Saturday, November 16, 2013


I probably wont share this blog post right away...I am not ready too.
Yesterday Jaxson received a new diagnosis and it put me into shock. Apparently I really don't know much about this condition because although its been talked about all through this last year, I thought, "Nah, not him, its something else, he's incredibly social.". I guess I need to educate myself so I can educate others...I know they will feel the same way - "Not Jaxson, it doesn't fit..." But yesterday, a doctor said it does. Luckily I was there through the testing and the doctor talked me through it, what she saw, what was normal, what was not. We get the full results next week. I asked her what her hunch was...I don't know if the test will show her feelings however...We will wait and see.

My heart has been in my throat all night....I don't understand. Am I a hypochondriac or something? How can my child have 4 (that hopefully will be 3 if he out grows his epilepsy) life long conditions that he will always have to struggle with? How can there be 4 different things, not one big thing!? How am I going to help him?! Before you go there, I KNOW how lucky we are. I count my blessings everyday...I am glad hes here with me, struggles and all, but I worry for him, I am sad for his future. Having a child struggle is heartbreaking. He struggled so much in the NICU, I just wish he didn't have to struggle anymore.

Friday, October 18, 2013


So, We have seen genetics. What an intelligent bunch of people!! We don't have any answers but they took a bunch of blood work and our first steps are to check for double chromosomes, issues within the genes, metabolic disorders and a specific mutation to the Rett Syndrome Gene. She said we have many steps to complete, but she felt she could help us. I am hopeful, but it'll be 2- 4 weeks before we get the results, I'll let you all know when we do, and then possibly on to the next step.

In the meantime, more blood work for Jax this am and next week to check his trileptal levels. I'm sick of blood draws and he is too, at least we buy him tons of presents afterwards!

We are going down to Boston on the 2nd for an In hospital long term stay EEG. We will be there for about 4 days. They have also scheduled a LP (spinal tap) on Jaxson. I guess the Neurologist is a little suspicious of something he saw on the MRI, but wants to see what his EEG shows first. Fingers crossed, because the thought of a spinal tap makes me through up literally in my mouth every time I think about it. I use to do it everyday on dogs back when I was working at the neuro clinic, but that really doesn't bring me any comfort at all.

So for my family, I probably wont check in for a while, until we hear something different. If you want to be kept in the loop, or you want to know about Jaxson, please ask me personally and I'll tell you everything. I can't think straight these days...and checking in = support.

Onward and forward, its almost Jaxson's 2nd birthday...Holy Moly!

Monday, October 14, 2013

A little Update

Hello Again, Just checking in.

Jaxson has been having a really hard time these last few weeks. He has been falling a lot and not catching himself again. Like a roller coaster. Last week he had fallen and he caught his fall with his head into the wall and into a wooden crate....followed lots of blood and a very frantic doctor visit! We finally have spoken to the doctors in Boston and he believes its a Atonic/Absence seizure, and he DOUBLED his anti-seizure medication and he requested that we do another In Hospital EEG down in Boston...I'm worried about this, worried about my house, my dogs, doing it alone, finances...But we'll cross those bridges when they get there. I am hoping we are on the right dose now, and we'll stop these seizures in their tracks. So far he has not fallen this week, any more than a typical toddler, so here's hoping!!

He has been having a  hard time with his left side, hand in hand with his falling.... (but we are using Kin so tape to try to correct that placement, though its not working in this picture! We will re-tape with a stronger tension) His brace has been ordered.

His behavior has been extreme, and its been life altering in the fact that we don't go anywhere right now. He is self abusive, obsessive and angry, and doing some pretty scary things...OT/EI/PT have all been helping us, so maybe things will calm down and we'll figure out what he's feeling, and why.

RA blood work came back normal, so this likely means his fevers are caused by a genetic syndrome of some sort. We are going to Genetics on Thursday. Fingers crossed for us!

I will update more after our appointment.

Love you all!

Sunday, October 6, 2013

Bloodwork and finger crossing...

Jaxson's doing pretty well. We had an appointment with Rhuematology to check for Arthritis or other diseases that can cause chronic fever. Jaxson's joints looked very good - he does not have RA! We did some blood work to see if the fever is a "immune" or inflammatory response - if that comes back positive, we're going to have to investigate where in his body there's a problem, if it comes back negative (which I'm almost positive it will) then his fevers are most likely caused by the brain - it could have something to do with the brain damage, but likely nothing we can do to treat, or fix this problem. We will have to look for ways to cope and help Jaxson advocate for himself when he gets older. I always had a feeling that it was something that wouldn't go away. I am hoping when Jaxson is older, he can read his body, know when he's getting dangerously hot, and know how to recover. We'll learn this :) - It could also be a genetic syndrome.

We have genetics on the 17th. I'm more ready for this appointment than we have ever been ready for any other. Lots of blood work but also, answers. If not, we go back to behavioral health.

I feel like Jaxson's lip droop has gotten better, it doesn't glare at us like it use too, but it is still there. Perhaps we're use to it, or its gotten better? We have noticed his fingers on his right hand are starting to cross unintentionally, wierdly, wierd times. His doctors and therapist told me this wasn't a "normal" part of development for this age, and they're not sure what it is..if its part of whats going on developing into something more (like the lip droop) and to monitor it (another watch and wait!). I'm wondering if his trileptal is causing muscle spasms, as suggested on my epilepsy forum.  They've talked to us a lot about mitocondrial disorders...think we're going that route next. Anyway, We are keeping an eye on it...Doesn't look comfortable. He got fitted for his hand brace last week, its going to be an awesome green color! He seemed to be fine with it, I hope it helps him in the long run!

He is also waking up screaming everyday. It seems painful. He's had times like this on and off since being born, but it seems more intense now. He wakes up, smiles at me, then goes to move and just screams...It seems like he's hurting and uncomfortable on and off until his nap...Somedays its heartbreaking. He's a very unhappy kiddo right now...hard to say, but he is. I don't know if its pain, or behavioral, or a mixture of everything he's dealing with right now. He's angry, frustrated, and I can just see it in everything he does. Seems like we've been focusing on him constantly to get his mind off the pain/frustration and on to something fun and nothing works for long, its been exhausting! Hopefully we'll get somewhere.

We should get the results of the RA bloodwork this week. I'll update everyone when I know more.
Sending love <3

Tuesday, September 24, 2013

Its working!!!

Hello All,
Been a while since my last update, a lot of things have happened...

We have a rheumatology appointment set for October 1st, followed by Genetics October 17th. So very happy to get these specialists on our team... I think genetics is the big step in the right direction for us.

Jaxson's on his highest dose of Trileptal, and he's still on Keppra...He's been falling still, but not at as much. His lip droop is still there but its not any worse at all, its mild and is only noticeable when he opens his mouth or smiles a certain way. His protective reflex is the same - still not  really there, but he is using some safety  I'm glad its not getting any worse so far!! His fevers are the same, despite the environment cooling down a bit...but hopefully we wont see anymore high 104's before we figure this all out!

On an amazing note, I do believe Jaxson's seizure medications are helping. I am no longer seeing starring spells, though I did see one yesterday but it was so short...I think it was more tuning out honestly...and the best thing is - he's starting to be more vocal!! He's making a lot of noses, different syllables.... Though we're not hearing anything "consistent" yet other than "sit", our speech therapist cried this morning and hugged me and said, " Im so excited, I just hope these noises turn into words and I really hope they stay... My fingers are crossed" and mine are too...Regression has been one of his biggest problems. Recently - He has regressed his skills with how he holds his crayons and "colors" as per OT, and he's regressed in some signs this week - However, that could just be because he's being more vocal than before!

He's doing really well and I'm over the moon with all these accomplishments. I have no doubt in my mind that these medications are helping him...and I'm just so happy.

Thursday, September 19, 2013

Blood Work, Blood Work and More Bloodwork

We are off early to the lab this morning before Jax gets his trileptal. Dr's in Boston are very concerned of the new development and want to check the levels in his blood before dong anything further. Checking many different things along with Liver functions. I don't know what this means as far as his facial droop...I'm just sick of blood draws...We have them all the time and I know its only going to get worse when we hit genetics. He's doing great though, no better but no worse....He lights up my world with his smile, I couldn't imagine loving anything more.

Josh isn't with us today and I'm starting to feel the weight of this....

Wednesday, September 18, 2013

Starting to get a little crazy again...

So...We're kind of in the same spot since my last blog post but I feel like I should update on somethings, since I'm having a hard time and its coming through in my blog posts...

The last weeks have been kind of scary. 1 week ago we rushed Jaxson into the emergency room - He made a wierd noise in his sleep,  he was having trouble breathing and his heart rate was 200bpm. He was twitching (not tremoring) and his temperature had risen to 104. By the time we got to the hospital, all but his temp were normal and they were wondering if he had a different kind of seizure since he was not very aware when I took his temp at home and took his vitals...(I do get to use my vet tech skills as a mom!)

Jokes aside, Jaxson has been falling flat on his face and he has not tried to catch himself for the last 5 days. Although some days he has trouble and he falls, he usually can always catch himself -This is called your protective response reflex, but this is so different. One day he was standing in the middle of the floor with his teddy bear and then he just fell head first into the floor, like something had pushed him. He was aware, so I don't know if this was seizure like activity but it seems convincing considering the previous episode. He has proceeded to toppling off the couch onto his face, Bruises and 2 bloody noses later...It just hasn't stopped.... Temperatures are slightly higher than normal, around the high 101's.

Yesterday at PT, our therapist pointed out that she thought he had slight facial drooping on the left side of his mouth. Though I looked when she told me, I hadn't noticed it, and felt it was really minor, maybe it was always there and we never noticed? We kept an eye on him, but when we woke up this morning, It was far more pronounced. Although it is mild, he has a top lip droop - mostly visible when he smiles or opens his mouth. He does not have a droop with any other part of his face, and in fact his left sided weakness activities were amazing at PT yesterday.            

 So luckily -We had an appointment with our Pedi this morning .We recently (4 days ago) started a new anti seizure medication for his falling and the spell that happened on Sunday in hopes that we can get Jaxson on a more tolerated medicine and dose and see if this this be a result of the seizures? its possible. However, Our doctor feels like this is most likely "whatever is going on with jaxson" neurologically is progressing. The part of the brain which controls the cranial nerve that would effect just the top lip is such a tiny small spot, so its unlikely the new medication would be cause for this - however we do have a phone call into Boston right now.... We had no closure answers but 1,000 more questions.. as always! They have been discussing another MRI, I really hope we don't have to do that again. looks like things are progressing, and its just scary - How far will this progress? What else will be effected? Will the facial paralysis stop here? go away?....So I'm a little worried...Okay, A LOT worried!

(On a back note we got a referral for Genetics and Rheumatology ASAP)