Briar's Story - Episodic Ataxia - Boys Town National Research Hospital
She was about a year and a half almost when they started happening. She had a first episode when she came out of a nap. We were spending time as a family and she couldn't walk down the hallway, so red flags went up as a parent. When she's having an episode, she pretty much had this wide gate walk where she's like stumbling. It's kind of like you've been on a tilt-a-whirl kind of thing and you get off and you're dizzy and you're just walking odd kind of thing, like that's how she would look and she would slam her body to the ground and start crying because she didn't understand what was going on.
I just had heard good things about Boys Town so i decided I wasn't even gonna wait for the referral. I called the office myself and just explained the situation and they asked me to have the record sent over and that's when we started getting assigned with Dr. Lulla.
Briar was diagnosed with a condition called episodic ataxia.
Episodic ataxia is basically a group of related genetic inherited disorders. It causes problems with a person's balance and coordination. Typically these episodes can last anywhere from a few minutes, to a few hours to even a few days. Unfortunately there is no cure for episodic ataxia, but we do have medications that can either help reduce the frequency of the attacks or completely prevent the patient from having an attack. It lessens the symptoms and sometimes it can lessen them to the point where you can't really tell that there's an episode taking place. It's been complete turnaround so she's been on the treatment, I feel like for six or seven months and we've had two episodes.
These attacks that happen in episodic ataxia, they can sometimes look like as if a person is having a panic attack or an anxiety attack.
When I first experienced it years ago, I'd get dizzy, lightheaded, my coordination would be unbalanced, sometimes I'd have double vision, couldn't walk straight. I could just be doing yard work at home and all of a sudden I would have to go sit down, lay down. I didn't know what it was.
I decided to test the father, too. I thought this could potentially be an inherited genetic condition, so I did send genetic testing for the same gene that Briar tested positive for.
So after getting on the medication that he prescribed me, and that's been going on for about six months, seven months or so, I've only had one incident and I used to have about two or three a week. I'm relieved because we never even heard of it. After talking to Dr. Lulla and he explained to us how he specializes in a lot of these neurological issues, with not only children but adults too, yeah I kind of walked out of his office with a smile. I'm like, oh thank god. I think it's a big sigh of relief for our families to just have an answer for a rare condition, for which they were seeing multiple specialists. This puts an end to their long diagnostic journey. Dr. Lulla was really understanding. The very initial visit I had with him I spent an hour and a half with him, where he went through the whole history with me. I had his doctor's number so if she was in an episode, do a video chat and to see physically what was going on at the household. So he just went above and beyond with being able to support us.
Even though she has to take medication every day, my hope for any parent with their child is to grow up and keep these episodes under control. She likes Dr. Lulla, especially if you like, laughs, smiles tries to do something to get her to laugh and when he calls, I'll be like Dr. Lulla's on the phone, she'll be like "my Dr. Lulla?" She pretty much claims its her Dr. Lulla.