Hello- I have SCA 6 diagnosed with MRI and genetic testing. I am 44 years old and diagnosed in September of 2017, as well as my twin sister. Crazy right?? We have identical symptoms. Our father also has SCA6, he uses a walker and his speech is pretty bad. I am a wife and mother of 2 girls. My symptoms currently include, poor balance, difficulty w/ speech and muscle spasms. I am still working full time until my coworkers figure something’s up. They probably think I’m drunk. I have not discussed this with my daughters as of yet, trying to find the “right” time. But is there a “right” time? Husband is super supportive. Thank you for allowing me to participate in this group. EH
Hi, and welcome ErinHry
Both you and your twin sister have identical symptoms SCA6 is said to be late onset, so I suppose you’ve just reached the age where it’s become obvious to you. Other people I know, were about the same age when they were diagnosed with SCA6.
If there’s a positive thing, SCA6 is the type that’s best understood.
Having a supportive spouse is a godsend Although It did take my own husband a frustratingly long time to be able to comprehend I actually had a problem
Although my own diagnosis is not SCA6 (still being tested) I can totally relate to the symptoms you mention, plus I have double vision and Nystagmus. These two symptoms seem to be variable to people actually diagnosed with SCA6. Out of four I know, only one has severe eye problems.
Opinions are divided about when to tell children about a possible genetic condition. Obviously, when a parent starts to exhibit ‘unusual behaviour’ and outsiders might comment, something has to be discussed. Initially when I was thought to have Epilepsy, felt obliged to tell my children straight away, because I wanted them to be able to cope if they found me having a seizure. As it happens, the occasion never arose, I fretted and worried needlessly because eventually that diagnosis was eventually dismissed
Stay at work, and carry on as normal, for as long as you can It’s likely, there will come a point when you realise yourself that it’s time to call it a day, if only because you become fatigued more easily. I know myself how challenging it became to work, look after children, run a home and cope with ataxia symptoms.
Best wishes to you and your sister xB
About telling your children, I think it depends how old they are - when they’re small, Mummy’s legs don’t work properly is enough but when they’re old enough to notice for themselves it’s different.
Work wise it might be advisable to let someone in management be aware (in confidence) so that the ‘drunk’ idea doesn’t affect your records - remember that they can’t sack you for a disability (which it may not feel like yet, but it would come under that in employment terms). Take care and maybe confide in a close friend?
Thank you Beryl_Park
My daughter has SCA8 and has been involved in a study at UCLA. New studies for Ataxia are going to be coming out. You might want to look into these studies. My daughter is responding well to her study and we are most likely going to try the other Studies, such as stem cell therapy and other therapies.
Hi- I have reached out to Mass General on 4 different occasions with little or no response. I’ll attempt once more, very frustrating! I’m glad to hear the positivity from you Stem cell is out of pocket- correct?
My son is 8 and he is aware of my condition but not aware there is a chance he could have inherited it. He looks after me. He knows when I am having a bad day and he checks on me. There was just a point where it was very noticeable, especially when I start choking. My brother and father have it as well so he is very aware that something is off about all three of us so we felt we could explain it. But once again, haven’t told him the chances of him having it.
Dear ErinHry, First of all, a HUGE welcome to this site! Although I don’t have SCA 6, I thought I had Sporadic Cerebellar Ataxia (idiopathic, unknown cause, symptoms 24/7, progressive). I was officially diagnosed 15 years ago, although I had extremely minor symptoms starting about 8 years before diagnosis. A few months ago I found out my ataxia is due to my having adult-onset Niemann Pick C disease, as I have a single Niemann Pick C gene and an unknown variant. It’s recessive, which means I got the NPC gene from one of my parents and the unknown variant from the other. Anyway, I talked to my grown son and his wife (they have three young, healthy children), as my son would be a asymptomatic carrier. I also talked with my grown daughter and her husband, as she is an asymptomatic carrier also.They are expecting their first baby in March. The only way my children would be effected (get ataxia) is if their deceased dad carried a NPC gene or varient also. And my grandchildren would be effected if my children’s spouses carried an NPC gene or variant. My neurologist says statistically this is highly unlikely, as what are the chances of two people marrying that each have an NPC gene or variant? I’m the only person in my family, as far back as I know, that has/had ataxia. NPC is extremely rare. Anyway, I asked them if they wanted to know about me and implications for them and they did. Anyway, they have been very supportive and calm. But my children are both adults, so they understand all this better than young ones would. Your ataxia is dominant, not recessive, so my advice is to educate yourself on all the hereditary aspects of SCA 6 and also talk with your neurologist and maybe a geneticist. Knowledge is power! My best to you…, ;o)
The new studies are not out yet. If it is a study there is no out of pocket expense. The doctor gave me a paper with the name of the studies coming out. I dont know if they have the same studies in your state. I am fortunate that our study is 3 hours away, the drive into Los Angeles is crazy but worth it. Hopefully the new studies my daughter is participating in will help others. The meds she is taking now has not been approved yet, but she is not getting worse but showing improvement. She could not play piano for a while but now she is able to do that again. I remember just going into my computer and looking for any study on Ataxia and just persisted and found this wonderful window for my daughter. Keep trying. Search for Ataxia clinics near you, there are some in the US, I am not sure how many, probably not enough. These are the ones that will be asked to participate in the Ataxia studies.
I have ataxia since ± 17 years and was officially diagnosed 5 years ago. Luckily it’s progressing slowly and I can still walk, albeit with a trolley to keep my balance. I’m 67 and still hold my job! I’ve told them straight away when I was diagnosed. Also I remind them daily that I have the “clumsiness disease”, every time I’m being unhandy. I knock things over, spill my food and coffee, dial the wrong telephone numbers due to my poor eyesight and touching the wrong buttons, due to lack of coordination in my fine movements. It makes me slow on the computer as well, having to correct my mistakes all of the time. I feel stupid and inadequate. However, I keep telling myself and my boss&co-workers there’s nothing wrong with the cognitive side of my brain! They still need me and want me, though they could easily have ended my contract when I turned 65. It’s very good for my ego and self-confidence. So just believe in yourself, tell your co-workers it’s no big deal, but you want them to understand your clumsiness and you’re not drunk!
When you went through your testing to find out what type you have did the insurance pay for it?
Hi there- Yes, at first it was denied but my genetics physician pursued it. My insurance denied it at first stating that the test was investigational and not medically necessary!
I agree with Mazy that what you tell your children depends on how old they are. I would tell them though and I would explain more as they age. I recall learning that we had ‘something genetic’ in our family when I was in high school. But I don’t recall being told much about it and it didn’t come up again for over a decade. Even then, not much was said. I wasn’t aware that I had a chance of having SCA until last year. Looking back, I really wish I had been aware of this and its implications. My siblings and cousins are married with children and as far as I know, most are not aware of SCA (but most have a 50/50 shot of having it). I think it ‘hits harder’ and hurts more when you learn about this as an adult, especially realizing that family members knew about it.
I also agree with Mazy’s advice for work. Speak with management and let them know. In addition to not being able to fire you for having a disability, they may be able to accommodate you (e.g., altering your role/duties, being more understanding if you’re having a challenging day and wish to leave early or call in sick, etc.).
All that said, this is my opinion and maybe I’d have a different opinion if I had known about SCA since high school. Either way, I wish you all the best. And if you did tell your children and/or work, I would be interested to hear how it went.
@Bookworm - Thank you for your advice, I found out about SCA at 44 years old due to my own symptoms. My husband had my father sign a medical consent and at that time he came clean and verified that yes he has SCA6. I’m torn, In a strange way I am glad that I did not know about this in my younger years and also upset that he never told me. I will tell my girls, my oldest is graduating college in May, I will tell her after that. I may wait until my youngest is out of high school. I don’t want to steal her childhood out from under her.
My boss (who is a physician) approached me the other day, he has noticed a change in me, he thought that I had MS. I did tell him. He advised me not to tell anyone else here at work.
Everyday is a struggle, some days better than others but always a struggle.