someone whose brand new baby has just been diagnosed with all of these huge words that the parents can't pronounce or remember how to spell.  Maybe they'll be told they have the same mutation as Luke and the doctors will be able to say that they have several children identified with this and tell these parents how the kids are doing and maybe, just maybe, they'll be a little less scared than we were (still are a lot...). 

So, if you are reading this or have read about Luke and you think that maybe your child's facial features look a little like this darling boy or your child has PMG and his/her head size is large or a touch too large and you're looking for answers...click here. It will take you straight to the megalencephaly lab where you can contact Dr. Mirzaa or her awesome assistant Carissa Adams. 

We're hoping for an uneventful holiday season.  Luke is doing so much better than last year at this time so I'm really hopeful.  Our family thanks you for following Luke's story and for all your prayers and love.   Wishing all of you a happy and healthy holiday with all of your loved ones. 

Christmas in June and July!

Sooo much great stuff to update and so little time!! 

*The Epilepsy Walk:  Our team raised over $6,000 for the Epilepsy Foundation of Missouri and Kansas. I cannot begin to tell you what that means to us.  Luke's seizures have gotten better since we started the new medicine.  But he has had some breakthrough seizures, although, not horrible ones.  So we've increased it twice now and are hoping that is it for awhile. But I don't want to dwell on that except to say thank you for providing money and awareness that will hopefully be beneficial to him sooner than later!  We also had close to (maybe more than...) 70 people come to walk with our families and SOOOO many more than that offering words of support and encouragement.  It was a truly special day and I can't find the appropriate words to express our appreciation for all everyone did.  So thank you. 

*New Jersey:  The boys and I had the opportunity to go and visit with a special PMG friend, Michelle, and her family.  She started out as a PMG friend and quickly developed into just a friend - someone who I would like to believe I would have somehow met even if PMG wasn't in our lives.  I've been fortunate to develop several special friendships since Luke's diagnosis and that has been a silver lining in the situation.  Anyway, we flew out to New Jersey to spend the week together.  It was such a great time.  We were treated like royalty by both her family and her husband's family.  They all follow Luke's story and offer words of support and prayers in good and bad times.  It was nice to put faces with all the names and have some quality time together - although I'm pretty sure we STILL never finished an entire conversation! 

*Stroller:  I've been researching special needs strollers for awhile now.  Luke walks well but he tires easily and when he's struggling with seizure control he gets especially clumsy and even more tired.  He's fallen several times and the spot on his head that he hits now has a permanent knot.  Upon researching special needs strollers, we discovered that they're crazy expensive!  Imagine my surprise and joy when insurance assured me that with a doctor's note it would not be a problem to cover the stroller. I know, I know...silly me!!  Well, first of all, it takes for-ev-er!  UGH!  Second of all, after waiting forever, they denied it because we already have a wheelchair and a stroller would be a convenience item.  (For those of you who know us, you might be scratching your heads right now, wondering...wheelchair???)  We DON'T have a wheelchair!  I called, thinking it's an easy fix.  I know, I know...silly me.  Again!  They told me we'd have to go through a whole appeal process which would again take for-ev-er!  AAAGH!  I might've lost my cool a bit here....within minutes of hanging up with them I get a text from my friend, Andrea (side note about her below), saying she might have a surprise for me.  Long story but she happened to check a special needs website and find a woman who was giving away the exact stroller we wanted.  GIVING AWAY.  Not selling - GIVING AWAY COMPLETELY FREE!!  Andrea immediately texted her and was the first one and GOT LUKE THE STROLLER!!!  We picked it up today and it's wonderful.  He has so much more room and will be able to use it for a long time.  I tried to give her - Rebecca - something, anything for the stroller and she refused.  She is an awesome person with two boys who both have Dandy Walker Syndrome.  I don't know how to thank her appropriately so I'll be looking for a way to pay it forward in her honor.

Rebecca, one of our own personal Santa Clause's!  We LOVE YOU!

Speaking of Andrea - her daughter, Willow, who has the same gene mutation as Luke and PMG, is in the hospital right now.  So while Andrea was (is) in the hospital taking care of sweet Willow, she was also looking out for Luke and thought of him immediately when she saw the stroller available.  We are so blessed to have friends like her in our lives.  Please say some extra prayers for sweet Willow.

Willow's first sweet smile in DAYS! 

Dan, Luke and I met with his new epileptologist last week.  Dr. Weisenberg is amazing. She's very direct which we loved.  She has several plans in the back of her mind if the Onfi doesn't do the trick.  Since he's having breakthroughs we're increasing the Onfi again and we're actually going to start decreasing one of his other meds.  I know that sounds strange but the fact is that he's on too high of a dose of his other two meds anyway and sometimes *that* could cause seizures.  He's also becoming increasingly lethargic and clumsy which is worrisome. So we're taking a deep breath, saying a prayer and giving it a try!  Wish us luck. 

Overall as you can read...we have way more good than bad.  I'm always thankful for that! Hope everyone is enjoying their summer!  We sure are!  Love to you all! 

4th time's a charm?

Snoozing in the hospital waiting for a discharge!  How stinking cute
is he??

We are all really happy to be home under one roof again.  Luke had a nice day and is doing pretty well.  He's still unsteady but we expect that. 

The great news is that we were able to meet today with Luke's new doctor,  Dr. Weisenberg. She is very direct and a great listener.  We were concerned about increasing one of Luke's medications because the current medications are clearly not working.  She agreed and we are immediately going back down to our regular dose.  We started his new drug,  Onfi, tonight.  The scary thing about it (well some of the scary things!) is that some of the side effects were things we typically watch for as pre signs of seizures - clumsiness, extreme drowsiness, drooling...so that makes it even trickier to determine if he is having seizures or about to start having seizures. 
One of the reasons that provoked my hate post yesterday was the way his seizure presented Saturday night.  My mom was watching the boys while Dan and I ran down the street to grab a drink.  I told Grandma 'Ancy (both boys drop the 'n' in Nancy!) that she shouldn't talk to them because they'll both talk as long as she'll let them.  Luckily in true Grandma fashion, she ignored me and was having a good old time talking to the boys.  Ben - who was NOT tired - fell asleep pretty quickly.  Luke was pretty chatty, though, and she and Luke were having a fun little conversation.  As she was talking, she realized he had stopped responding.  She looked at him and noticed his eyes were deviated and he wasn't returning conversation. She immediately called us and we were home within 5 minutes.  As soon as we saw him, we knew he was indeed having a seizure.  We were able to administer the emergency drug while calling 911. 
On a normal night, it would have been me in bed with the boys.  I sleep with Luke every night while Dan watches the monitor.  When I put them in bed, I usually read a book on my phone or Kindle and remind them to be quiet so that they will fall asleep.  If it would have been me in there - I have no idea how long it would have/could have taken for me to notice he was having a seizure!  He never threw up after that seizure which is how we find out a lot of times he is having a seizure.  As he is seizing, Luke's blood oxygen starts to deplete.  It usually takes a little while but either the seizure or his head position begins to compromise his blood oxygen.  We have always counted on him throwing up during his nighttime seizures to alert us to a problem.  So we were even more anxious to bring him home because nighttime is a scary time in our household.
He was hooked up to the pulse ox machine during the night because he went into a second round of seizures and his O2 levels were dropping.  I mentioned to the nurse that I wished we could have something like that at home and she said a lot of epilepsy families use them.  I've looked for nighttime devices before but they are mostly for seizures with movement involved - Luke has ZERO movement.  Zero.  Anyway - long, long story with discussion back and forth - but Dr. Weisenberg sees how something like that could bring us some peace of mind and is going to have her nurse start looking into how we could get one to use while he's sleeping.  Truthfully, if we got one it would only really detect a seizure if he's been in it for awhile because it usually takes awhile for his O2 levels to drop.  But at least it would be able to tell us that his breathing was reaching dangerous levels.  It's better than what we have now - which is nothing! 
So all in an all...Dr. Weisenberg is a hit.  AND even better - we're still seeing Dr. Smyser in 6 months to check in, too.  Best of both worlds! Yay! 
Fingers crossed that the saying '3rd time's a charm' is inaccurate and they really meant '4th time's a charm!'  Go Onfi!! 

Attempted selfie with my other little monkey who I was excited
to see....this is why I don't take selfies.  Well, one of the reasons. 
I took 3...this was the best one! 

 

Alright seizures.  Can you please go away for good and leave my kid alone? Grrrrr!

We're back at Children's and hopefully we'll go home tomorrow.  We are increasing a medicine that's not working anyway and hopefully adding a new one tomorrow that will take our little 4 year old,  43 pound,  43 inch kiddo up to 3 anti-epileptic drugs. Awesome.  

I hate seizures.  I hate the medicines that aren't working.  I hate watching Luke cry as they poke him with needles and inflict pain to determine if he's having a seizure.  I hate watching him stumble and slur his words looking like he should look on his 21st birthday,  not at 4. I hate listening to the baby crying down the hall at the beginning of this journey.  I hate feeling like I'm always, always waiting for the worst to happen and it keeps happening.  I hate that while I'm waiting,  I always feel like a crazy person.  I hate being a big fat whiner when there are other precious kids who have it so much worse.  I hate being away from Ben...again.  I hate that I'm still finding my voice and my strength to stand up for what I think is happening to or what is necessary for Luke. I hate missing the second to last day of school with my first graders and I hate that I'm not going to be with Luke on Tuesday so I can be with my first graders on their last day. I hate not knowing how he is feeling or if he is in pain.  I hate that I feel so much hate.  Whew. Thanks for letting me get that off my chest. 

I love,  though,  so much. I love our families and friends who are always willing to listen and pitch in. I love new friends who are helping to make sure Ben feels special.  I love my little boy who called the tech a booty butt (not deserved but I enjoyed the spunk!) and blew raspberries at her. I love the nurses and doctors who are trying their darnedest to help our family.  I love that we found out that we might be able to get a hospital pulse ox monitor because his oxygen levels drop during his seizures which might give us a little peace of mind at night.  I love my friend who is yet again going to make sure my classroom is up and running for the substitute tomorrow.  I love the texts and emails and support that always makes me feel like we're not in this alone. I love the friends I have made because of Luke's diagnosis.  I love my husband who is with me every step of the way. I love my boys who are going through life calling each other names and laughing and making arm pit farts. I love those things and so much more.  

Since Luke has been so unsteady lately we've been
holding his hand on the stairs.  Ben now insists that it is HIS
job to get Luke down safely. 

Hopefully we'll go home tomorrow. Hopefully we'll add a new medicine so I'll have renewed hope that this ugly stage is behind us. We'll meet our eptologist officially in a few weeks.  Let's all hope that the past seven months can be the past and our future doesn't keep going this way. 

Thanks for listening.  Love from SLCH..... again.  

Gratitude!

Luke has been doing really well.  He is on his full dosage of his new medicine.  His new medication was increased quite a bit and he's still on full dosage of his old medicine.    He's a little grumpy, drooling a little, and waking up some at night but otherwise OK.  He seems back to pretty much normal which is nice.  It's a little stressful since we thought he was doing really well when he had the last seizure but we have to find a way to take a deep breath and enjoy the peaceful time we have right now.  We follow up with our neurologist in early May which I look forward to.  It's always nice to sit and chat with him in person. Hopefully there's nothing new to report to him!



Chowing on cupcakes!

I always mean to write when Luke is doing well.  However, I seem to share when we're struggling mostly so I wanted to do an update while he's doing well!  He is almost finished with his first full year in preschool through the school district.  With his medical difficulties it certainly has been a rough year.  Our daycare, which also operates as a preschool, has been incredible.  Without them we would not have been able to send him to the school district school.  The biggest reasons I wanted to send Luke to the school district was to have his therapies and have smaller adult to child ratios to really encourage the social interactions.  Our daycare volunteered to take Luke back and forth because Dan and I couldn't do it.  Socially he is making huge strides.  I still wouldn't say he's 'typical' but he is starting to make progress.  He talks constantly about a little girl named Reham.  He keeps asking me to call her mom so they can have a play date and a sleepover!  He's totally skipping just playing and going straight to sleepovers! 

Today I picked him up from daycare I was told he took off his pants outside!  And he's been telling everyone that there is a 'hotdog in his booty butt'!  What!?  He's turning into such a nut. 

It's really nice to have places where we feel comfortable taking him during the last few stressful months.  I know that both of his schools are well equipped to handle a seizure if it happens to occur.  We are fortunate because the only babysitters we use outside of family are two women who have known Ben and Luke for awhile because they are teachers at our daycare.  They know him really well and I feel comfortable knowing they'd recognize behaviors that were out of the ordinary.  He has quite a team of people looking out for him!

Speaking of teams, I also wanted to update about the Epilepsy Walk.  We are SO fortunate because due to the love our family, friends and even strangers, we have already surpassed our goal.  The walk isn't until the middle of June!  I am overwhelmed and feel so blessed.  If you are planning on walking with us, don't forget to join our team before May 26th so you can get a Seize the Day t-shirt.  I haven't been able to personally thank everyone who has shared/donated/joined yet but I will.  In the meantime, please know how much it means to us.  I have big hopes of funding going to things like better medicines to control epilepsy and seizure detection devices that will detect the kind of seizures Luke has.  Together I feel like we're doing something really important for Luke and many others and that is an amazing feeling.  So thank you.