Looking for help

General
1

Hello. My mom has hereditary ataxia. She is one of 10 children. Of the 10 children, 4 had Ataxia-my mom, 2 uncles and one aunt-who are now deceased. My mom was born in Ireland. From what we have figured out, it was my grandmother who had ataxia. It has taken me about 15 years of many, many doctor appointments to find out the information I have now. I understand that it is directly passed. I understand that out the 4 siblings and 12 cousins I have in the direct line of hereditary of this ataxia-at least 30% of us will also be diagnosed with it. We have gone through extensive genetic testing at the University of Chicago and the type of ataxia in my family line has never been identified. We do not have a type. It was referred to both the Mayo clinic and to a research facility in Germany and we still have no answers as to a type. It has been very hard to have something that up to tho point-seems to have no exact diagnosis. We know it is Ataxia but no genetic type for my family has been identified.

My mom is almost 70 years old and is now declining pretty rapidly. She is extremely depressed. She can no longer drive and needs to use a walker all the time. She has a very good diet and limits things like carbs and sugar. She has taken so many medications that its too much for me to list. She had cervical cancer 10 years ago and underwent treatment which caused some damage to her stomach so taking medications is very hard on her. Some meds make her very sick and she has to stop taking them.

I know I am reaching for anything, I know you are all suffering through these terrible effects also. I guess I am just looking for any alternatives that anyone has used that has helped you with the walking or the "fuzzy" head feeling my mom seems to suffer from. My family will be plagued by this for many generations and I am just hoping for any information. It makes me very sad for my family.

Her doctor is Dr. Gomez at the University of Chicago-Ataxia Center. We live on the south side of Chicago. And most of my family is here-and the rest in Ireland.

Thank you for any help. I can't put into words how much I appreciate it.

2

Hello Irishsue,

I have Spinocerebellar Ataxia Type 6. I inherited it from my mother. We don't really know where it came from, but I suspect her father who died late 60s, early 70s. Mum's symptoms started in her 70s. The doctor told me that I had a 50% chance of getting it. I have two sisters, and one has it, with earlier onset than me, and the other has a completely separate neurological condition. :/

I have four children and have been told that all 4 have a 50% chance of inheriting it from me. I am of course hoping they have taken after their father! Then of course, if my children inherit it, they may pass it on to their children. However, by that time, and indeed by the time my children contract it, if that happens, medical science will hopefully have marched on, and there will be a cure, or at least a decent treatment!

I have been lucky, I have a name for my condition. I hope you can find one for your mum's. At least you know it is ataxia.
At the moment, I do tai chi, and go to water therapy once a week. I use the treadmill and exercise bike for around an hour most days. I do "weight training" bringing the wood in. All this has helped my balance, not wonderfully, but I feel a bit more confident. Co-ordination is still up the creek. I eat sensibly, and at this stage am able to "do" for myself. I can drive around town and anywhere rural, but if I need to go to the city, I get someone to take me. One of my symptoms is visual disturbances, and I find city driving just too much for the brain to handle. I use a walking stick when I'm out. It gives me confidence, and helps me to walk straighter, and warns other people that here is a person who may walk in a funny manner. I know several other people in town (it's very small) who use walking sticks, and we have promised that one day we will have duels. Provided we all have a hand rail to hang onto.

Some days I have "brain fog". On those days I just stay home till things start working normally. I refuse to feel sorry for myself, even though at times life has become "interesting". I know other people who have inherited what I consider to be worse things than me. From watching my sister (she is 11 years older than me) I know I will get worse.

I understand you feeling sad for the family. Keep on plugging on in your efforts to find out what is going on. For your mum's sake, and for your own.

3

I have turned 70 years and feeling the 'fog' more than ever. the walker has weakened the use of my wrists and hands.. I cant use my little finger for typing which I have done for over 50 years!

My mum had rheumatoid arthritis and fatally overdosed at 57 years but I suspect she also had ataxia [no known cause or idiopathic]

I watch my son and three grandchildren and pray that there is no link.

It is very difficult to stay positive ... I use hypnotherapy 'tapes' which I download onto ipod.

I wish your family all the best Sue.

Patsy, Colchester, UK

4

Irishsue, I just learned in Dec 2013, I have hereditary ataxia too. No specific type. I was young and did't pay attention to my father, my aunt and brother. And also, my aunt suspects her father had this too. However, they do all have it and there was a clinical study over 20 years ago. Don't know what happened from the study yet. Now I got a pedigree chart from 1992 and I will keep it going to help with dr's as requested. I got all this information this week, though.

Anyway, Magrat, I do almost the same, exercise means a lot with this, I am putting 2 and 2 together now. Over 7 years, I didn't have co-ordination. I do Pilates once a week and muscle training 2x's a week too. That's my PT. Incorporated in the muscle training is several balance exercises too.

I went through a few stages at first like guilt (my children and grandchildren may get this too), why me attitude, then acceptance. I want to help as much as possible now.

Not sure if this helps at all, but stay positive and I know it's hard.

5

I read your message with interest. I am suspected of having hereditary episodic ataxia, but have no knowledge of any other family members who had this disease. My family heritage on one side is also from Ireland. Maybe the gene came from that side of my family, and their symptoms were mild - not diagnosed. I don't have any living siblings. After reading about your lack of success with genetic testing, I'm not sure I will have it done. I'm not sure if Medicare pays for it, and my private health insurance doesn't. I'm sorry to hear about your family. My episodes of ataxia are getting worse, and closer together, so I guess it's progressing. I worry about my daughter and grandson and future generations getting it. I am starting to use a cane and rollator, but hope I don't have to give up driving. I live by myself, so it would be difficult. Thank you for sharing your story - I had been hoping to hear from someone who has a family with multiple cases of it, and their experience. I wish I had something to add to help you.

Nancy J

6

Dr. Gomez has told me this- he believes the type we have is actually inherited from Irish genes. Irish hereditary is the most common of hereditary ataxia. Medicare does not pay for genetic testing. We have had it done twice. Once at mayo and once at university of chicago. And paid out of pocket. My parents paid over $10,000 to try and identify the gene and get more information but it resulted in no answers. I take my mom to the university every 3 months to try and keep updated on all current research and studies. Dr Gomez is a leading researcher and has been published countless times. He works with the international community. He is very interested in my family- mostly because there are aot of us. I have a first cousin who is a researcher at the brain institute in japan who is also helping in my research. I will post any information I receive. I was told that Germany researchers have taken an interst in examining ataxia. My moms blood has been sent there for further research. If I find out any information on anything I will let you know. I just wish I could just find some relief for my moms symptoms :frowning:

7

I live in Chicago's south suburbs, and have known Dr, Gomez for 20 years. He originally diagnosed me then, and I learned just 2 yeras ago that my family has SCA 15. I am very familiar with your story,as my family has/had 14 members affected over the last 3 generations. We came from Germany.

I run the support group>>>The Chi-town Ataxia Friend Ship. We are having a get-together tomorrow at 1:00. All info at http://chitownataxia.org We would love to have you. You will learn, you will get questions answered, and believe it or not, you will have a good time. We are a family that you never knew you had. I can't put into words how much you and anyone else in your family should come. You can call me at 708-■■■■■■■■. My name is Jonas

8

Jonas- I can’t tell you how happy I am to hear from you. I am going away for the night but will try and be home early tomorrow. I will call you. Can you just tell me where the meeting is located? And how often you meet?

9

Good Samaritan Hospital in Downers Grove....about a 20 - 25 minute ride from Oak Lawn. We meet every 2 mos... again ALL info/directions at http://chitownataxia.org

10

Here's free a link for the next 24 hours from an expert neurologist that has a brain-based rehab program using exercise 3-4 times a day for 1-3 minutes brain plasticity. Good for ataxia.

http://www.functionalhealthsummit.com/daily-access/

11

Here's another part of the program that comes from the same neurologist and functional medicine above. Addresses gluten and aging symptoms

http://www.functionalhealthsummit.com/daily-access/

12

The responses and connections made here warms my heart.

Hang in there IrishSue.

*hugs*

13

Very sorry to hear about your family's struggles with ataxia. Truly a dreadful illness. I too suffered from ataxia of unknown origin starting when I was 39; and I suffered horribly with headaches confusion and random falls for the next 10 years. After too many wasted appointments with "specialists"; I decided to go on a gluten free diet two years ago because I was so sick and had heard it could help those with neuro symptoms. Amazingly, the fuzzy, brain fog head that had been my constant companion slowly melted away over the last two years. I am still not as well as I would like; but so much better than I used to be. Last summer, I was diagnosed with Celiac disease and as such, will continue with a gluten free diet for the rest of my life.

I too am of Irish decent. As it turns out, the Irish are much more susceptible for celiac disease than most. I highly recommend that your mother and other relatives dealing with ataxia symptoms go on a gluten free diet immediately. It was a full 3 months on the diet before I noticed any improvement; so be patient. Most people think Celiac disease only causes stomach problems; but almost 40% of the afflicted suffer from neuro symptoms like a heavy head, headaches, migraines, vertigo, dizziness, poor balance and ataxia.

I wish you well and don't hesitate to contact me if you wish to discuss any of this in more detail.

best regards, Bill

14

Buffalo Bill and All, I am so happy to read your post and advice. I have had tremendous success with the gluten-free diet as a gluten-sensitive. There is so much info to research and learn about gluten.I have a mild case of cerebellum ataxia.

Here is a link to a free health summit on functional health I am listening to if you are interested:It is amazing. The recordings will be up each day for 24 hours.

http://www.functionalhealthsummit.com/daily-access/

Are you connected with the gluten ataxia forum?

https://mail.google.com/mail/u/0/#search/jc/1475869c6135e452

Keep up the wonderful and inspiring work!

15

Dear Irishsue,

is this right that only four of the children of your grandmother have (had) an ataxia, and none of the cousins?

Also your grandmother had symptoms.

This might be an ataxia which is inheridated in a recessive manner, and your father might not have shown any symtoms, although he contributed to the disease.

Maybe it would be helpful for you to exclude Ataxia Telangiectasia. This form of ataxia is still underdiagnosed, with supposedly many more affected adults as previously thought, with milder symptoms than the "classical" Ataxia Telangiectasia. Cancer and intolerance to medications are common in Ataxia telangiectasia.

(For a first test you might look into the eyes of the affected - are there dilated blood vessels? And to a blood testing for Alpha-Feto-Protein, which is usually elevated. .

In my view i have got it too, but still without diagnosis - for some reasons (there is another hereditary ataxia in our family, first it was thought that i would have got this, but the first testing was negative. Then another neurologist insisted in testing me for a second time, because my blood in not my natural blood, but - in parts - transplanted..).

Intolerance to medications could be caused by an increasing parasite-load in the body. For me this problem has been serious, not having tolerated the vaccination for influenza, and a lot of other meds.

Now, after 1 1/2 years of steady intake of an antiparasitic medication,atovaquone, this has completely changed!

Also the vaccinations against pneumococcal disease this not help, i could not get the necessary anti-body-tites even after 5 attempts. A half year ago, after one year of antiparasitic medication, the vaccination has worked!

Also a lot of symptoms have dissappeared after the start with the treatment. I had to take carbamazipine/Neurotrop for unvoluntary movements, swallowing, biting in my tongue etc. This has disappeared!

Surely i have got ongoing symptoms and a might - be - steady deteriorisation of a sort of genetic cerebellar ataxia.

But this treatment has been a big success!

Sorry to say that atovaquon is not cheap. But there are also other antiparasitic medication, which are less expensive. And: finally it would depend on the sort of infectious agents (includiung fungi, protozoae, bacteriäe ) in your body which treatment would be most favorable. Today only a part of these deseases are diagnosed, but this would be possible to do.

The immunollogic status of your affected family members would also be of interest. Are there deficits? Specific deficits are resulting in a vulnerability to certain diseases...

Kind regards, good luck

Akita

P.S. There might existed an SCA xxx which could get a name only when a common mutated gene in your family would be detected. Maybe your familiy will be the first one found with this very mutaition..This could last for years... My grandfather got his first symptoms when he was 50, and only 42 years later the genetic testing was possible and the disease got a name: SCA6..In my impression, my uncle and my aunt are affected in different ways, as my aunt might have got an infection additionally which is not so different from mine. Maybe the infections in one familiy are passed on to the next generations in part differently from the genetic mutations, and this might be the cause for common symtoms in "A-T-Families" or "SCA6-families" in which only one part of the family member has got the mutation/s...

**

16

We can only determine for sure-4 of the 10. My grandmother lived in Ireland. She definitely had a balance issue but it was never addressed. My uncle, also in Ireland, used a walker and had extreme dizziness from the age of 60 until death-never diagnosed. My aunt in Ireland had early symptoms but died in her 50's in a fire. My uncle and my mom is Chicago have been diagnosed. None of the direct cousins have been diagnosed yet. We are in our 50's, 40;s and 30's --none of have chosen to be tested. The other sibling did not have it. My uncle and aunt here in Chicago are close to 90 years old and in great health. My uncle alive in Ireland is in his 80's and still works the farm-no problems.

I will talk to my mom's doctor about everything you wrote. It is very interesting.