does anyone have experience of cerebellar atrophy? What is the cause/underlying Diagnosis?
My son is 4.5. The last 3 years his been having 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.
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Mango1983
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Oh Mango1983, I'm so so sorry to hear this. I don't know what to say. Your message left me speechless. Even more uncertainty knoked at your door - as though you haven't had enough. My thoughts are with you and I hope at the end all this somehow turns out for the better. xx
As I have said before on here we have no exact diagnosis. They feel our daughters case is something incredibly rare.
Always desperate to know what will happen next.
My daughter has had the muscle biopsy and as we are sometime in to this now we had the repeat mri which sadly showed more deterioration.
On one of the many piles of notes pure cerebellar atrophy ataxia is stated.
The word mitochondrial is also mentioned in a lengthy summary.
So although we have no diagnosis, we knew the outcome from the 1st mri once gosh looked at it. The local hospital didn't notice it.
Hoping for another mri in the Autumn.
I can't give you any advice on the medical front as we are always just hoping for a miracle answer. I'm not sure if you was told, but we was told at the beginning of our journey at gosh to prepare for the fact we may never find out answers or a diagnosis. This helps in the sense that when we go there we never expect to get a answer as heart breaking as this is. We just try to keep our daughter active and always be positive around her (even if I feel like curling up in a ball and crying)
If your lovely son sadly is similar to my daughter then if you need any advice on anything she has had challenges with since it all began feel free to ask.
Wishing you all the best and I hope the latest investigations you are waiting for at least give you some answers.😗
St Thomas did the MRI in march and we were told is was normal. Gosh reviewed it and I got a letter stating cerebellar atrophy. I've always known it must be his cerebellum due to his symptoms. But we won't know how progressive it is until his next scan. He had a MRI at 2 and it was also reported as normal. Just feel like I don't trust the hospitals now. Yes the doctors have always said his a mystery and may never get a diagnosis. I just worry he may have shorter life expectancy or become wheelchair bound. The odd thing is he didn't start walking til 33 months and has slowly made progress. He can now walk and run although very wobbly and falls. So he has made progress but it shows atrophy!?
Did your Saturday Greta muscle biopsy reveal anything? Are the continuing to test Xxx
I felt it sounded not a nice procedure and her father and I was in disagreement over whether or not to have that test as by this stage we already knew it was progressive and life limiting. I backed down and she went and had the procedure. I wish so much that we hadn't put her through another test. Especially as it drew another blank.
However I don't think our story should stop you going for it as everyone is different and you may get a much needed answer from it.
No more tests planned. Our only real hope is maybe some more gene tests, but gosh our unsure if the lab will test as we are too on the genomes study.
We are a year and 4 months into the three year study. So still a way to go yet.
Keep pushing on, as do we.
I have everything crossed for you.
Maybe see if gosh will see you to explain the letter as they can make for upsetting and mind boggling reading!🤔
As I said earlier, fire any questions in my direction we may of had a certain test, heard a certain word etc.
Thank you. Excuse all the typos and auto text. Happy 7yh birthday to your daughter for Tuesday.
We've 3 years of tests. They did bloody odd, chromosomes, Ataxia gene panel and lumbar puncture all normal. This MRI is the first positive that's showed anything. He had it in march but only found out this week. I've spoken to gosh who apologised they thought I knew. But I'm also grateful to them as If they didn't second opinion them we wouldn't have known. It was actually the audiovestibular consultant he saw at the balance clinic at gosh who was so thorough with him.
He is on the genome study but they have agreed to send the DNA for mitochondrial gene panel in the meantime. I hate to put him through more tests but I need to know
What other symptoms does your daughter have? Was she well and walking prior to her illness?
Henry met all his milestones til age 1, then I felt something wasn't right.
I think you said you're in Essex, we have a caravan there but are in Kent. If you ever fancy meeting for a cuppa! X
It is indeed the not knowing that is awful. I, as probably you do go over and over parts of her life trying to work out what happend.
My daughter has always been clumsy. I had mentioned various concerns over the years to health visitor, opticians, doctor and school nurse. All of whom basically fobbed me off.
My daughter apart from having scruffy large hand writing and was clumsy appeared to be developing as all her peers. It was only when she reached 5 and almost 2 months that things took a turn.
She complained of a earache for 3 weeks, we went to and from the doctor's and local hospital at the end of this time she never walked unaided again.
It was a huge shock (still is). Her speech is incredibly slow now. We understand her and most others do but is world's apart from where she was.
She is still learning. Her reading age at 5 was 8 years 2 months which was advanced but in the last year I wouldn't say it has improved.
We feed her every meal it takes up quite a bit of time. She doesn't have the co-ordination to manage it. She falls over continuously whilst even sitting. We also have to change her up to 4 times a day as she keeps having accidents now.
Whilst this may seem depressing, She honestly lifts me up in the darkest of days and is so determined to do everything. I couldn't be more proud to be her mum.
Maybe we could meet minus the children first. (If that's possible?)
As my daughter's know nothing about the In's and out's and we wish to keep it that way to keep positivity.
This week must of been such a shock for you. Hope you have some good people around you
ok! Carly I have just arrived on this site after being diagnosed with Ataxia. Read my reply but that was before I read this. I have worked with children who........
Wet themselves.... because their nueral pathways are so long by the time the messages say "I need a wee" they have done it. Slow to process.
Brilliant at reading as it just goes in. that's why these children were thought to be bright but they all ended up with bad behaviour due to avoidance strategies.
Can not write... Very bad fine motor skills due to lack of co ordination. Eyes are tested for distance. A child can not write if eyes are not co ordinated.........One exercise is throwing a beanbag from left to right.
Eating...............the same.
Speech...........they have low muslcle tone and lack of co ordination. I had 6 children (one unable to understand) all had speech therapy as this showed.
Children fell off chairs or laid down when it was carpet time.
The problem I had was that all the experts don't look for Motor skill difficulties, I was trained by a doctor and educational therapist. A phisio says it is the lowest funded so they don't bother.
All my children are back on track now. My book called "Dancing with dyspraxia" I am now thinking of writing one called "Cant dance I've got Ataxia"
Sorry for the delay in responding. It was my daughter's birthday and seems as though I have been wrapping presents or building toys for day's!
Some of the things you mentioned are relevant and understandable to us.
It would be fantastic if you write your ataxia book as planned. I would definitely be in the queue to read it. Thank you so much for taking the time to offer information.
Please keep us posted on the progress of your book.
I am not trying to sell my book which I wrote after working for over 25 years with children with special needs. I realized that all children who were SEN had Dyspraxia and then Dyslexia. I started an exercise programme of exercises to co ordinate the left and right body and this made the brain work. Children who wobbled, couldn't walk, no longer struggled with learning difficulties were stopped (not aloud to say cure but they were ). I now have Ataxia but I do it everyday and can do the same as I did when I If you need help I will send my things free.
Hi, I'm new hear and I'm sorry for your children, my english is very bad ,I hope you understand what I try to stay.
I'm italian and my husband has cerebellar ataxia, diagnosted 30 years ago, now he' s 60.
We discovered 5 years ago that it has a relation with celiac desease, He is on a gluten free diet, even if it didn't stop the ataxia.
4 months ago we found out that a vitamin therapy ( vita B1 ) helps a little, an italian doctor cures Parkinson desease with many good risults ,He had cured patients with Friedreich ataxia. you can read about him and his patients on healthunlocked search for Costantini a Parkinson. My husband is having a little improvement specialy on speech. You can email him , ask questions about your son's problemi.
I'm so sorry for my english I'm not able to explane better...
Thanks so much for the email address I will message you over the weekend and see if we can meet one day.
I know children can be incredibly unkind.
I would say though at school my daughter is very popular and touch wood has had nothing awful said to her. They even have drawn up a list as to who gets to stay in a play with her as everyday they would all squabble over her! So try not to worry about it.
It's more people staring at her when we are out that is the problem.
I'm pleased you have a great family around you. My partner, has burried his head in the sand about it all. So maybe both men are the same and in shock.
I definitely will be in contact. Shame we are chatting under sad circumstances but hopefully we will help one another and find answers.
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