I'm new to this forum, but so glad that I have found it. My daughter is 4 years old and has been diagnosed with EA2.
Her journey began at birth, with a head tilt but we knew for sure that something was not right when she starting missing milestones at 6 months of age. It has taken us 4 years of diagnostic testing to finially arrive at the diagnosis, and her neuromuscular specialist describes her defect as being on the same gene as EA2 but not being 100% the same.
She is currently in her first year of school, but is not able to walk and does not talk. She uses sign language to communicate but it only gets her so far since there are so few people that understand it. What pains me the most to watch her go through this, is that she seems to be completely able to understand everything around her, and on testing seems to be right on track with her peers. It is a blessing I know, but must be horrible for her to have all these thoughts and be unable to express them with the people around her.
I was hoping to meet some people who have had EA2 since they were very young, and to be able to get some idea of what she may be experiencing since she cannot communicate it to me. What can I do to help or ease her symptoms? She does seem to be more ataxic when tired, but otherwise does not have the "classical" episodes of ataxia that I have read about. Does anyone else have difficulty with speech, and if so is it a physical problem in sounding the words? Am I likely to see this improve with time, or will she continue to have issues communicating her entire life?
Can anyone describe what it was like growing up with EA2?
Hi Proud mom, and a warm welcome to the site!
I can't imagine how heartbreaking this is for you, your little girl is so brave
There must be lots of people here who can offer advice re EA2, best wishes. xB
Thanks for the information, I'm sure it can be tough to talk about symptoms. Brooke does have a speech therapist and is currently being assessed for possible technologies that can help her to communicate with us. My question is about her speech itself. When you are having an attack, is it more that you cannot move the muscles of your mouth to form words properly that causes the slurring, or do you feel it is more of a brain not processing things properly? Brooke seemed to babble a lot as a baby, and then around the 8 month mark it just stopped. She will "say" mama and da, but that is all she says. Otherwise, any vocalizations are more grunts. She just doesn't seem to even want to try to enunciate or make new sounds. I wonder if the facial muscles are involved and it is difficult for her to actually try to make those sounds....
We have tried the acetazolamide but no one in the family really thought there was any change in the ataxia for Brooke. She is a bit atypical in that she seems to be ataxic 100% of the time, with some periods being more severe than others (ie. when she is tired). We are currently trying gabapentin but the medication is horrible tasting as a liquid and we cannot get her to take it via pills due to her age. We are currently at 2/3 of her actual dose but have not noticed any real improvements. Any other medications that seem to work for anyone?
Her defect has actually been linked to the same gene that causes EA2 and SC6, but apparently the actual defect is not exactly the same as either disease. She does not fit either disease description perfectly, but has clinical signs that span both. Our neuromuscular specialist told us at our last visit that as far as he is aware, her defect is unique and has not been diagnosed previously (or at least described in the literature).
hi proud mum,i have EA2 and had my first symptom at 10yrs old.im now 52.although I wasn't diagnosed with ea2 until about 30...when I was younger I just presumed I had really bad migraines...It came as a relief to finally get a diagnosis of ea2.during an attack I get all the classic ataxia symptoms of loss of balance,co-ordination and speech,and different symptoms also.such as nausea,vertigo,double vision etc...during a major attack I will get all of these,although every attack can be different than the last one....this morning I had just a mild attack,with my speech becoming slurred.i take acetazolamide(Diamox),which is helpful most of the time...one thing I find is that excitement can trigger an attack...so I would say,try to not let your daughter get too tired or excited most of the time...also stress is another major hurdle for all ataxians,not just ea2....when I was at school,i missed lots of lessons coz of the ea2.....I was always dizzy or vomiting....a lot of ea2 depends on finding the right medication for your daughter......if Diamox doesn't work there are lots of different drugs to try....mayb a speech therapist might be able to help with the communicating side of things.....I know when I have the speech slurred,all I can do is wait till it passes off....which can take several hours....I hope this all helps........firefox...
Dear Proud Mom, A HUGE welcome to this site! Bless you and your daughter! You sound like a very loving and caring mom, and your daughter sounds like a real trooper! Remember, children are very resilient and will find a way to handle whatever comes there way! This site has wonderful people for support and understanding. Although I don't have EA2, there are many people on this site that do and can offer advice. I have Sporadic Cerebellar Ataxia (non-hereditary/unknown cause), but wasn't diagnosed until I was 49 (10 years ago). It effects my gait/balance, dexterity, speech (slurred) and swallowing. For me, my speech is effected due to incoordination of the muscles (like the rest of my body). This is due to the atrophy in the cerebellum, which is the coordination part of the brain, among other things. I just wanted you to know you and your daughter are not alone in your journey! ;o)
Hi Proud mum and welcome to this lovely community. I have gluten ataxia, when glutened I slur my words really badly and stutter. I think it's something to do with a co-ordination of the facial muscles as I know what I want to say but I can't get it out right. It comes out as gobbledegook!! Hopefully there won't be another episode of being glutened, but if there is it will be something I do pay more attention to.
Hi Proud Mom - Welcome.
Although I don’t know the official type of ataxia that I have, I had and still have speech issues.
I went through 7+ speech therapists - which was and still is a lot of work to speak; however, I came from a place of using a communication board. I know how frustrating that was - so no complaints here.
My speech gets very sloppy the more tired I get; and, this probably sounds very basic, I still need to remind myself to breathe in on the inhale and exhale as I speak. And to speak slowly.
In addition to Sign Language, a lady in one of my speech groups - training for Speech Therapist Students - used a computer to express herself; and this one guy used index cards with common greetings, questions, etc.
Also, you might search for more on this discussion topic, up by the “Sign In” link.
Yes, Glitter on Butterflies, I slur my speech more when tired, like at the end of the day, or if I've been talking a long time... ;o)
My son had the same exact head tilt when he was born. He just turned three, and he can run, walk etc… He has been in physical therapy since 8 months old because of the head tilt and a bit of Hypotonia. He attends regular nursery right now.
I see that he is amore ataxic when tired as well. We visited the neurologist and she doesn’t think he needs medication right now. Is your daughter on medication? My son does have a bit of fine motor delay( including language) he is able to speak complete sentences but has trouble with the correct pronunciation. He will get an evaluation this week with a speech therapist. I really hope this gets better for all of our kiddos.
Sending you hugs!
Sorry I just saw this was posted November 2013. How is your daughter doing now? Do you feel the ataxia has progressed or gotten better?