Aturtle…actually I was always impressed by the name you chose, I feel I’ve become very slow from when I have started having EA2 symptoms. Yes, in Italy I was diagnosed with EA2, but the doctor said it was useless to have a genetic test because as Lori said there are so many different types that it’s not certain that the test would turn out positive. I don’t know what to say, really. What are your symptoms? My ataxia is really “episodic” when I am in one of the episodes I am unable to do absolutely anything, I feel very dizzy and extremely tired, the muscles of my back heart and my head too, my limbs start tingling etc. but I manage to get episodes because I take Diamox tablets, or else I would probably would be unable to do anything, it would not only be so episodic…Recently I thought the Diamox was not working anymore, but then here I am in “normal mode” again…well kind of normal…It’s crazy!!
Thank you for your reply. My episodes sound just like yours. Am find the Diamox is starting to work. Episodes not so intense and not daily or multi times a day. I am in a "normal mode" myself now. Hope it lasts. Just unsteady when I first get up in the morning. Glad to hear your doc it would be useless to have the genetic testing. I will not do it if I have to pay out of pocket. It is still in the possibility stage.
Thank you.
boat2011 said:
Aturtle...actually I was always impressed by the name you chose, I feel I've become very slow from when I have started having EA2 symptoms. Yes, in Italy I was diagnosed with EA2, but the doctor said it was useless to have a genetic test because as Lori said there are so many different types that it's not certain that the test would turn out positive. I don't know what to say, really. What are your symptoms? My ataxia is really "episodic" when I am in one of the episodes I am unable to do absolutely anything, I feel very dizzy and extremely tired, the muscles of my back heart and my head too, my limbs start tingling etc. but I manage to get episodes because I take Diamox tablets, or else I would probably would be unable to do anything, it would not only be so episodic....Recently I thought the Diamox was not working anymore, but then here I am in "normal mode" again...well kind of normal...It's crazy!!
Yes aturtle, I am unsteady always when I get up in the morning in spite of the Diamox, even when I am in my normal mode. My episodes may last hours or days but I have long periods where I am practically ok. It’s important for me to have found you and the others with EA2…I am new to this forum.
Aturtle and boat2011
What does Diamox do for you?
Lori
Hi! I also wonder what specific difference it makes. I often feel that if I could just get rid
of a 'foggy head' it would be a major step forward, forgive the pun!
Lori said:
Aturtle and boat2011
What does Diamox do for you?
Lori
I too a new to this forum. So happy I found it. I agree with you happy to find others with the same condition it really helps to talk to others. Thank you for replying
I just went on diamond last week. So am very new to it. So far it has helped with the intensively of my episodes. And, I am seeing them reducing in frequency. I was getting then multiple times a day. Now about every other day. Hopefully as the dosage goes up they will get reduced even more. So far for the week I have been on diamox I am feeling better. Fingers crossed. 
Beryl Park said:
Hi! I also wonder what specific difference it makes. I often feel that if I could just get rid
of a ‘foggy head’ it would be a major step forward, forgive the pun!
Lori said:Aturtle and boat2011
What does Diamox do for you?
Lori
I don't get episodes. My ataxia is always there. Does it help with balance?
Hi Ed:
I have had 9 MRI's. No one mentioned EA2 from the MRI's they were mostly looking for MS and trying to find out if I had strokes.
No one in my family have the same problems that I do. But, my father did very young, 53, mother at 77 and none of their siblings have had Ataxia symptoms, They are all deceased also.
I have to say the Diamox is helping me and have only been on it 1 week. The dosage goes up tomorrow. Thanks for reaing and replying to my post.
aturtle2 said:
Thank you Ed for the link.
No other family members have or had my symptoms. Both parents are gone as their siblings. I have had 7 MRI's and 2 MRA's plus Cat scan. My diagnosis from Mayo was basal migraines and CSD (chronic subjective dizziness). Yesterday I was very impressed with the doctor I saw yesterday. He is pretty certain of the EA2 diagnosis. I am starting Diamox today. Hopefully this will help. Until they can give me a concrete reason for the genetic testing other than confirming the diagnosis I don't think I will pay that type of money for piece of mind.
Appreciate all you advise.
EdMoose said:
Hi
Do either parent have Ataxia? EA2 is inherited in an autosomal dominant manner. Most individuals with a diagnosis of EA2 have an affected parent. Offspring of affected individuals have a 50% chance of inheriting the disease-causing gene mutation. The diagnosis of EA2 is most commonly made on clinical grounds. MRI can demonstrate atrophy of the cerebellar vermis. So it might be wiser to have an MRI instead of genetic test. Link to MIH http://www.ncbi.nlm.nih.gov/books/NBK1501/
Lori
The diamox has helped reduce the frequency of my episodes. I was getting them daily and multi times a day. Must say I I have had only a coupl of episodes since starting the Diamox. Have you tried this drug for your symptoms?
aturtle2 said:
I just went on diamond last week. So am very new to it. So far it has helped with the intensively of my episodes. And, I am seeing them reducing in frequency. I was getting then multiple times a day. Now about every other day. Hopefully as the dosage goes up they will get reduced even more. So far for the week I have been on diamox I am feeling better. Fingers crossed. ;-)
Beryl Park said:Hi! I also wonder what specific difference it makes. I often feel that if I could just get rid
of a 'foggy head' it would be a major step forward, forgive the pun!
Lori said:Aturtle and boat2011
What does Diamox do for you?
Lori
aturtle2
No I have not tried it. What are your episodes? I am interested in seeing if it is something that would help me. But I dont know what your episodes are.
Lori
aturtle2 said:
Lori
The diamox has helped reduce the frequency of my episodes. I was getting them daily and multi times a day. Must say I I have had only a coupl of episodes since starting the Diamox. Have you tried this drug for your symptoms?
aturtle2 said:I just went on diamond last week. So am very new to it. So far it has helped with the intensively of my episodes. And, I am seeing them reducing in frequency. I was getting then multiple times a day. Now about every other day. Hopefully as the dosage goes up they will get reduced even more. So far for the week I have been on diamox I am feeling better. Fingers crossed. ;-)
Beryl Park said:Hi! I also wonder what specific difference it makes. I often feel that if I could just get rid
of a 'foggy head' it would be a major step forward, forgive the pun!
Lori said:Aturtle and boat2011
What does Diamox do for you?
Lori
I'm not clear what 'episodes' are. Sometimes my balance, clumsyness, concentration etc
is worse, this can change during the day, occasionally lasting several days. Is it this sort
of thing that is referred to as 'episodes'?
Yes exactly only my episodes come and go. Last about 30 to 45 minutes.
Beryl Park said:
I'm not clear what 'episodes' are. Sometimes my balance, clumsyness, concentration etc
is worse, this can change during the day, occasionally lasting several days. Is it this sort
of thing that is referred to as 'episodes'?
Was Diamox prescribed by your primary care giver/family doctor, or did you have to see
your Neurologist for it?
Hi I sent you a message on the instant chat lst time for me too.
I got the prescription for Diamox from my neurologist. It is helping.
Beryl Park said:
Was Diamox prescribed by your primary care giver/family doctor, or did you have to see
your Neurologist for it?
Hi Beryl
'I called my Neurologist today about the pill Diamox. And she said people who gets Ataxia that comes and goes it helps it not to come. But since my ataxia is always. No breaks. It will not help me at all.
Lori
aturtle2 said:
Hi I sent you a message on the instant chat lst time for me too.
I got the prescription for Diamox from my neurologist. It is helping.
Beryl Park said:Was Diamox prescribed by your primary care giver/family doctor, or did you have to see
your Neurologist for it?
I missed you these days. I was not on the site. Yes Diamox helps those with Episodic Ataxia type 2 like me and aturtle. It helps with the symptoms.
Hi All!
I hope everybody is having a good day!
Thank you all for info. I expect to visit our local Ataxia Centre soon and will ask about a prescription.
xBeryl
Hi, I'm in the UK and luckily my Consultants are conducting genetic tests on my blood, however he also said that they only know around 40% of the genes responsible so you could end up paying a fortune for nothing.
Deb
My argument is why do you want to know (perhaps)
You either have ataxia or not
And
There is no cure!
Why get so motivated as to the cause?
Regards
Barney