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.