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Ataxia Support Network

Im looking for some help


#1

Hi. Im new to this site. My sister and I were both born with ataxia. No one else in our family line has this. For a long time, they had no idea what kind it was but they knew it would be progressive. I’ve been on the swim team, active, and totally independent until about 10 years ago when I needed wall support, or someones hand/arm to help me get around. I started going to physical therapy but noone seemed to know anything about what I had. I needed a program for balance, gait, flexibility, etc. I am 37 now and totally reliant on a walker :frowning: It sucks. I don’t even want to go out sometimes because it is so much work and I get looks from EVERYONE!!! I know a wheelchair is in my near future. The doctors at UofM did a gene test of my family and diagnosed my sister and me with ARSACs … they didn’t have much to say about treatment or future or anything… I don’t know what I am supposed to do.
I got very motivated this week and decided to try to reach out to people who may struggle with something similar… Help Me Please!!! I want a program (exercise, diet, whatever) that will help me with my balance, my gait (walking faster, smoother, etc). I have tried Baclofen a few times to help the spasticity (the doctors say that I have some of the worst :frowning: ) but the amount I needed made my legs jello and then I couldn’t move at all. I guess some of the spasticity is keeping me walking. I swing my legs out, drag my feet, roll my ankles so I walk on the side of my feet, etc. Im just trying to give you as much info as possible. Does anyone struggle with what I do? Have you found anything that helps? Why do they not do any research on ARSACs? Sorry just frustrated… I am motivated right now. I have an elliptical and a big basement that I can turn into my workout gym… I just need some guidance on what to do??? Doctors??? Researchers??? Anyone??? Please help!


#2

It is a rare disease, first diagnosed in Canada. It is caused by mutation of genes. Unfortunately, very few researches are going on: https://clinicaltrials.gov/ct2/results?cond="autosomal+recessive+spastic+ataxia+of+Charlevoix-Saguenay"

Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS,


#3

You may want to browse a few of the Ataxia related support groups on Facebook (starting with the NAF).


#4

Hi all, welcome :slightly_smiling_face: Everyone on here is looking for a way to improve their situation, in the absence of a cure. Research is ongoing into a cure for the Ataxias but as with most Rare Diseases/conditions progress is painfully slow. You can keep abreast of information on www.ataxia.org where there are also some very helpful FACT SHEETS (including Diet and Exercise). At the moment general advice is to stay as active as possible to maintain muscle strength, eat as healthily as possible, and also try to keep your mind active :slightly_smiling_face: Actually keeping physically active can be a bit hit and miss when symptoms are debilitating, and keeping your mind active and ticking over is no picnic when brain fog hits :woman_facepalming: I fully understand how frustrated and sad you must feel because of being so sporty previously :neutral_face:
Is it possible for you to be referred to NeuroPhysiotherapist, then an appropriate exercise program could be tailored around your specific ability. While there are lots of exercise videos on YouTube etc not all are suitable for every ability. Just guessing on what’s going to help can be counter productive and actually make the situation worse.
Rest assured, we’re all in the same boat needing support and empathy :slightly_smiling_face: xB


#5

I just went to a neuro physical therapist and she was very helpful in assessing my situation and offering exercises and strategies . I am very glad I saw her. I enjoyed it, too, even though I hate exercising.


#6

Get airmiles from someone and go see Dr Perlman at UCLA. There’s a hotel close just for patients. Ask about it when you make the appointment. She’ll know the latest research and drug developments on your disease. There may be a drug under development that you could try, although it sounds like all the dominant SCA’s are going to be the first under development. 33 drug companies have decided to develop new drugs. I see her once a year. Probably no one better in the country. She is this year’s keynote speaker at the national ataxia foundation’s conference. And go to the conference in Vegas. You’ll meet lots of others.


#7

I hear your optimism. I am glad that you see Dr Perlman at UCLA once a year. On the east coast, I see Dr Rosenthal at Johns Hopkins. I am supposed to go by the end of this month to start expanded study on BHV 4157 ( Trigriluzole ) for one year at a slightly higher dose than the phase 2 . An ataxia center is always better then any regular neurologist.


#8

Susan Perlman MD will be a keynote speaker at this years National Ataxia Foundation Conference in Las Vegas. The event will be held at the Flamingo Hotel, March 29-30.

See ataxia.org for full details. Search for National Ataxia Conference.
:slightly_smiling_face: xB


#9

I was about thirty when diagnoised, but as I look back imy Ataxia started earlier, like I couldn’t balance good, My mother said I stumbled all the time, etc. When I got married I was fine, then about 25 years ago I fell off a shovel while planting flowers. My Dr. sent me to a Neurologist and he did MRI. My cells in my Cerebellum were dead or dying. I started my holding onto my husbands arm, then used a walker. Now I use a walker in the house and my niece pushes me in a companion chair outside. The neurologist said I had idiopathic cerebellum Ataxia. None one in my family has Ataxia, I slid my feet like you were saying. It sounds like a broken record , but any exercise you can get.


#10

I forgot I am now 76 and it gets worse as time goes by


#11

Sorry to hear that you are having so many problems. I was going to a doctor in Chicago, Dr. Timothy Hain, and now living in AZ he sent me to his colleague Dr. Jeff Fife.
Dr. Fife and Hain are renown for their work with Ataxians. You might want to try and see one of them. They will work with you and listen to you. Also Dr. Fife suggested I attend the NAF Convention. He said I would benefit from meeting people with similar Ataxia as me. I have EA2 and possibly some SCA6 but I have not done the genetics test due to price. Check out these doctors and the convention. Being with other Ataxians with your diagnosis will be helpful Wishing you luck and better help. Here is the link for the convention. https://ataxia.org/2019-annual-ataxia-conference/


#12

Thank you for the Dr’s. names but I live in Washington state and would be hard for me to get there. My husband and Mother and Farther are all gone, livee= with my Niece who is my Caregiver also. I have not been to a convention, but did go to the support
groups by where I live. It does help to be with someone that has the same problems. I, like you, did not get the tests because of the high cost.

Carol Buckholtz (Juvie)


#13

:slightly_smiling_face: Hi Julie, It’s likely that ataxia.org will provide links to discussions after the convention, possibly on YouTube. It’s good to hear you contacted a local support group, this sort of interaction with people you come to trust can be invaluable :slightly_smiling_face: xB


#14

Hi Beryl
I feel I know you, even though we are continent’s apart. You have some real good in put. Thank you for the friendship.


#15

We may be thousands of miles apart, but we’re just one click away :wink: xB