Episodic Ataxia Type 2

I know I have not posted in a very long time. Its horrible. But I guess Ive been too busy with life to blog about life.

In recent news: Natalie went in for a check up with Dr Benko who is her neurologist. He watched new video of her seizures and he came up with a new 'working diagnosis' of Episodic Ataxia Type 2. From the research I have done this is a pretty rare disorder less then 150,000 people in the united states suffer from this. It is actually a gene mutation that occurs in the cerebellum. It is a neurological disorder and the likelihood of a parent passing it on to the child is 50%. The 'attacks' can be brought on by stress, fatigue, caffeine, and alcohol. So this explains why Natalie has seizures at the end of the day, she is tired. She also had chocolate or caffeine before an attack. So no more chocolate or caffeine for her. Poor baby. These attacks can last anywhere between 20 mins to several days.

The good news is that when she has one of these attacks it is not causing any brain damage. She also no longer has the label of having epilepsy. So hopefully she wont have as many restrictions on her as Ben has had. She has also been taken off Keppra completely and she is doing very well and learning new things everyday. Dr Benko did want to put her on another medication. We tried it for a few days but the side effects were horrible. I had to make a decision as her mother to take her off it. The benefits just didn't out weigh the risks.

So now that she is off that medication she is all back to normal now. We may try it again in the future but she is just to little right now. The Dr did say that there is a genetic test we can get done to know for 100% assuredly that she has Episodic Ataxia type 2. I am planning on getting that done very soon.

Her speech therapist is still working with her to say new words so far I think the newest words are 'Juice' miey (for missy) weetie (for sweetie) min (for cinnamon) she says cheese, and mommy, daddy, na na, bop bop (for pop pop) goggy (for uncle tommy) meow (for cat) neh neh (for horse) NO ( for just about everything) uh huh (for any question we ask her) Oh man, Oh no!

And I swear her first sentence is 'oh no mommy!' That is 3 freaking words people!

She loves to carry her purse to and from the car. She grabs her purse and says 'Bye bye' and walks towards the front door. She loves cats and she always wants us to draw cats on her magnadoodle. She loves to RIDE! I take her horseback riding about once or twice a week and she LOVES it. She gets really upset if I ride without her. She also has a mini tantrum when its time to get off the horse. So I try to distract her by feeding the horses treats. She loves doing that too. We usually just walk around the arena but I decided we would try and trot and Natalie had a blast! She was giggling the whole time. She loves to hold the reins so I usually have to steer with my legs to keep the horse going the right way. I look down and ask her "Do you got your reins Nat?" Then she grabs them up. She gets jealous when we go watch Tommy do Team Penning and she can't ride. She pouts the whole time. I think I have a little cowgirl on my hands.

Na NA and Pop Pop spoil her rotten. She has got them wrapped around her finger. Pop pop has started coming in the kitchen door when he gets home to avoid Natalie so he can at least get in the door and change his clothes before she demands to be held so she can squeeze his ear.

Ben starts school Aug 31st. Its very scary and exciting at the same time. Pray for him. He needs it.

And what about little ole me? Well not much. Natalie keeps me busy with Speech therapy, Physical therapy, constant Dr appointments, and documenting all her seizures and medication intake. Then we have fun stuff we do like painting and playing with her toys.

I'm getting back into horses since Mom and Tommy have 3 horses now. I borrowed a English saddle from my old teacher. I really hate western saddles. So thats my hobby that keeps me sane. Everybody needs a hobby :)


Natalie at the Hands on Museum in Gettysburg. She was a pioneer girl! Ya'all come in for dinner now!




Natalie liked doing laundry civil war style. She likes doing laundry 21st century style too!