We made it! Merry Christmas Everyone

I didn't want to post yesterday to jynx anything, but we made it through all of Christmas Day at home! We didn't have to go into the hospital, or even think about seeing a doctor! She did have 9 seziures yesterday - which is about average - but most of the day she was happy! Very "smiley", mostly alert, the occasional cooing, it was a good day. Towards the end of the day she got really grumpy, but she also didn't ever get a full nap all day either, so she was just exhausted. She fell asleep pretty early, and I like when she does that because her medicine is due early(ier) - between 7:30 and 8:30 in morning-so I would prefer her to fall asleep early(ier) and wake up more easily for her medicine than me have to wake her up to give it to her, then she get angry because she is still so tired and scream herself back to sleep (and maybe have a seizure in there somewhere). This morning we woke up for meds around 8:30, she ate around 7.5oz then we both fell back asleep until 12:30pm!! What a wonderful treat! She was still sleepy after her bottle, and I was okay with that because I was also so exhausted from the past few days. After we (finally) woke up, I fed her again and changed her bum she was again happy! Almost all day she was "very pleasant" as her Grandma Heidi says it. I've seen more "smiles" (I put that in quotes because it's not like what we've seen before, but they are smiles none the less), heard a few more coos, and just overall a very content and happy baby. She has had 7 seizures today so far (she's had a few more very, very small ones that we didn't add into the count) but it's almost time for meds so I can expect one or 2 more before then...as I've said before 8 is about an average day, so we are not too worried about it, especially with how happy/content and alert(ish) she has been between them.
     I may have mentioned this in a previous post, but I started giving Abigail some Aloe Vera Juice in 1 or 2 of her bottles each day since I read that it acts as a natural digestive system repair, and i'm sure the most of you have heard about my iron rant and the desire to take her off of that to help her belly, but until I get the "OK" to do that I have tried several things to combat the belly/constipation issues that have been exhibited. The first was miralax, and that used to work wonderfully, but then I had to start giving her more to get the same effect (which isn't normal) until it became too much and the miralax was hurting her belly more than the iron/constipation was. So we stopped that. I have since tried pedialax which seems to work off and on, an I found an herbal constipation remedy spray that i've only tried once or twice so I don't know the effects of that, but Aloe has really seemed to help. I haven't given her a laxative since friday or saturday (can't remember) and have given her aloe since then and she has been able to pass movements - they've not been really big and are still really sticky/hard, but she has proven to be less irritable none the less. The only issue is Grandma Heidi made an observation that at first I shrugged off but then put more thought into so right now I'm testing it out. Abigail has been getting some really nasty rashes on her face that I can't seem to get to go away no matter what I put on it - eucerin, aquaphor, cetaphil, coconut oil, even desitin. They all have had their short term effects on the rash at times, but nothing that's completely gotten rid of it. (Surprisingly, desitin showed the best results of all of those though). Aquaphor has also had it's moments of glory, but Heidi one time simply mentioned that maybe it was the Aloe that was causing it. Like I said, I brushed it off because i'm pretty sure she's been getting that bad of a rash since before I started the Aloe, but now that I think back I can't remember. So I thought it was worth a shot to at least see if there is any type of connection. So I didn't give her any aloe the rest of the day, and haven't given her any today. So far her rash has not come back as badly as it was there before, but so far that doesn't mean anything. I have seen days of no rash, then it comes back full force, so for now I will hold off of the Aloe (unless I start to see belly issues again) and see if there is any connection between the juice and her skin rashes...I am still pretty sure she's gotten these types of severe rashes since before I started the Aloe Juice, but it's worth testing it out! It very well could be her medicine as well, we've seen that before with phenobarbital so it only makes sense it would happen again. We'll see, I'll keep you posted.
     BUT! I have some great news! I've been bouncing back and forth with the doctors about starting this new medicine called Potiga (I know I have mentioned it before) that has good positive clinical results in kids with the same KCNQ2 mutation that Abigail has. Since it is so new and they have never prescribed it they were very hesitant in even talking about it. After some annoying persistance on my end they finally agreed to look into it. Then we had to wait and make sure insurance would pay for it - so it's been about a month since I finally got the "Okay, we'll look into it more" until the "okay, insurance says it's a go you can pick it up tomorrow"! We are so excited. I found this wonderful facebook page with about 51 members who all have the KCNQ2 mutation (some have other diagnosises as well) or are somehow associated with this mutation - whether they have it, or know someone who does. There are several of them that are on potiga and have seen great things from it. One family is on Potiga specifically to help with increase in cognition. Their daughter has actually not had seizures for quite a while, but they started her on it for the cognition benefits - that's good news too! From the information that has been collected from our group - 8 people are on potiga and 4 of them are on ONLY potiga, nothing else! 2 of them are on Potiga and only 1 other medicine. That would be SO nice. If that's something that is even possible for us It would take a long long time to get there with weaning off the meds she is currently on one at a time. But we got the clear today from insurance and have high hopes. I am worried, there are some side effects that have been found, but we are hoping to get the results others have gotten. The last few days I've been keeping calm by saying that if Insurance will not cover Potiga then it meant that we weren't supposed to be on it, (of course I would fight and try again) but with the recent information that has surfaced about the asymptomatic RTA, I would also like to give Topomax another try. There are a lot of things I would like to "try" with her meds. I kind of think Potiga and Topomax (and maybe keppra) would be our silver bullet, but I'll work within the rules and just do one thing at a time.
     I also found out more information about the high CBD/low THC strain of cannabis oil and how to get a hold of that. There is an organization in California and Colorado called The Realm of Caring..They have been wonderful at getting back to me quickly with responses and answers and the next step of action. However, due to the way that the wait-list and plant harvest works in Colorado (I only looked into Colorado so far, not California yet) The earliest I could get my hands on some oil would be after October of next year, and that's if everything goes smoothly between now and March. I guess the harvest is every March and October so if you get all your paperwork in by October you can get in after the March harvest and visa versa - if you get all your paperwork in before March you can get in after the October harvest. So, I will still work towards getting the necessary paperwork for Colorado while also looking into how Cali and maybe even Washington state works. NJ is getting close to making it more accessible, but they still have a lot of hoops to jump through. Utah is still working hard at making it available here, but I feel like they still have a long way to go. Also, in Colorado, I couldn't go to a Neuro through the children's hospital there as they are not allowed to deal with the oils- I would have to find a private practice one, I guess, to get the questions I need/want answered.
    Anywho, I went on a rant and I didn't mean to. I intended this to be a short post about how me made it through Christmas with no hospital stays and how overall happy Abigail has been. That's what we like to see. I hope this means the Potiga will only help to make things better. Any information on causes/resistance to skin rashes would be helpful. Also, if anyone that reads this knows of any Neuro's that have dealt with CBD oils that I can get their information that would be even more greatly appreciated! Preferably CO, CA, or WA, but really anywhere in the US would be great.

Thanks Guys! I promise I'll get pictures up eventually!!

This is AbiNormal

Oh yeah! Abigail got to meet her Aunt Natalie for the first time yesterday as well! Abi really seemed to like her! :) 

I feel like there was something else I wanted to say, but I can't remember...I guess I'll add it in later if I can think about it. 

Thanks again! 

ABI IS A ONE YEAR OLD?!

     Today is Abigail's first official day as a 1 year old. I can honestly say that with even all the 'happs' of the last year for Abi and our family, it still went by pretty darn quickly. It's so bittersweet..I have learned so so much about Abigail's condition and Abi has made some huge progressions also. We've seen some of her potential a few months out of that last year, and even though we have seen some big setbacks in her progression we know what she is capable of and just have to find the medicine and therapy cocktails to help her reach her full potential, whatever that may be. There is nothing pointing to her not being able to progress or anything that would be a big roadblock (minus the seizures, but that goes without saying.) The Rehab doctor said she shows all the positive signs of improvement and likes the progress that she has seen. When we get back to reality after the new year we will start Abigail on Physical Therapy, Occupational Therapy, and Speech Therapy through Dixie Regional Rehab, as well as have early intervention PT/OT and Eye Therapy still visit us at home about 2x/month each. We will be very busy with those things, but they work! We will also see Rehab every 3-6 months depending on her progress and need. The Rehab doctor told me that as a general guideline if a child is sitting unsupported or unassisted by the age of two, then they expect them to be walking with assistance by the age of 5..that's wonderful news! We will work very hard with Abigail this next year on her sitting up by herself. She is already showing good positive signs of it!
     We can get Abigail to smile really well when she's stimulated in the right way (running with her legs, or swimming with her arms). She smiles with her eyes often too, but I can't wait until she starts smiling and cooing like she was back in July...Speaking of July, I really need to vent - Do you remember when Abigail had to go into the hospital in Vegas because of that prolonged seizure, and we ended up staying in the hospital for 4 days because the doctors there found RTA (renal tube acidosis) and wouldn't let her go until her blood acidity levels came back up to at least 15 (or maybe 16, I don't really remember), but either way. Then we decided to take her off of Topomax because that was the culprit of RTA and then that's when all the digression happened and leads us to where we are today? Well, putting her back on Topomax was not something I wanted to ever talk about during that time because I figured there has to be something else out there that will work just as well without the side effects, but never pushed it out as an option sometime in the future as she maybe got older and could metabolize the medicine better. Well, we are trying a new medicine soon, Potiga, that I am cautiously optimistic about, but am still preparing for the chance that it will not work and asked about Topomax again to our Epileptologist, Dr. Sweney (who is so handsome-not that that is important). What he said next made me SO MAD - not at him, but at the stupid Doctors in Vegas..and if you remember I was already so fed up with all of them there..anyway, after reminding Dr. Sweney that we took Abi off of Topomax because of the RTA this was our conversation (loosely as I don't remember word for word or the exact order) DS = Dr. Sweney Me = me
 D.S: "how bad was the RTA?"
me: "IDK, her levels were at like a 12 or something" ((The levels should be at a 20 - so it was very low))
D.S: "they only found it through lab work? Were there any symptoms [of RTA]?"
me:  "what would the symptoms have been? What are the symptoms of RTA?"
D.S: "Just really lethargic"
me: "NO! She was FANTASTIC - so happy! smiling, cooing, playing with her hands, alert, responsive, etc!"
D.S. *rolls his eyes "asymptomatic RTA is not a big deal - they just found it through lab work?
me: "yeah, she went in because of the seizure but then stayed until her RTA came up" (then I expressed my frustration of how much bicitra they had her on)
D.S. "I've never heard of a doctor using Bicitra for RTA from Topomax - I wouldn't have done anything for asymptomatic RTA"
me: "ugh that makes me so mad because they kept me there for 4 days over something I KNEW we didn't need to be there for! And then she was taking 11mL of Bicitra 3x/day! ugh! So Topomax is something you would try again?
D.S. "definitely, if Potiga doesn't show us what we want then Topomax is totally on the table for me"

I cannot express in words the amount of frustration that has been brought to the surface about that stay in Vegas due to that conversation. Remember how many times they had to stick her? And how many blue spells she went into during each one? And how the doctor wouldn't talk to me or let me listen in on their rounds about Abi? And how the doctor wouldn't answer my questions, and talked down to me? I expressed to him SEVERAL times that I did not think we needed to be there and I wanted to leave but I was stuck until Abi's numbers came up - then learned that it wasn't even that big of a deal! She was ASYMPTOMATIC - it wasn't even affecting her! She was at her greatest and we took her off the only medicine that showed such great effects because this arrogant doctor refused to listen to me or take any of my wishes into account. ugh, ugh, ugh. It just makes me sick to my stomach. The only thing I have to think is there is some sort of reason the sequence of events went as they did. Maybe we still had more to learn about Abi, maybe there was something else deeper that was being affected, maybe continued use would have created a worse situation, maybe we needed to get her off that to realize there were other, better options out there....but maybe not. Topomax was working and I have not seen Abigail back up to the level she was when she was on Topomax back in the summer. It just kills me. But! We will try Potiga and if it works the way we would like it to then in the end it is a wash. Or if it doesn't work the way we want it to we give Topomax another try and see if we get the same results. Maybe it wasn't the Topomax at all - maybe it was just her (doubtful because it was obvious that when she was on the Topomax things were fine and the day after we gave her her last dose of Topomax her seizures came back and that's when the down-slope started) Anyway, rant over, I just had to vent about it. Get University Medical Center out there with the AWFUL reviews. I wish I remembered the doctor's name so I could get his name blacklisted! No, I'm sure some people out there have had a wonderful experience with him, but for Abi and I, he is just NOT the doctor for us. Okay, really, I'm done - back on to happier things....

ABIGAIL IS ONE! She is happy and mostly alert, her head control is coming in and she is getting so big! (Maybe that could be why we needed to get off of Topomax to get a little more meat on her bones!) She is just under 18lbs now and 27.5 (maybe 28.5) inches. She looks healthy and seems to still be progressing. She is eating solids, mostly by bottle, but can take a spoon at times - she used to take the spoon really well so I know we can get her back up to it. I know she's got it all in there somewhere, we just gotta work with her to get it back, I'm not worried. She could still be so much worse than she is now although there is much work to do. She has so many people that love and care for her its fantastic and that alone gives her an advantage, I believe. I'm so blessed to have this little lady given to me, she is wonderful. She honestly is SUCH a good baby. Especially with everything she has to deal with she is just so sweet and easy going and overall happy. Like I've mentioned in a previous post, she is still battling tummy issues, and seizures, which makes her pretty irritable at times - but understandably so! She's amazing. One of her Aunts once talking about how strong she is said "she's all the avengers rolled up into one tiny adorable package" I love that! It's so true. I can't even imagine what she has to go through but she takes it like a champ!  Anyway, I promise I will get pictures posted ASAP.

This is AbiNormal! Love this girl.

Time to play Catch-up!!

Can you believe it has been 2 months since Abigail was discharged from her most recent stay at Primary Children's? I said I would post when we got home, but that never happened. Every day I thought "I really need to do that"..I'm really sorry about that!
     Not too much has changed though since October. Abigail is still having on average 8 seizures a day (sometimes more, sometimes less). She is overall pretty calm but we are still battling tummy problems. I really hope we can get her off of the iron supplement she is on and see if that helps with the tummy and constipation issues. We started her on Iron back in August because she was having those breath holding spells, if you remember. Her Iron wasn't low, but it was on the low side of normal and sometimes low Iron can cause those spells I guess? The pediatrician didn't think that was the cause or would be the cure, but we decided to try it anyway....now I am more than ready to get her off of that..It's just a pain now for everyone, in my opinion..but what do I know? I'm just the mom. I've mentioned it to her pediatrician on several occasions and each time he tells me that it takes a few months for the Iron supplement to make a difference because we have to give time for the bone marrow to make new red blood cells. But in our last visit I asked if we could get a level at her 1 year check up and if the numbers look right to take her off of it, he said okay..we got her levels checked 2 days ago and I called Dr. Larsen (her pediatrician) to leave him a message about the levels being sent to him and to take a look due to how anxious I was to stop giving it to her. Dr. Larsen is wonderful, we love him as a pediatrician for Abigail and I think he's probably really annoyed about me asking, but I really want to get her off of this silly stuff! It's gross, it's not doing anything, she hates taking it, I hate giving it to her, and it's most likely the culprit of her constipation and tummy issues! If we take her off and she still has all those tummy issues and/or starts having breath holding spells again then I will know I was wrong and put her right back on it...but for now I REALLY want her off of it.
     Actually, Abigail has recently started holding her breath longer at times while she is crying, but it's not the same as before, but I'll keep my eye on it still.  
The meds we are currently on are: Vimpat, Keppra, Prevacid, Gabapentin, and Iron. We have recently taken her off of clonazepam, per my request, and there hasn't seem to be too much change in seizure activity or anything once that was cleared out of her system. Abigail has started having some sort of "twitches" though that started slight (about a week before thanksgiving) and have become more prominent and seemingly more constant. Last night as she was falling asleep she easily had 100-150 twitches before finally falling deep asleep. They don't seem to bother her really, like she doesn't get upset or angry when having them, and as far as i've seen doesn't seem to have more after she's been angry or upset..They do, I think, tend to be more common around falling asleep though. She also just recently, within the last 2 weeks, has started waking through the middle of the night with crying/screaming. If I leave her be she will go back to sleep and will sleep in until pretty late but it's still new, and not necessarily cool. I would have never connected the twitches to coming off of clonazepam before Thursday after talking to Tanner, someone who also has seizures (he's 28, so a little older than Abigail) but he is also on Keppra and Clonazepam. He said the Clonazepam helps him with twitches like that. I explained a little bit what Abi's looks like and he said that was very similar to what would happen to him and even would explain back to me things I've seen that I didn't mention. IDK - maybe I'll mention it to the doc and see if that's something he thinks may be a correlation as well...I did mention to twitches to him a while back but haven't been able to get a good enough video to send him to show him what I'm talking about. It happens so often you would think that is something I could do, but it's harder than it sounds.
     We are starting a new medicine, Potiga, within the next week or two also that I may wait and see what and if that helps with any of these things before worrying about it. Like I said, the twitches don't seem to bother her, and I just don't know if they mini seizures or closer to the myoclonic jerks that she has always had while falling asleep..or if they are something different entirely. I would like to see them go away, but I don't feel them to be a pressing concern just yet.
    About Potiga though, we have high hopes for it, but are being "cautiously optimistic" because it is still a new drug and there is still much research to do on it. But there are several accounts of parents using it and it working wonders with their children (who all have the same genetic mutation as Abigail). We do still have to be cautious of two bigger side effects of urinary retention and retinal detachment...the second one sounds way more scary than the first, but every 3 months or so we will go in for an eye exam to be sure things are still looking on the up and up there. I have only talked with one parent who has seen any side effects from this drug and it was the urinary retention, which essentially just means they can't pee. The doc said this is more of an inconvenience than something serious, but if left unnoticed or untreated it can (obviously) become serious so just to be on the look out for decreased urinary output. We are getting Abigail in on a trial with this medicine so what we see with her will be on the books! That's kinda fun, huh? I also have heard from one parent who's child was put on this medicine specifically for increased cognition. That their child hasn't had seizures in quite a while, but was put on potiga for the cognitive benefits - I like to hear stuff like that! Medicinally, I would love to get Abigail off of gabapentin (which we already got he 'OK' for and have started to wean) and Iron. If all seems to go well with Potiga I would also love to try to decrease her vimpat and keppra doses as well. Getting her off of those completely would be phenomenal, but I don't think that is realistic by any stretch, so a decrease will do. I would love to have Abigail on only 4 medicines instead of 6 or 7 (Right now she is only on 5, but that is because we took her off of clonazepam).
    My TRUE desire is to try Cannibas Oil with Abi..it's absolutely killing me how badly I want to try it. The doctors won't even talk to me about it since its so 'new' and not even obtainable here in Utah..although there is a big push for it everywhere. I have been trying to find Neurologist's information from Colorado who I could get involved with to try to see if it's even something that would be a viable option for our particular situation, but that's presenting itself as a bigger challenge than you would think also. In due time, I guess, but i'll just keep trying.
    In summary:
- We are in the process of playing with Abigail's medicines (still/again) to find a cocktail that works until I can get my hands on Cannibas to try that.
- Abi's seizures have plateud to about 8/day
- Abigail has periods of being very alert, playful, and strong. We are working on getting her to sit up and sometimes she does very well with that.
- Despite some tummy issues and continued seizure activity, Abigail is overall a happy baby.

Thanks for keeping posted! Pictures to come next.

This is AbiNormal