Sunday, December 30, 2007

Christmas Images

Here are some highlights from our Christmas. Mira and Eli got to see Santa once again on Christmas Eve, getting out any last toy requests before the big day. Somehow, Santa looked a little different from the last time they saw him a few weeks ago at Mira's program, but who can tell. He brought gifts and cookies for all the kids. The week flew by too quickly, but we were able to spend lots of time with the Floras and grandma.

Anyway, the images above include the Christmas photo we sent out, Mira and Eli each with Santa on Christmas Eve, the kids at Union Station to see the trains, Eli, Addy, and Truman horsing around in the pack-n-play, and the three amigos watching TV.

Last but not least, Eli got a tiny bit of a raw deal for Christmas. Sarah frantically searched for 'old-school' G.I. Joe action figures and an army jeep, finally outbidding someone on EBay the week before Christmas. Only, the shipment didn't make it in time and Eli had to settle for a late delivery from Santa a few days later.

Sunday, December 23, 2007

A Non-Stop Week

This week, as all pre-Christmas onslaught weeks are, was crazy. We hit the ground running earlier in the week with Eli's Christmas program all the way to today, when we were trying to get in some last minute shopping with 25,000 other frantic people all lobbying for what is left on the shelves, which isn't much. From the grocery store to the department store - it was all crowded, as expected. We survived.

Mira has been doing extremely well over the past week, with the exception of today. She has some diaper rash that is bothering her, but other than that, she has been doing great. Her sleep has been decent over the past few nights too. She is still getting up at 4:00am, but able to put herself back to sleep soon after.

We haven't seen any negative effects from stopping the Zonegran, as of yet. It's one less medication to deal with and keep out of her system, so good riddance. Mira has also had the pleasure over the past week to get some variety in her diet, having beef stew a couple nights. She loved it! Since we are slowly weaning her off of the diet, we have been adding different vegetables into her meals, as well as offering her oatmeal and yogurt in the morning, which is hit or miss. She doesn't seem to be too keen on breakfast these days, but I think she is enjoying a change of pace with meals regardless.

And of course, the great news is that Mira continues to be seizure free. Tomorrow will be 50 days of being seizure free! We hope that everyone has a Merry Christmas and I will post pictures mid-week!

Saturday, December 15, 2007

No More Zonegran

After 8 months, today was Mira's last day on Zonegran. As with all medication weans, we are anticipating some potential changes over the next few weeks. You never know how she is going to react when she is ramping up or coming off a medication. We have been weaning her for two weeks, so her last dosage today was only 25mg, which is a very low dosage for her weight. It usually takes another few weeks for her system to completely flush it out.

One of the changes as of late is her sleep. She tends to get up in the middle of the night (last night it was 2am) and stays up for hours. She isn't really doing much during this time, although I know she is awake because I can hear her babbling through the monitor or just kicking around in her crib. She usually does this for an hour or more, then starts to get really tired and irritable for a few minutes. I end up giving her a bottle and she goes back to sleep, but by this time, it's 5am and more often than not, Eli decides that this would be a good time to get up. Mira then sleeps until 7:30am, then takes long power naps throughout the day. Sleep patterns are pretty screwy around here lately. We are taking it all in stride and thankful that she is still seizure free.

Thursday, December 13, 2007

Partial Results

Thanks for all of the suggestions for trying to clear up Mira's rash. We have taken several steps over the past week and it has cleared up significantly. As I posted earlier, we have tried multiple ointments and antibiotics, using a pretty potent anti-fungal/antibiotic cream on it over the months, which has helped a little. What has really helped though, is keeping her face dry. We change out her sheets every night, using a fresh towel as an 'added layer of protection' over the bed sheet. (Yes, I am beginning to sound like a bad diaper commercial.) We also started lathering her hands up with lotion, which not only helps her hands heal, but keeps her from sticking her hands in her mouth every 20 seconds. I don't think she likes the taste all that much after a while.

Mira's genetic screen for Rett Syndrome (the MECP2 typical variant) came back clean, meaning she didn't have any mutations on the MECP2 gene. A mutation occurs in about 85% of the typical cases of the MECP2 screening process. What they are now searching for are MECP2 deletion(s) on this gene. I don't quite understand how the process of recognizing a mutation versus a deletion occurs or why they have to be performed separately. I guess that's why I'm an architect and not a geneticist. We should get the results back on the deletions in another 2 weeks.

Thanks to Dad and Dottie for the Christmas flowers - they are wonderful! Eli has been eyeing the candy canes all day too..............

Friday, December 7, 2007

Rash Be Gone!

Mira continues to do very well at home and in therapy. She is focusing and scanning the room much more lately. She also has been thrusting her tongue out a lot, as though she is spitting and making some silly faces on occasion. We have been able to get some really good giggles out of her by tickling her in just the right spot on her rib cage. laughing until she gets the hiccups. She can't seem to sit still any more when she is on your lap, constantly squirming and wanting to move.

She has been battling a rash on her face for nearly the entire year and it just won't heal. We have tried lotions, antibiotic creams, ultra-strength antibiotic creams, but it continues to linger. We recently discovered that it is a yeast infection, that started on her cheeks, but since she is now constantly putting her hands in her mouth, it has spread to the back of her hands and fingers. For yeast infections, it is supposed to dry out to get rid of it, which is nearly impossible since she is constantly drooling and and messing with her hands. Any suggestions would be great!

I received an email from Mira's neurologist and he said we should expect the Rett's testing back sometime next week from the lab. Thanks to everyone for your continued thoughts, prayers, and support.

Tuesday, December 4, 2007

One Month Seizure Free!

Today officially marks Mira being seizure free for an entire month! Her last seizure was on November 4th. Way to go Mira!

Saturday, December 1, 2007

Holiday Program + Neurologist Visit

Mira had her annual holiday music program, sponsored by the Lee Anne Britain Center last night. Her class performed 'Jingle Bell Rock'. Despite being in a pretty cranky mood most of the evening, Mira managed to do well once up on stage with one of her therapists. I think all she really wanted to do was catch up on some sleep. Neither Mira or Eli were at all interested in having their picture taken - so it of squirming and weird faces was the best we could muster out of the kids last night.

Eli became really excited once he saw Santa make his grand entrance at the end of the program. He was pretty direct with Santa and requested "Transformers" and an "Army Doll." Eli seems to be all about 'armies' these days, drawing pictures at school, telling his teachers all about them, etc., etc. If you would've asked him, "armies" were what he was the most thankful for this thanksgiving.

Earlier today, Mira had her neurology visit, which we had on the books for a month or so. We talked a little about her EEG, which although improved from her all her previous EEGs, is still abnormal. Her neurologist couldn't elaborate on it any more than that - there wasn't anything revealing in the EEG that would offer any clues or further insight.

As with every neurology appointment lately, we seem to walk in with certain expectations and questions, and 90 minutes later, we walk out feeling spun 180 degrees. Sarah and I had decided that we wanted to eliminate unnecessary medications and diets that we felt aren't working for Mira and just stick with what is helping, which we feel is the Lyrica. Therefore, we have decided to first wean the Zonegran which will take about the next two weeks. We'll give her the rest of December without any changes and then around the beginning of January, we'll begin weaning her off of the MAD (Modified Atkins Diet).

We feel that neither is doing anything - Mira continued to have daily seizures while doing both, with her seizure activity spiking badly during October. Things actually became worse. She has been on the Zonegran for over eight months and there was no positive change during that time either. As far as the diet goes, we essentially have already boosted her carbohydrate count by giving her applesauce throughout the day, so far we haven't seen any adverse affects from this boost seizure-wise. She is up from 10 grams to probably around 20 grams daily at this point. For Mira, we feel the diet is not nutritionally adequate, causes bad constipation, high cholesterol, and can be hard on her stomach. It is not healthy for kids to be on it long term. By gradually tapering these two therapies off individually, we can determine what is helping and eliminate what is not. Her neurologist agreed, thus our plan of action is in place for the next month or so.

What really threw us for a loop this particular appointment stemmed from the video I had sent her neurologist just before Thanksgiving. During her first couple of seizure-free weeks Mira had some strange, somewhat repetitive movements and breathing patterns. I videotaped her, posted it on Youtube and sent him a link. He reviewed it and it triggered some ideas for him, one of which was Rett's Syndrome. Some of the movements were apparently reminiscent of past Rett's cases he has seen in some of his patients. Mira had already gone through a round of genetics testing soon after her seizures started (in December 2005 I believe) and they came up with nothing in regards to Rett's.

As it turns out, Mira was only tested for the atypical mutation of the CDKL2 gene (5% of Rett's cases) and not the MECP2 gene (95% of cases). The reason testing the atypical route was based on the symptoms she was presenting at the time, but now, based on other criteria, she fits more of the characteristics of typical Rett's cases. So, CMH is scanning her DNA and seeing if they can find a mutation of the MECP2 gene to see if she has Rett's. We went through a very similar and emotional scenario several months ago, when her neurologist suspected she might have Angelman's Syndrome, although she lacked some of the facial features evident in most kids with AS. Rett's, as with Angelman's is pretty cut and clear - she either has it or she doesn't. We expect to get the results back in a few weeks.

The great news is that Mira continues to be seizure free, nearing the one month mark on Tuesday!