I received confirmation this morning on Mira's SMEI/Dravet's testing and it came back normal. This genetic test was one of the more exhaustive (and expensive at $6,200) genetic tests out there. The lab was looking at a very specific deletion/mutation of a very specific gene called SCN1A. She has pretty much gone through all of the major testing - Angleman's, Rett's, and now Dravet's.
At this point, we are probably going to do one more additional screen, called an Oligo Array CGH (Cognitive Genomic Hybridization). Basically, Mira had some similar genetic screens back in 2005, soon after her seizures started, but it was at a very low resolution, meaning it only picked up major genetic organization. The technology for genetic screening has advanced so much over the past 2-3 years, that they can now perform a much more exhaustive scan at a much lower cost. This scan (neurology refers to it as a 'micro-array') is an extremely high resolution scan that is able to identify many more deletions/mutations in DNA than ever. Before this can happen, we need to clear it with insurance, since it costs about $4,000.
Mira has been battling a cold over the past few days, but is doing alright. Lots of snot. Need I say more? Sarah has been dealing with the same thing now for two weeks. I think she is exhausted from it. I am hoping that Spring is just around the corner........
Tuesday, April 29, 2008
Sunday, April 27, 2008
A Long Hiatus
Sorry it has been such a long time since my last post. We have been extremely busy over the past month, so without going into too much detail, I will give you the Cliff notes of what has happened with the house:
............Started searching for a new house. Looked at many, many houses and drove many, many neighborhoods. Fixed supposed cracked foundation to stop leaky basement to prepare our house. Put our the house on the market. Had almost 20 showing in 10 days with no offers on our house. Could not find a house worth putting an offer on in the neighborhoods we liked. Took our house off the market after 10 days and decided not to move. Basement flooded 3 times over the past two weeks since house has been off market. Still have a leaky house. Still have packed boxes in friend's garage and in storage...........
Sarah and I are pretty exhausted from this whole experience, but it has been a very eye-opening one at the same time. We are quite content with staying put and with the market as soft as it is currently, we felt like it was the best decision for us right now. We will deal with the bedroom situation as it comes. We figure we might be singing a different tune in 6 months (the baby is due in 8 weeks!) and might consider making another go at moving. But for now, it's nice not to have so many irons in the fire and it's just one less thing to worry about.
In addition to the house, the winter sickness and colds have been working their way around the house for seemingly forever. Sarah has been battling a cold and some congestion for over a week and it doesn't seem to be going away. It's getting passed around, with Mira and myself getting touches of it over the weekend. The weather isn't helping either - 65 one day then 30 the next.
As for Mira, she has been doing well too. I am happy to report that she is still seizure free, although she has been having what I swear I thought were head drops at one point. They are very subtle and you wouldn't know she was doing it, unless you have seen it as many times as Sarah and I have. She had a few (at least they looked like really quick ones - not completely sure) on Wednesday and then one today. I emailed her neuro and asked and his recommendation was just to keep a close eye on her and we could always up her Lyrica dosage. She has been on it for nearly 6 months and has not had to increase yet, so it isn't unreasonable to think that based on her growth and weight, that she might need to increase the dosage.
Her sleeping has not been so great as of late. She has been getting up at all hours of the night, usually crying out. Most of the time, she settles down after a few minutes, but other times she really gets worked up. It has also been difficult for her to 'decompress' at the end of the day and she will fuss in her crib for an hour off and on before she finally gets to sleep. None of this is out of the ordinary for her - she has had erratic sleep patterns her whole life. It comes and goes.
We don't have anything lined up on the books with neurology, since nothing has changed much over the past few months. We will probably get Mira in for a visit sometime over the summer, unless something changes drastically before then. We haven't heard anything back on the Dravet's testing, which was ordered at the end February. Apparently, it's not uncommon for the results to take 2 months or more. We will keep waiting.
I did manage to upload several videos (see 'Other Mira videos' link on the right side of the page) of Mira doing some funny things. She really gets wound up, often for no apparent reason - one episode I was able to capture on tape back in January. We also found that she gets particularly excited over the food processor and the dust buster. Not sure what it is about certain appliances and noises, but it cracks her up.
Hope everyone is doing well and apologies for not getting our ducks in a row to do the Trolley Run this year. There was so much on our plate over the past few weeks that we just couldn't get organized to do it. The actual run was today.
............Started searching for a new house. Looked at many, many houses and drove many, many neighborhoods. Fixed supposed cracked foundation to stop leaky basement to prepare our house. Put our the house on the market. Had almost 20 showing in 10 days with no offers on our house. Could not find a house worth putting an offer on in the neighborhoods we liked. Took our house off the market after 10 days and decided not to move. Basement flooded 3 times over the past two weeks since house has been off market. Still have a leaky house. Still have packed boxes in friend's garage and in storage...........
Sarah and I are pretty exhausted from this whole experience, but it has been a very eye-opening one at the same time. We are quite content with staying put and with the market as soft as it is currently, we felt like it was the best decision for us right now. We will deal with the bedroom situation as it comes. We figure we might be singing a different tune in 6 months (the baby is due in 8 weeks!) and might consider making another go at moving. But for now, it's nice not to have so many irons in the fire and it's just one less thing to worry about.
In addition to the house, the winter sickness and colds have been working their way around the house for seemingly forever. Sarah has been battling a cold and some congestion for over a week and it doesn't seem to be going away. It's getting passed around, with Mira and myself getting touches of it over the weekend. The weather isn't helping either - 65 one day then 30 the next.
As for Mira, she has been doing well too. I am happy to report that she is still seizure free, although she has been having what I swear I thought were head drops at one point. They are very subtle and you wouldn't know she was doing it, unless you have seen it as many times as Sarah and I have. She had a few (at least they looked like really quick ones - not completely sure) on Wednesday and then one today. I emailed her neuro and asked and his recommendation was just to keep a close eye on her and we could always up her Lyrica dosage. She has been on it for nearly 6 months and has not had to increase yet, so it isn't unreasonable to think that based on her growth and weight, that she might need to increase the dosage.
Her sleeping has not been so great as of late. She has been getting up at all hours of the night, usually crying out. Most of the time, she settles down after a few minutes, but other times she really gets worked up. It has also been difficult for her to 'decompress' at the end of the day and she will fuss in her crib for an hour off and on before she finally gets to sleep. None of this is out of the ordinary for her - she has had erratic sleep patterns her whole life. It comes and goes.
We don't have anything lined up on the books with neurology, since nothing has changed much over the past few months. We will probably get Mira in for a visit sometime over the summer, unless something changes drastically before then. We haven't heard anything back on the Dravet's testing, which was ordered at the end February. Apparently, it's not uncommon for the results to take 2 months or more. We will keep waiting.
I did manage to upload several videos (see 'Other Mira videos' link on the right side of the page) of Mira doing some funny things. She really gets wound up, often for no apparent reason - one episode I was able to capture on tape back in January. We also found that she gets particularly excited over the food processor and the dust buster. Not sure what it is about certain appliances and noises, but it cracks her up.
Hope everyone is doing well and apologies for not getting our ducks in a row to do the Trolley Run this year. There was so much on our plate over the past few weeks that we just couldn't get organized to do it. The actual run was today.
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