I would like to talk to someone who has a child who was born with cerebellar ataxia and is now around 25-29 years old and how they cope. What are their symptoms and how they cope. Do they also have cognitive learning disabilities? Are they developmentally delayed? Concerned Mother.
http://forum.livingwithataxia.org/group/parents-of-children-with-ataxia
Hello darjoy,
Check the link above. I do not know what the ages of the children are though…
Best wishes
CA runs in my familyy. I was officially diagnosed in November, I’m 34. My biggest problems are balance (I don’t use any assistance), and writing ( it’s messy but usually readable). 5 years ago I got my master’s degree. Cognitive was fine, now its hard to tell.
I have CA and don't have any cognitive problems,or pain or insomnia or swallowing difficulties.I am 55 and have had CA for 7 years.
I have a daughter with cerebellar ataxia from birth, but she is only 13 years old. The MRI showed atrophy to the cerebellum and she also has optic atrophy with low vision. She is in special education at school with learning disabilities and need assistance because of her poor balance. She has, what seems to us, to have cognitive delays and processing her thoughts and her place in space, being able to think critically, and has very poor handwriting and reading skills.
Because of her cerebellar atrophy, her ataxia affects everything from slurred speech, swallowing, intention tremors, some neck dystonia, walking, foot drop, incontinence, and other ways that require muscle movement and energy to do things. With this said, this is not to say she's not smart. At least from out world. True she speaks slowly with short sentences, but she does express things more age appropriate than we might believe. She does have excellent hearing, but the processing of information also goes through the cerebellum.
We have been in search of a diagnosis for most of her life, and doctors have been baffled, but only in the last year has it come down to the source of her issues: the Complex II in the mitochondria. That explains why her whole body doesn't have enough energy. The mitochondria is the energy plant of the cell, so if there are defects or gene mutations, that can affect the function of the body. But it can affect people in many different ways, come later in life or from birth, as we're learning.
Ellie is still with us at home, but she manages with our assistance and the assistance of a caregiver that comes in once and awhile just to give us a break. We assume that she will probably require a caregiver for the rest of her life, because these things usually don't get better.
Please tell me more about your daughter and what she is going through, because we can learn from your experiences as well. Does she have a specific diagnosis?
Welcome. And I agree, please share more, as it will help me learn more, too. My daughter has CA and the doctors are still trying to find the cause. She is only 8, however. Now they are testing her genetics for a Glut-1 deficiency.
She sounds very similar to “rogo’s” daughter.
Hi
I have been rold i have had A since birth but was only diagnosed 10yrs ago a trauma made it bad. I am fourty and a mum of 2 and married happily. yes school was not easy because i am dyslexic but i have had good jobs in the past and people and schools arw e so much more understanding and accomedating than they ever were.
goodluck
Hi, My daughter Ella is going to be 18 on the 1st February and has had symptoms of SCA since birth but didn't get a diagnosis until she was 18 months. I thought i'd reply to you even though she isn't 25-29 years old. Was it because you wanted to know how advanced the condition is in other adults your child's age? It can progress quite differently for all those affected. Ella is still walking a little despite us being told that by the age of 12 she probably wouldn't be. She is very unbalanced and falls over a few times every day. She has cerebellum and spinal chord atrophy and thinning. She has pes cavus and wears splints on her legs and has periods of extreme tiredness and can't stand for long or walk for long either. She has problems increasingly with her memory and finds retaining information to be very difficult. She does also take much longer these days to get her sentences out and often loses her train of thought. Ella takes Gabapentin and Coenzyme Q10 and ibuprofen to top up. if she is in pain. Ella is also Autistic which was diagnosed at the same time as her SCA. I am happy to chat further if you would like. I hope that speaking to other parents helps you. Best wishes
April
Hi Rolf: My daughter is 29 and has had cerebellar ataxia type 2 since birth and has been in 2 group homes. The first group home was not for her but the second group home she did well in but because of her mood swings up and down she would cry to me alot and told me that she didn't like to be told what to do and wanted to come home. That was the worse thing i could have done. She would have done better staying in the group home. She has always had one arm weaker than the other since birth and in the last month or so that other arm is becoming weaker and she couldn't use it like she used to. She has episodes of ataxia that become worse and get better on some days. Her thinking is very slow and her speech is slurred. She can still walk but she's losing her balance alot more and trips and falls every day. She does use a walker at work and I encourage her to use it at home, too. She likes to do things with other people and I have had other people come into the home to help her. We are going to go to North Dakota to try and get her fitted for a Balance Vest. I heard from other people with balance problems that it helps them walk better and some people even learn to write better. Joy went through special education all of her school life and went through special education after high school until she was 21.
Thanks for sharing about your daughter. She's the closest one that has similar problems as my daughter. You daughter is very special. Keep me posted.
Rolf said:
I have a daughter with cerebellar ataxia from birth, but she is only 13 years old. The MRI showed atrophy to the cerebellum and she also has optic atrophy with low vision. She is in special education at school with learning disabilities and need assistance because of her poor balance. She has, what seems to us, to have cognitive delays and processing her thoughts and her place in space, being able to think critically, and has very poor handwriting and reading skills.
Because of her cerebellar atrophy, her ataxia affects everything from slurred speech, swallowing, intention tremors, some neck dystonia, walking, foot drop, incontinence, and other ways that require muscle movement and energy to do things. With this said, this is not to say she's not smart. At least from out world. True she speaks slowly with short sentences, but she does express things more age appropriate than we might believe. She does have excellent hearing, but the processing of information also goes through the cerebellum.
We have been in search of a diagnosis for most of her life, and doctors have been baffled, but only in the last year has it come down to the source of her issues: the Complex II in the mitochondria. That explains why her whole body doesn't have enough energy. The mitochondria is the energy plant of the cell, so if there are defects or gene mutations, that can affect the function of the body. But it can affect people in many different ways, come later in life or from birth, as we're learning.
Ellie is still with us at home, but she manages with our assistance and the assistance of a caregiver that comes in once and awhile just to give us a break. We assume that she will probably require a caregiver for the rest of her life, because these things usually don't get better.
Please tell me more about your daughter and what she is going through, because we can learn from your experiences as well. Does she have a specific diagnosis?
Hi April: Thanks for replying. Your daughter sounds very sweet. Children with these problems are something special. Yeah, I guess I wanted to know how other adults around my child's age are affected with this condition. Joy is still walking but some days she's more wobblier than others and trips and falls more. She has cerebellar episodic ataxia type 2 where she gets episodes of ataxia on certain days more heavilier than others and than it gets better and than she gets another episode that we have to watch out for. Joy's cerebellum is atrophied but hasn't changed much in the 29 years she has been alive. I would love to talk to you some more about your daughter's condition. It does help to talk about it. My daughter will have to need care for the rest of her life.
Talk to you soon. Darla
April Austen said:
Hi, My daughter Ella is going to be 18 on the 1st February and has had symptoms of SCA since birth but didn't get a diagnosis until she was 18 months. I thought i'd reply to you even though she isn't 25-29 years old. Was it because you wanted to know how advanced the condition is in other adults your child's age? It can progress quite differently for all those affected. Ella is still walking a little despite us being told that by the age of 12 she probably wouldn't be. She is very unbalanced and falls over a few times every day. She has cerebellum and spinal chord atrophy and thinning. She has pes cavus and wears splints on her legs and has periods of extreme tiredness and can't stand for long or walk for long either. She has problems increasingly with her memory and finds retaining information to be very difficult. She does also take much longer these days to get her sentences out and often loses her train of thought. Ella takes Gabapentin and Coenzyme Q10 and ibuprofen to top up. if she is in pain. Ella is also Autistic which was diagnosed at the same time as her SCA. I am happy to chat further if you would like. I hope that speaking to other parents helps you. Best wishes
April
Hi Darla, my daughters type of Ataxia has never finally been diagnosed as the tests aren't available for all of them. At first it was thought that it was episodic in nature as there were times that she was wobblier than others although as it soon became obvious that she is affected all the time. She doesn't have any time at all where she isn't wobbling and pinballing off furniture etc. Her splints help her feet to be in a good position but they don't help her balance particularly although we are desperate to get her some more splints through appeal as they are rubbing very badly now. My frustration is that providing new splints for her will cost the NHS less than the surgery she'll need without them.
Ella has always been about 5 years approx behind emotionally to her peers and she was unable to pass any GCSE exams as she can't retain information. This has got steadily worse with progression and atrophy of her cerebellum. The 6th form school course she was doing since September went very badly wrong with their discrimination and total lack of understanding of how to support Ella despite their previous good reputation for working with special needs children. She has now left school as her anxiety and depression meant that she was so desperately unhappy. What lead to this is a very long and sad story of many failings on the schools part and once Ella lost her trust in them it just snowballed out of control.
I now need to try and find a day centre or possibly some sort of supported employment for Ella as she can't live in her room on her computer 24/7. I have a long term health condition and am also physically disabled and managing to help Ella with showering etc is getting harder and harder for me. Our direct payments are just about to be taken away as she turns 18 on 1st February. I am not sure how I will cope without being able to employ a personal assistant for a few hours a week.
Ultimately we will need to look for possible assisted living as well for Ella although don't get me wrong I don't plan on moving Ella out for the time being or for as long as she wants to be with us.
I am worried re supported employment opportunities as Ella can't stand for very long or walk far she is so wobbly she couldn't carry a cup of tea etc. in a cafe or work a whole day without needing a sleep etc. The future is worrying.
We have the Autism team working with us temporarily and hope they can point us in the right direction for opportunities available however as you will know there isn't that much out there for special needs even in this day and age.
We are waiting for Ella's latest MRI results, which is almost a pointless exercise as even knowing there has been further atrophy wont make much difference to us as there is still nothing available to slow or stop the progression.
I try to be positive that she at least has been affected more slowly than first thought would happen so that's great and although school has gone wrong for her she is much more like our happy Ella since she's not got that pressure anymore.
Does your daughter manage to work? if she does what type of work does she manage.
It's good to talk to you. I've been trying to encourage Ella to chat with others with her condition but she is reluctant to which I think is part of her own difficulty in accepting her disability.
Take care
April
darjoy said:
Hi April: Thanks for replying. Your daughter sounds very sweet. Children with these problems are something special. Yeah, I guess I wanted to know how other adults around my child's age are affected with this condition. Joy is still walking but some days she's more wobblier than others and trips and falls more. She has cerebellar episodic ataxia type 2 where she gets episodes of ataxia on certain days more heavilier than others and than it gets better and than she gets another episode that we have to watch out for. Joy's cerebellum is atrophied but hasn't changed much in the 29 years she has been alive. I would love to talk to you some more about your daughter's condition. It does help to talk about it. My daughter will have to need care for the rest of her life.Talk to you soon. Darla
April Austen said:Hi, My daughter Ella is going to be 18 on the 1st February and has had symptoms of SCA since birth but didn't get a diagnosis until she was 18 months. I thought i'd reply to you even though she isn't 25-29 years old. Was it because you wanted to know how advanced the condition is in other adults your child's age? It can progress quite differently for all those affected. Ella is still walking a little despite us being told that by the age of 12 she probably wouldn't be. She is very unbalanced and falls over a few times every day. She has cerebellum and spinal chord atrophy and thinning. She has pes cavus and wears splints on her legs and has periods of extreme tiredness and can't stand for long or walk for long either. She has problems increasingly with her memory and finds retaining information to be very difficult. She does also take much longer these days to get her sentences out and often loses her train of thought. Ella takes Gabapentin and Coenzyme Q10 and ibuprofen to top up. if she is in pain. Ella is also Autistic which was diagnosed at the same time as her SCA. I am happy to chat further if you would like. I hope that speaking to other parents helps you. Best wishes
April
Hi all. Just wondered how your children are getting on? What was their age at diagnosis and did they find the underlying cause?
My son is 4.5. The last 3 years his been have no tests, for ataxia, nystagmus amongst other things. His very wobbly and falls.
We have just found out his brain scan shows cerebellar atrophy and my heart is broken.
The plan is now to do some mitochondrial DNA gene panel tests, and a muscle biopsy. He is already enrolled on the 100k genome study. His had chromosomes and ataxia panel which were normal. They will repeat his MRI next year to see if sent further changes and if it’s static or progressive.
Hi🙂 I tried the above link, and it failed. This may be due to a recent change on this system. Look on Facebook, search ‘parents of children with ataxia’ and ‘parents with kiddos…’ There’s also a group for those who have children diagnosed with EA2, I know currently your child is still awaiting exact diagnosis but you just never know who could be helpful. I’m also a member of healthunlocked ataxiauk (wobblybee) and I’m glad to see you made contact with another parent on there.xB
1 Like
Thanks Beryl. I’ll have a look at those groups too xx