I'm just curious about those of you who have had the genetic testing for ataxia done... What made your doctor decide to do a genetic test? Is it expensive? Did insurance cover it?
I have been diagnosed with Gluten Ataxia, but it still doesn't add up since I started getting worse despite being gluten free for the last nine years. My doctor has mentioned these genetic tests, but hasn't done them. He didn't seem to feel it was necessary. I am wondering if I should request this anyway? However, nobody else in my family seems to have ataxia like I do.
I have cerebellar ataxia. The neurologist thinks it's Type 6 but he's putting me through genetic tests (I don't know how much it costs 'cos it's NHS). I've been told that my cerebellar is untreatable, so why should I go through genetic tests just to confirm the type? It's not heredity - noone in my family have got it.
When I was going to Dr. Susan Pearlman at UCLA, I had a lot of tests done. Many were genetic tests.
She diagnosed me as having spastic ataxia. That's just symptoms not a specific diagnosis really. The tests were mostly to try to get a specific diagnosis. My insurance covered all the tests.
I didn't test positive on any of the tests and for a few years I'd get whatever test had been developed since my last appointment. It became mostly an academic exercise at that point. The treatment would stay the same either way.
My father had some of my symptoms, but the hereditary connect seemed tenuous at best. Even though my insurance at the time covered the tests, it seemed a bit wasteful to continue.
So I'd ask, "What do you hope to get from the testing?" Is there some good that can come from the results? or is it just your curiosity?
Dr Sian Spacey at UBC had me go for genetic testing in an attempt to find out what type of Ataxia I have. Apparently my Ataxia isn't hereditary. I have an unspecified form of Sporadic Ataxia.
Going to see my Neurologist at the end of this month for my annual check up.Have had usual gamut of tests.Nothing so far but will let you know.Any ideas of questions to ask apart from the usual.
The neurologist that I saw at OHSU (Oregon Health Science University) had me tested for FXTAS (Fragile X Tremor/Ataxia Syndrome)
, which is a hereditary condition related to Fragile X Syndrome. I tested positive. The value for me lies in knowing what caused this illness; my mother, uncle, and brothers also were affected. It was also valuable because of genetic counseling; my daughters have a 50% chance of being affected, and if they are, their male children could be born with the full mutation of Fragile X.
My mum was diagnosed with cerebellar ataxia way back in 1980, several years later her brother was diagnosed with the same disease (both have subsequently died). The consultant treating my mum said that they had identified the gene that had caused the illness and offered my brother, sisters and myself a test. None of us had the test. Sadly, my older sister now suffers with the same illness but what is the point in being tested if there is no known cure??
I'm not your typical ataxia patient...my ataxia stems from a Chiari malformation, associated with Ehlers Danlos Syndrome, which is why I saw a geneticist. EDS is hereditary. There are gluten sensitivity issues associated with Ehlers Danlos (EDS), and a gluten free diet is recommended. Please have your doctor review your MRI for a Chiari (even a mild tonsillar herniation can be severe). It was a 4 year journey to figure out what was causing my ataxia. After convincing my neurologist to send me to a neurosurgeon that specializes in Chiari Malformations, I was able to be properly treated. My ataxia is almost completely gone, along with muscle/neck spasms, migraines,etc. I was treated with a drug called Diamox. If you find that your are hypermobile, get sprains easy, you may want to be checked for the EDS. Gluten sensitivity is rampid amongst EDS carriers. Good luck!
Before you have the test done also consider the impact on your own health insurance, life insurance in the future, disability insurance, travel insurance, car licensing, etc etc. A thing called pre-existing illness. If the result is positive what will be the change in treatment?? But now you have a pre-existing illness. If test is not done then no pre existing illness
I have SCA6 this was confirmed by genetic testing. My mother and aunt both has ataxia, but it was not until I was tested and a name was put to it that i knew what it was. I did not know it was heredity. I was seeing a doctor because of vertigo and migraines, and balance problems (thought it was because of slight arthritis in my neck).
The doctor (neurologist) tested me because of my mother and aunt (family history). I live in Australia and under are health system (Medicare) I am able to see a neurologist (outpatient at the hospital, long waiting list) I was able to get the genetic testing, MRI, no charge. He would like to test my 2 sons (18ys & 21yrs) to see if they also have the faulty gene that causes ataxia SCA6 (sca6 usually show symptoms after 50 yrs)
I do not know if insurance will cover the test in the US, but if you are able to get the test it will give you peace of mind to confirm it is Gluten Ataxia and if it runs in families. A genetic councillor might help you to understand the disease and give advice on testing and wether it is necessary. Your doctor might refer you to one.
My Neurologist did the genetic tests on me to try and find a cause. The results were negative but he told me, that because the tests were so expensive, they only test for the 6 most common types. He told me that because of this reason, I could still have a heredity cause but would probably never know. He then told me that at the end of the day knowing the name of the ataxia was not going to help me get better and that he would focus more on helping me with my symptoms, which I agree with. I have to say that over 2 years he tested me for everything he could think of before giving me a diagnoses of Idiopathic late-onset Cerebellar Ataxia ( ILOCA )
My husband had genetic tests as his brother had similar symptoms. No definite diagnosis though just both getting progressively worse. More research needs to be done about this insidious complaint. My husband has at 78 also been diagnosed with dementia which I believe can occur in some cases. of CA.
Dad had Parkinsons so I grew up with disabity.When I look at old videos of him at my wedding I see similarities and grew up fearing I would get the same.I wonder if there is any connection?I first developed signs of ataxia when I was 47 .I am now 52.feel old in body but not in mind.My neurologist just wants to know about deterioration.Don't know the cause.Does it matter what c aused it;I want a cure now.
I was diagnosed several years ago with SCA - I had genetic testing done. All the tests were negative - all they could tell me was I had an unspecified SCA. At the time the geneticist told me that there was a new test being developed - I don't know what the status is on that.
Why I did the genetic tests - more for curiosity, to try and find out what specifically I have. I know it's not hereditary, so that rules some out. I have an appointment in less than a month with the neuro, so hopefully he'll have more for me then!
I was told the same so I am going to ask some questions next week when I see the neurologist.Although they seem very nice do they really care??
BWGreen said:
I was diagnosed several years ago with SCA - I had genetic testing done. All the tests were negative - all they could tell me was I had an unspecified SCA. At the time the geneticist told me that there was a new test being developed - I don't know what the status is on that.
Why I did the genetic tests - more for curiosity, to try and find out what specifically I have. I know it's not hereditary, so that rules some out. I have an appointment in less than a month with the neuro, so hopefully he'll have more for me then!
One other reason that I would suggest testing is the possibility of being involved in studies. Right now I'm involved in a study at UC Davis, a medication trial. I figure that even if the medication doesn't make a significant improvement, I will have contributed to the research process, which is how people find cures. For those who are concerned about the cost of testing, I would suggest going to the nearest University with a med school, and see if their neurology dept. has any interest in your case... that's how I was able to get tested. But it's a personal decision. I opted for the testing mainly because I wanted. to know. I continue to stay involved in the process because whatever I can do to help my family, I will do. If. they can find a cure, then my grandchildren and great-grandchildren, etc., won't have to live with the dread of this disease.
I first did the genetic testing to see if they could determine if I have a hereditary SCA - we were contemplating having kids. When the answer for that came back negative, we decided to continue to try and figure out which one I have, knowing that there is not much that can be done regardless what type it is. The neuro and geneticist here do seem to care from a curiosity standpoint - they want to know what it is. It almost seems like a kind of vindication for them - if a test comes back positive then they were right - it IS a form of SCA. Right now they are making an (educated) guess based on symptoms, which is all they can do!
Brian
Marie Turner said:
I was told the same so I am going to ask some questions next week when I see the neurologist.Although they seem very nice do they really care??
BWGreen said:
I was diagnosed several years ago with SCA - I had genetic testing done. All the tests were negative - all they could tell me was I had an unspecified SCA. At the time the geneticist told me that there was a new test being developed - I don't know what the status is on that.
Why I did the genetic tests - more for curiosity, to try and find out what specifically I have. I know it's not hereditary, so that rules some out. I have an appointment in less than a month with the neuro, so hopefully he'll have more for me then!
Yeah. I'm a contractor (self-employed), but there's no ramifications that I have encountered so far. Just going to the Neuro and being diagnosed with SCA had the greatest impact on insurance. In Canada, a lot of healthcare services are done by the government, so there is no cost at the time of the test. Of course, you do pay for it eventually through taxes! Since there was no impact that we could see, we decided to go ahead with it. Time-wise it wasn't an issue - being a contractor I have more flexibility in my times than a standard employee.
I am flexible too.I have an appt with the neurologist next week.I have two chhildren in their early 20sand a sister.None of them want a test.Hopefullly there will be a cure by then.They have not found a genetic link so far.I am happy just knowing they are happy .This is my burden and I don't want them living under its shadow.Any idea of questions I should ask the neurologist??Have to pay 80 pounds extra for travel insurance but that is all so far.Very difficult when we don't know all the answers as to the cause or if it is hereditary or not.It's all abit of a mystery.Perhaps its better not to know if it has financial implications.