After 19 months of waiting my genetic tests for episodic ataxia 2 have come back negative i dont know what to think now. I was diagnosed with episodic ataxia 2 last year and started on diamox which has helped alot . I will be seeing my neuro in 2 weeks to discuss all this . In one way im happy that they are negative but on the other hand if they were positive it would have kind of proven the diagnosis. I feel i really eed an answer to what has caused all this to move on with my life.
Yes, I know how it sucks not to have a diagnosis. It is like you are left twisting in the breeze with no clear road for treatment. However, the drug that you mentioned did help, so perhaps that is a piece of the puzzle. I would do some googling and find other diseases, probably ones that are auto-immune due to the off again on again nature of it and just do not give up. Finding the diagnosis is probably one of the most difficult and productive things you can do. Start writing down symptoms when they occur so that you do not forget. Every bit of info is a puzzle piece and will help to complete the picture.Good luck, do not give up!-Randall
two good things, 1) Good if it is NOT heriditary,especially if you have kids or even plan to have them. 2) There is something you have taken that helps you. Diagnoses does not change that. Believe me, life goes on with or without a diagnoses and generally it is just something we live with (or in spite of), Count your blessings. (Sometimes need to take my own advice in this department.)
Dear Maria, I have Sporadic Cerebellar Ataxia (idiopathic), and have no idea why. Several years ago I had genetic testing for the known recessive ataxia's, which was negative. I haven't had genetic testing for the known dominant types of ataxia, as my neurologist says the percentage of anything showing up positive is extremely low. No one in my family, as far back as we know has/had ataxia except me! Yes, I wish I knew "why" even though nothing can be done. Also, my neurologist thinks all ataxia's are hereditary, but that many genes have not been identified yet. Therefore, try to accept the fact that you may never know, even though it's difficult! If Diamox works for you, it may be Episodic (in spite of the negative results of your genetic testing), as I've read that's the drug of choice. My best to you ;o)
Good to know....What is Diamox? I just hate when my family says it is my fault, and I have no support, but also at the same time, I don't want to pass it on to my 2 grandchildren.
Hi,
I'm in the same boat as you, I've been waiting for my results for around a year now. I have to assume they are all negative as they told me they would contact me should they find anything.
But the consultant informed me that they are only aware of a handful of genes at the moment and that it could take a lifetime or longer before they can say they can confirm a diagnosis of EA`2 only by genetic testing.
He stated that they diagnose on our symptoms and reaction to Diamox. It works well with EA2 and if we show an improvement while taking it, that together with our symptoms which will be well documented by they time we get to see a consultant they can diagnose it.
Lets hope what I have been told and what they say to you in a few weeks is the same and we can be happy what we have is not genetic but could be acquired EA2 and Diamox works.
I'll be waiting with baited breath to see what they tell you, good luck.
I am sorry you have to go with unanswered questions. I’m also in a similar predicament. My Neuro suspects EA2. I’ve had successful treatment with Diamox for the last several months, but side effects have set me back some. My Neuro wanted me to have the genetic testing done but I keep hearing stories similar to yours in that the questions go unanswered. I think at this point I don’t want to invest the time and money to do that. But, I also am having a very difficult time living without a positive diagnosis. Not knowing if my children will get it, etc. Doctors tell me to not focus on it, but I think it IS very hard to move on without it. Please share, if you are willing, how your next appointment goes. I’ll be hoping for the best!
Thank you all for the replies and support.x My appointment is on the 29th of sept so i will let you all know how it goes.
I have two children a 7 yeaar old boy and 4 year old girl. My son has been getting headaches and presumed motor tics for the past year he is currently under investigation for ? developmental coordination disorder. His symptoms are poor concentration, headaches , eye tics, poor fine motor skills, and all these symptoms come and go. I am more worried about him getting the wrong diagnosis than myself, i try not to compare my symptoms with his but its hard not to. But yes i am glad they are negative. Its just that the neuro told me he was 99% positive i have ea2, but i also agree that negative tests do not mean i do not have it. i cannot wait to see what he says , will keep all posted. Thanks again.
Geeze. I am in a similar boat. I have a mutation in SIL1. It is "recognized" to cause the ataxia symptoms, but they are those relating to puberty and I am 80, with grown children. Go figure. If you are rather young and the problems are recurring in nature, that might point toward MS. Just an idle unsubstantiated thought. Good lucck in any event. -silky
thanks. have been tested for ms, had normal lp and mri. But i also had an abnormal eeg so based on all that and my symptoms he thinks it is some sort of genetic ataxia. I will find out tomorrow as i am seeing my neuro then!
Silkybill said:
Geeze. I am in a similar boat. I have a mutation in SIL1. It is "recognized" to cause the ataxia symptoms, but they are those relating to puberty and I am 80, with grown children. Go figure. If you are rather young and the problems are recurring in nature, that might point toward MS. Just an idle unsubstantiated thought. Good lucck in any event. -silky