Things have been going really well for Luke. He's is over a third of the way through kindergarten and loving it! He is socializing more and more with other kids which is probably my favorite thing that is going on with him. His teachers, therapists and aides have been working hard to make sure he is successful. He doesn't like to say hi or bye for some reason and sometimes doesn't respond when he is spoken to. One thing they've done is when he responds he gets points and after a certain amount of points, he gets to see one of the school's two therapy dogs - that is great for him!!
Last year one of our big concerns was writing. Now he's writing and almost - ALMOST - willingly! It's not always his favorite thing to do but he's doing it. He's still behind in this area but he's gaining skills quickly. He knows all of the teachers first and last names and I'm not sure that he's NOT calling them by their first and last names. For Halloween, he decided he wanted to be one of his teachers. It was really cute! We're really happy with how things are going for him so far this year.
His seizures have been popping up about once a month since July. He has finally topped out of the medicine that has been really working for over a year. It's still 'working' but not well anymore. Since he's at the highest dose our doctor wants to put him on we have to figure out what the next step is. So we're going to be spending a little time at Children's this week. He's having an extended EEG. We just got here this morning and he was NOT happy being hooked up but he's doing ok now. The doctors are going to take him off some of medication this week to trigger a seizure on the EEG. They will start by reducing some of it and possibly removing some until he has a seizure. So far Luke has never had a seizure while hooked up to the EEG. His doctor wants to see where exactly his seizures are triggering from before she decides what is next. There's a surgical device called a Vagus Nerve Stimulator (VNS) that is the leading choice right now but she has to see his seizures on the EEG before she decides. So far he's had ice cream, sour patch kids, chocolate milk and is desperately seeking a popsicle! I'm trying to make it as painless as possible!!!
Since he's been doing pretty good since the middle of October we're really nervous about 'rocking the boat' right now. But we don't have a plan once he breaks through again and getting into the EMU (epilepsy monitoring unit) is pretty difficult. So here we are...Hopefully we'll get some good answers and be able to step in the right direction. As usual, we have been blessed with an abundance of help with Ben and with my classroom which we're very grateful for. We'll be hunkered down for the next couple of days enjoying some time together!!
 |
| Working on homework!!! |
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.
Luke had a really good week! No more seizures! He seems to be adjusting to his medicine well. WHEW! Every day that passes without a seizure helps us to breathe a little easier. We so appreciate all the sweet words and phone calls this week. It helps us so much to know that people are thinking about him and pulling for all of us.
We met with the neurosurgeon this week and I just wanted to give you a little update on that. First of all, I didn't think there would be a need for an update. I thought (as my sister in law says) we were just going in for a 'meet and greet.' Not so much. There is no huge alarm right now but it was disappointing. I thought we knew all that was wrong with Luke's brain. And we might. But we might not. Basically in a nutshell (since I keep writing these short novels!!!) the surgeon is concerned enough about the enlarging ventricles to order another MRI sooner than later. He thinks there might be another problem in Luke's brain where there may be a blockage not allowing the spinal fluid to pass through therefor causing the enlarging ventricles. Both problems are correctable...surgically. BUT no one is saying that we are anywhere near that now - or (HOPEFULLY) ever. I think that I have been telling myself that surgery wasn't really ever a possibility so it was a little bit of an eye opener to me. Thankfully Dan went into the meeting more realistically so a level of calm was maintained!
The great news is that the day we have the MRI we will also meet with the surgeon and should have our answers. He said at this point, best case scenario is we go in for the MRI and not much has changed and we come back for another in 6 months. So that is what we are hoping for. After having a little time to process, we're glad that he's getting this MRI sooner than later because then we know that he is being monitored closely and if the ventricles are enlarging enough to become a problem then it will be caught quickly. The problem is that the signs that the enlarging ventricles are a problem are the SAME as the side effects of the medicine and the aftershocks of seizures!! So it's really a blessing for our peace of mind to get this MRI quickly.
The MRI is tentatively set for October 28th so again we wait...I should have called this blog 'Waiting'!!! :) Honestly, right now our biggest concern is making sure his seizures are under control and at this moment in time they seem to be. So we are very happy!
This fall has been a little bit more difficult than we anticipated. We are very lucky to have understanding employers, caring and concerned friends and a loving family to get us through. We continue to celebrate the fact that Luke is doing far better than we ever expected. We'll update more after the MRI! Fingers crossed for another 6 month waiting game!!!!!!
I started this way earlier today. Since then I found out a good friend's son had a major seizure today. There are major and minor ones. To every parent, seizures are major ones. But I need to remind myself often and be thankful that we have only really had minor ones so far and hope that it continues that way. To all the families out there who are experiencing any kind of seizure or worrying about the probability of a seizure...our hearts go out to you. Thinking of you J & hoping you are all resting well tonight...
