New Pictures and Updates

Now that the RSV fiasco is almost completely over, things feel as though they might actually be reaching a level of normalcy around the house. Jonah still coughs every so often (and at night wakes himself up in the process), but I think we are in the clear. We took the nebulizer back to the pediatrician's office on Friday, so the breathing treatments are officially over.

Mira is doing alright. She has had a few nights of screaming and crying, but nothing out of the ordinary. She woke up Wednesday night and had a lot of difficulty decompressing for a few hours, but eventually went back down. Sarah and I decided on nights like that, we probably need to break out the trazadone to help her calm down and get some rest. The trazadone tends to work quickly. She ends up having a rough day through therapy and eating after a patchy night of sleep.

We are talking with neurology and genetics (and have been for weeks - it's a slow process) about getting some additional Rett's testing. As it turns out, there are four different testing scenarios in regards to Rett's. Mira has had 3 of the 4. She has been tested for the MECP2 variant ('typical' Rett's - both mutations and deletions) and CDKL5 ('atypical' - early onset Rett's - but only for mutations, not deletions). Therefore, CDKL5 testing for deletions, would be the last test. Neurology and genetics need to discuss what the right testing procedure is for the right variant. It all takes time.

We are hopefully going to order Mira's bed in the next couple of weeks, which is exciting. We are working on getting the funding in place through several (generous) local organizations. The director of Mira's school has been an IMMENSE asset in this endeavor, pointing us in the right directions and being our liaison to several orgs. On the other hand, insurance has been no help in this whatsoever. The approach insurance often takes is to wear you down through paperwork and processing time so that you ultimately give up in trying to navigate the 'system' (dare I call it that). Insurance is exhausting and frustrating sometimes, but at the end of the day, I am grateful that they have paid for just about everything else.

I may or may not have mentioned it before, but Sarah and I have been planning on putting an addition on the house for quite some time. Now that we officially are out of bedrooms and tripping over our own feet in our 900 square foot mansion, it's time to move forward with it. I met with several contractors last week and we are in the process of getting bids back. The market is soft and I think most GCs are hungry, which works in our favor. The way this will probably pan out is that we will have the shell and framing put up on the house and we will take on the rest of the interior construction. I suppose it will be a good learning experience for Eli to learn how to hang drywall and pull electrical conduit. Sarah will also have to invest in a good tool belt. Anyway, it's all moving forward and we hope to have some bids back by the end of the week.

And yes, we are still having fun with the camera - we found that one of the great things is getting really close up shots of facial expressions and lately, lots of drool. Enjoy!

New Pictures

Now that the RSV has

Happy New Year! (Cough)

If there is one thing that the holidays provide in our household, it's adventure. While Christmas itself came and went without much fanfare and excitement, the week after was pure crazytown. Jonah contracted RSV and is just now starting to get over it. He has been vomiting off an on for a week or so, with today being his first vomit-free day (although technically it's 11:30pm - there's still time)...... The coughing and sickness made its way around to everyone else eventually, including Mira, who is now battling lots of phlegm and periodic coughing fits. Needless to say, we are all pretty wiped out from all of the fevers, sneezing, coughing, gagging, breathing treatments, and of course, non-stop laundry from cleaning up puke. Delicious.

One of Mira's big gifts this Christmas was a piano/keyboard, which has light up keys. She has always been fond of her globe toy (which has seen better days) but we figured we could get her something to bang on that offers a little more visual and musical excitement. She wasn't too enthusiastic about if on Christmas Day, but we are hoping she will warm up to it.


One of the highlights of the holiday season (prior to the RSV onslaught) was getting a surprise visit from Auntie Aura, Uncle Ware, Addy and Truman! Friday evening I answered a knock at the door and to my surprise, Addy was standing on our porch yelling 'Merry Christmas'! It took a few seconds for it to register as to why and how my nephew from Illinois was standing there, but eventually it sunk in. We did get to enjoy a few days hanging out between Christmas and New Year's with the whole gang.


As far as medications go, we had Mira on an increased dosage of Lyrica for over two weeks and it did not go well. The increase really knocked her out. She started sleeping a ton - most of it during the day. When she was up, she was pretty irritable. She has been really cranky over the past few days in particular, probably from all of the congestion and phlegm. her first experience with Lyrica was pretty dramatic in halting her seizures (within a few days), but the increase this time didn't help at all. We didn't see any difference in seizure activity over the past few weeks. Lots of head drops and myoclonics throughout the day.

Sarah and I were having a conversation about Mira and seizures and I think we've come to some harsh realities in this journey with her. I think 18 months ago, I would have thought that there is a 50% chance that something would stop them. Now, I can't help but think that the likelihood of ever gaining seizure control with her is close to zero. We have exhausted all of our options with medications and are frankly just plain exhausted with it all sometimes. It's the days when she is screaming her head off and you can't figure out why or what to even do for her, that it all feels so helpless. We just continue to take it day by day. Sorry for the mildly depressing rant - it's late and I am sleep deprived. I will post new pictures soon.

Christmas is Almost Here!

Nothing much has been happening around here, other than we are all excited about it being 2 days away from Christmas! It's funny how I just remember it being December 1st 15 minutes ago. December always burns by in a flash and suddenly it's Christmas?!

We moved Mira up to 100mg on the Lyrica over this past week and frankly, it doesn't seem to make a bit of difference. She seems significantly sleepier and overall a little doped up. She's having just as many seizures and the irritability factor is still present. We will give it a little while longer to see if the increased dosage will 'kick in' (maybe another week or so) but we are not optimistic. Mira's neuro didn't seem to think it would work, but it is certainly worth a try, since it's the only medication to ever work for her.

Mira is still taking the melatonin and still getting up in the middle of the night. We could either bump her dosage up or try a time-released brand of melatonin. The fact that she is able to get in a few solid blocks of sleep throughout the night is a dream (no pun intended) in comparison to what we were all going through a few months ago.

On the bed front, insurance denied our claim (the correct claim this time) with the explanation that our policy has an "exclusion" for anything but a 'regular hospital bed.' It's comical almost to imagine Mira sleeping SAFELY in a bed like that. Why yes, that seems safe to put my 3 1/2 year old child with severe dyspraxia and hypotonia in a bed with 12" side rails elevated off of the floor several feet. That makes sense.

So, we are currently looking into alternative funding sources available to us here in the area, through Mira's therapy group/school and some other local organizations. From what we have been told, there is funding available, we just need to apply. We were able to get part of Mira's stander and KidCart funded through similar groups in the past. We will see what happens and hopefully have Mira in a new bed not too far into January.

I did have a brief conversation with Mira's neuro about having her screened for a recently discovered Rett's Syndrome genetic variant called FOXG1. He is doing some research on it to see if it makes sense to have her screened for it. Mira was screened for MECP2 and CDKL5 (and the results were negative), the only two known and well documented genetic screens for Rett's. FOXG1 seems to be the third that is only recently coming into focus. At this stage, we will leave it up to her neuro to make the call whether it makes sense to have the screen done.

Moving on Up

We didn't really notice any difference in adding the ranitidine over the past week, so we suspect that Mira's irritability is not due to reflux, but most likely, it's all just neurological. We increased her Lyrica dosage to 75mg daily and will hold there for a week, most likely moving up to 100mg next week. We will wait and see what happens.

Sarah and I are still having fun with the camera. We tend to get some good pictures (catching Mira is strange poses as though she is telling some 'big fish' story) but we still need some guidance on getting the most out of the camera. The beauty of digital is that you can take as many shots as you want without it costing a thing.



Mira is fairly consistent in her sleep these days. We have stopped giving her the trazadone and opted to just give her melatonin only. We give her 2.5mg before bedtime and she sleeps pretty solid until about 1am, then wakes up crying. We give her another 2.5mg and she sleeps until about 5:00am-6:00am and usually wakes up crying again, probably because she is hungry. She has been consistently doing this most of this week, which is actually a nice change of pace. I am personally glad the nightly inconsolable screaming fits have stopped for now, knock on wood!

Neurology Visit

Sarah called neurology this morning in hopes to schedule an appointment, which usually takes about 2-3 months just to get on the books. As luck would have it, someone cancelled this morning and we were able to get in this afternoon! We gave her neurologist an information dump as to what has been going on over the past few months. We all agreed to do a trial of ranitidine (Zantac) in hopes of targeting some of Mira's possible ailments. Since Mira can't tell us what is going on, we have to play 'Name that Fuss'. So at this point, our best guess is that all of her irritability could be reflux. So, either the ranitidine will give her some relief or it will do nothing. I hope and pray that it helps her and it's something very simple.

As for the seizures, we are going to do an increased trial of Lyrica after a few days of the ranitidine and see what happens. No one seemed to have any definitive suggestions at the appointment as what to try next in terms of seizure control, so this is our best option for now.

Update

Mira's sleep over the past few nights hasn't improved much. It took her and hour last night to stop screaming and fall asleep, only to get up for several hours again, from about 3:30am until 5:30am. Part of the problem as of late is that we have a few variables in motion, which included adding Gabapentin, which I will get into later. The other thing is that Mira has been battling constipation for months now and when she has trouble clearing out her system, it only adds to her sleeping problems and irritability. Needless to say, we have been giving her Miralax nearly every day to help with the constipation and it seems that when we miss a day or two, it really throws her whole 'chi' off and we ultimately pay for it days later. Well today was the day for her to clear out her system. This has happened several times over the past month and the result is the same. The only detail that you need to know is that another outfit has been officially ruined.

The trial with Gabapentin has been another medication disaster. I think we are now 0 for 4 with post-Lyrica medication trials. She has been on it for about 10 days now and not only have we seen a marked increase in her irritability (yes this could be attributed to her ongoing constipation, but not for 10 straight days.......) but Sarah and I are seeing a substantial increase in seizures. I swear she was consistently having one every 15 minutes today. Lots of hand wringing on her right hand side and funny movements for a few moments after every seizure too. I thought the premise of the medication was to DECREASE her seizures?! I don't know where we are going to look next, but we have discontinued trying Gabapentin for now. It was a very low dosage and there wasn't anything positive about it.

We did receive a letter back from our insurance last week, giving us written confirmation that they have denied our claim for Mira's bed. The problem is that they denied the claim based on a motorized bed, not the manual one we had requested. I'm not sure what happened during the claim process, but basically they denied the claim based on the wrong type of bed. Now we have to try to get our insurance back on track and make sure they are processing the claim for the right bed this time. More paperwork and phone calls.

After years of fighting to get decent pictures of the kids with our point-and-shoot digital camera, Sarah and I finally invested in a digital SLR. After two days, I love it. No more 5 second delays, takes and retakes, and trying to capture decent shots with the kids! The SLR is so slick and has so many foolproof options that it's hard to take a bad picture with the right lighting. Mira posed like a rockstar this afternoon in her 80's shades for us to test out the new camera.

The Long and Winding Road

Sorry it's been such a long time between posts, but things have been fairly hectic over the past few weeks. Unfortunately, our positive melatonin experience(s) had pretty much subsided after my last post on the 3rd. Mira had a couple of great nights at 1mg, but it soon wore off and she returned to her poor sleeping pattern. She started getting up earlier and earlier, so we increased her dosage to 3mg and it was still only helping her for a few 2-3 hour stretches every night. She continued to scream relentlessly during the night, so we ended up calling neurology for some relief. No one seems to be getting quality sleep these days.

After pleading with neurology for some help, her neurologist recommended trazodone, which is a sedative. It's not uncommon to use for kids with developmental disorders and sleep issues, so we figured it is worth a shot. We started her on a low dosage and have since moved up to 25mg at bedtime. It seems to work for a while, letting her sleep solid usually until midnight or so. She consistently gets up and has a few of her screaming fits throughout the evening, in which we give her melatonin again to help her settle back down. It's a vicious cycle of sleep deprivation and irritability with Mira at night and we are just frankly exhausted from it all. We will be starting her on gabapentin (brand name is called Neurontin) which has a nearly identical mechanism of action as Lyrica, to help combat her seizures. I still believe that the root of all of her sleeping issues are neurological and anything within reason that might help is certainly worth trying.

We have been putting Mira in her stander every day, with her AFOs and she doesn't seem to mind it. She loves to try and throw herself backwards once upright, but eventually settles down and gets used to being in a standing position. It turns out to be a two-person job just to get her in the stander, since she is the queen of wiggling, squirming, and kicking. One has to take extra precaution when she is wearing her AFOs, since they are basically pointed plastic weapons once they are on her feet. They are rough on the chins (mine and Sarah's that is).






We did hear back from our insurance this morning on Mira's bed and our company denied the request. We could appeal, but having heard from other parents requesting similar equipment, it's a long painful battle and unlikely to end positively. Therefore, we are looking at $4850 for the bed. We are planning on calling the manufacturer directly tomorrow to ask them specifics on the bed and see what options are necessary and whether we might be able to reduce the cost some.

A few weekends ago we made the trek to Illinois for a few days at Auntie Aura + Uncle Ware's house. We went to an awesome pirate birthday pool party for Addy and had a wonderful time. Did someone say scurvy dog?!





Despite all of the broken sleep and ongoing trials with Mira, she seems to be taking it all in stride. Some days she does really well in therapy, is happy, and seems to be a chatterbox, vocalizing all day long. The next day, she might be on the opposite end of the spectrum, crying and fussing all day. If there is one thing consistent about Mira is that she is inconsistent - you never know what the day is going to bring. Kudos to my wonderful wife Sarah, who endures the daily nuances and at times, complete chaos in our house (appropriately referred to as 'crazytown' more often than not) day in and day out. You are awesome and I love you.

Melatonin Day 2

A big thank you to all the positive feedback and good vibes I received from everyone regarding melatonin. We gave Mira a 1mg tablet last night and I only heard her once, again at 4am very briefly, and she was laughing! She went back to sleep and I didn't hear her stirring around until 6:15am, which was when Eli came storming up the stairs wanting to tell me all about his nightmare about giraffes. Note to self: no more nature shows before bed. Anyway, I think we will stay at 1mg before bedtime and go up if need be. Right now, melatonin is our friend!

I have been corresponding via email with Mira's neurologist about what we might try next, but I think we are not going down that path for at least a week or so to give Mira a break. Her neuro wants to think for a while on what might make sense at this point to control her seizures.

Let the good nights continue!

Melatonin

After weeks of poor sleep, we gave melatonin a try with Mira. We gave her 0.5mg (very low dosage) before bed last night and she slept from about 7:30pm to 4am, even with daylight savings time! That was probably the best night of sleep she has had in weeks. She did get up crying at 4am, so we gave her another 0.5mg and she slept in another few hours.

We haven't seen any sort of withdrawal symptoms after stopping the ethosuximide, nor have we noticed any spike in seizure activity, which is all very promising so far. Let's hope she can go two nights in a row!

This Past Week

We have had a pretty tumultuous time with Mira and her sleep over the past week. Frankly, things are really bad with her getting up in the middle of the night. She has been consistently getting up and staying up for hours, crying and screaming. Last night was a very bad night for her. She continues to be inconsolable during these episodes too - nothing seems to help. All of the insomnia, screaming, and terrible sleep cycles began when she started on the ethosuximide.

While Sarah and I think we have been seeing slightly less seizures with Mira over the past week, the constant screaming and crying in the middle of the night is more than we can stand. I have said this time and time again - either the medication works or it doesn't and in the case of ethosuximide, it was only partially working and the side effects for Mira were horrendous. We took her off of it today. We gave her a small dosage of melatonin this evening to help her hopefully sleep better.

We are so tired of the medication-go-round over the past few months. It is so exhausting for everyone, especially for Mira. We basically have few options left in terms of medications and are jaded by all of Mira's poor responses to everything we have tried since Lyrica. We will probably push on her neuro to try Gabapentin (which has nearly the exact mechanism of action as Lyrica) if things get worse again, but we are going to give Mira a break for a while. She has to be exhausted.

On a positive note, Halloween turned out to be picture perfect for all of the kids. Great weather and great costumes. Mira was a monkey, Jonah was a banana, and Eli was a Star Wars Jedi. Sarah rigged up Mira's switch on her Kid Cart tray so that when she smacked it, it said 'trick or treat'. Worked like a charm!

This Past Week

We have had a pretty tumultous time with Mira