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.

Chug-chug-chugging along

Well, Lily's MRI was cancelled at the last moment due to her having a cold a few days prior. The anesthesiologist was concerned as it can complicate sedation, and since he's not right in the room by her, he just felt the (small) increased risk wasn't worht it for what is, ultimately, an elective procedure.

So, we're rescheduled for 4/29.

We've increased Lily's ketogenic ratio to 2.5:1. So far, so good. One really great thing is that I've finally figured out a way to get Lily to drink the cream! I figured out the right combo of dilution (to make it the consistency of milk) & flavoring (a little sugar-free vanilla syrup + 5 drops of bickfords banana flavor). I also created a couple meals with some of her favorite foods. She's now having some Cheerios occasionally (there are actually a good amount of Cheerios in only 6 grams!), and I also found out about Miracle Noodles which are basically just soluable fiber (thus, no calories or carbs) shaped noodles. So I was able to make her a fairly tasty Mac 'n Cheese meal. It has a really good volume to it, so I think she actually *felt* full for once in a long time.

She's drinking water very consistently (hooray!) which is great as we learned recently that her last round of labs indicated some dehydration.

We started the paperwork to transition Lily in to the developmental preschool in our school district. She'll have the full round of evaluations in the next month, and then at the end of May we'll meet to discuss her eligibility. Finally, in mid-June we'll meet to draft Lily's first IEP. I'm already gathering all my information, and formulating what I want on her IEP right now. I'm talking with lots of friends who have knowledge of the process, and getting my arsenal of advocates in my bag.

Todd & I are heading out this weekend to Vegas for our 1st vacation since having kids. I figured out it has been nearly three years since we've been on a vacation of any sort. I'm very much looking forward to leaving the twins with my parents, and being able to just turn off my brain for three days. blissssss

Home from the hospital, WHEW

Well, we made it through our first admission & 24-hr vEEG. It actually went better than her first 24hr EEG went back in January. We originally asked for a crib, but once we got to the room, we realized that a regular bed would be much easier as then we could sit on the bed & hold her on our lap.

Turns out that was the right choice, and she did really, really well. Her EEG is still abnormal, however she doesn't have constant hypsarrhythmia. She does have a modified hyps while sleeping. It was tough that Lily didn't go to sleep until around 11:00pm on the 1st night (her normal bedtime is 7:00pm), and then she was awake from about 2:30-5:00am.


playing on the bed (you can really see how flexible she is in this picture!)


all smiles!

resting on mama


the hospital has a program where volunteers bring in their dogs for visits. We visited with a lovely woman & her chihuahua, Robert Henri (pronounced rho-bear, Ahn-ree)

On Wed, Thu & this morning, Lily was just in for observation during the start of the study. We received her 1st dose on Wednesday, mid-day. We don't know if it is placebo. We haven't noticed any huge changes in Lily, but she maybe just isn't titrated up to the appropriate dose yet.

Oh, and two days before we left, Lily got her DAFO's (orthotics). She's still trying to figure them out (and we haven't been great about working wiht her in them, given the road trip & hospital stay), but she looks wicked cute in them:


And a couple pictures of the roadtrip (and big-twin-brother, Hank):



My dad arrives tomorrow & Todd leaves on Sunday (boo hoo! We will miss him!). Lily doesn't have to be back at the hospital until Wednesday, and that admission is for only two nights. Hopefully we'll see some seizure improvement over the next few days, or if she's on placebo see some good improvement next week!

First Appointment with Dr. Bow Tie

So yesterday morning, we had our 1st appointment w/Dr. Bow Tie. He was rapidly inducted to the "family appointment" as my mom, dad & brother all joined Todd & I for the appointment.

I'm just going to do stream-of-consciousness style to update the visit, so this may jump around a bit.

Lily's EEG showed spike & wave activity plus modified hypsarrhythmia while sleeping. It's improved over her initial diagnosis (when she had hyps all the time), and it is good that she doesn't have the hyps while awake. But, of course we're going for seizure free & clear EEG.

The activity appears to be even across all hemispheres of the brain, and therefore he does not think surgery is an option. I would eventually still like to pursure a consult with Dr. Detroit to get his opinion. There are many, many stories of local neuros saying "not a surgical candidate" but then Dr. Detroit works his magic & does surgery & child becomes seizure free.

Dr. Bow Tie thinks that the skin/muscle biopsy is definitely a worthwhile test as apparently metabolic/mitochondrial disorders can also show hypometabolism on a PET (which is what Lily's showed). Of course, cortical dysplasia also shows as hypometabolism on a PET, so it could still be either. My gut tells me we're working with some sort of dysplasia as opposed to a metabolic/mito disorder, but then who knows? So, there isn't an urgency to get the surgery and/or 3T-MRI, so we can put that off a bit.

The biggest news, perhaps, is that we've added Prednisone back into the mix and lowered her Topamax. Dr. Bow Tie didn't even flinch when I said that I had backed off a bit on the top, and was very agreeable to lowering it to the level she was at when she had the 24-hr EEG (75mg 2x/day). In all, we've lowered the dose by about 45% which I'm pleased about. I've already seen a big improvement in her level of alertness this morning, and her playfulness. We started the prednisone this morning, and so far I don't think I've seen any spasms this mroning. We'll see how the afternoon goes, of course.

We also talked about Ganaxolone. We think that actually Lily won't qualify for the study because she's tried more than two AED's over the course of her treatment. So I'm going to email the director & ask about that, and if she does NOT qualify, I'm going to ask about "compassionate care". Compassionate care is apparently where someone who doesn't qualify for the study, but would sitll benefit from the drug, can appeal to the FDA to get an exemption & start the med. Hopefully I'll hear back from the director soon.

That's pretty much it. Oh, I guess if the prednisone doesn't work in controlling the spasms, and if we can't get Ganaxolone, the Keto Diet is our next move. Cameran's Mommy, Karen, posted a great description in Cam's blog of what their typical day on the diet is like, complete with diet menu. Starting the Keto Diet would be a HUGE committment, and very time consuming & tricky (with a brother who likes to "share" his food with Luh-leee), but if it helped control the spasms, we'll make it work.

New Trial Drug + Lily bloodwork

Late last week I was given a lead to the manufacturer of Ganaxolone, the med that Dr. Bow Tie wants to try with Lily. He's been working on getting a study at our hospital for Ganaxolone at least since Lily's 24-hr EEG. Well, the lead I got last week, from the owner of Infantile Spasms, was for the director of the clinical trials.

I emailed her yesterday to try & get Lily started on Ganaxolone from a different angle. She wasn't able to get Lily on the new med, but did provide a little more information about the study at our hospital than I've been able to get from Dr. Bow Tie. Basically, the study will be coming to our hospital, but not for about a couple months. In the mean time, if we wanted to start Lily on Ganaxolone, we'd have to transfer her care to Children's of Los Angeles & basically live in LA for two months as the study requires several 24-hour EEG's over a period of three weeks.

No, thank you.

So we'll wait until Seattle gets it.

Last week we had labs drawn for Lily after our surgery consult. I spoke w/the nurse today about the results. Everything, including all metabolic testing, is completely normal with two exceptions: Lily's RBC & WBC counts were a little low. The RBC's are only slightly low & they weren't concerned with that (just need to get Lily to eat more iron-rich foods). There was mild concern over the low WBC's. Apparently this can be a common side effect of AED's. Lily's level was 938 & they like to see 1500+. She (the nurse) was going to email Dr. Bow Tie about it. I told her that we have an appointment wiht him next Tuesday & to please call if we need to address it sooner.

The other piece to Lily's labs was that we checked her Topamax blood level. Therapeutic blood levels are 15-20. Last we checked, we were slightly above a 15, and we increased the dose a bit to really push the topamax to the fullest. Well, her level came back at 22.5. So, at a FULL load of topamax, she's still having 4-8 clusters of spams each day, so clearly that's not working for us.

So, next Tuesday we'll be discussing what, if anything, we do in the mean time before getting Ganaxolone, plus the WBC issue. The other biggie to discuss is whether Lily actually needs this skin/muscle biopsy surgery or not.

More info on that:
Basically, the ONLY test Lily hasn't had to find a specific cause of her spasms is the skin/muscle biopsy. This test is kind of the final step in ruling out a mitochondrial reason for the spasms. It involves taking a sample of muscle from the thigh (from a 1" incision), and a small sample of skin near the under arm (smaller than 1" incision).

At the same time, we'd also do a 3T-MRI which uses a bigger, stronger magnet to look for structural abnormalities in Lily's brain that would be the cause of her spasms (and potentially make her a surgical candidate).

ALL of Lily's labs & urinalysis have come back normal for metabolic/mitochondrial testing. The only thing indicating a mito disorder was when her 2nd MRI, about a year ago, showed signal changes in the deep tissue of her brain. We have since attributed this to a very rare (unpublished) side effect of the vigabatrin she was on at the time, weaned her off that drug, and the changes have resovled (thus, it was not a mito disease).

Since all of her labs have been normal, PLUS we have the PET scan which shows some evidence of coritcal displaysia (fancy name for structural abnormality in the brain), I'm feeling like putting Lily through a surgery isn't really necessary. Dr. Bow Tie is the expert at our hospital in mitochondrial disorders, so if he has very good reasoning for the test, I'll reconsider. But when Nurse Wonderful suggested the test (on his behalf), she indicated that he was himming & hawing about whether she really needed it. So if he wasn't convinced then, and now her newest round of labs is still normal, I'm gonna push back on that.

No sense subjecting Lily to surgery if it isn't 100% warranted.

For now, she continues to do well. She's had a rough 24 hours as far as seizures are concerned, but she's still playing & eating well. We had OT with Leah yesterday afternoon at Little Red Schoolhouse, and she did really well with taking toys out of containers (something we're working on with her). She had a longer attention span, despite having several clusters during therapy, than I've seen for a while.

The weather out here is simply glorious right now -- currently 67 & sunny. I think we'll play outside this afternoon.

Checking in

I've been horribly remiss in updating the blog, I'm sorry. It's been a busy month here!

Just a quick post before I run off to bed...Lily CRAWLED today, the furthest she's ever gone! She's pretty proficient in her "bear crawl", but we've been working with her a lot on regular, hands & knees crawling. Today she crawled all the way from Mimi (my mother in law) to me, kitty-corner from where she started, all on her hands & knees! It must've been 7 or 8 feet, which is BY FAR the furthest she's ever gone!

So proud of our Lily Bean!

We took a family trip to the Woodland Park Zoo for the first time a couple weeks ago, taking advantage of a wonderful Christmas gift from a dear friend. Lily enjoyed being outside in the fresh air, and especially enjoyed pulling up on the animal statues.


Tomorrow we have our surgical/anesthesia consult to discuss Lily's upcoming (yet to be scheduled) skin & muscle biopsy. More detail on that later. :)