New Labs

Mira had labs drawn again on Monday and the good news is that her cholesterol dropped 7 points and her lipid levels came down some too. Her alkaline phosphatase level(s), which were 1148 last time, dropped down to within a normal range.

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.

A Long 10 Days

Over the last 10 days or so, Sarah and I have been going round and round with neurology and Mira's dietitian with the Modified Atkins. We feel like there has been some stalling and indecisiveness by everyone, including us, on exactly how we should proceed with the diet and not complicate things further. It has been an emotionally exhausting week.

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.

Continuing the (further) Modified Atkins Diet

After some discussion about what to do next, Sarah and I spoke again with neurology and decided to continue the Modified Atkins Diet, while seriously cutting back on Mira's egg, cream, and butter (high fat/cholesterol) intake. We area going to try to get her calories from other foods, so she can try and maintain some sort of ketosis and get the calories that she needs too.

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.

Sleep Issues Again

After having two great days in a row (no seizures and in a great mood Wednesday and Thursday) Mira had two seizures this afternoon. She has been getting up again at night too, usually starting about 9:00pm until midnight, about once every hour, and usually screaming for no reason. Over the past few months, her sleeping has been fantastic and I am nervous that the streak will be disrupted! Does the box fan have a 'super-speed' level?!

Lab Results

We talked to neurology on Monday morning to find out Mira's lab results from last week and we were essentially stopped in our tracks with the diet. Mira's cholesterol was way above normal, clocking in at 249. The range for normal/acceptable cholesterol is 45-182. Her LDL level (low density lipids aka the "bad" cholesterol) was 166. The range for LDL is 65-120. Her alkaline phosphatase level(s), which are an indication of liver function came in at a whopping 1148. The range for this is 110-320. This could be attributed to a growth spurt.

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.

On the Road to (Modified) Atkins

Sarah and I met with a dietitian (and Mira's former neuro's nurse) through the neurology clinic at Children's Mercy to initiate a modified Atkins Diet with Mira. We have been discussing the Ketogenic Diet for quite some time, but have been very reluctant to start her on it, for a host of reasons. What we have discovered, through some research, is that Johns Hopkins has been performing some trial studies with a 'modified' Atkins diet, citing similar results to the classic Ketogenic Diet, without the fasting/hospitalization requirement (see this link for more details). Recently other hospitals, including Children's Mercy, have been adopting the modified Atkins as a treatment for epilepsy.

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.

Party and Holiday

The rain held off for Mira's party on Sunday and all went well. The circus tent was THE place to be for anyone and everyone (adults included!). Most of the kids were quite content hanging out in the tent, coming inside only for some rejuvenating pink lemonade or for a sugar boost so they could keep on jumping. Miss Mira received some wonderful gifts (thanks to everyone!!!) and seemed to be having a pretty good time.

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).

Thanks to all for making Mira's birthday such a success - especially to Sarah for being the perfect organizer, hostess, and of course, Mommy.

Happy Birthday Mira!!

Mira turned 2 today! I was able to come home early from work and Sarah had her all dressed up, complete with a silver princess crown. Mira's big celebration will actually be on Sunday, with circus bounce tent and all. Yes, that's right, we are renting an inflatable bouncing tent for 4 hours, guaranteed to produce a minimum of three vomiting episodes and yield several temper tantrums, and not just by me.

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.)

Recent Neurology Discussion

I had a fairly lengthy discussion with Mira's neurologist on Friday afternoon, finally after weeks of trying to reach him directly. Sarah and I have been very anxious to discuss the results from Mira's Angelman's testing.

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.

Seating Clinic

After getting on the wait list six months ago, Mira's appointment with the seating clinic at Children's Mercy finally rolled around this afternoon. We met with several therapists, clinicians and seating specialists (Maureen - Mira's PT also graciously came along) and discussed what types of equipment Mira needed in terms of her positioning and overall functioning and mobility. Mira has long outgrown her bucket carrier car seat (yet we still use it around the house and trips to Target -- don't worry we don't actually use it for transportation in the van!). Occasionally we have her in a Tumbleform chair (which is on loan from the IDC) but mainly we have Mira in a space saver high chair that she eats and plays in, though it is not ideal for a lot of reasons.

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.

Increasing Lamictal

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.

Recent Events

Mira's sleeping through the night continues to go fairly well, knock on wood. This past Thursday, she slept about 10 hours straight, which is pretty rare these days, but overall she is having some good nights. Last night was an exception - she was up several times and had a pretty big seizure about 3:30am. Today was a pretty rough day for her, having four or five pretty big tonic-clonics. We did manage to go to the Royals game this evening for my company's annual tailgate and we all had a great time. Eli wasn't impressed with 'Sluggerrr' (the mascot) and told him to scram on several occasions.

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.