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!
Monday, July 20, 2009
Episodic Ataxia Type 2
Posted by stephanietworek at 11:55 AM
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13 comments:
Hi,
My name is Michel Beaudet, I'm 47, have FA and live in Quebec, Canada.
I'm sending this message to invite people to join a list for those with ataxia. The list is called Internaf and
there's also a website full of info at http://internaf.org
International Network of Ataxia Friends is a mailing list for ataxia patients and family which serves as a support group and information exchange vehicle. There are currently over 680 subscribers from more than 40 countries worldwide.
Subscriptions to INTERNAF is free.
For info on how to subscribe, go see, http://internaf.org/network/services.html or
for email only access click here and send: internaf-subscribe@yahoogroups.com or
for full yahoogroups features access go to http://groups.yahoo.com/group/internaf/join
Here is also another group of interest:
FAPG, Friedreich Ataxia Parent Group. go see http://www.fortnet.org/fapg/ (not only FA)
Bye
ps: Don't hesitate to email me if you have questions about internaf
--
Michel Beaudet
michel.beaudet@videotron.ca
Internaf - INTERnational Network of Ataxia Friends
http://pages.infinit.net/macmike
http://groups.yahoo.com/group/internaf
http://www.internaf.org
Stephanie,
Thanks for the update. I'm sorry to hear things are so worrisome for you and Ben! I loved reading all about the things Natalie likes to do. I took the Boogedy to a Pioneer Activity place here in SLC, and all the kids wanted to wash laundry on the washboards and hang it to dry. My little guy just wanted to ride the train around the pond over and over and over.
Sara Moses in SLC
YAY!!! You updated your blog! It seems things are a little stressful but you also have good news in there and lots to be thankful for! I love the story about your Dad sneaking in through the kitchen to catch his breath before Natalie sees him - too cute!
My Daughter was tested genetically and found to have EA2 two years ago. She is now 16, it took 13 yrs to get diagnosed. She also has atrophy of the vermis, scoliosis, and flat feet. Her speech is sometimes slightly slurred. Tired is a MAJOR trigger. And heat, too much sun...too much walking...not enough to eat...stress, as well. I wish someone had been able to give me a heads up but no one could, it was too new. My Daughter was the first to get an EA2 diagnosis from Children's Hospital of Eastern Ontario because it is just so rare...or under diagnosed, maybe. Here is a link to a great forum. And if anyone has questions about this illness that I could answer from a caretakers point of view, my email is citywide.demo@gmail.com, I'd be happy to help. I know how scary and alone one can feel with this diagnosis. Take Care...penny
Ataxia forum > http://www.ataxia.org/forum/toast.asp?sub=show&action=posts&fid=6&tid=7577
Hi my name is Marika and I also have episodic ataxia type 2 and was mis diagnosed with seizures I just recently got mt right diagnosis. I just attended the ataxia conference and it was great, but I was the only one attending with my type of ataxia.
I didn't even know there was an ataxia confrence :)
hello stephanie,
My name is stephanie also and i have a little girl that was given the offical diagnosis of episodic ataxia type 2 two days ago. She sounds so much like your little girl. She loves cats and to ride horses. She is speech delayed. She didnt walk until right at 15 months. She even squints like your little girl for pictures. Funny... Any way I know your little girl was diagnosed in 2009. Just wondering if you all have found anything else or how things are going.
Hello Stephanie!
We are still taking it day by day. We are trying to find the right amount of Acetazolamide for her to take. I keep going back and forth trying to decide if its worth it to put her on it. The main side effect that concerns me is loss of appetite. Since she is so little I worry when she does not eat.
How old is your daughter? I never update this blog like I should. I should post some new pics. She is going to be 4 at the end of this month!
Hi Stephanie ,
I have EA2. You can see my website at www.episodicataxia.org
Mark
You're not alone. I also suffer from EA2. It's a daily struggle
You're not alone. I also suffer from EA2. It's a daily struggle
We have actually gotten two new diagnosis since this blog post. This is fairly old. The first one was PKND which we have recently found out was a symptom of Glut 1 transporter dyfincancy. We are in the process of getting her tested for that. However her father and half sister have both been diagnosed with Glut 1 so we are fairly confident that's what she has. And yes, she does struggle everyday, but she is never discouraged ��
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