Hi, my name is sharon, I’m new and glad to have found this place.
2 of my son’s have cerebellar atrophy, the youngest being the worst effected. They are still undiagnosed but there is a genetic link as other members of the family on the maternal side are affected, all present differently but the basics seem to be the same. Ataxia, low tone, learning difficulties and problems with speech.
My youngest had an MRI at 2 years which was clear, another at 9 years that showed moderate cerebellar atrophy and the last 3 weeks ago at 12 years that showed the atrophy is getting worse. My 14 year old had an MRI 18 months ago ( at the request of Dr Nemeth in Oxford) his showed elements of cerebellar atrophy. His was also repeated 3 weeks ago and appears to have stayed the same.
Every question I asked the neuro was met with ‘I don’t know’ as an answer.
My son doesn’t seem to be regressing although I got the impression from the neuro that he thought he ought to be, I would say his balance is worse but am unsure if that is weight related.
Is there anyone out there that has a similar story? Anyone with any advice?
It feels very much as if we are sat on a time bomb waiting for it to go off and it’s kinda scary 
Hi Caseslot, Welcome to this site! I am 58 years young, diagnosed about 8 1/2 years ago with sporadic cerebellar ataxia (non-hereditary/unknown cause). Being a mom to two grown children, I know how you feel, as when your child is ill or hurting, we wish we could take it on ourselves. We want to make everything all right for them. So, yes, it is scary! Unfortunately, the medical community doesn't know much about the different forms of ataxia. There is no "cure" except if it's related to a vitamin deficiency. Also, there are many people on this site who have gluten ataxia, and are on gluten free diets to control their ataxia. You mentioned a genetic link, although they are undiagnosed. Therefore, I also assume the neurologist they see is of the thought that your son's ataxia is linked genetically, seeing how other family members have it. Wish I could be more helpful. I can say that what helps me the most is exercise for strength and balance and eating as healthy as possible. Hopefully others (especially with children) will respond. I hope all goes well and you find the answers you need! Hugs...;o)
rose said:
Hi Caseslot, Welcome to this site! I am 58 years young, diagnosed about 8 1/2 years ago with sporadic cerebellar ataxia (non-hereditary/unknown cause). Being a mom to two grown children, I know how you feel, as when your child is ill or hurting, we wish we could take it on ourselves. We want to make everything all right for them. So, yes, it is scary! Unfortunately, the medical community doesn't know much about the different forms of ataxia. There is no "cure" except if it's related to a vitamin deficiency. Also, there are many people on this site who have gluten ataxia, and are on gluten free diets to control their ataxia. You mentioned a genetic link, although they are undiagnosed. Therefore, I also assume the neurologist they see is of the thought that your son's ataxia is linked genetically, seeing how other family members have it. Wish I could be more helpful. I can say that what helps me the most is exercise for strength and balance and eating as healthy as possible. Hopefully others (especially with children) will respond. I hope all goes well and you find the answers you need! Hugs...;o)
Hi Rose, thanks for your reply. Our neuro had given up really. So I managed to get a refferal to see Dr Nemeth the geneticist in Oxford, she runs one of the main ataxia centres in the UK, since meeting her we have managed to get on 3 different research studies, we were already on the GOLD research study. So hopefully, one day, we may get answers!! It’s not so much about looking for a cure, I know there isn’t one but more for future generations, my 19 year old son has asked me if, when he has children will they be affected? I can’t answer him…yet.
Hi Again Caseslot, That's wonderful about all the research studies! The UK seems to be more involved in ataxia and research studies than here in the USA, so I'd say you live in the right place...,ha! Who really knows, there may be a cure eventually for this generation. We'll keep our fingers crossed and think positively! Yes, as I said before, I hope you get the answers you need! Please keep me posted..., ;o)
Curious whether your children had vaccines? The vaccines are compromising the enzymes in the stomach. When this happens you become gluten intolerant. If you continue to each gluten without realizing that you are now gluten tolerant your brain continues to be attacked. I would also be very suspicious if you are told certain health conditions are genetic.
I am an autism mom, researcher, and expert. This is my 5th year studying "autism" My father also was diagnosed with cerebellar ataxia in his 80's. He is now in his 90's.
Colleen Yosick said:
Hi...
I have SCA1 and I really think you should get a name and number for the ataxia that's rummaging through your family. Once you know that, I personally feel that treatment is better. I heard at the 2011 NAF meeting that our generation will suffer, but the next will not, meaning there will be an effec tive treatment for them. A lot of others feel that a number behind the SCA (spinocerebellar Ataxia type 1) doesn't matter but I highly disagree. I think the future generatiopn nneeds to know. I have 2 kids at risk and it kills me.
What is your vaccine history of your children? The vaccines can compromise the enzymes in the stomach and make you gluten sensitive. If you continue to eat gluten and you are gluten sensitive your brain will continue to be attacked. Your gut has neurotransmitters just like your brain.
max4metals said:
Colleen Yosick said:Hi...
I have SCA1 and I really think you should get a name and number for the ataxia that's rummaging through your family. Once you know that, I personally feel that treatment is better. I heard at the 2011 NAF meeting that our generation will suffer, but the next will not, meaning there will be an effec tive treatment for them. A lot of others feel that a number behind the SCA (spinocerebellar Ataxia type 1) doesn't matter but I highly disagree. I think the future generatiopn nneeds to know. I have 2 kids at risk and it kills me.
Hi Sharon, I was diagnosed with Gluten Ataxia two years ago which affects the Cerebellum and causes walking, balance and cognitive issues. This may be similar to your sons diagnosis. I was told to avoid gluten or I would continue to get worse. I stopped eating all gluten which is in bread, pasta, pastries, etc., and I am about 90% improved. Everything is better and I can do pretty much anything now and although I may never be at 100% that's ok with me because I have stopped any further progression. I recommend that you eliminate all gluten products from your son's diet immediately. It takes a few weeks to see even a little improvement and months to start seeing recovery so this is a long process and if it helps him he will need to avoid gluten for the rest of his life. Gluten damages the cerebellum and I have read that the cells that have been destroyed will not come back but I have experienced significant healing and recovery so the brain may find other ways to accomplish the same task. Eliminating gluten can't hurt and it may give your son back some of the functionality that he has lost and stop him from getting any worse. It gave me my life back as I was at the point of needing a wheelchair. There is a ton of information online to help you get started. Look up gluten free diet for information. When you look for gluten free flours look for those that start with whole grains such as brown rice as I find those made with little fiber give me low blood sugar. You can make or buy gluten free products to replace those that you're eliminating. I would also like to add that my neurologist, who I saw for three years before my diagnosis offered no help at all. He had no idea what was wrong with me and put me through all kinds of tests that showed nothing. Frustrated, I started going to a holistic health center where they practiced functional medicine and they diagnosed gluten ataxia. Even if your doctor says it won't help, which he might, try going gluten free anyway. Like I said, it gave me back my life and it may do the same for your son and the other family members that you said have the same problem. Good luck to you and your family.
Hi caselot, I was diagnosed having Sporatic Spinal Cerebeller Ataxia in 2006. But I didn't recieve a number behind my SCA. I was told that Sporadic means that it must be hereditary because most ataxia's are and it must be from quite a few generations before but they are not sure really how I got this ataxia there is no know case in my family. Years ago they didn't keep great records or even know of ataxia.I wanted to mention that I'm also a Mom and a Grand mother of 4.
. I went to Dr after Dr for quite a few years and recieved so many diffrent misdiagnoses until I finally got fed up with so may diffrent diagnosis and I knew in my heart the last one couldn't be true (my thought was that I wouldn't accept what I was told. That in its self could be debilitaing if you psyche). I was told I was going to die from what I had within 4 years. So I went to the Mayo Clinic in Minisota (because I always heard that when someone was given a death sentence the Mayo could clear it up and find out what someone did have).
The first time I went there it cost over $10,000.00 out of our pocket because our insurance HMO wouldn't pay for it but I felt I needed to know anyway. We came home changed insurances so it would be covered, I went through lot's more invastive testing and spent $100,000.00 (our portion was $7,000.00) and still didn't get any number. They said try again in a few years that maybe they will come up with a new test because I had all of them and then some.
My point is it's been over 12 years for me now and I'm still here without that fear but I could be a heck of alot worse if I listened to what I was told by most Dr's. I stoped trying to find out. I was refered to UCSF Nurology and go there every year for follow up MRI's. For documentation and just to keep up and to find out what's new for ataxian's. I was told there are some new tests out there but my Dr (that writes papers for ataxia at UCSF) said he wouldn't put me through them because there is only a 1% chance they would tell me any number and they are invasive. I also spoke with a Gene Counsler that confirmed this but said it was my decission but thought it was much better just to keep my focus on doing better with ataxia symtoms because clearly I am. The body is more resiliant than we give it credit.
Because the percentage of Sporadic is higher than any of the numbers. To me it's not about why or how I got this. It is what it is. It's not about what I can't do it's about what I can do and how I can make my life funtion much better while I have this.
I feel that sure in the perfect world (everyone would know right away) if I was diagnosed with a number maybe there would be a slight chance that someday there might be a cure or something out there but I'm not a gambler. I don't think wasting any of my time, energy or money with testing is more important than the here and now! I don't want to waste valuable time when I can put that energy to helping make my life better now. But that I think is a personal decission that each person needs to make for themself, or a parent for their child. It is what your willing to put yourself and the kids through. It was also very emotional for me. So please just be aware that just because you go through testing you may not be able to find any number or reason just so your prepaired for that.
This is why I work really hard on eating and monitoring as well as I can. Doing that's more in my control. My foods include no Gluten, Organic as much as possible, no preseveritives or additives, no flour or refined sugars, as natural as possible. Not hard to do at all! I use my foods as meds.This Including focused regular movement (exersize that helps me keep moving better). Who know's maybe just maybe that someday that might change but until then I'm going to try to do this for as long as possible because it is POSSIBLE I think for everyone.
Just living day to day with this ataxia is hard enough trying to maintain it all without adding the emotional side to it.I choose to stay focused.
I tryed taking some meds in the begining and I found it made my ataxia worse and couldn't settel for that. So I think it needs to be evaluated on an individual basis.
I also wanted to add that my Grand kids are learning that just because your handed a physical condition that you do NOT need to be limited unless mentally you accept that.
CColleen Yosick said:
Hi...
I have SCA1 and I really think you should get a name and number for the ataxia that's rummaging through your family. Once you know that, I personally feel that treatment is better. I heard at the 2011 NAF meeting that our generation will suffer, but the next will not, meaning there will be an effec tive treatment for them. A lot of others feel that a number behind the SCA (spinocerebellar Ataxia type 1) doesn't matter but I highly disagree. I think the future generatiopn nneeds to know. I have 2 kids at risk and it kills me.
P.S. My Cerebellum has stoped degenerating and has now for the last 6 years. My MRI's show that! My Dr at UCSF thinks I may have stoped this ataxia even though it hasn't been done before to his knowledge or most Drs for that matter! I think the mind has alot to do with this ataxia! :0)
I also have gluten ataxia. Dr Marios Hadjivassiliou is the world expert on this subject.
http://www.etseq.urv.es/cdmedics/pdfs/Celiac%20disease%20from%20gut...
He has MRI of patients who have gluten ataxia and have refused to go gluten free. It's certainly worth considering.
I have gotten most of my life back. I was 50 something when I finally got a diagnosis, so I may never recover 100%. I still have episodes if I accidentally eat ANY gluten. They last 3 weeks minimum.
I hope you get answers quickly!
Jeannie,
Have you seen Dr. Ostrom at UCSF? She was on Fellowship at UCLA with Dr. Perlman when I was diagnosed. After fellowship she went to be in charge of an ataxia clinic. I think it was UCSF. Great Dr. I'm sure your guy must be good too.
Jeannie Ball said:
P.S. My Cerebellum has stoped degenerating and has now for the last 6 years. My MRI's show that! My Dr at UCSF thinks I may have stoped this ataxia even though it hasn't been done before to his knowledge or most Drs for that matter! I think the mind has alot to do with this ataxia! :0)
Sharon,
I can only sympathize. I don't have any great insights.
My experience parallels Jeannie's. First symptoms as an adult, lots of clueless neurodocs, lots of misdiagnosis, finally found out at a research hospital then lots of tests to find out I didn't get a number.
Dr. Perlman tells me she wouldn't treat it any differently. My kids might like to get tested for a specific genetic trait. I can only tell them what tests not to have done.
Sounds like you've found a Dr. who understands what is going on. That's a great step forward in dealing.
Best of luck and welcome to the discussion.
Hi Sharon
Had an MRI about four years ago which revealed cerebellar atrophy.It was a bit of a relief as it could explain to me why I couldn't do something.I don't know the cause but in my previous life as a teacher I would have more understanding about handwriting.My intelligence has luckily remained unaffected.
I have also been to Dr Nemeth on Oxford.I dont think the medical profession know much about the ataxias but I am sure they are trying.
My two children who are in their early 20s did not want totake a test of any kind,neither does my sister .
I can see why.Things are changing all the time.I am happy as long as my children are happy so I really feel for you as a Mum.
Just as an aside the brain regenerates every six months. I agree that a traditional neurologist knows very little if anything about ataxia. I suggest you look at Dr. Daniel Amen’s work.
Hi Sharon,
I have cerebullar ataxia. I'm 59 yrs old and was first diagnosed in 2007. No one else in my family has ever had this diagnosis.As I understand it there is no phyme or reason to ataxia and there isn't much you can do about it. Many have had sucess with the gluten free diet. I didn't have any noticible improvement. I don't think its weight related either. I lost 30 pounds and in many ways I think I walk worse than before. I am dependant on a walker now.
Keep after the doctors until you get a better answer than I don't know. I know that easier said than done. I don't like being a pest either but it's you and your family- you have to come first.
@ Snoozy. Just wondering what your vaccine history is?
WOW so many replies. Thank you so much for sharing your experiences.
Both boys had problems from birth so I doubt it is vaccine or gluten related. I don’t doubt that it is genetic, my Aunts youngest son is affected, my sisters youngest daughter, my sisters eldest daughters son and my 2 boys. Too many in one family for there not to be a link.
So we keep waiting for answers, they will come eventually. If I consider what they know now to how little they knew 10 years ago, genetics really are moving at a fast rate of knots.
I just have a blip every now and then when they come up with a test result like last Friday
Thank you for your help and support.
As a member of the autism mitochondrial task force out of Boston since its inception this is what I have been made aware of: There is a Dr. who has been studying the mitochondrial disorder since it was first diagnosed and believes the oxidative stress is causing the deletion of the mitochondrial DNA. Something to think about. It’s a cop out to believe everything is genetic. I give my Creator more credit than that.