Started Phase 2

Well, we're now 60 hours into Phase Two of the Ganaxolone trial. I should probably explain how this works.

The study is a double-blind, placebo controlled trial. The way it is set up is this:
The subject (Lily) is randomized into the control group, or the study group. The results of this are not known to anyone. During week one, the subject starts out on "Bottle A" of medication. This bottle could have Ganaxolone, or it could be placebo. This medication is titrated up to the full dose (meaning we start at a small dose, and slowly work up to full strength) over a couple days.

After a 24-hr EEG, Phase 2 begins. The subject remains on Bottle A, and Bottle B is added. Bottle B is titrated just like Bottle A was. At this point, ALL subjects in the study are getting Ganaxolone. You just don't know what bottle has the med. Some people get it starting with Bottle A. Others don't get it until Phase 2 with Bottle B.

So. At the end of Phase One, Lily was having a rough go of it. She was having tons of spasms, all through the day. I felt like she wasn't making as much eye contact or responding to her name as well (and since I'm the mom & around her most of the time, I get to make that call. :) ). And her EEG was a COMPLETE mess. NOTHING even remotely resembling normal. Tons of high volt spikes & waves, complete chaos. Total hypsarrhythmia (although Dr. LA called it only hyps while she was sleeping; looked like hyps to my untrained EEG reading eye).

This led me (and [my] dad, he was here this week) to believe hope that she was on placebo last week.

So, Lily started Bottle B (and continued on Bottle A, remember) on Wednesday afternoon. Since then, she has had drastically reduced clusters of spasms. In fact, I think since then she's only had six total clusters. Yesterday she had no spasms after 10:30am. She had one cluster this morning (15 spasms) after she woke up (which, all things considered, was to be expected because she got the nighttime dose early last night [at 6:00pm instead of 8:00pm] so we could be discharged from the hospital a little early). So she'd gone 14+ hours without a dose of the med. Then she had two small spasms when she woke up from her nap this afternoon, again when she was due for the next dose.

And I think (and dad concurs) that her eye contact & responsiveness is better.

So, this reinforces my thought hope that she was on placebo last week and is now getting the med.

(The worry is, of course, that she was getting Ganaxolone in Bottle A & it just didn't work for her. That's the risk you take with any epilepsy med; we just have/had high hopes for this one.)

We bump up to the highest dose of Bottle B tomorrow afternoon. The next few days should be telling. And of course, hopefully her EEG will be much clearer than it was last week. That sucked. A lot.

Dad leaves tomorrow (BOO!!!!), so the twins & I will be on our own for a few days. My mom is coming down on Wednesday with Very Good Friend Donna, and Toddy arrives back on Friday night. My 30th Birthday is Saturday and I think we're going to make the trek over to Disneyland. Fun times, and plenty of photo ops.

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!

Made it to LA!

We arrived in LA at about 6:00pm tonight. Checked into our apartment, and now I'm waiting for pizza to arrive (I'm STARVING, but couldn't order during Sopranos, natch).

The kids were ROCK STARS about the ride down. No melt-downs, whining, or other difficulties. Seriously, they could not have been better -- I'm so proud of them!

Tomorrow is grocery shopping/Target run, and a cursory drive to the hospital so we know where we're going on Tuesday.

Lily's admitted 1st thing on Tuesday morning.

More to come!

BIG news on the study!

Well, after hearing that the Ganaxolone study won't be at CHOS until July, it dawned on me that Lily might age out of the study before it even gets going up here (the age limit is 2, & her 2nd birhtday is July 8).

So, last week we started scrambling to get Lily into a study elsewhere. After much consideration, we decided to go to Los Angeles & get Lily in the study at Children's Hospital Los Angeles.

Our original plan was to leave on June 16, however the coordinator called this afternoon & they've changed their dates & want us there on TUESDAY. AKK! So we're leaving THIS Saturday (6/9, yes in three days!) for a month in Sunny Southern California!!!

Lily will have three hospital admissions; the first will be for three nights beginning on 6/12, the second for three nights on 6/19, and the third for one night on 7/2. We'll leave to come home on 7/4 or 7/5.

We'll be staying in short term housing in a 2 bedroom apartment a few miles from the hospital. We're driving down so that we'll have our own car (renting a car is expensive!). Todd will be with us for the first and last weeks, and we're working on who will be with me the 2nd week. The 3rd week we don't have any clinic visits/admissions so I could be alone if we can't find anyone else, but we're working on a few other options for some help for at least a few days.

We're so, so grateful to have this opportunity to get a medication for Lily that will hopefully be a really good fit for her. I have to say, my hopes are somewhat high that it will work for her. Of course, all those parents of IS kids know that "high hopes" is a relative term; getting hopes up too high doesn't ever really happen.

Wow. So much to do in the next 72 hours!!!

PS -- Lily's DAFO's will be here on Thursday when our PT comes!! I really think having some AFO's will help Lily's walking IMMENSELY!!

*sigh*

Just heard from our neuro...Ganaxolone study won't be starting until LATE June or early July.

So. Very. Frustrating.

More big news!

Lily Bean is WALKING!!!!!!!!!

She has taken up to five steps now, and gets more and more proficient at it every day! She pushes up to stand from sitting (to a squat then up to stand) and can stay balanced at standing for quite a long time now!

It's very, VERY exciting around here!

We're moved into our new house, and are trying very hard to get settled as quickly as possible (which actually is very slowly because it's just plain Hard with two two year olds!). It's wonderful living next door to my parents of course, and even better having so much extra space. Lily tolerated the move very well, but Mr. Hank had a hard time with it. Now that it's been a week things are back into a nice routine.

No news on the Ganaxolone front, or even on the neuro front. We had an appointment w/our neuro at the beginning of the month, but we decided (with his blessing) that it really was pointless for us to come in right now. We're in touch with him via email weekly, and really, until we get the Ganaxolone going, we're just in a holding pattern.

We have started giving Lily Acai juice daily, after reading about some folks who've had success with it on the Yahoo Infantile Spasms Group. We do believe it helps keep the number of spasms down. We aren't seizure free on it, but if we miss a day of juice, it seems the next day is worse w/seizures. Of course, this is all very unscientific but when you are a parent dealing with this every day, you get to be unscientific. :)

And, since starting the Acai and also since her walking is getting much better, we've seen a big return of her babbling. We're hearing lots of ba-ba-ba-ba and ma-ma-ma-ma and wa-wa-wa-wa. It's great! Language is obviously a good indicator of healthy neurologic development, so this is great for Lily.

We should be hearing about Ganaxolone in the next 10 days or so...hopefully we'll be starting it in a couple weeks! WOO!

Big News around here

I'm such a bad blogger. I'm so sorry for not updating more often.

Lots has happened since my last update!

When we left off, we'd started Prednisone again. It seems to slowly be helping. We've bumped the dose up twice, so she's now at 20mg/day (when she started at 10mg/day). We definitely see a difference in her appetite & disposition (she's a bit grumpier), but it's NOTHING like ACTH life. She gets benadryl at bedtime to help with sleeping, but naps are often a struggle.

Her spasms have definitely decreased in frequency. She often has days with only one or two clusters (instead of 7-10 clusters daily that we were at). We email w/Dr. Bow Tie weekly to check in & keep the pressure on about the Ganaxolone study.

Speaking of the study, it STILL isn't ready to go yet. It's very frustrating! There's a bunch of red tape they're trying to get through ("who will paaaaaay for the nurse to do blood draws???") internally at Children's, and they're waiting on Marinus's final approval as well. I gently nudge Dr. Bow Tie about it each week, and hope that one day soon we'll have a start date.

The other Big News is that we bought a new house!!! We bought the house next door to my mom & dad! WHEE!! It is going to be wonderful living next door to them! The house is bigger too, which will be great for all our crap. There is a rec-room in the basement which will double as our TV room & playroom for the kids. I'm so excited to have a bigger, dedicated area for kid stuff. At my twin club's rummage sale this weekend, I bought a kitchen for the kids! Hank loves to play with the one at our Toddler Group through Lily's early intervention. I also bought a little pint-sized picnic table for our deck off the dining room. I can't wait to make peanut butter & jelly for the kids & eat outside this summer.

We close on May 9 & will probably move the following weekend. We were fortunatley able to work out a great situation with my brother & he and his girlfriend are buying our current hosue from us! This allows us to stay in our house until we close, and not have to do any cleaning/staging to have it listed with an agent. We're also able to take our time packing & getting ready to go.

The biggest drawback to moving is that LIly has to change centers where she gets her birth-to-three services. We're moving into a different county (we live about 6 blocks north of the county line; our new house is about 6 blocks SOUTH of the county line, oy!), and therefore we have to switch early intervention centers for Lily. :( :( :( :( I"m so sad to be leaving Little Red!! THey've been SOO good to us, and I'll be very sad to leave all our therapists. The new center, Wonderland, seems like it'll be great, but it's still a hard switch. It seems like they'll offer a bit more flexibility in terms of what kinds of therapy to give to LIly & where. For instance, we can sign up fro a class in the community, or at our local pool & coordinate it with our therapist & they'll go to the class with us. That woudl work really well as it would give me 1-on-1 time with Hank, plus Lily would get services in the "natural environment" (thank you NCLB! Grumble, grumble). The offer a Toddler class, but unfortunately it's full right now. We're on a waiting list but since we're lookign for two openings (they also take typically developing kids), it could be a while.

The BIGGEST bummer is that Little REd offers a preschool for their students once they turn two. My kids were going to go to it in the fall. It's twice a week for two hours each time. Wonderland doesn't have anything like that, which totally bums me out. I'm going to look into a couple other Birth to Three programs in our county, specifically Boyer Clinic, and the Experimental Education Unit at the UW as well. Wonderland is TERRIBLY convenient though, only about 1/4 mile away from our new house. I don't know. It's hard. She's going to age out of Birth to Three in a year & will matriculate into the school district, so I don't know if I really want to get super involved in a program that services Seattle Schools. However, the EEU has classes for SN & Typical kids too, so that'd be good. I think there's a waiting list though...

I know it will all work out for the best, but it's making me very sad to think about saying goodbye to our wonderful therapists.

The other thing we've had done since my last update is we had our opthamologist appointment at the beginnign of the month. We were thrilled to learn that Lily has PERFECT eye sight!!! No problems, no concerns, nothing. There aren't many things that we hear doctors say are "normal" about Lily, so it was thrilling to hear the doctor say, "Lily's eyes are perfectly normal & she sees as well as other kids her age!" WHEE!!!!!!!!

I expect the next few weeks to be very busy with our preparations to move, but I hope to keep the blog updated as we trasnition from Little Red to Wonderland. Since EI is such a big part of our life & schedule, it'll be good to keep it updated here.

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.

I could be (am?) a neurologist

Since getting the results of Lily's labs last week, I've been pondering what I want to do wiht her care until the Ganaxolone arrives at Children's. I think I want to take her off of all meds, or at least decrease the meds to the lowest amount, and get a real, true baseline of where she's at. She's been on dozens of medications since she was diagnosed in November of 2005. THat's a year and a half of medications.

So, I took her Topamax down by 20% a couple days ago. I'll probably get my hands slapped by our neuro on Tuesday, but there is just NO SENSE in medicating her this heavily when it's not working. I'd like to take the drugs down & give her learining & alertness a chance to pick up.

I am a neurologist Mom, after all.

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.