Undiagnosed Ataxia

[Mango1983]

Hi My son is 4, and has an 'Ataxic gait', but he has no diagnosis.

He has had lots of tests (2 MRI of brain & spine, lumbar puncture, ataxia gene panel, chromosomes, bloods etc) all which are normal. We are running out of things to test, we are awaiting the Genome 100k clinical trial which takes years. He is under a team of specialists (paediatricians, metabolics, neurologists, genetics) He receives speech therapy, physio, hydrotherapy. We are awaiting a referral to the balance clinic at great ormond street.

His history: We did have a difficult birth, but all was well, aside from colic & reflux.

He met all his milestones until the age of 1, he had several bad viruses and was unwell.

I noticed his development plateaued, and at 18 months when he wasn't walking we took him to the GP. thats when all the tests started.

He finally walked on his own at 33months, and after a slow and steady time he is now doing well. He is making great progress and now walking unaided, he is just very 'wobbly' and falls alot.

He had two small holes in his heart (PFO & VSD) which have now closed.

He has hypotonia, hypermobility, brisk reflexes.

He has a mild speech delay.

He has Strabismus (eyes turn inwards)

I cant ask for more, in terms of his progress, the therapies and help he receives, and the doctors trying to find a diagnosis. He even receives DLA for high mobility.

But for me, Id just love to know, so we can find out what caused this, a diagnosis and prognosis!

So, does anyone have Ataxia without a diagnosis?

Thanks x

[cjpotter]

Hello, we have no diagnosis for our daughter. She is 6 became unwell oct 2015. Within 3 weeks she never walked again. We are also part of the Genome study and have gone through many of the tests you mentioned. I completely understand your needs to find out what the cause of your sons conditions are. We was told that their is a strong possibility we will never get a diagnosis although at one point a type of cerebellar ataxia was mentioned. We are just trying our very best to make the most of life. And luckily for us we have the most determined and inspirational daughter that makes us get a grip when we may dare to wobble! I wish I could offer help and more information for you. All I can say is that feel free to fire questions and let off steam in my direction if you need to as I am in a very similar situation to you. Best wishes to you and your family x

[Mango1983 in reply to cjpotter]

Thank you for your reply. What was she unwell with?

We also thought Cerebellar Ataxia, but both his MRI brain scans have been normal.

Where abouts are you from? We live in Kent, near London.

[cjpotter in reply to Mango1983]

Hi, I live in Brentwood, Essex so not far from you. It all began with a earache believe it or not. Our 1st mri they told us was fine it was only when a new set of eyes looked at it that everything changed. My daughters cerebellum has shrunk and is surrounded by fluid. We are under the local hospitals and gosh. We are also trying to get another opinion altbough I know everyone is trying their best. X

[Mango1983 in reply to cjpotter]

Hi how are you and you're daughter doing?

We just had the balance test at gosh. They were really thorough, and it showed nystagmus which they think is of a central cause.

Whichneuro are u under at gosh? I've asked my p to refer for a second opinion. His neuro is currently at st thomas, and just says his a mystery.

[cjpotter in reply to Mango1983]

Hi,

We are plodding along exactly the same as when we last had contact. But thank you for asking. I am pleased you found gosh thorough. We are due to visit again in a couple of weeks. Will let you know of any developments if any.

Our consultant is Dr Kaliakatsos.

Do you know what your next plans are?

After obviously researching many possibilities I do recall vaguely reading the word nystagmus but am not clued up on it. Is there a treatment? Preventative treatments?

I do hope it's not all doom and gloom for you both. Take Care.X

[ddmagee1]

It's very difficult to deal with this when you don't have a diagnosis. As a child, I had a terrible gait, was uncoordinated, and made fun of, because I couldn't walk straight. It sometimes takes the doctors a long time to diagnose, especially when many factors have to be looked at, in order to make the diagnosis, such as familial genomes, hereditary history etc. My best advice would be to continue with testing and try to be patient. Also, it doesn't hurt to get different doctor's opinion's, sometimes. In my case, I was eventually diagnosed with Ataxia, but not until I was an adult. Best wishes to you, Mango1983.

[Mango1983 in reply to ddmagee1]

Thank you for your reply.

What type of Ataxia do you have?

It is a long process, and its only been 3 years. x

[ddmagee1 in reply to Mango1983]

It turned out that they suspected I had childhood non-paralytic polio that affected my legs, because I had to wear braces at times, when I was a kid. The Ataxia has been diagnosed, by a neurologist as part of a neuro-degeneration in my brain, that has now led to a diagnosis of Parkinson's Disease, by the movement disorders specialist neurologist. Currently, I take levodopa 3 times a day.

[Mango1983]

Thanks for your reply. He definitely has a walking and balance problem, they just do not know the cause.

[Mango1983]

CAN ANY RECOMMEND ANY ATAXIA SPECIALISTS FOR CHILDREN? I DONT MIND PAYING & GOING PRIVATE. HE IS UNDER NEUROLOGY, METABOLICS AND GENETICS AT ST THOMAS LONDON ALREADY.

[Chris020485]

Hi my name is chris and I am 32 years old. I kind of received my diagnosis yesterday after about 5 years of testing. And they said it was more than likely ataxia associated with the autosomal recessive sacs gene, which normally effects infants and young people. It affects my balance and co ordination, also I have to see an ophthalmologist with my eyes slowly moving in a ratchet movement . I thought this mite be of some use.

[Mango1983 in reply to Chris020485]

Thank you Chris. It is such a long process. Weve had 3 years of tests.

Henry is also under Opthalmology, for strabismus (eyes turn in) and nystagmus (shaking of the eyes)

[Chris020485 in reply to Mango1983]

Yes that was the name of the problem I have (Apparently) nystagmus. I know as a parent how you must feel, as my son who is 9 has medical problems associated with his downs syndrome, but they can't link it to ataxia. I met a genetics person in oxford who I had to travel from Burton upon trent for my appointment for.

[Sunshinebright16]

My daughter is 9 and has ataxia, she also went through the usual batch of testing you mentioned and all came back normal, she had the basic genetic testing which came back as normal. She has nystagmus, delayed development, and hypotonia. we took part in a research study called the Dechiphering Developmental Delays (DDD) Study where there took saliva samples, from us all, about 1.5 years later we were told that they had found a mutation in one of her genes the (SCN8A) gene. this was later verified in the NHS lab, since having a diagnosis, we still have no information, the only information out there relating to the same gene, is for a gain of function which causes epilepsy, but she has a loss of function which causes her problems.

[Mango1983 in reply to Sunshinebright16]

Hi apologies for the delayed reply

I hope you and you daughter are doing well

I don't believe my sons is genetic as the ataxia gene panel & chromosomes were normal, although we are enrolled on the 100k clnincal trial.

I think his is acquired, from when he was unwell aged one.

All of his symptoms point to the cerebellum, brisk reflexes, hypotonia, ataxia, broad gait, galls, balance, nystagmus. But yet his MRI were normal

I've requested a second neurology opinion, to see if there are any other tests they can think to try.

Wishing get you all the best.

[MajaT]

Hi Mango1983, any news about your son and asking for neurologist's second opinion? I’ve been reading your posts quite a lot, as those of other parents with children with ataxia (especially those undiagnosed). I'm a Mum of a 2.5 year old daughter who hasn't been diagnosed yet. She has had some form of ataxia since March this year. She's been through a lot of tests, MRI and CT (head and abdominal) - twice, dna testing for all known ataxias, lumbar puncture - twice, EEG, ECG etc etc. All test results came back normal. During the onset of her symptoms she 'just' had tremor in her left hand and was a bit wobbly on her feet. In the hospital doctors thought she had tumor on her brain. After first round of tests we were sent home, doctors were saying she probably had postviral ataxia although they couldn't find the virus or anything else. They said she'll recover in a week or two. She then slowly started getting worse and worse. After 2 weeks she couldn't walk anymore, her speech was affected, her eyes were crossed and her eye movement was strange, and she started having some sort of absent episodes. We went back to hospital when doctors said that she might have episodic ataxia so they decided to give her a medicine which appearently helps with episodic ataxia type 2. After two weeks there was no improvement. They then took her off the medicine. She was seen by a team of neurologists in Slovenia, her test results and videos of her were seen by doctors in Japan and Croatia. They had some suggestions on diagnoses (myoclonus opsoclonus, neuroblastoma etc) but none of it was ever confirmed. Meanwhile, she's been having physiotherapy, and we're still waiting for the ophtalmology app, as well as for speech and occupational therapy (it has been quite disturbing to wait for these app for such a long time). I've been trying to push these app but I've had no luck with it. We just applied for the DLA as well and we're also a part of the 100000 genomes project.

On the other hand, my daughter's condition has improved quite a bit in the last two months. She is now able to walk but still very wobbly and falls a lot. Her tremor is not so bad either. It also seems she's learned how to live with her condition and it's quite rewarding for my husband and myself to watch our little girl be so determened.

Otherwise, we live in Edinburgh, Scotland and our hospital is the Royal Hospital for Sick Children (neurology dep).

I've really appreciated your posts here so I wanted to say... Thank you!

Maja

[Mango1983 in reply to MajaT]

Hi Maja

Still no luck with a diagnosis on our side. He never walked then stopped. He didn't take first steps til 33 months and has slowly made progress. He now walks but very unbalanced. He has nystagmus, strabismus, Ataxia, htpermobility, hypotonia. All signs point to cerebellum which was normal.

However just today I'm so confused. Great Ormond street said they review 'normal' MRI from march. I got home to a letter today which said it shows cerebral atrophy. I'm so angry they missed it in march, put it in a letter with no phone call and what it means!? I've been trying to get hold of his docs but no luck as late so will try tomorrow. But I'm also thinking there's a typo in the letter as so brief and maybe missed out 'no' as in shows NO cerebellum atrophy. Will have to wait to tomorrow for more info now

I hope you manage to get some answers for your daughter too. It's such a long worrying process x

[Mango1983 in reply to MajaT]

Hi maja I also meant to say we'll done on getting so many tests and things sorted in such a short amount of time. It's taken us three years to have the same amou t. You definitely have to be a mummy warrior and push! X

[MajaT in reply to Mango1983]

Thank you so much!

[MajaT]

Hi Mango1983, I'm so sorry to hear about your letter today. My heart just sank when I read your message. I could almost feel your anger and frustration, it was probably so 'alive' for me as I've put myself in the perspectice of recieving your letter. I hope you get some 'good'news tomorrow and NO for cerebellum atrophy.

This whole experience has been overwhelming to say the least. I wish you and your boy all the best and some answers soon. And please feel free to be in touch with any news. x

[Mango1983 in reply to MajaT]

Thanks Maja. Your words mean a lot. Will update once I hear. If could be a life changing day. Typically I start a new job day.

I just reread your earlier post. I've read a lot about post infectious Ataxia. Apparently there is no test that can prove that's the cause.

Henry met every milestone til age 1. He was sitting 5 months, crawling at 9 months, cruising at 10 months. At 11 months he had a bad bout of bacterial infection tonsillitis. I took him a&e 3 times, the first two they said it was viral and no antibiotics. The third trip they confirmed bacterial and gave Antibs. I'm convinced something happened around this time as his progress halted. He would then crawl and fall on his face.

Out of interest, how did she get seen in Slovenia etc. Did you pay privately?

Also, good luck with dla. We couldn't apply til his was 3. It was rejected twice and being taken to a tribunal. On third appeal he received it, with higher mobility (which entitles you to a car & blue badge) and middle rate care until he was 5, which is January and would have to completely reapply again. Get as many supportive letters from her specialists as you can.

Xxx

[Mango1983]

spoke to his neurologist today who had the scans reviewed again today at st Thomas and it does show mild atrophy. There is fluid around the cerebellum in comparison to the one two years ago. They don't know his progressive it is til his a repeat scan a year after, in march next year. It could be static stays same or could be progressive and deteriorate more. In the meantime they are testing him mitochondrial disorders and a muscle biopsy, to see what's causing the atrophy. So still lots of unanswered questions. It is devastating but I'm feeling remarkably ok. Not sure if I'm in shock or denial. But I've known for so long there's something wrong with his cerebellum. I just hope it's not progressive. So just have to wait now. But his fine and happy and knows no different just have to keep strong! X

[MajaT]

Hi there, children are remarkable - they are much stronger than what we think. Resiliant as well! I'm glad your son is ok within himself, at the end that's most important. You asked me about Slovenia - I'm half Slovenian but that was not the reason for getting an app with neurologists there ;I have very good friends there who arranged for us to come to the pediatric clinic where 12 neurologists saw our daughter. They were very interested in her as she had very unusual onset of symptoms. And, through another friend, we sent test results to one of the doctors in Tokyo.

If you need any other info please let me know!

I wanted to ask you about your son - would you say that he's now much better than few months ago, or a year ago - regards to all symptoms?

Thank you Mango1983!

xx

[Mango1983 in reply to MajaT]

Yes he has always continued to make progress, at a slow and steady rate,he has never regressed. He hit all milestones prior to one, he walked at 33 months and since then has made a slow progress. He Now walks ands runs but very wobbly and falls. However his balance has never improved greatly.

He has a mild speech delay and overall delay. He is definitely getting better.

However new symptoms,, such as nystagmus (jerky eye movements) have only become apparent recently.

This is why it's odd that his MRI now shows atrophy (shrinkage/deterioration) now, but his scan two years ago was normal but he wasn't even walking at all?

It's such a long long process. But only time will tell. X

[MajaT]

I know, some things just don't make any sense. For us, it's been a bit different and a big diff is that this situation has been ongoing for the past 5 months - if comparing with your situation and I sincerely feel for you. Please, could you just tell me if you asked on your own for a second opinion or was it a neurologist? And how many MRI scan did your boy had / with gaps how long in between?

Our daughter also had nystagmus for some time but it stopped, now it's 'just' a severe strabismus (crossed eyes). And she's very sensitive to bright light. When she had it some doctors thought she had myoclonus opsoclonus syndrome, but they rulled it out eventualy. Regards to the coordination she's slowly getting better - she can now walk as well, and run but she is wobbly and falls a lot. Before, she couldn't do any of these things. Her speech is affected too - it fluctuates from a very high tone to a very low/quiet, and mostly others can't understand her, but we can - most of the time.

You know, someone ones told me - if you weren't such a good parent and didn't work hard on your child's self confidence, he/she wouldn't go through this with such a positive additude - and that's what I believe as well..

Please, keep in touch Mango1983!