4yo undiagnosed Ataxia

[Mango1983]

Hi I'm new here. And have a 4yo son who the geneticist says has Ataxia. We are still waiting on an Ataxia gene panel results (it's been 6 months!). So we don't know what type or cause/why he has Ataxia. If it will get better or worse. So many unanswered questions.

He was born and all was fine he met all milestones. At 18 months he wasn't walking and referred to hospital. Since then (2.5 years ago), he has numerous tests and all normal. He started walking at 33 months. He has hypotonia, hypermobility, Ataxia. He has global development delay, mild speech delay. Strabismus and he had two holes in his heart which have closed. He falls often, is wobbly and although can walk few steps on his own he uses a walker

I'm not sure what response I expect, just to vent really. Are there any others with children who are undiagnosed?

[Hope99]

Hi Mango1983,

Thanks for sharing your story. I'm quite new too. Please do vent away, this community seems to be about support and sharing.

I think your thoughts about having so many unanswered questions will resonate with many here, it does with me.

X

[Mango1983 in reply to Hope99]

Thank you xx do you have Ataxia?

[Hope99 in reply to Mango1983]

No, I don't have Ataxia but there is an inherited unidentified Ataxia in my husband's family. It means there are a lot of unknowns about my husband's future and that of our kids.

X

[wobblybee]

Hi🙂 Why don't you join the Caregivers Support Community on Facebook🙂 I'm a member of livingwithataxia.org and that's how I found out about the community🙂 You may come across helpful information and advice🙂xB

[Mango1983 in reply to wobblybee]

Thanks. I'll join up x

[AnnaP2016]

Thanks for sharing your thoughts. I am sorry that your child has developed symptoms at such a young age... Just wonder if your child is also taking part in the 100k Genome Project? I was recruited because my ataxia is unidentified. The project will do whole-genome analyses and I'd bet they need as many participants as possible since they are trying to identify new genetic sites. I have sensory and attention problems when I have an episode (I have EA), and I would avoid socialising because I found it overwhelming. I wonder if your child's learning difficulty can largely come from lower level attention problems? There is no psychology research that I know of regarding to children with Ataxia, but I wonder if introducing a calm environment without too many distractors can improve his focal attention therefore learning... I hope he gets better each day and learn new ways to navigate this world. Here is the link to the 100k project if the result of the genetic analyses comes back inconclusive. genomicsengland.co.uk/takin... All the best x

[Mango1983 in reply to AnnaP2016]

Thanks very much. His geneticist is awaiting the Ataxia gene panel results (from July) and if they come back normal they will enrol him on the genome study. It apparently takes years to get the results too.

I agree, he finds unfamiliar or crowded situations overwhelming also. He doesn't like parks, rides, soft play. Things other children his age enjoy. As I think he prefers to keep his feet on the ground.

As he also has a speech delay it's difficult asking him to describe how he feels.

All of doctors agree his walk is ataxic, we just don't know why.

He had a wide broad gait, and walks like his drunk. He falls and we call it wobbly. He is like this constantly, even at calm situations at home.

Thank you your advice.

Wishing you well x

[naturegirl276]

HI! I have a 3 year old who has some of the same symptoms- was hospitalized at 2 years old for ataxia, has low muscle tone, flat feet and mild joint hypermobility. All of his tests came back ok- we went through genetic testing too and yes, it took forever to get the results back! Hardest thing was not knowing those results right away! Anyways, about a month after his ataxia symptoms came about I came across "gluten ataxia" while doing some "googling." I took him off of gluten right away and his balance slowly got better. It took a few months, as gluten can stay in the body for up to one year! He is on a really strict gluten-free diet... even the slightest bit of gluten seems to trigger symptoms again. His doctors weren't "on board" right away with the gluten thing and that was fine- I wasn't 100% sure it was gluten and wanted to keep checking out other possibilities. But now, both his pediatrician and neurologist are like 90-95% sure gluten is the cause and that he is gluten intolerant. He even carries one of the "gluten genes." Not sure if this a possibility for your son but I wanted to share my story since gluten ataxia is sort of a rare thing and many doctors don't think of gluten being the cause for such neurological symptoms.

[Mango1983 in reply to naturegirl276]

Hi many thanks. I could give this a try. Did the genetic results or tests confirm gluten Ataxia?

Coincidentally today we got his Ataxia gene panel results and they are normal. He will now go the genome study and is having an MRI next month.

X

[naturegirl276 in reply to Mango1983]

The genetic testing he had done didn't look for the gluten gene. They were mostly looking for genetic/hereditary ataxias and movement disorders. I asked his neurologist to submit the blood test for the gluten genes. The test was labeled "HLA CELIAC DISEASE TYPING" and it came back showing that he has one of the HLA-DQ variants associated with celiac disease. Doctors don't think he has Celiac, though. His is more of a gluten intolerance. Anyways, he carries the HLA-DQ2 gene. There is also a HLA-DQ8 gene associated with celiac disease/gluten intolerance, along with some others they are now finding out about. But just because someone carries one or more of these genes doesn't necessarily mean they will have a gluten problem. Obviously he got the gene from either me or my husband and we are fine consuming gluten. But it just proves even more that our son's issues stem from gluten, since having the gene means he is at higher risk for a gluten problem.

[naturegirl276 in reply to Mango1983]

And that's such great news that his ataxia gene panel came back normal! Even more reason to maybe try a gluten free diet!

[naturegirl276 in reply to Mango1983]

How many MRI's has your son had? Did any of them show white matter?

[Mango1983 in reply to naturegirl276]

Ps just reread his results came back ok. How is he now? X

[naturegirl276 in reply to Mango1983]

He's doing great! Balance and "wobbliness" only seem to present themselves if he's been "glutenized" or (we just found out) when he's sick and immune system is down. May be, too, because some small amounts of gluten are still in his body.

[Mango1983 in reply to naturegirl276]

My sons balance is bad all day every day. But definitely Worse when his been unwell.

I'll give the gluten a try. He had colic and reflux as a baby.

He had an MRI two years ago which was normal. They repeating it to check the cerebellum.

He had a lumbar puncture too. Every test his had has come back normal. They say his a mystery.

[naturegirl276 in reply to Mango1983]

Wow- your story sounds a lot like ours. My son was also colicky and had reflux as a baby. He was on reflux medication for just a short time- his reflux was more of a mild case. Probiotics helped with the colic.

He had a lumbar puncture, too, along with a couple of MRI's. The MRI's were normal except there was a little bit of "white matter"- which I've read could be caused by gluten when doctors don't have any other explanation for it. All of his bloodwork/urine tests came back pretty normal, too. He has low iron, which he's taking an iron supplement for and occasionally has a little bit of a hand tremor but, over all, his balance is a lot better (nothing like it was a year ago) and his hand tremor isn't as bad as it used to be. He is developing just fine.

I'd definitely give a gluten-free diet a try. You've got nothing to lose. It's not the easiest thing to do but totally worth it if it ends up helping your son. It's basically clean eating, which is good for us all anyways! Lots of fruits, veggies, legumes, nuts/seeds and meats/seafood/tuna! Make sure everything you get is "Certified Gluten Free" with the little gluten-free circle emblem thingy on the packaging. Some foods say gluten free but they can still contain small amounts of gluten or are made in a facility which also produces wheat products, therefore there is risk for cross-contamination. For my son, he seems to be so sensitive that he cannot have any amount of gluten. I have to make sure all of his foods are made in a "dedicated gluten free facility." Your son may not be that sensitive, though, so you probably don't have to be that strict. Just start out with certified gluten free items. I can give you some sample menus/brands of foods my son eats if you'd like!

[Mango1983 in reply to naturegirl276]

Henry also had a very mild subtle tremor. Barely noticeable but I could see. I.e. If he was spoon feeding himself his hand would tremor slightly. And again seemed worse when he was unwell or had just woken up.

The frustration is the not knowing. Henry had been fine and crawling and cruising. But didn't progress to walking. He had a bad tonsillitis Around age 1, and I've thought it could have been that.

He too is progressing, just a slow steady pace. But in the right direction. He starts primary school in September.

Yes please if you could send me that would be great. My email is [e-mail]

X

[naturegirl276 in reply to Mango1983]

Yep- my son's hand tremor (and kind of an all-over-body shakiness) was always worse when had just woken up. It would get better once he was up for a little bit and had eaten something.

I know the feeling of not knowing. It's the worst feeling in the world. I was a wreck for about 6 months after it all happened. And researching the internet just makes it all more scary!! But I'm glad I did, and found out about what gluten can do to people. Food definitely isn't made the way it used to be!

I'll email you this weekend.

[Mango1983 in reply to naturegirl276]

Thank you. Yes it's been 3 years of testing and not knowing this year. I'm terrible for googling and worry myself, but I'd rather be educated, informed and prepared for a diagnosis

[daddusgirl08]

My daughter is 9 and she was having seizures that started late into her 6 year mark...it was not taken seriously by her Dr and was treated as epilepsy for over a year and never a sleep study done until I had to throw a fit and demand something be done to further investigate her problems... At 8 they said it was SCA and then the geneticists have been showing nothing other than a mutation but don't know why or have much else to say... My mom and dad have temporary custody of her and when she was 3 they let the mother take her to a park and she fell 10 feet on her head and had 14 staples put in...BUT NOBODY ORDERED A CAT SCAN OR MRI OR ANYTHING OUTSIDE OF STAPLES AND A HEAD WRAP THEN RELEASED... MY PARENTS HID THE SEIZURES FROM ME FOR A GOOD WHILE UNTIL FINALLY TELLING ME AFTER 6-8 MONTHS OF THEM KNOWINGLY DECIEVING ME. THEN WHEN I FOUND OUT I PUSHED FOR SPECIALISTS AND THEY GOT A REGUAL CHILDRENS DR AND THERE WAS NOTHING BUT MEDICINE GIVEN TO TREAT SEIZURES AND SOME HOW THEY MISSED SEEING HER CEREBELLUM WAS THE SIZE OF A 3 YEAR OLDS AND THEN SENT HOME... SHE VIT WORSE AND THEY DID NOT GIVE HER MEDS AS SCHEDULED AND SHE WOUND UP IN ICU ON RESPIRATOR...I TOLD THE DR ABOUT THE MED NEGLECT AND THE GRANDPARENTS LIED AND THEN MOVED HER FROM THE EXCELLENT HOSPITAL AN HOUR AWAY TO A LESSER FACILITY 3 HOURS AWAY SO I COULDN'T EASILY GET THERE AT TE DROP OF A DIME AND THEY WOULDN'T EVEN GIVE ME ANY INFO...I CAUGHT MY DAD THROWING HER IN COLD SHOWERS TO DISCIPLINE HER AND I TOLD THE SOCIAL WORKERS BUT THEY DID NOTHING BUT WRITE IT IN THE FILES THAT I STATED THIS BUT THAT WAS IT....THE GRANDPARENTS HAVE TOLD ME THAT HEAD TRAUMA CANNOT CAUSE THIS AND I DON'T KNOW WHY THEY ARE LYING AS IT IS CLEARLY STATED THAT IT CERTAINLY CAN...I FEEL THAT SHE WAS NEGLECTED AND THEY COVERED THE ACCIDENT FROM THE DRS...NO SHE IS IN ICU AGAIN AND ONLY WAS TAKEN TO THE HOSPITAL AFTER I NOTICED SHE HAD A CLOT ON HER EYE...THEY TOOK HER THE NEXT DAY AND DIDN'T TELL ME TILL THREE DAYS LATER BC MY GRANDMOTHER DIED AND THEY KNEW ID FIND OUT BC FAMILY WAS IN TOWN... TODAY MY ONLY CHILD IS NOT DOING WELL AND MAY ACTUALLY LOSE TO THIS... I AM BEING LIED TO AND THEY ARE ALL PAYING NO ATTENTION BC IF THE CARETAKERS DON'T REALLY CARE TO CAMP OUT ON THEIR OFFICE STEPS THEY WOULD RATHER WORK WITH A PATIENT THAT HAS A RECOGNIZABLE ISSUE AND LESS HOMEWORK ON THE DR....WHY IS THIS HAPPENING?

[bobby1956]

if she is a epileptic i dont know what meds shes on but if shes on dilantan get here off of it. it causes cerebellar ataxia

[Mango1983]

update:

Henry had a balance test by audiology (even though his ears are fine) at great ormond Street. Not sure where u live but if u can get a referral. They were so thorough and did the rotatory chair test. If confirmed nystagmus (jerky eyes) which is a new finding, of a central cause.

My GP if referring us to GOSH for a second opinion with neurology. He is currently under st thomas who are good but say his amystery. So I'm helping a different neurologist may help.

[Tonixxx]

Hey, my daughter has not been diagnosed, she is now 6 and was diagnosed with Ataxia when she was one. At 6mnths I knew she has problems as she is my 3rd child and was not able to sit upright without support. I have had genetic test with still no diagnosis other than Cerebellum Atrophy. Global developmental delay and Nystygamus (eye condition) very mild are my daughters other conditions, at the age of 4 she able to walk again very unstable with a rollator and the a kaye Walker. It was very distressing but she has a great bubbly personality. I joined this group, I guess to have an insight of what life might be like as she gets older as the doctors advice was too take each day as it comes! Does your child ho to a specialist school or state school?