Hi Everyone I am new to the group. I am a mother to a 3 year old boy. He was recently diagnosed with Spino cerebellar ataxia type 6. I was wondering if anyone else on here has type 6. If so I have a few questions and would love to get your feed back. I have researched it a lot but can not find anyone that is younger that has been diagnosed with it.
We had the exome sequence genetic testing done. The genetics guy said that he did not get this from his father or I . That it just started in him, which does not make a lot of since to me, but I guess this can happen.
If anyone has anything that could help, any good tips or the right kind of doctor to see please please help.
I know there are quite a lot of people with SCA6 in the Netherlands, mostly with onset at an older age though, as far as I know. Maybe you can ask a neurologist about SCA6 in young people? I could give you some names in the Netherlands, but don't know any in other countries. Or maybe you could contact a rehabilitation centre for children with experience in ataxia?
I have SCA14, which was not found in my mother, and my father is not longer with us, so we cannot test his blood unfortunately. The geneticist also told me it could be that this is some kind of copy error when my DNA was formed, so I guess that's possible although it doesn't happen very often.
Anyway, hope you find what you're looking for. Wish you all the best!
Cristel
PS; have a look at www.ataxia.org, they f.i. have factsheets that might help you.
I am Maggie. I live in Preston and have CA SCA 2. There are some difrances abour the number yuo have, but I think doctor will tell you more.Contact Ataxia.uk, they can give you M.Hadjivassiliou address in Sheffild. He is proffessor with field ataxia.He will answer your questions.
I have SCA-6 as does my daughter. I am 65, but fear for my four grandchildren (5,7,9,10), none of whom are symptomatic. I never had to deal with SCA in young children. My thoughts are with you. Genetic expertise aside, trust your head and the research you've done.
you are right. In this age nobody has been watched to have the disease onset of SCA6. Maybe your son has got the mutation, was born with the mutation. But he seems too young for a SCA6-onset- of- disease.
In my family one of my uncles and an aunt have got SCA6. The disease started as they were 50 years old, with 23 CAG repeats. My uncle now is 80 years old and still not in the wheelchair. He has worked regularly till the age of 62 in a leading position. My aunt has got three children, up to date all without the ataxia (50+ years old). Up to date, nobody of the younger people in our family has got symptoms of the disease, except perhaps me, -i am almost 57 - but i am not sure that in my case i would have SCA6, because the test done one year ago was negative.My situation is special because i have had an allogeneic stem cell transplantation for leukemia and have got two different blood-sets.with 4 alleles. . In my case i suppose having one or two mutations for ataxia telangiectasia instead, but cannot get the testing actually..
Supposedly your son has had symptoms and therefore has been tested for an ataxia? Maybe he has got an additional disease which causes his symptoms (maybe the SCA6 mutation contributing a little, but this topic has not been researched)..
Have you consulted a specialist for ataxia in children? In my knowledge on the UCLA in Los Angeles they are specialized.
I am a SCA7 case since11 years. Last 5 year I am on BADAMPAK , which completely stopped the progress of the disease. Before Badampak , I tried very hard to stop it but could not. I heard it helps in SCA6 also. One teaspoon every day… It has no side effects as it is a Aruvedic brain tonic. If he got so early, then his CAG reapers should be very high. You can ask me any question but I suggest you should ask everything to a Neurologist. Most of information is available on internet.
Hi Bert, I'm sorry to hear about your little boy's diagnosis. My daughter has SCA but it has never been decided which type she has since there are not the tests developed for all of the types yet. She is 17 now but first showed difficulties when she was 11 months old. She saw a Paediatric Neurologist at the Evalina hospital in London which is the children's part of St Thomas' hospital. We were told that her condition was either hereditary in that my husband and I both carry a faulty gene or that it started in her which is what you were told about your son. Our daughter has now been passed to an adult Neurologist. When she was diagnosed we were told it was progressive and that she wouldn't be walking by the time she was 12 but she has defied the doctors and despite wobbling all the time and falling lots she can walk short distances now at 17 which is fantatstic! she has some shrinkage of her cerebellum and spinal cord but she is still struggling on and that's fantastic! i guess what i'm trying to say is is that although this is an awful condition lets hope that the doctors will be surprised by your son also and that his condition also progresses really slowly. I wish you the best of luck for the future.
Dear Wendy "Bert", A HUGE welcome to this site! You'll find much support and understanding here! Although I have ataxia (not SCA6) of unknown cause, I was 49 when diagnosed, and am 60 years young now. I hope you find the answers you seek for your son, as you sound like a very loving, caring mom! I wish you and your son nothing but the best!..., ;o)
Hi Bert, I'm sorry to hear about your little boy's diagnosis. My daughter has SCA but it has never been decided which type she has since there are not the tests developed for all of the types yet. She is 17 now but first showed difficulties when she was 11 months old. She saw a Paediatric Neurologist at the Evalina hospital in London which is the children's part of St Thomas' hospital. We were told that her condition was either hereditary in that my husband and I both carry a faulty gene or that it started in her which is what you were told about your son. Our daughter has now been passed to an adult Neurologist. When she was diagnosed we were told it was progressive and that she wouldn't be walking by the time she was 12 but she has defied the doctors and despite wobbling all the time and falling lots she can walk short distances now at 17 which is fantatstic! she has some shrinkage of her cerebellum and spinal cord but she is still struggling on and that's fantastic! i guess what i'm trying to say is is that although this is an awful condition lets hope that the doctors will be surprised by your son also and that his condition also progresses really slowly. I wish you the best of luck for the future.
April
Thank you so much for your responding! Your daughters case sounds like my son. He falls constantly and gets tired after short distances. Can she talk? or did she ever have problems with speech? My son can say about 30 words but not very clear. He knows what he wants to say but just can not.
Dear Wendy "Bert", A HUGE welcome to this site! You'll find much support and understanding here! Although I have ataxia (not SCA6) of unknown cause, I was 49 when diagnosed, and am 60 years young now. I hope you find the answers you seek for your son, as you sound like a very loving, caring mom! I wish you and your son nothing but the best!..., ;o)
I was wondering if you remember ever having signs of being off balance when you were younger or ever had problems with speech.
you are right. In this age nobody has been watched to have the disease onset of SCA6. Maybe your son has got the mutation, was born with the mutation. But he seems too young for a SCA6-onset- of- disease.
In my family one of my uncles and an aunt have got SCA6. The disease started as they were 50 years old, with 23 CAG repeats. My uncle now is 80 years old and still not in the wheelchair. He has worked regularly till the age of 62 in a leading position. My aunt has got three children, up to date all without the ataxia (50+ years old). Up to date, nobody of the younger people in our family has got symptoms of the disease, except perhaps me, -i am almost 57 - but i am not sure that in my case i would have SCA6, because the test done one year ago was negative.My situation is special because i have had an allogeneic stem cell transplantation for leukemia and have got two different blood-sets.with 4 alleles. . In my case i suppose having one or two mutations for ataxia telangiectasia instead, but cannot get the testing actually..
Supposedly your son has had symptoms and therefore has been tested for an ataxia? Maybe he has got an additional disease which causes his symptoms (maybe the SCA6 mutation contributing a little, but this topic has not been researched)..
Have you consulted a specialist for ataxia in children? In my knowledge on the UCLA in Los Angeles they are specialized.
Kind regards,
Akita
Thanks for commenting. The doctors had diagnosed him with Hypotonic cp too. But my husband and I are not sure now if he has that. Nothing happen during my pregnancy or birth so just not sure.
Can you possible ask your aunt and uncle if they now think back to childhood and if they realized there were signs of sca then. Like falling a lot or speech.
And I know you are a different case but what were your signs of ataxia earlier on in childhood?
Please take care of your self!!!
I am a SCA7 case since11 years. Last 5 year I am on BADAMPAK , which completely stopped the progress of the disease. Before Badampak , I tried very hard to stop it but could not. I heard it helps in SCA6 also. One teaspoon every day.. It has no side effects as it is a Aruvedic brain tonic. If he got so early, then his CAG reapers should be very high. You can ask me any question but I suggest you should ask everything to a Neurologist. Most of information is available on internet.
I will have to look into that medicine! Thank you so much! Anything helps! If it helps you hopefully it could do the same for my little boy! I will ask the neurologist!
Cerebral Palsy is often confused with ataxia-telangiectasia as the symptoms in small children often are not that characteristic to say for sure which disease they have got..
Dr Richard Gatti writes in his Review about Ataxia-Telangiectasia:
"Establishing the diagnosis of ataxia-telangiectasia is most difficult in very young children, primarily because all characteristic features are not yet present.
Ataxia-telangiecasia A-T is hereditary in a recessive manner. One mutation from each parent is said to be necessary for that the child gets the disease. But i have also read that sometimes the condition seems to be transferred from one parent to the child, and, furthermore, that SCA6 could appear in combination with one mutation for A-T (Such a single A-T mutation is not very rare,could be in 1:100 or 1:200 persons..)
What regards me, - i had some signs comparable with an ataxia in my early youth. Many falls; my speech sometimes not understandable (i was said to talk too fast), the other symptoms were clearly for A-T, but not such bad as it has been reported for the young children with "Zero-Mutations" for A-T.
From my uncle and my aunt - don`t know. But my mother was paralyzed/in the wheelchair from the 5-7 years. But this disappeared!
Has ataxia-telangiectasia been excluded for your son as a diagnosis?
Bert said:
Akita said:
Hi Wendy,
you are right. In this age nobody has been watched to have the disease onset of SCA6. Maybe your son has got the mutation, was born with the mutation. But he seems too young for a SCA6-onset- of- disease.
In my family one of my uncles and an aunt have got SCA6. The disease started as they were 50 years old, with 23 CAG repeats. My uncle now is 80 years old and still not in the wheelchair. He has worked regularly till the age of 62 in a leading position. My aunt has got three children, up to date all without the ataxia (50+ years old). Up to date, nobody of the younger people in our family has got symptoms of the disease, except perhaps me, -i am almost 57 - but i am not sure that in my case i would have SCA6, because the test done one year ago was negative.My situation is special because i have had an allogeneic stem cell transplantation for leukemia and have got two different blood-sets.with 4 alleles. . In my case i suppose having one or two mutations for ataxia telangiectasia instead, but cannot get the testing actually..
Supposedly your son has had symptoms and therefore has been tested for an ataxia? Maybe he has got an additional disease which causes his symptoms (maybe the SCA6 mutation contributing a little, but this topic has not been researched)..
Have you consulted a specialist for ataxia in children? In my knowledge on the UCLA in Los Angeles they are specialized.
Kind regards,
Akita
Thanks for commenting. The doctors had diagnosed him with Hypotonic cp too. But my husband and I are not sure now if he has that. Nothing happen during my pregnancy or birth so just not sure. Can you possible ask your aunt and uncle if they now think back to childhood and if they realized there were signs of sca then. Like falling a lot or speech. And I know you are a different case but what were your signs of ataxia earlier on in childhood? Please take care of your self!!!
The main ingredients of BADAMPAK are almonds, ghee and...? Whats the difference between home-mixed almond desserts and the Ayurvedic formula?Have you heard about people mixing their BADAMPAK at home? I like almonds and butter very much!
Perhaps it s the daily intake which makes the difference for the good long term results?
Children - although with similar genetic conditions- might be completely different. I agree with April that the attitude of her daughter is fantastic. By trial and error its possible to learn much if you are always "exercising" in this manner!.
Tiredness seems to be a common feature for a lot of ataxias. But this might appear in different grades and forms..
In my childhood and youth tiredness has appeared like an island,after a meal. Like my father and my brother i had to hold "Siesta", also in daily life from time to time.
Actually i am very tired. Had an infection recently..
This tiredness seems for me to be connected with a load of microorganism or the rest of them,like hemoparasites,and my condition is surely connected with a sort of primary immunodeficiency.- with other words:i have been borne with a weakness to respond with my immune systems to some microorganisms, which have affected me much more than usually this happens with other children,and so i have had a sort of disability from my babyhood on,with infections more or less caused by extra infections caught from my siblings, in school.. The "normal" childhood infections could probably adde to the underlying conditions, and so this is not an easy life for the mother/parents.
I am a SCA7 case since11 years. Last 5 year I am on BADAMPAK , which completely stopped the progress of the disease. Before Badampak , I tried very hard to stop it but could not. I heard it helps in SCA6 also. One teaspoon every day.. It has no side effects as it is a Aruvedic brain tonic. If he got so early, then his CAG reapers should be very high. You can ask me any question but I suggest you should ask everything to a Neurologist. Most of information is available on internet.
I will have to look into that medicine! Thank you so much! Anything helps! If it helps you hopefully it could do the same for my little boy! I will ask the neurologist!
