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My 16yr grandson was dianose with this last June causeing him to have seizures and takeing medication for his seizures. Do anyone know about this disease?
Interested in more discussions like this? Go to the Stroke & Cerebrovascular Diseases group.
@lisapraska, it must be so challenging to wait for the genomic testing to come back. Can you tell us a bit more about your son? Does he go to school? Are you able to work with his teachers to meet his special needs?
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Hi @lisapraska – I’m sorry to hear that you haven’t been able to connect with anyone with a similar diagnosis. I felt quite lost at the beginning of our journey. My son has a rare genetic anomaly. He is 11 now, but we received our genetic results at around the same age your son is. Waiting for all of the testing to come back was tough- we knew there was something wrong but we really didn’t know where to start. I didn’t know what they would find so I couldn’t really search for information. And I was really risking looking in spots that wouldn’t be helpful (or even hopeful!) because I didn’t have the full picture without those test results. Then the results came in and I was torn between “Hooray we have an answer” and “What does this MEAN?” This was accompanied by a rather overpowering need to connect with someone that had the exact same anomaly. I kept thinking that if I found someone the same, surely I would understand better. There was also a second round of testing done at that time to check to see if either myself or my husband may have passed on the wonky genes, so there was another 3 months of worry and guilt. I think the guilt hit me hard because I really hadn’t thought of inheritance before the genetic screening. I had certainly worried that I may have done something “wrong” when I was pregnant, but I hadn’t considered unknowingly passing on an altered gene or two.
Unfortunately, I cannot speak to cerebellar atrophy- but I can and do understand a need to connect with others facing similar medical issues and special needs parenting. We were unable to connect with anyone that has the exact same issues as my son (he’s the only one with his genetics) but I have found other parents with a similar constellation of symptoms. That has been life changing for us! The focus has shifted from finding all of the answers to helping my son and family live our best possible life, in a comfortable way, every single day. It has taken a while to get here, but all in all the journey has been more than worth it.
Feel free to chat any time- I’m never far away!
Cerebellar atrophy in a 5 year old whst to expect?
My daughter is almost 7 years old but a brain MRI at age 4 discovered diffuse cerebellar atrophy. How many MRIs have you had done? Follow up MRIs are able to tell if the atrophy is going to be controlled or progressive. What are your child’s symptoms? My daughter has difficulty with balance, coordination, fine & gross motor skills, sensory integration.
He has hypotonia (floppy baby syndrome), vision, hearing, fine motor gross motor problems and developmentally delayed, recently he has been having outbursts of anger, then like a light switch changes back to happy, he is recently diagnosed with cerebellar atrophy, cyclic vomiting, and Developmental delays with no known etiology. He has frequent migraines. Neurologist said as long as he is making gains and doesn’t plateau or decline he should be fine. We will get another MRI next year, do for now nothing to compare to. Waiting on small panel Genomic testing for fragile X syndrome and angelman syndrome, if that comes back normal they will run a large panel Genomic test. He also is not potty trained, and is severly sensitive to textures and foods, very poor eating habits. I.e. chocolate everything.
Welcome to Connect, @nikkikry. I’m so glad that you found us here and have connected with Lisa.
You’ll notice that I moved your messages to this existing discussion about cerebellar atrophy in children in the Cerebrovascular Diseases group: http://mayocl.in/2nI5fV2
Nikki, we look forward to getting to know a bit more about you and your daughter. Can you tell us a bit about getting the diagnosis?
Hi im new to this group. I am from England. My daughter was diagnosed with cerebellar astrophy 3 years ago. She is now 5. This condition is so overwhelmingly difficult to understand. Im still finding myself searching for information.
Hello, @samantha1986 and welcome to Mayo Clinic Connect. You have posted to the right place.
Here you will meet other people who are seeking information on the same topic. Please meet @lisapraska, @godisnumber1, @nikkikry and @ihatediabetes. By reading some of their posts, you will learn this is a safe place for you to voice ideas, opinions and concerns. These posts on our community pages are also meant to be used as reference tools and a place to seek support from others who are living experiences similar to yours.
@samantha1986, do you have any questions you would like to ask the others? or what information are you seeking that maybe one of our members could possibly answer?
Can you tell us what you find most difficult to understand?
Hi. I’m finding the worst part is thinking I’m going to lose my child before me. As much as I can gather cerebellar atrophy is tissues and cells dying until there’s nothing left. I haven’t spoken yet to one person who has explained the condition to me and what it means for the future.
Hi I’m claire from England. My son is 4.5 and just been diagnosed with cerebellar atrophy. He had a brain scan age 2 normal and one in March this year and told normal, on a second opinion they say shows atrophy!!
He was fine when born and met all his milestones until 1, he had some viral illnesses and his development plateaud. He wasn’t walking at 1.5 so we took him to doctors. They run lots of tests all normal. He eventually took his first steps just before 3. He now walks with a walker and in his isnbut very wobbly, off balance and falls.
His symptoms are: hypotonia, hypermobility, Ataxia wide base gait clumsy falls, brisk reflexes, mild speech delay & global development delay. He had two small holes in his heart which have now closed
He developed strabismus (eyes turn in) and most recently after a balance test nystagmus of a central vestibular cause.
We still do not know the underlying cause for all if this nor his prognosis. Although he is making slow progress.
It’s been 3 years of testing. His lumbar puncture, chromosomes & Ataxia Gene panel all normal. He is now enrolled in the 100k genome clinical trial and may also be tested for mitochondrial disorders.
He does not have any abnormal ‘features’. He occasionally gets a very subtle tremor. He failed Romberg and finger to nose tests
There are just no answers as yet. Which is worrying and frustrating.
I hope you get some answers too. Xx
My name is Lisa, my son too has been diagnosed with cerebellar atrophy, he is 5 and has all the same delays, he was just diagnosed earlier this year. He is having geonomics testing done at the Mayo Clinic in Minnesota, USA my son is not using a walker or anything like that and I am still waiting on answers too, I am also wondering if you were on any anti_seizure meds during your pregnancy, that might be a link to part of the cause, otherwise I have no idea how this has happened to our children and so few are diagnosed. So sorry for what you are going through, is there anything I need to expect to prepare for?
Also, I was told my sons brain is normal for a 65 year old but not a 5 year old.
Hi Lisa. No I wasn’t taking any medication. He was fine when he was born.
When did your son’s symptoms start? When did he walk?
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.X
He was over 18 months before he could sit up, didn’t start walking until around 2, he has the unsteady gait, nastigmus, needs glasses, has low muscle tone, speech delay, sensitivity to textures, developmental delays and is still not potty trained. He is 5 but testing says he is mentally around 21/2 to 3 years old. Waiting until spring or summer next year for a second MRI to compare with the first MRI. He starts kindergarten on the 22nd of this month. He is still unable to recognize letters and numbers and cannot write any letters.
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