Update 12/27/13

I realized it has been a really long time and a lot has happened since my last update! Things have been up and down, seizures were back so we decided to try the modified Atkins diet, not wanting to be hospitalized to do the full ketogenic diet. It took us 3 weeks to really get everything set up to be able to start, we had to get a thickening agent that wasn't full of carbs, and that is extreamly more difficult than you would think. So we got everything squared away an started it .. First day was not so bad but it just went downhill from there. Day 2 he was eating less and starting to be lethargic.. By the end of day 2 it was bad. Day 3 not wanting to eat or drink anything and we start the urgent care to hospital visits. Long story and very stressful couple days, and 3rd day we saw over 30 seizures! More than we have seen since he was first born. He ended up having an extremely low blood sugar and acidosis. He ended up in the hospital for over 3days ... We decided after that to stop the diet and try another option. Things since have been going pretty well. We are still seeing seizures here and there, but w the new treatment, a new healthy purée diet, he's gaining weight and seems just more aware and with it. Using his hands more and moving around ... For now things are good! We are getting to celebrate another season of holidays and are grateful for every seizure free day we have ;)

I am going to try to keep this as to the point and short as possible.. but wanted to give an update to everyone ;p

The apt went very good, I had been gearing up for weeks to fight, fight for Aiden not having to have a surgery or be hospitalized. To not feel like i was being pushed into something i didn't want to do... What actually happened was I told her about what had been happening lately, increased seizures and this time for no apparent reason. My biggest concern that although the seizures only last for less than a minute the post ictle (recovery after a seizure sp?) can last for hours and hours ending in lost development time and having to cancel therapies.

One of the options they had previously said they wanted to look at as an option was the VNS. Where they implant almost like a pace maker that attaches to the Vegas nerve that goes into the brain, sending electrical impulses to help with seizures. I was very against this option as what i knew of it was it included surgery, and there is little to no information as to if this helps children, let alone children with what Aiden has. To find out the surgery in adults is an outpatient surgery and not very invasive at all, and that they are using it on upwards of like 95% of their patients they see... So the question is, is it just a fad thing they are using for all epilepsy patients and what can it do for Aiden.. I still don't have a clear answer to this other than it in fact is not meant to be used as a single treatment but in addition to meds or diets ect ... it will most likely not wipe his seizures out completely but could make them less of a burden? the post ictle might be dramatically decreased, so instead of lasting hours it may only last 30 minutes. Having a seizure every other day it may help to decrease the frequency... it may not work for him at all. In that case he has a devise that has been implanted in his body that doesn't do anything and stays there..

Ketogenic Diet.. We do have a referral in place to go talk more with the dietitians that run the keto at OHSU, to get more information as to how it will look for Aiden. There is the possibility to start on the MAD (Modified Atkins Diet)  diet first and see how that goes and if we see an improvement and he does well on it to move to the straight keto diet.. and he doesn't necessarily have to have the feeding tube to be able to be put on the diet. Phewww ( ;p  but it is, and will be A LOT of work on our part. measuring every little thing that we feed him down to grams, having to limit lotions, wipes and everything we put in contact with his body.

So we have not made, or were not forced into making a decision at all. they are going to try to gather more information regarding the vns working on patients that are close in diagnosis or symptoms to Aiden.  And we will do a consultation to talk about the diet and go from there. My fear though in exhausting these options when we are only having a small amount of seizures (compared to what it could be) or waiting until it got worse to try them was listened to and their thought process is to hit it aggressively so that this very important developmental age can be utilized as much as possible and he is not having seizures and having periods where he sleeps so long after and misses out. I completely agree with that standpoint. To also be explained that although it is just 1 seizure or two, that the more seizures you have the more susceptible your brain is to having more.. its a vicious cycle. So for now we up his meds a little more and see if we can bide more time while we way our options on doing the other 2.

Whew ... out of my brain and onto paper!!  Its alot to think about and either way a big choice to make... but thank you to those that are pulling for us and listening to me ramble on about all this!!

Update! 7/23/13

I cant believe I forgot to update after coming home from OMAHA!!! Whew it has been busy since we got back!

So here it goes!

Omaha was just short of perfect and amazing! Thank you first to every single one of you that helped us get there! I am so glad that we had the opportunity and support getting there. It was truly a once in a lifetime experience to see all these kids in person that suffer from what our squishy does. To get to talk to the parents that you have befriended online in person.

There were 7 families in attendance which is amazing! the first day was our conference. They had speakers from the Boston Children s Hospital where most of us belong to their genetic study. There was another doctor from another hospital that wants to elaborate on the study, the Center for rare diseases. It is both sad and amazing to me the lack of study or work being done to not only cure, but to build a better treatment for our children. The CRD said they calculate Ohtahara Syndrome as a 1 in a million possibility! So to have 7 families in attendance was definitely a miracle!!

While there we met a family with a daughter who is a year older than Aiden, and both families were just blown away at the similarities between their daughter Keeley and Aiden. Their daughter tested positive for a specific gene that caused her Ohtahara Syndrome... so this gives us something to work towards looking into with Aiden. It does not give us a cure but we are hoping that it will possibly help in treatment? and since it is a gene that is being looked at by the medical field it is that much closer in Aiden's lifetime to obtaining a better treatment for him.

Aiden was a naughty naughty boy while there we had one of the worst seizure days we have had in a very long time. The nicest part is that it was totally a "normal" for all the people there, they understand without a word being said..That was something I heard over and over the whole weekend, it almost made it feel like everything was normal, talking about seizures, feeding, wheelchairs ..

We got to go to the Omaha Zoo as a group and while there me Mike and Aiden went and saw where they have the collage softball world series. It was just amazing that's the only way I can describe it ! I hope that this becomes something we get to do again and meet more families.

Thank you again everyone for all the help!

Fundraising under way!

So for all squishys followers if you haven't already heard yet on fb, we are doing a Scentsy fundraiser to try to reach a gaol of $500 at least to pay for a plane ticket to Omaha Nebraska the end of June. Why you ask Omaha!? Well that is where the first ever Ohtahara syndrome gathering will take place!

It will not only allow us to meet other families and kids suffering from this horrible syndrome but they also will have a day of gues speakers from many different medical areas. It will give us a chance to meet the dr from Boston children's hospital where we belong to a genetic study being done especially involving Ohtahara syndrome itself... They will hopefully have so e answers regarding what studies have already been done and any results there may be. They will also have a dr that deals with a rare disease database that will be talking with us... An possibly a neurologist ? So it will be a great opportunity for us to get some one on one with some great medical knowledge. This is a once in a lifetime opportunity . My goal is to at least gain the funds to pay for the plane ticket to get there...
In advance I really appreciate everyone's tolerance with our fundraising either with the girls softball or with aiden .. It sucks to have to ask for help!!!

So with that I am placing the first set of orders today if anyone wants to place an order! We get 20% of all sales to help us to get to our goal the link is www.tanamday.scentsy.us and there is a link for squishys fundraiser

Thanks in advance!!


So other than that we had a bout where aiden was having a seizure every day for a solid 4 days... The worst part was there was no evident cause.. He wasn't sick no fever ect.... We ended up contacting the nuro and upping his med back up... It just seems that the one med we were eventually trying to wean, really seems to be working for him and he needed to stay on ... So for now we are again seizure free! I am concerned with his eye sight though .. His eyes seem to twitch around a lot more which then makes it harder for him to concentrate on a specific object. We seem to notice it a lot more at night or when he's tired...

And we have officially got all of his equipment that was ordered!!! It's a miracle! His stander finally came in Friday.. I hate it , it looks like something from Hannibal lecter ... But if it allows my sweet boy to stand and get the benefits from that ... That's what we do...

So  I have had many of you ask about the Ohtahara gathering and what exactly it is for, This will give most of the Ohtahara parents and families the first chance to meet with other parents going throught the same chalenges and treatments, but it will also be a chance to get great information from guest speakers regarding testing and other thing relating to such a rare syndrome. For us and most families out there there has not been given a reason as to why our kids suffer from this horrible syndrome and to be able to get in contact personally with people in the field that are doing testing and different types of treatments is extreamly important.


                    OHTAHARA SYNDROME GATHERING

EVENT DATES: FRIDAY, JUNE 28^TH- SATURDAY, JUNE 29^TH

LOCATION: OMAHA, NEBRASKA

DETAILS:

An event organized by Aarons Ohtahara in honor of the families with children who have Ohtahara Syndrome. 

It is our hope at Aarons Ohtahara that this event will be a memorable, positive, and wonderful experience for the families attending.  This event will allow those attending to meet with other families who share in the experience, tears, frustrations, joys, fears, and love that go along with an Ohtahara Syndrome diagnosis.  It will also be an opportunity for families to meet face to face with medical professionals in the rare disease community that are dedicating their time and careers to not only Ohtahara Syndrome, but also to pediatric epilepsy.  Last year families were given an opportunity to participate in a research project through Boston Childrens Hospital and a team from this research program plans to attend the event, with the hope of sharing information about the research conducted, results, and to be available to answer questions face to face with the families.  Sanford CoRDS (Coordination of Rare Diseases at Sanford) would like to attend and share information about their rare disease registry.  More topics will include the possibility of further research opportunities regarding OS.  An opportunity such as this can really strengthen our community, in research, support, and awareness.

www.ohtahara.org

Frustration and excitment at the same time

Im having one of those frustrated to the point of just wanting to cry kind of days... Its actually been a rough couple days. Aiden has seemed to somehow regress in his head control and that has to be one of the most frustrating feelings. We/he has worked so hard to get to the point where we had decent but by no means perfect head control, which is such a basic thing to most families .. but we are constantly fighting to gain it, and with aidens torticolis it makes it even more important but also hard to obtain. For the last month or so he has seemed to really regress, not holding  his head up and in fact be holding it down on purpose. Ive gone throught the well he was sick, hes trying to get his hands ect and it just hasnt gotten any better regardless what we try... So its like taking god knows how many steps backwards.

To the normal person it dosent seem like such a huge thing ... but you would not believe how much revolves aroung this ...  We just got done at a feeding appointment which was frustrating and exciting all at the same time. They give you the pending loom and doom conversation, but for right now everythings ok and we can start feeding him normal foods pureed!!! But as you get exciting news about being able to progress a little you are also given the speech that as he gets older and his nutricianal needs and his body grows it will just continue to get more unsafe and basically they are preparing us to need to someday go from feeding to tube feeding. Something I want so badly to not have to do because he gets such enjoyment from eating .... But they explain that because he dosent have the head control and his torticolis makes it harder for him to eat normally and his muscles in his mouth are working a lot like his outside body in regards to movement or lack of ...

It just is so frustrating... you work so hard to get to a point in something and usually its celebration that you got to this goal and now you get to move on to a higher goal... you have a sense of accomplishment and it just dosent work like that ... you work so hard and then all work put in dosent make a difference or is lost at a moments notice.... and it effects EVERYTHING.... Uhhhhh pitty party over...

The good news is for now we are able to give him FOOD!! not baby food from a jar but real food :p this has been my goal for so long and for now we have finally reached that point!!! He will still get most of his calories/nutrician from his bottles but i can give him anything as long as it is the consistency that he needs Which is Sooooo very exciting!!! :p

Update 1/16/13

Always behind on my posts but here is our update ;)

Man we have had a busy couple of months again, of course withe the holidays things are always crazy. Aiden had a great 2nd Xmas and new year! Definitely something we never thought we'd get to see once but now twice ;)

The big news if you didn't get a change to see on fb is we finally finally after 10 months and 3 weeks of non stop calls and me having to get angry a couple of times we GOT AIDENS CHAIR!!!! Wahoooo!!! So amazing to be able to take him out and have him be able to be comfortable and be a part of everything happening around him. He really seems to love it and we are slowly starting to get used to it and how it works and getting faster at assembling it. We are however still waiting for aidens stander ... Uhhhh another fight on my hands but until then 1/2 way there!

Aiden is doing pretty well, this last week was rough as he started having an increase in seizures without a huge reason, I believe it to be maby a combination of teething and constipation and so far the last couple of days have been good so I pray that continues. And to just update usually aiden is seizure free and is on 2 seizure meds that seem to really work well for him. I no longer keep track of seizure free stents and just try to enjoy them because it really rocked me when we would have a seizure and ruin our count down ... So now we keep track of seizures and leave it at that.

Tomorrow aiden has an MRI scheduled and mommys a little worried as they have to sedate him for it. He's never been under sedation and I hope he does okay. I also hope that this MRI may show us a reason behind aidens Ohtahara syndrome but I'm not getting my hopes up. I'm at peace not knowing.

We will also in a short amount of time be celebrating aidens 2nd birthday!!!! I am so excited for this new milestone ;)