Tuesday, March 17, 2009

Lots to update on!

Well, where to start...so much going on...

We had a fantastic trip to Detroit, MI & Loveland, OH. We spent great time with family and cousins, and learned a wealth of information from Dr. Chugani.

Lily loved having all that space to roam around in the airport:




In Detroit, everyone in the EEG lab was fantastic. They bundled Lily up super tight, making it look like a little EEG Spa:


Lily did fairly well in the hospital over night:


The overnight stay was tougher than I'd planned for. Lily was confined to the bed 100% of the time so she could stay on camera. Also, they require the parents to stay awake the whole night so that we can "push the button" when/if the child has a seizure. Lily doesn't have siezures in her sleep, so I wasn't prepared for this. WHat made it especially tough is that the rooms don't have a "parent light" over the seats, so I couldn't have any light on to read. Also, they block a lot of the channels on the TV so no Law & Order or Sex & the City re-runs to keep me entertained. No laptops allowed. I had loaded some tv shows on my iPod to entertain me, but I had no battery due to a little mishap the night before. :( So that was tough.

All in all though, the overnight went fairly well. We went direct from EEG to the PET lab. EVERYONE working in the PET lab was just amazing. They were warm, accomodating, gentle, and supportive. THey were so great with Hank, always making sure he had toys & entertainemnt. THey had a 2nd little waiting room that they let us just take over while we were there.

Waiting for the PET:


G'nite, little bean:


Hank works on the scan:


We ended up having both kinds of PET scans, the FDG & FMZ (the FMZ is the "study" PET that Dr. Chugani is running) so we had to go back on Wednesday for the 2nd scan.

On Thursday we met with Dr. Chugani to go over all the results. He spent nearly two hours with us answering tons of questions and discussing Lily. What we leared is that Lily is not a surgical candidate, and will not be in the future either. We can cross that option off the list.

Lily has bi-lateral hypometabolism in the temporal & parietal lobes of her brain. These areas of the brain control the higher-functions of learning and function: visual processing, memory, and language among other things. Dr. Chugani showed us pictures of the scan and the hypometabolism (areas where the brain doesn't process glucose as well) is nearly identical on both sides.

The most interesting thing about his observations of Lily was how he picked up on and really spent a lot of time talking about her autistic features. He talked about a small sub-population of kids with infantile spasms who are also autistic. This sub-population, kids he's observed for 15+ years, all have similar features, similar PET scans, and similar behaviors. This leads him to believe that htey all have some sort of undetermined genetic condition that leads to this. Dr. Chugani is also running this very large-scale gene bank that we all decided to participate in. We all (including Hank!) gave a vial of blood that will periodically be run against new findings in genetics. Dr. Chugani has access to the super-duper genetic tools that the NIH has, so he's making great strides in this area.

Dr. Chugani does not think that the cause of Lily's seizures is a mitochondrial/metabolic issue, however we take that with the same grain of salt that we take Dr. Saneto's believe that her seizures ARE mito related. Everyone has their biases and interests...we'll pursue them all until/if we ever find something. (A definitive answer/diagnosis likely won't change the course of Lily's life, but could have implications for Hank's reproductive future, and if we decide to have any more kids in teh future.)

One of the best things Dr. Chugani was able to clarify for us was with regards to the distinction between development & seizures. We'd always operated under the belief/assumption that the learning was directly linked to seizure activity. Must stop one to achieve the other, wehn in fact they are separate. This really tied into his observation of Lily's autism. He encouraged us to aggressively pursue theraipes designed for autistic kids. As I mentioned in a previous post, some of our other IS friends have had great success with ABA therapy. Dr. Chugani encouraged us to "embrace" her autism diagnosis, let go of feeling like posers, and use that diagnosis to get whatever therapies & treatments we could for Lily.

(Despite getting the autism diagnosis in August, I have been reluctant to embrace it and jump into the autism community as I didn't feel like Lily was "autistic enough". I don't believe her seizures/autism were/are caused by vaccinations, and I'm not necessarily going to pursue biomedical treatment for her. Finding acceptance as a parent of a child with special needs is tough enough; I didn't want to be "shunned" from the autism community. Dr. Chugani encouraged me to let go of all these feelings and jsut do what was best for Lily. Come to find out, he was totally right, and I'm learning SO MUCH about therapies and thigns to do with Lily!)

So, along those lines Lily starts her assessments for the ABA program next Monday. I'm thrilled to have hooked up with A.P.P.L.E. Consulting to provide Lily's ABA. One of our therapists is a good friend of my sister-in-law, Tiffany, and was in her wedding last summer. I was fortunate to spend time talking with Hayley about Lily and learning about how ABA will really help Lily's development. I'm THRILLED to be starting it next week.

Also next week, Lily has an AAC evaluation at Seattle Children's. This is another thing that neurodevelopmental suggested we do last August (and it took this long to get it scheduled, YIKES!). AAC = Alternative & Augmentative Communication. It's a two hour long eval and at the end, recommendations will be made about programs to use to teach Lily communication. We're going to have a large team of Lily Supporters at the AAC; her SLP from Cascade will be there, as well as her teacher, paraeducator, and PT from school will be there. Of course, Todd, Hank & I will be there, and Amanda our Nanny is coming too! WOW! Lots of people behind Lily, supporting her, and wanting her to get as far as she can!

Day to day, Lily is doing just great. We're so very happy we stopped the ketogenic diet in December. Lily is so much happier! We feel that it has also really increased her fine motor skills, as well as communication. We're using a few PECS with her at meal time (she can use the PECS to ask for more cheerios & a drink). She did the most amazing thing the other day! She was hungry, and whining a bit. So she came over to me at the sink, took my hand, and pulled me over to her high chair, indicating that she was hungry and wanted to eat! Of course I whooped it up and rewarded her with a snack!! GO LILY!!!!!!

Lily is done with the Ganaxolone study, and we've started her on a new medication called Banzel. Banzel was developed as an adjunct therapy for kids with Lennox-Gastaut, a different but related seizure disorder. We've seen good results with it, however we aren't seizure free. We're in teh midst of trying to decide if we're going to add a 2nd medication to her cocktail, or where to go from here.

All in all, we're in a good place right now.

4 comments:

TiffanyKirkpatrick said...

Wow! How did I not ever know about this blog? I love it. Thanks for posting Kate.

Jonathan said...

I had chills reading this whole post! I can relate in SO many ways. I've been emailing Chugani off & on since Trevor's IS resurfaced in Sept. And have spent most night fantisizing about hopping on a red-eye to see him! *smile* I'm SO happy that you & Lily were able to. And that he was able to bring you to peace in so many different areas. I've always struggled with feeling like a "misfit"...even in the IS world. Trevor was seizure free for 8 months...and I even had some well-meaning people tell me to move on that he was cured. I remember feeling so lost. And even after his IS resurfaced...I've struggled because in so many ways he's a success in spite of his seizures. I'm so happy you shared Chugani's thoughts on seizures & development. It's one of those things that's so bizzare! Right now Trevor has at least 100 seizures daily...but we have not lost any development. Forward movement is VERY slow. But we haven't lost anything. Which is why I can relate to your feelings with "coming out" of the Autism closet. :O) Anyway...

Thank you for opening your heart & life with Lily up to the world at large!

Would you mind if I added Lily's blog to Trevy's? And if I mentioned this post in particular?

Thanks! Sorry for the book!

...danielle

baby trevor's mommy said...

oops...I was logged in under a alias! *wink*

...danielle - trevor's mommy

catsmum said...

Has Lily been tested for Cdkl5?
From what I have read of her blog she fits into the Cdkl5 picture. She is beautiful.
I am mum to 3 Cdkl5 children and have set up this website http://www.cdkl5.com to spread awareness of this newly discovered gene.
IMO it would be worth having a look at before you go down the line of a muscle biopsy.

Hugs to you and Lily.