Saturday, December 20, 2014

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 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 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.