Hi all! I posted last week that I am due to see a Genetic consultant in a few weeks time to see if I have inherited my dads unknown Ataxia. I have been under my dads neuro for the last four years and at our last meeting he referred me to the Genetics clinic. I asked the neuro all the usual questions and he can never give me a straight answer, is that why he referred me to genetics? I know its a complicated dissorder and it seems that patients know more than some Dr’s. I had MRI’s done on my brain and cervical spine as I suffer with chronic neck pain but he just said he thought the pain comes from slight degeneration of c6 and c7 vertibrae and said I have spondylosis of the neck. The neck pain was one of the first symptoms my dad had when he started being ill and he was roughly my age at the time. I just feel as though the neuro has past me on to someone else because he hasnt got any answers to my questions and other symptoms, or does he think I have ataxia and wants to explore every avenue before diagnosing me? I dont need to know what number ataxia I have I just want to know either way. The waiting around for appointments and test results is exhausting as its driving me mad and taking over my life. All I ever do is research and of course come on here to read the advice from you lovely people. Take care. xxx
HI GAIL
HAVING ATAXIA CAN BE TUGH TO LIVE WITH BUT ITS ALL UP TO YOU THE WAY YOUW ANT TO DEAL WITH IT..
ITS TRUE DRS KNOW VERY LITTLE ABOUT IT AND YOUR BEST ADVICE IS FROM SOMEONE WHO HAS THE
CONDITION [LIKE HERE]. IF YOU HAVE GOOD FRIENDS WIKLLING TO HELP IN ANY WAY YOU ARE BLESSED [LIKE ME] DONT FIGHT THIS IIT WILL DRIVE YOU NUTS. THERES NO CURE BUT YOU CAN SLOW THE PROGRESSING WITH AN EXERCISE AND WAATCHING YOUR EATKING AND KEEPING A GOOD OUTLOOK ON LIFE AND [VERY IM PORTANT] LAUGH AT YOURSELF. I HOPE YOU DONT HAVE IT BUT IF YOU DO GOD BLESS
Hi Gail, sorry you are having to go through this. My husband, Bob started having symptoms when he was 29. Mostly uneven gait, speech was somewhat slurred. went to many doctors but no diagnosis. It progressed and finally was called a degenerative cerebellar disease, and then more recently SCA2. It was always thought to be sporadic, since it was never in his family before, but 2 years ago our 34 year old daughter started showing similar symptoms. She went to a neurologist and was tested and it was positive for SCA2. She did not go to a genetic consultant, the doctor just ordered a blood test and tested for SCA1 and 2. My husband was in Viet Nam for 18 months in 1968-1970 and was exposed to massive amounts of Agent Orange and I am convinced that is where the gene mutation originated, although I can't prove it and it is not one of the presumptive diseases approved by the VA. I have another daughter 2 years younger than my other and she has also been tested and fortunately is okay.
My husband is now 65 and has lived with the disease all these years. He is in a wheelchair and has very little use of his legs but his mind is pretty sharp and he keeps a positive attitude.
I hope you find out you don't have the disease, but like you say you need to know. Good luck to you.
For me the unknown is worse than the known. I knew long before the doctors that I was very sick, for more than ten years I would tell doctors something is wrong, I feel like I have a hangover but I don’t drink alcohol. They never listened and just pushed my statements aside, about a two years ago the symptoms started getting bad enough that it was effecting my work, I constantly went back and forth to the docs. I saw neuro’s, and all sorts of docs, they kept telling no nothings wrong. I found new doctors, same answer…no nothings wrong. So I started my own search on the internet with every type symptom I would inter it in xyz + avec, I did this over and over again and again with even the smallest of symptoms. The internet finally started sending me web based commercials for “MS & Parkinson’s” so I studied those diseases although they were close still not exact fit but took this new info to my doc.
Now they were listening, more test, no to both MS & Party, but they did keep looking. Now I had started falling backwards and sideways, and my feet were numb. Finally doc says “sensory ataxia” I research it and tell my doctor no it is more advanced than that…I was not listened to again…I think docs thought I just like coming to see them. Six months went by I was getting worse now my gait was affected but it never happened in front of doc, so if he didn’t see it, it must not be true. Two weeks ago, I went to the neuro, my gait was off, I couldn’t perform the nose/ finger test and had some weird reflex reactions (hyper-reflexes). FINALLY! !! Neuro said hummm I don’t like this, more test. I got an answer back he and his colleagues now say “neurodegenerative disease” ataxia, neuropathy…
Yes finally we agree
Moral of the story; listen to yourself and your own body you know what is going on and you are the expert.
Hi Gail,
If you can - take rayjan's advice and laugh at yourself, I know this can be difficult, but it's good advice. I laugh at my self all the time, including when I'm with my Neuro Consultants at the Neuro Hospital in London. I've only been out 3 times in the last 30 days because I'm feeling low with a very bad cold and cannot get going - but I've been laughing at myself. I also have very bad neck pain and am not allowed to take pain killers because of my Stage 3 Kidney problem which I think is funny. I've had to cancel 2 appointments in London this week with my consultants because of how I've been feeling.
We have a TV programme over here called "Litlle Britain" which makes fun of every type of person you can think of, fat, thin, gay, straight, odd, and so on, and so on, which I think is very funny (some people don't like it).
On my Facebook page you will see that my motto is "always look on the bright side of life" In my profile I say I'm a bit of a nutter - I am able to poke fun at myself, and I don't take myself seriously..
Enough of what I've been going on about. I do hope you will get some results soon - the waiting can be a pain.
In case your'e wondering what I have - I'm one of the lucky ones - my Sensory Ataxia only started 6 years ago at the age of 77 years (my consultants are trying to find out why - I know they would love to know why - and so would I)
I'm gong to shut up now but, wish you all the very best.
Doug Smith, Bristol, England.
twirlie girl gets my vote.
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Ada 1918–1996 |
Mother's Day started me thinking about how this began (to my knowledge). I have Spinocerebellar Ataxia, Type 6 (SCA-6). There are many types that vary in onset, cognitive involvement, and other things that are of no interest to most people. I now know that I got the autosomal dominant gene from my mother, who unwittingly passed it along to me. Looking back, I recognize the ataxic signs began in her mid 60's--the gait, the speech, etc. After my initial diagnosis in 1997, I was angry with her for doing this to me (I didn't care that she never knew). "Come on, Ada." I thought I had just inherited her boobs, skinny legs, and smart mouth.
But she wasn't much of an information-seeker, and consequently, didn't realize she had Ataxia. Ada just thought... (actually, I have no idea what she thought). Although she and I were close, Mom went to great lengths to deny her Ataxia. She knew something was wrong, but backed away from putting clues together. Her family decided that her behavior was because she had never taken care of her health, drank too much, watched too much TV, stayed on her chaise lounge 24-7, and wanted to be catered to. My usually "snappy" mother took all of our judgements in silence. That should have tipped me off to a problem right there. As her only child, one of my saddest thoughts is that she was alone in this. Mom's self image was just too important to her and that trumped everything else. She said nothing, we said nothing. Ada died of pancreatic cancer before she progressed neurologically (she would have considered that the good news).
Children are a recurring theme and a big issue in Ataxia circles, since descendants have a 50–50 chance of carrying the gene. I think Mom became symptomatic in her 60s, me in my late 40s. The other shoe dropped when Heidi became symptomatic with her second pregnancy in her early 30s. Earlier onset with each generation is officially called anticipation. Our son, at 37, is asymptomatic. Our children and their spouses had their own families after my diagnosis, knowing the risk. My biological children, in-law children, and four grandchildren are supportive, aware that I may represent what they have to face in some way. Granted, I'm not the grandmother I want to be, but I can still hold the grandchildren on my lap, play on the floor, read books (sort of), give rides on Skeeter, my trike, the grocery cart, etc.
It's not rational to feel guilty (besides that, guilt is my least favorite emotion), but our children are so bright and beautiful, that I wanted anything that came from me to be perfect. It didn't happen that way. We all pass on characteristics to future generations through our genes. But, most of the time, it's blue eyes, a certain body type, or a predisposition for heart disease, etc. This felt more like a life sentence from a lottery.
So, do you test descendants for a disorder that has no cure, no treatment, and a 50% occurrence rate? The short answer is probably not, unless you want the information for planning or you just want to know. Most genetic researchers advise against testing asymptomatic children. First of all, minors are too young to give informed consent. Secondly, genetic testing is extremely expensive (a full genetic panel could exceed $5000.00) and is rarely covered by insurance. Most importantly, children are better served by being encouraged to follow their physical interests and live their lives. If the Ataxia should manifest at some point, and they seek out information (family, physicians, support groups, websites), they'll figure out the particulars on their own.
The lesson: Nothing to be gained by anticipation (pardon the pun).
I see an Ataxia specialist and he ordered genetic testing but my Anthem Insurance would not pay for it so I never had it done. Maybe Genetics Doctors have more luck at this. Good Luck Gail!
I live posts, Schumant! Great sense of humor and good sound advice.
It is true that is is not always good to know whether you have a disease or not. Good if there is a cure or a way to treat it. Not so good if there is no cure because of the "anticipation " you mentioned.
But (there is always a “but”) the theory is also debatable in the case of a defective gene carrier. A carrier might be just that, he/she has a gene for a certain disease, but will never or might never develop the disease. However, the carrier can transmit the disease… So what to do. Some of those carriers, live in fear of developing the disease. Is it worth knowing then that you have the bad gene? fir most, they would have been better off without that knowledge. Ignorance can be bliss in certain cases…
This is a very complicated matter. It is up to each individual to make their own decision, according to what they think they can live with.
Keep writing Schumant! I love your style. You could write a column like Erma Bonbeck… (this is a compliment - this being said for those of you who are too young to remember her, or from another country).
Thank you all for your comments and help, it means a lot. I am very fortunate to have inherited my dads sense of humour and laugh at anything especially my self! Doug I’m in the UK too and love Little Brittain! I watch a lot of comedy as I love to laugh and do belive it can make you feel a whole lot better. Dad always made sure we knew how to take a joke and took the Mickey out of himself all the time, even more so the more poorly he became. Im also extremely lucky to have a husband who makes me cry with laughter every day and we have always promised to make each other laugh for as long as we draw breath, I always say his sense of humour will be the death of me one day and I actually will die laughing! My appointment with the genetic consultant is 3rd Feb so I imagine I will get some form of result/diagnosis a few weeks later. My brother and sister dont want to know if they have it but I am the only one out of us 3 that has children so I need to know so I can put some plans in place for their futures.
Hi Gail,
I love what you have just posted. Yeah I saw you come from Stoke on Trent - I always look to see where people come from.
I can tell from what you say (and the fact that you like Little Britain) that we share the same outlook on life - laugh and make everything fun if you can - I admit this can be very difficult at times - but we must try.
Cheers for now,
Doug Smith, Bristol, England.
Hi Gail
I agree with you about consultants and tests etc. You have probably read my last post entitled 'Depression or Ataxia'.
I had a similar story. I suffer from bad gait, speech, coordination, choking etc for many years. I have seen at least 3 Neurologists. One of them finally had a diagnosis of progressive cerebellar ataxia. However they wanted to know the cause and put a number to it. I had genetic testing with negative results. My neurologist at Royal Free Hospital decided to refer me to the Ataxia Clinic at the National Hospital in London. I disagreed and told her what's the use of referring me when I know there is no cure. She said that I have no choice. I went there last Thursday. After the same examinations I have been through scores of times she finally came out with a diagnosis that I suffer from depression and that it is the depression that is causing all those symptoms. I am still devastated to what extent people from the medical profession can ridicule us. I like twirlie girl's conclusion. Listen to yourself and your own body you know what is going on and you are the expert.
Well said Deo's page
Gail,
I know what you are going through I went to doctors and specialist for over 16 years and none could diagnose my problem and in the mean time I was getting cerebellar damage. I finally went to a MD doctor who specializes in nutrition she found
my problem on the first visit. She knew what blood test to run it is called Spectracell micronutrient test. I had the treatment some 18 months ago consisting of thiamine IV for a week I have no new symptoms and the symptoms I had improved
I only have one symptom now gait disorder do to cerebellar atrophy.
I just had a cervical fusion for spondylitis at C6 and C7. My balance is a little better but I still have the neurological symptoms of ataxia. I see an ataxia specialist and went to a neurosurgeon for my neck. I think you need an ataxia specialist as most neurologists may not know the latest on ataxia since it is so rare.
Gail,
I found out neurologist and other doctors are inadequately trained in nutrition in med school only if you are going into nutrition. I went to doctors and specialist neurologist for over 16 years with no diagnoses. I had to get proactive and find the problem myself. I finally went to a MD doctor who specializes in nutrition she found my problem on the 1st visit. She knew what blood test to run. The test is called Spectracell micronutrient test. It found my problem thiamine deficiency.
I looked up thiamine deficiency if you have thiamine deficiency for a long time more than 10 years it damages the cerebellum. Which I have. I went and got treated 18 month ago it stopped or slowed my progression down I have no new symptoms and the symptoms I had improved. Here is a article by PubMed.