I am 14 almost 15 and lately my eyes have been having these really fast and really slow movements so it really gets on my nerves. I went to the eye doctor and I got a prescription for my glasses. But even my glasses wouldn't help. It's been getting worse lately. I was tired and sick of it so I looked it up on the internet and I got spinocerebellar ataxia. The thing that bothers me the most is that it is a genetic disease but I don't "think" any one in our family has it. Please help me. I am so confused right now.

JUST REMEMBER YOUR NOT ALONE. THAT MAY SOUND OLD.BUT, THAT IS THE TRUEST STATEMENT I'VE HEARD. WE'RE ALL LISTENING.

hi. i don't have any SCA, but i have seen the drama 1 litre of tears based off of the diary of a young japanese girl who suffered from it. her name was aya kito. i was wondering if you could help me fully understand the different kinds of spinocerebellar ataxia, and if there are any kind of fundraisers i can help out with in the US. unfortunately, what i can do is quite limited, seeing how i am not yet an adult. please let me know if there is ANYTHING i can do to help.

BE INFORMED. THERE'S ALOT OUT THERE. THAT'S THE BEST ADVICE I CAN GIVE. YOUR NOT ALONE. VENT IF YOU NEED TOO.

Hi, My name's Julianna. I am 16 years old and i am a sophomore in highschool. i was recently diagnosed with spinocerebellar degeneration disease about 2 years ago. I'll be 17 this october. I kinda walk funny, and sometimes, i am looked at all the time or being talked about. Soon, doctors say i will need a wheelchair to get around. My muscle coordination has grown weaker and sometimes i can't pick anything up at all. last week, in the middle of class, i fell. And i ended up fracturing my knee. Some people laughed at me, called me 'retarded'. Some other people ran over to me, to ask if i was okay. I didn't know what to say, i was too hurt by the comment and the pain in my knee hurt so bad. It hurts sometimes, and i wonder why god gave me an incurable disease. I look at people complain everyday, that their feet hurt or their tired. Sometimes, i just wanna scream and tell them that they should stop being selfish and so needy. The other day my little brother, he's now 5, asked me why i walk like a penguin? i wanted to cry but instead, i smiled and told him it was because my legs hurt. He gave me a hug and told me i would be alright. My mom and parents support me at everything i do. And my girlfriend plans on staying with me till' the very end. Sometimes i wonder, would they ever leave my side? and i don't really know the answer, all i can do is just wait. Everyday i wake up, and i thank god that he's given me another day to admire the world and the beauty around me. To know that he still wants me on this earth, makes me happy. I work hard in my therapy and i aim to live past 40. Being diagnosed with this disease has changed my life and i see the world more clearly now. It can be cold at times, others it's great. My bestfriend and i do everything together. being how it's gonna be hard to walk soon, she wants to do a lot. It's fun though. For everyone that has this disease, don't give up. Fight it! fight it for as long as you can. It's hard, this i know. But it's worth it. Thanks for listening to my story.

your friend,

Julie

Hi everyone, i'm 25 years old and i have two boys, one's 3 and has just been diagnosed with SCA type 8, i'm going in tomorrow to be tested for it but i need to know now if he has it, and i gave it to him, does that mean i will develop it as well? thanks!

christina

Hi, I live in Battle Ground WA (Near Portaland OR) am 49 and was diagnosed with SCA 6 yesterday. I have not had the gene test yet but it fits my symptoms that were diagnosed a year ago as a small stroke. I have the drunken sailors gate, very minor speach, and hand impairment. I noticed at first that my signature had changed. I also have nystagmus (rythmic movement of the eyes) that is typical of type 6. I use forearm crutches to walk and am looking to get a perscription for dampening the nystagmus. I am still learning alot about this and it seems that this is a fairly new find in medicine. Has anyone heard of this more than 10 years ago? All we can do in make do and hope some day for a cure for our faulty genes. More importantly to me, I hope I did not pass it on to my 7 year old daughter and if I did, that it is cured before she hits 40. Good luck to you all.

You should first go to a neurologist first to be sure.. But if it is positive then don't lose hope..
you should try watching 1 liter of tears..
It's a drama about a girl with that sickness..

m Chhabilal From Bhutan suffering from this disease called spinsocerebellar atxia since 2002 but no doctors could cure my disease. Now i am becoming more and more disorder that i even cannot write and pick up the things.... too. what a drama is this?? i am waitting for tomorrow but tomorrow never ends............ how unlucky i am born in this world as a gay.......
thanks!!!!!

I am 46 and my 22 year-old daughter has just been diagnosed with SCA8. Today, the whole family went in for blood tests. My daughter has developmental delay, gastro problems, and is autistic. They aren't sure if that is from the ataxia or something else. The doctors think that I have mild ataxia on my left side. The only thing new that I notice is that my body is extremely fatigued at the end of the day. Sometimes, I feel as though I have run a marathon. The joints in my knees are stiff sometimes, also. It is definitely worse when I haven't had enough sleep. Did any of you experience this when you first started noticing things? What were your first signals that something was wrong? Thanks.

Dear Julie,

You are such a brave young woman. It must be so hard to be a teenager with this disease. Remember that while man looks at appearances, God looks at the heart. In my case, I think God afflicted my family with SCA8 to bring us closer to Him...to make us depend on Him for everything everyday. Hang in there, you are truly special!

Hi, My daughter has Spinocerebellar ataxia with cerebellar atrophy. She was diagnosed about 18 months ago although she didnt walk until she was nearly 3 and there was obviously a problem from the start. She is 12 now and still walking but is increasingly unsteady, falling lots, can't carry any drinks or anything, a puff of wind would knock her over. She uses a wheelchair at times. She has peripheral nerve pain and is on meds to prevent seizures. She is also Autistic.
She has asked me questions lately abot will she have it as an adult and of course I have had to say yes. I haven't told her about the cerebellum shrinkage because she wouldn't understand. I also can't tell her it will get worse and that it could be life shortening.
I am beside myself, it hurts so much to see her struggle.
I feel for all of you here who are suffering with this condition.
I really could use some friends who understand if that is ok with anyone?
thanks
april

Hi April,

My daughter has type 8 and she is also autistic. What type does your daughter have?

Patty

Hi Patty, I am so pleased to get your reply thankyou.
The doctors have not diagnosed which type my daughter has. Ella seems to be confusing the docs a bit. She has alot of the symptoms of Freidrichs (bad spelling sorry!) but she has been tested for that and it was negative. But, they then said that the test might be incorrect as it only tests part of the gene and it could be another part that is affected.
She has been wobbly since she walked at over 2 years of age. She falls lots, she struggles to hold a drink with out spilling it. She has peripheral nerve pain in her legs and arms. She has headaches lots and the cerebellum is shrinking.
Yesterday she got really upset because she knows now her condition wont get better and that is so hard for her and I have to say I am finding it so hard to watch her struggle.
Patty, what are your daughters symptoms if you don't mind me asking you? how old is she?
The doctors are also not sure if Ella's Autism is related to the condition or separate.
I really look forward to hearing from you.
Thankyou
april

Patty, I apologise, I have just reread previous posts and seen that your daughter is 22, sorry I am newish here and didn't think to read the post again sorry.
I have recently been told I have Chronic Fatigue. They are not sure if that and my migraine is related to Ella's condition as we don't know the sca number yet. I had a nerve conduction test which was fine unlike our daughters so maybe I am not affected. I don't know it is all so confusing.
april

April,

Do not worry---I had to go back and check to see what I'd written. Since that post, I have been diagnosed with SCA8, and my other two children are negative, thank goodness. Until all this came to light, I was convinced that I was suffering from chronic fatigue or something horrible. I was extremely exhausted, felt like I had a mild flu, my joints ached, and my legs were always very stiff. I read a post on another blog where a man with SCA said that stress, lack of sleep, and any kind of medication that acts as a suppressant (antihistimine, alcohol, etc) makes the symptoms of this disease 10x worse. I live in Houston, Texas, a petri dish for allergens, and I had been taking Benedryl every night to help me sleep. I promptly stopped taking it, and I tell you that I made a miraculous recovery by the next day. I still had the joint pain and stiffness, but my mind was perfectly clear and I was no longer tired. I felt really good for the first time in a long time.

In the mean time, I was finishing a Master's degree and having a hard time finding a job. The job thing completely stressed me out, because my money was starting to run out. I wondered if that stress was making my legs hurt so badly. I finally got a wonderful job. It took three days, but again I had a miraculous recovery. Now, my legs no longer hurt, but they are still a little stiff. It is such an improvement that I do not care!

The literature says that this is can be passed on by the father, but is most often passed down from the mother. Short of having a child die, there is no greater stress than watching a child suffer. It is my guess that you have the disease to a much lighter degree, and the stress you are under is causing your chronic fatique. There are 20-something different types of ataxias and some are worse than others. Do you know if your daughter was tested for the whole panel or just Freidrich's? If not, she needs to be. What about you? Have you and her dad gone in for testing? Do you live in the States? There is a lab here called Athena Diagnostics that have a patent on the SCA test assay.

Is a neurologist treating her? Have you seen a geneticist? A neurologist just diagnosed my daughter with SCA8 after her lab results came in, but she then referred us to a geneticist. My daughter has very few ataxia symptoms, hence, I think this is secondary and the majority of her problems (chronic gastro, small hands and feet, etc.)are caused by something else.

The doctors explained to us that autism is always, 100% of the time, caused by something, i.e., lesions in the brain, chromosomal abnormalities, birth trauma, etc. No one ever just has autism. There is a new, highly sensitive, chromosomal assay test that was developed in 2006 (of course, we had it all done when she was little, but nothing ever turned up.) We recently had the test run on her and this time it came back that she has a deletion on her chromosome 2. There are several kids with the same deletion, who also are autistic. Her dad and I just went back to have more blood drawn to see if she got it from either of us, or if it is a fluke. For some reason, they can't diagnose her correctly until they have that info. They do not know at this point if the chrom 2 thing is related to the ataxia.

I am so sorry that you have to sit there and watch your daughter decline. How horrifying! I think it is important that you are very honest and straightforward with her, but also very hopeful. There is always hope. I am here for you---it is great to have someone to talk to, so feel free to write whenever you want.
Take care,
Patty

Hi Patty, we live in the UK. Ella has seen a Geneticist and a Neurologist. The Neurologist diagnosed her from all tests including the MRI scans which clearly showed atrophy of the cerebellum etc between the MRI's.
There are not tests here for most of the SCA types. Freidrichs was apparently ruled out although they then said it still could be if it manifested itself in a different part of the gene.
They told us they couldn't test us for everything but did a nerve conduction test on me which was normal. Ella has extremely bad nerve function. The messages through her legs to her brain and back again were obviously impaired. Ella also has no reflexes in her ankles which both Richard and I do.
I do have Pes cavus in my feet and a high instep which has been causing me problems which Ella also has and I have scoliosis, so there are some links it seems but we have yet to pinpoint which type it is and therefore have no idea of the speed of the progression which is scary!
Ella takes Gabapentin or Neurontin for neuropathic pain and to stop seizures. I have oddly been prescribed the same drug for the awful migraines I get.
I don't know Patty, it is a bit of a minefield.
They are not repeating MRI's for now as we can only watch the symptoms but everyday I fear that I can see her getting worse.
I would love to mail you but I don't know if I put my email addy on here, others can get it to is that right?
Thankyou for speaking with me
april

April,

Perhaps you can ask your doctor is you can send a vial of your daughter's blood to Athena Laboratory over here to test for all types of SCA's. It is a heck lot easier than doing multiple MRIs, which ultimately cannot tell you exactly which disease is causing her problems. You can send her blood yourself for that matter, but it should be less expensive through your doctor (I'm not sure how your healthcare works). Through the years, I've sent my daughter's blood to France and Japan.

Talk to you soon,

Patty