Hi all , i said id let u all know how my appointment went. The genetic tests came back negative, in that they could not find the gene responsible for my episodic ataxia. The neurologist said that based on my symptoms which are.. Nystagmus, vertigo, migraines, loss of balance, muscle weaakness at times, slurred speech at timesand so on that he still is adament that i have episodic ataxia type 2 and that on this occasion they did not find the wrong mutation in the gene responsible. He did add that he could not diagnose me 100% as he has no genetic proof. But he says i am diagnosed on clinical grounds. He said i could spend my life repeating genetic tests but what would be the point as he knows and i know what i have and the diamox works so that kind of confirmed it. He advised me to return to work(i am a nurse) and get on with my life.He can offer me no further treatment in ireland but did tell me to think about going to the uk to a channelopathy specialist ... i have refused for now as mentally i cannot take anymore. I explained to him that it is for the sake of my children that i would like to know the gene as my son 7 also gets headaches and has other issues and my daughter 4 has an intermittent eye roll/squint and is waiting assessment. I am also aware that these could just be normal childhood things but with my history i cant help but think what the future holds for them . So basically he does not want to see me again. So off i go back to work in jan however long it will last! under the care of nobody with a rare disease nobody understands! sorry about the long post, i really am not feeling sorry for myself i am just so frustrated with the lack of support! take care.x o just to ad i asked him could i pass this on and he said i could.
Tests done Mri ..... normal
EEG showing intermittent disturbance similar to someone with a history of epilepsy who is in between seizures...I have not gor epilepsy and have never had a seizure.
This is so sad and frustrating!
I can only agree with Allie ! So sorry you do not have any answer.
I have a rare disease called " long QT syndrome " and I was part of a research study in the early nineties. The faulty gene was discovered. I wanted my children tested too and it took two years to get the results for them… May be you could still get your children in a study and hopefully, in the near future, you will have some answers… Have you talked to a genetics counsellor? They might be able to help you witth the implications of your situation.
It is always a good idea to try to be part of a study, because even if you do not get the expected results, it does help the research…
My very best to you and your family.
I am in a similar boat! My ataxia specialist says that my history and previous tests are consistent with EA1, but to diagnose me he needs to see me during an attack. He asked my wife to record me walking while I have an attack. She is computer phobic and will not do it. There is nobody else who would be with me at all times. So I am stuck with nowhere to go.
Dear Maria, I know ataxia is frustrating and challenging, as I was diagnosed eleven years ago with Sporadic Cerebellar Ataxia (idiopathic/unknown cause). I have my symptoms 24/7 and have no idea why I have this, as no one in my family, as far back as we know, has/had ataxia, except me! I do see a neurologist every six months. Although there's no "cure" I feel better being monitered by a doctor, as my ataxia has progressed. Try to find comfort in the fact that you're not alone in your journey! This site has wonderful people that can offer support and understanding! I do know it is unsettling, as I have two children (and grandchildren). I pray they do not have to face this, but it's out of my hands! And, if so, hopefully there will be a cure by then! My best to you..., ;o)
Well, we are all close in our replies. Me too. After awhile, I got my genome. OK, I do have a gene mutation (SIL1) but it is not one listed on the usual SCAn lists. It is recognized as generally associated with ataxia from another source. Symptoms of the associated one seem toi be related to puberty problems. Well, I'm 80, so I don't think I am in class.lol I'm still in there. My father and some in his family had dementia, but not alzhiemer's. I get to a neuro. every two months. (Can't get an appointment at any closer time span.) So, I,we, will just keep sharing info. Thanks. -Silky
thanks for all the nice comments. just spent the day in bed after quite a bad headache and vertigo! no doubt brought on by me getting stressed at the neurologists attitude ... there is nothing i can do for you etc! but im sure you have all heard this type of thing at some stage. thanks again and take care all .x