Sunday, December 30, 2007
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
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
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
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
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
Saturday, December 1, 2007
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!
Monday, November 26, 2007
Sunday, November 25, 2007
Mira was mildly cranky on Thanksgiving Day - why we don't really know. She was pretty irritable during the afternoon and couldn't seem to settle down for most of the day. That was also the last day she ate a decent meal. Friday and Saturday she wouldn't eat anything all day, gagging on some pudding both nights, scattering the hardwoods with her upset stomach. We don't know whether she has a stomach bug, is bored with the food, or just isn't hungry, but she has eaten very little over the past 3 days. She is drinking plenty of fluids and doesn't have a fever, so we aren't real concerned at this point. We were able to get her to take a few spoonfuls of applesauce today, without gagging or vomiting - always a bonus when there is nothing to clean up.
Speaking of cleaning up...........I have officially met my quota of cleaning up bodily fluids for the next 6-8 weeks. Friday night - lots of vomit, soaking her high chair. Saturday night - repeat of Friday night, this time thoroughly drenching her Kidcart. Tonight - overflowing diaper (not the 'clear' stuff mind you) - staining her recently cleaned and disinfected high chair, again, along with the bed, the floor, and of course, her clothes.
On a positive note, she is still seizure free and still in a good mood! We have her neurologist appointment on Friday around lunch, along with her Christmas program on Friday evening.
Wednesday, November 21, 2007
We did get a brief message back from her neurologist this afternoon and he noted the following: 'Her EEG is improved, although still abnormal. The movements and activity noted on the EEG are in fact not seizures or seizure activity.' This is very good news overall! We are going to get into a more in-depth discussion during Mira's standing appointment with her neurologist next Friday.
On a side note - it was great to see my sister and family yesterday evening in from Colorado, who graciously treated us to pizza -thanks so much! We hope to come out and visit soon. Hope everyone has a wonderful Thanksgiving!
Saturday, November 17, 2007
Monday, November 12, 2007
She only got up twice last night, which is a big improvement from over the weekend. Things are going well for her and we are hoping and praying that it continues!
Saturday, November 10, 2007
On the negative side, she has been having difficulty sleeping again. She has been waking up periodically throughout the night, crying as if in pain. This morning she got up at 4:00am and was inconsolable for a while. Her sleep patterns have been getting thrown off and she has been taking long naps in the afternoon, which is a recent phenomenon for her. I theorize that the sleeping issues are neurological, since her crying out seems to happen at night or when she is extremely tired. Coincidentally, that is prime time for kids to have seizures - when they are falling asleep and when they are waking up.
We do have her scheduled for an EEG on the Tuesday before Thanksgiving and a neurology appointment at the end of the month. She has not had an EEG for almost a year.
Tuesday, November 6, 2007
Once again, she got a REALLY big kick out of 'The Bunz' this evening, making some strange laughing noises which I have never heard before. She became very animated and excited as soon as I pulled the string!
Sunday night Sarah and I attended the 26th Annual Tiny Tim, a formal fundraiser for the Lee Ann Britain Development Center (also called the IDC) where Mira gets many of her therapies. It was amazing to see the turnout and generosity from so many people giving to such a great cause.
Thursday, November 1, 2007
Wednesday, October 31, 2007
Otherwise, she has been doing very well, even rebounding very quickly from her stomach issues both times. We did see a few breakthrough seizures yesterday, but none today. She has still been in a great mood and is doing well in therapy during the day.
Monday, October 29, 2007
Sunday, October 28, 2007
I had a few additional pictures from last weekend from the train ride and Maple Leaf Festival and a couple from this weekend's pumpkin patch excursion, just outside of Lawrence. The weather could not have been better, but unfortunately, the pumpkin selection was pretty lean. We managed to get a few decent ones (see Eli sitting on his prize possession above left). Mira also had a good time, enjoying the bumpy stroller ride through the pumpkin fields. Since we were so close to Lawrence, we had to make a pit stop at La Familia for lunch. The sweet salsa is so good, it's almost drinkable. By the time we got home, everyone was sleeping, including Mira, who couldn't muster the energy to play with her pink sponge ball.
Mira started a low dosage (25mg) of Lyrica on Thursday and has been tolerating it very well. On Friday she had 2 intense seizures, but hasn't had one since, which is always promising. She will go up to 50mg on Tuesday and then we will see if she is still tolerating it. The therapeutic dosage for Lyrica can vary, so assuming it is helping, she will probably just hold at 50mg for a while.
Thursday, October 25, 2007
Tuesday, October 23, 2007
We went to the Maple Leaf Festival in Baldwin City (after Mira's session) on Saturday and had a great time and enjoyed some fantastic fall weather. We rode the train from the old depot, while Eli tried to verbally apprehend several of the 'bandits' (a staged robbery skit/re-enactment they do on the train) by simply scowling loudly at them. It didn't work, but it was convincing.
Unfortunately, Mira has been doing pretty poorly over the past week, having multiple seizures every day, especially over the weekend, when she had a dozen or so. Her seizures have gradually become worse over the past several weeks and we are often seeing clusters of activity. She has become more irritable as well and they are really bothering her much more than before.
We talked to her neurologist about starting Lyrica (pregabalin) which is one of the few medications she hasn't tried, to see if it will help. As with all of the other medications, it either works or it doesn't. We had talked about increasing her Zonegran (she is already on a maximum dosage) or just taking her off of it (could potentially make things worse) so in the end, we decided to try Lyrica and not have any other moving targets at this point.
Friday, October 19, 2007
Tomorrow we are going to meet with a therapist to potentially start hippotherapy with Mira every week.
Wednesday, October 17, 2007
In addition to causing irritability issues, the Ketocal was also causing a lot of constipation, which stresses her out. We stopped the Ketocal yesterday and gave her several doses of Miralax over the past day and a half and she has been doing remarkably better than she was yesterday. She still had 2 seizures, but she is in a much better mood and stopped twitching. And yes, she pooped A TON today. If you want details, Sarah and I can provide.
Regardless of whether aspartame is a trigger or not, we are going to stay clear of it (along with other artificial sweeteners) all together and talk to neurology and her dietitian about alternative methods of boosting her ketones.
Saturday, October 13, 2007
Mira has also been vomiting some this week. She had an episode on Thursday night and again this morning, as I was posting this, ironically. It might be that she is becoming more ketotic, which tends to mark an increase in nausea, vomiting, and/or diarrhea. Sorry, Mira's diet topics are typically not a conversation to have over dinner.
Speaking of ketosis, we are still working with insurance to move forward on the Ketocal, but have been having difficulty pushing the paperwork through thus far. It is moving along, though.
Monday, October 8, 2007
Since last Tuesday, she has only had 3 seizures (in 6 days!), which is fantastic. We think the Keotcal boost has really been helping her, so we stocked up for the next few weeks. We should be getting our first shipment tomorrow. We had to make a run to Children's Mercy this afternoon for another can, just to get us by for the day. Although Mira is only supplementing, we will be going through a can every 5 days, which equates to over $2000 a year, just in Ketocal alone. Thanks to Sat Inder, Karta Purkh, and Auntie G. for contributing to Mira's Ketocal fund!
On a side note, Sarah and I celebrated Sarah turning 29 (for the 4th year in a row.....) at 40 Sardines. We decided to skip our usual favorite locale, Le Fou Frog and try something new. I can't say that I was all that impressed with our choice, which is disappointing, since I had heard rave reviews about the joint. Could have been an off night I suppose. After all, it was 'opera' night at the restaurant and I did win a CD out of the deal by Anna Netrebko. It would be great if I actually listened to opera and could pronounce her name, but I cannot do either. Oh well, guess I'll stick with Thievery Corporation.
Anyway, thanks to Auntie Aura who braved our evening out by watching all four kids!
Wednesday, October 3, 2007
We didn't want to be too concerned at first, as her breathing wasn't labored and she didn't seem to be in any pain. Although she had been quite distressed after each tonic-clonic ("big") seizure she was really zoned out from the start of this "episode." It became apparent to Sarah after a few minutes that she was having clusters of activity and was staring off repeatedly, tensing her arms and legs over and over.
We called neurology to get a hold of Mira's nurse to try and understand if this was a prolonged seizure or if she was going into status or what. I had left work early and was headed to CMH at that point to pick up Mira's Keotcal and was able to discuss her situation directly with our neurology nurse, Lynn. She told me that it sounded like a status seizure of some sort and recommended administering Diastat regardless, which we have as a rescue/emergency medication. Sarah gave it to her as I was leaving the hospital and her clusters and squeezing stopped almost instantly. This episode went on for about an hour and 15 minutes total.
Needless to say, we have never seen this sort of seizure activity with her before. If there is one thing that is consistent with Mira is that her seizures are inconsistent. Different types, different times, ever changing patterns. We were watching her like a hawk today and ironically, she didn't have a single seizure or episode all day.
Saturday, September 29, 2007
We did get her Jenx Monkey Stander last week and she has been using it for PT at home. She broke it in the first day by throwing up on it! Probably not a good idea to get her in it right after breakfast........
Friday, September 21, 2007
Mira has been doing well over the past week. She is still averaging about a seizure or two a day, but has really been in a good mood all week. She seems to be handling the tweaks with the diet, especially the MCT oil. We are gradually increasing her intake to get to 1 oz. daily. She has been off of the Lamictal completely for a week and we haven't noticed any negative changes yet. We will start weaning the Zonegran very soon.
We all had a great time in Saint Louis last weekend and especially at Siena's (Mira's cousin) birthday party. Thanks to Tom and Nikki for the animal farm fun!
Thursday, September 13, 2007
Today, though, she had a great day and was smiling and laughing some. Eli, Mira, and I went for a walk she was staring up at the trees and was giggling some. She even decided to belt out an unprovoked belly laugh during dinner time. Didn't think my cooking was that bad...........
We are heading to Saint Louis for the weekend for Siena's (Mira's cousin) 1st birthday party - can't wait to see everyone!
Saturday, September 8, 2007
The good news is that her cholesterol and her lipid levels came down, not to within a normal range, but they are certainly lower, which is great. Also, her alkaline phosphatase level is still normal, leading us to believe that her off-the-chart lab from early August was a fluke.
The bad news is that her beta-hydroxybutyrate level (measurement of ketosis in a sense) is still low, meaning she isn't burning enough ketones to put her into adequate ketosis. Therefore, our dietitian recommended adding a certain percentage of MCT oil to her diet. MCT can be hard on the stomach, so we will go slowly with it.
In the meantime, we started weaning Lamictal, and she should be off of it completely in about two weeks. We haven't noticed any difference yet, but it is early in the game. Five out of the last six days, she has only had one seizure per day. This is promising news so far with the diet, considering she was having 5 or 6 a day a month ago.
Monday, September 3, 2007
We started doing some tweaks to Mira's diet over the weekend and we think it is starting to show. First, we eliminated all of the flavored waters and Atkins shakes she has been having. We found that most of the prepackaged and store bought drinks have lots of additives in them, which can mess with her state of ketosis and make the diet less effective. Instead of the shakes, we now make our own, with Stevia (all natural no-carb sweetener) heavy cream, and all-natural flavoring through Bickford Flavorings. Sounds disgusting, but it is actually good. Sarah disagrees, calling the shakes 'bizarro-juice'. It's about as natural, carb-free, sugar-free, and simple as you can get and it will have a minimal effect on Mira's ketones.
It is extremely difficult to find flavors for drinks that don't either have alcohol, glycol, corn syrup, or some other bizarre additives I cannot pronounce. Most parents who try their kids on the Ketogenic Diet or the Modified Atkins Diet swear by the Stevia and/or Bickford add-ins for flavors and sweetening.
We also created a very strict schedule of ingredients and measurements for all of her meals and have really been calculating her carb intake. Since these tweaks over the weekend, she has been doing pretty well, only having one seizure Sunday and one today. Last night, she slept for 12 hours straight too.
Friday, August 31, 2007
First, Mira's Biotinidase Deficiency labs, drawn from July 2006 (I can't seem to get my dates right - thinking it was May 2006) were normal. I really just wanted to make absolutely positive that we had not overlooked something so easily treatable.
Second, our neuro gave me a briefing on MTHFR and basically said that based on her labs, the likelihood of her having some sort of connection to such a genetic issue would be slim and none. I ask dumb questions because I am not a neurologist; nonetheless, it doesn't hurt to ask.
Basically, we are going to do some minor tweaking with the diet and continue with it. We are also going to start weaning her off of Lamictal. Our neuro said there is no reason to continue ineffective medications, so the less the better. We will wean her off of that first, then look at weaning Zonegran. Perhaps once she is off those medications, we will see how effective the diet is and just take it day by day. We area also considering Vigabatrin again, but we will cross that bridge when we get to it.
After an exhausting day, we met up with friends at Avelluto's for a carb-fest-romper-room dinner. Seven kids, seven adults and none of the mess to clean up. Thanks Avelluto's!
On a side note, Questcor Pharmaceuticals, the manufacturer of ACTH (which is the first line of defense against IS and used for MS as well) announced this week that they have decided to raise the price of a vial of ACTH from $1,000 to over $23,000 in an effort to stay 'profitable'. This absolutely makes my stomach turn. For so many children and families, ACTH is the first line of defense and often the only medication that helps combat Infantile Spasms. It now has been put completely out of reach for most families without insurance. Mira did ACTH and had we not had insurance, her 4 week trial would have cost us around $5,000 for the medication alone. It will now cost over $100,000 for a child to go through a typical round of ACTH.
I will end my soapbox on this: something has run completely out of control in our health care system so much so that it is just surreal to me. The cost of medications, therapies, testing, and hospital visits for Mira would have bankrupted us in about 15 minutes. Praise to God we have good insurance. We now worry only about lifetime caps. It saddens me to hear so many families on the I.S. message boards wondering if they can afford to treat their child or what alternative(s) they might have to pursue to get help, both medical and financial. It seems the new corporate pharmaceutical motto is: 'how much are you willing to pay for something that might save your life - in other words, how much is your life worth to us?' It truly sickens me how bad it has become.
Thursday, August 30, 2007
I have been trying to get Mira's results from a Biotinidase Deficiency (BD) screen she had in May of 2006 and to get our neurologist's thoughts on Methylenetetrahydrofolate Reductase (MTHFR) which is a genetic defect that causes the body to not properly process folic acid. I am bringing up the results from her past BD screen to make sure that the proper test was performed and to discuss the results with a metabolic geneticist I have been corresponding with in Detroit. At the time of the test, Mira was on multiple medications and we were in the process of switching neurologists. Both deficiencies are sort of long-shots in terms of Mira's condition, but fairly easy to detect and diagnose through screening. Missouri happens to be one of the few states that doesn't perform newborn screening for BD. MTHFR is detected through genetic testing. Some of her past labs might some insight into potential folic acid issues.
We are planning on also discussing medications and give neurology an update on how the diet is going. Mira did have some decent days (her 1 seizure-free day) and a couple days where we have only seen one seizure per day. Better than a few weeks ago!
Saturday, August 25, 2007
On another positive note, the seating company dropped off her Manatee bath seat today and it was like a dream. The chair was donated to the company and is brand new. It is adjustable, flexible, lightweight, and can grow with her. I was so happy to throw away her broken down baby 'sling' tub, that was five sizes to small for her. She was so much more relaxed in the Manatee and bath time was a breeze tonight. No more back pain and hunching over for Daddy!!!
Wednesday, August 22, 2007
Her days over the past week are hit or miss. Some days she does pretty well and even laughs on occasion if Sarah tickles her in the right spot. Other days, she is irritable all day, perfecting her LGF (Low Grade Fuss) and nothing seems to help her. Good days 2 seizures; bad days 7 or 8 seizures.
We added 300mcg of B12 and 400mcg of folic acid to her diet, since many AEDs (anti-epileptic medications) tend to deplete these vitamins in the system.
On a side note, Sarah and I escaped to a concert on Monday night, seeing Crowded House at the Uptown Theatre here in KC. We haven't been to a concert since Richard Thompson, which was 5 years ago. It was surprising to hear Neil Finn and company really 'rock out' - some of their newer material drifted off into some harder edge stuff that I wasn't expecting. Liam Finn (Neil's son) was one of the opening acts. His son?! Yes, they are getting old.
On another side note, what makes my day is visiting Sarah's new favorite site here. Cats are funny.
Friday, August 17, 2007
Now that we have her on the Modified Atkins and need to use it potentially as a supplement to her diet, we are trying to get Mira's neurologist to write a letter of medical necessity to our insurance company. Since she won't be on it exclusively, we shouldn't be going through it like we do with say, sour cream (lately), but it still doesn't really make sense to me that insurance companies view Ketocal as the equivalent of SlimFast.
Anyway, Mira had a really rough day today, have a half-dozen seizures or so. She was pretty irritable all day and wouldn't eat much. We think her stomach has been bothering her. Tomorrow is another day.......
Monday, August 13, 2007
One of our trouble spots with the diet thus far also has been getting Mira to drink enough fluids, so we will be supplementing her fluid intake with Ketocal. We are going to start preparing meals in advance, more within the 4:1 ratio of classic Ketogenic Diet, the difference being in that she can eat as much as she wants, so long as it is within the ratio and/or the 10 gram limit.
There will be a considerable amount of tweaking with the diet over the coming weeks.
Wednesday, August 8, 2007
So, we are going to continue with the diet for a while and see where it takes us. We will also continue the B6 indefinitely.
On a side note, we were sad to hear that Dr. Graf's nurse, Jana, is leaving neurology and going to another department within the CMH system. She has been a tremendous help over the past 2 years with Mira and we will miss her. Fortunately, she will still be at the hospital, so we can always stop in for a visit at her new home in rheumatology.
Thursday, August 2, 2007
We are going start keeping a 'food diary' in order to monitor and calculate exactly how many carbs Mira is getting everyday and will adhere to the diet strictly for the next three or four days. On Monday, she will go through a 4-hour fasting period, then get updated labs drawn at CMH before lunch.
In the meantime, we are going to increase her B6 to 300mg (30mg/kg) and may increase it to 500mg (50mg/kg) daily over the next few weeks. The 'pyridoxine factor' hasn't really been ruled out yet and I think that a trial of B6 shouldn't interfere with any of her current diet issues. As with all of the other medications, it either works or it doesn't, only pyridoxine is non-toxic and safe, with minimal side effects. It is the only obvious effective treatment for kids with B6 deficiencies/dependencies.
We ultimately hope to get her off of the ineffective Lamictal and Zonegran, but are trying to keep the variables and moving targets to a minimum for now.
Monday, July 23, 2007
We decided that waiting another month and putting her back on her regular foods (very carb heavy) is just a waste of time. We would rather not continue down the path of ineffective medications for yet another month or more, while waiting for her cholesterol levels to (ideally) come down. We feel that we can hopefully counteract some of the levels with the Omega 3, while also drastically cutting back on her daily cholesterol intake.
We have a standing appointment with Mira's pediatrician in a couple weeks and with neurology at the end of August. We are also trying to get into seeing a metabolic geneticist and the endocrinologist, which might take a month or so.
Friday, July 20, 2007
Wednesday, July 18, 2007
Irony Factor No. 1: her beta-hydroxybutyrate (BHB) level, which basically is a measurement of her level of ketosis (which is what the Ketogenic Diet and/or Modified Atkins Diet is supposed to induce) was high, but still within normal range. This means that she really wasn't even in ketosis and thus benefiting from the 'true diet' during all of this. Diet wise we have been slowly moving toward the diet (cutting out most of her carb/sugar intake) over the past few weeks, but not quite fully into it.
Irony Factor No. 2: Mira had about a dozen seizures last Friday, then a half-dozen on Saturday, then 2 on Sunday, then 1 on Monday, then 2 on Tuesday, and NONE today! She has had her usual jerks and twitches, but no full-fledged seizures.
So, where are we now with all of this? We are putting her back on her normal routine and regular foods (carbohydrates, here we come!) and we will be putting her back on the Coromega 3 Fatty Acid Supplements (yummy fish oil - good for the heart, brain, and of course, cholesterol levels) for a month and have her levels and labs redone at that time. Mira will remain at her current theraputic Lamictal and Zonegran levels as well. Neurology, her dietitian, Sarah nor I feel comfortable at this point putting her on any kind of high fat (etc) diet until Mira's cholesterol and other levels are down within a reasonable range. Meanwhile we'll be looking into possibly chatting with the Metabolic Geneticist at CMH and/or a Pediatric Endocrinologist. Maybe a fresh set of eyes will help us understand Mira's strange lab results more fully.
Wednesday, July 11, 2007
The process of starting her on the diet is fairly easy, unlike the Ketogenic Diet. Again, there is no hospitalization, no fasting period, and no fluid intake (or calorie) restriction, unlike the Ketogenic. She will have to be monitored twice daily with a glucometer one that will also measure her ketones, to ensure that she is in ketosis. She also had to have multiple labs (done this morning at CMH) to get baselines, including an EKG. We will be really watching her weight as well.
The 'typical' Atkins allowance for daily carbohydrate intake is 20 grams. Mira will be at 10 grams or less. We have been slowly weaning her off of carbohydrates over the past few weeks, yet she isn't quite down near the 10 gram limit yet. Unlike the traditional Atkins Diet, the goal is to NOT lose weight, but rather to keep her in ketosis. Therefore, she will be eating foods that are high in fat and calories, including cream, butter, eggs, and getting lots of protein from meat, fish, chicken, etc. to keep her calorie intake up.
The plan is to try the diet for at least three or four months. If it is successful, we can hopefully start reducing her medications. The ultimate goal on the diet is to of course get her seizures under control (or least reduce them) and in an ideal world, we could eliminate (or reduce) her medications soon thereafter. We are supposed to get her labs back toward the end of the week, to make sure there aren't any potential complications in starting the diet.
So far, everything is looking good.
Thursday, July 5, 2007
Yesterday, we all made the trek (dare I call it a 'trek' when it is seven blocks from our house) to Villagefest - Prairie Village's 4th of July celebration. The only way to summarize the day - very, very humid. We all had a great time, despite the heat and were able to enjoy the pancake breakfast, see the Chinook helicopter land, and see the Marching Cobras! The Cobras rock! Sluggerrrr was able to meet up with Eli for a rematch after their duel at Kaufman a few weeks ago. This round went to Sluggerrr (see pic below).
Thursday, June 28, 2007
Kudos to Sarah, for all of her hard work on the awesome invitations (a plug for her stamping blog http://sukisansblog.blogspot.com/) and coordination of the festivities for the party. I told her she was taking the 'circus' theme too far when she mentioned the dozen scary clowns* - she assured me that she would cut it down to no less than six.
I will post pictures after the party!
(*Disclaimer: No clowns will actually attend Mira's party. Please do not plan to attend the party and expect to be entertained by the aforementioned number of clowns, associated circus animals, or flamethrowers. When you really think about it, all clowns are scary and no one needs to be frightened by one clown, let alone a half-dozen. See complete rules for details or just look at the image below of Sarah with clown at age one.)
Sunday, June 24, 2007
Basically what he told me is that based on the methylation test (one of the four that I mentioned in an earlier post) and the characteristics of what they discovered, it is highly unlikely that Mira has Angelman's Syndrome. Some of the other test are duplicate efforts somewhat, meaning they identify different characteristics of the chromosome mutation/deletion in different tests, but they essentially identify the same thing. While this is somewhat of a relief, we feel as though we have been run through an emotional decathlon of 'what if' scenarios over the past month and are completely exhausted from all of this. We will not be doing any additional testing for anything at this point.
Mira is still day to day. Saturday she had a rough day, lots of seizures and very irritable all day. Today was a great day for her - lots of smiling, good eye tracking, minimal seizures. It is a roller coaster for her to say the least.
Thursday, June 21, 2007
The recommendation was for a KidCart, which is a sort of high-tech stroller. It's a piece of equipment that will offer her a lot of flexibility, mobility and is something that she can grow with over the next few years. It has two bases. One that is like a stroller ... for going out and about; the other is called the "High/Low Base" and is for inside the home. With the latter base we can have Mira at the table with us at meal time or alternately she can be closer to the floor during therapy or playtime. We also are hoping for a stander (one of Mira's current strengths is her willingness to bear weight through her legs) and an adjustable bath seat as well. She has been trying out the stander during PT and has been doing pretty well, although needs to grow about another inch to fully fit into it. I think we are going to hit our insurance cap with the KidCart right off the bat, since they will cost at least $4,100! There are some not-for-profit organizations that we are looking into to help us pick up the remainder of what insurance won't cover.
It should take about 6 -8 weeks for the paperwork to go through fully but we should be hearing something through the seating specialist about our insurance within a month or so. The irony is that going through the Seating Clinic at Mercy is supposedly the "streamlined" way to get this kind of equipment.
Monday, June 18, 2007
Things have been moving right along over the past week or so. Mira has gotten past the hump on the Lamictal, hitting her tenth week. Last Wednesday she went from 20mg daily, to 30mg this week, then to 50mg this Wednesday, for two weeks. She then finally reaches a therapeutic dosage at 75mg, which is where she will stay, if all goes well. She has been tolerating it well so far. We have been seeing some improvement in terms of her seizures - we still see the same frequency, although they they are not nearly as intense as before. Her breathing has not been nearly as labored during and after a seizure. Any improvement is good.
We are still moving through with additional testing on Angelman's, only it is slow going in discussing it with neurology. We plan to talk this week on what to do next.
On a side note, Sarah and I celebrated our 7th wedding anniversary on Saturday, gorging on delicacies that the sea has to offer - mussels, monk fish, and scallops, compliments of Le Fou Frog. We were even able to sneak in a movie afterwards and saw 'Once', which I highly recommend.
Saturday, June 9, 2007
I did want to give everyone an update on what has been going on with some additional testing that Mira has been going through. At our last neurology appointment about a month ago, we were told that Mira fits much of the profile for Angelman's Syndrome (AS). It basically is an abnormality and/or deletion of chromosome 15. Rather than go into a lengthy discussion regarding what, how and why, Angelman's is best explained through the website http://www.angelman.org. The occurrence is about 1 in 20,000. Mira went through a round of genetics over a year ago and was not tested for AS, keeping in mind, that many of the characteristics are difficult to see until the age of 2 or older.
Mira has gone through one of four tests, which came back normal. This test confirms an AS diagnosis in about 60% of cases. We are in the process of deciding whether or not to go through the additional tests, but most likely, we will. They are complicated (yet non-invasive - mainly blood draws) and potentially not covered by insurance. If she does test positive for Angelman's, it will enable us to have a much more defined focus in terms of therapy, medications, and her future. Again, we are still in the process of confirming or ruling out this diagnosis and it may be months before we get through this and know for sure. Even then, she could end up with a clinical diagnosis, which can create complications in terms of getting services later.
I am still hesitant to get into lengthy discussions with the prospect of Mira having Angelman's, since at this point, it is premature. The point of all of this testing is to try to narrow down our efforts and find what helps her and what does not. The medication(s) right now are questionable - sometimes I think they are doing more harm than good since she still has not been able to gain any sort of seizure control.
Hope everyone is doing well and I will post again soon.
Saturday, May 26, 2007
So after many, many months (actually years....) of Mira not sleeping through the night, we found something that has worked beautifully, as of late - a box fan! We have a 'white noise' machine that we have used for months, with no consistency of her sleeping through the night. She was getting up every 1-2 hours, every night. Well, after things started warming up here in KC, we turned on the attic fan (which makes a lot of noise during the night) and she slept great for a couple of nights when it was on. In order to replicate the noise when the AC is on and the windows are shut, we took out an old box fan, which has a very similar noise to the attic fan and she has slept through the night THREE NIGHTS IN A ROW!!!!
Could be the fan, could be something else - I don't care. Sleep is sleep.
On a side note, we are awaiting the results of some additional genetic testing done - as soon as we get it, I will post.
Saturday, May 12, 2007
Last night, Mira was so excited, she ripped out a great extended belly-laugh and was really digging The Bunz, laughing loud and smiling at him, her arms and legs flying around. Rare form for Miss Mira - we haven't heard her laugh like that in a long time.
So, Bunz, thanks for the memories........sure wish we got it on tape!
Saturday, May 5, 2007
We thought we were in the clear with the rash on her face, but it came back with a vengeance yesterday, so we have to go another round with her 'supercream' to knock it out for good. She also moved up to 10mg on the Lamictal on Wednesday (week 5) and so far so good.
I had heard through the I.S. grapevine that a new medication is in Phase II Clinical Trials (takes a long, long time for medications to reach this point) that is specifically designed for kids diagnosed with Infantile Spasms called Ganaxolone. The trial is currently recruiting patients, so this week I contacted the company and unfortunately, Mira does not qualify, due to her past AED medication history. If other parents are interested, the link is here: http://clinicaltrials.gov/ct/show/NCT00441896 Ganaxolone is manufactured by Marinus Pharmaceuticals which is here: http://www.marinuspharma.com.
Tuesday, May 1, 2007
Just a few picks from the run below. Thanks so much to everyone who ran (well, pushed strollers) with us this year and to everyone who donated to CCVI.
I also finished a video of Mira, which is posted below. It is also linked to the Yahoo site in the upper left hand corner. Thanks again!!!
Sunday, April 29, 2007