My son's shrinking cerebellum

[Laura5124]

My son has been tested for many of gentic diseases but still no answer as to what is going on with my son.  He is five years old and has delayments and balancing problems.  The MRI's are showing shrinking to the cerebellum but the doctors don't know why.  His doctor don't know what else to test him for and set a appointment with a gentic dr..  I really need to know what will happen to my son if his cerebellum keeps shrinking and it has done in the last 3 MRI's.  I just need to know what gentic disease he might have or what will happen to him.  He is the most sweetest child you will ever meet and I just want the best with him.  Do I need to get a second opinion and if so where is the best place to go.  Right now he is seeing a doctor at Children's hospital in New Orleans Louisiana.

[Tigress609]

My daughter reached her milestones.  At 4 she started to stutter, have absence seizures  & was clumsy but a tomboy, so we thought. Dr said I was an over protective mother.  Children's hospital of  Pittsburgh treated her seizures but several medications failed.  She got worse day by day even not being able to set upright, slobbering, slurring words....a nap seemed to help but soon that went away.  The whole time dr tested for different diseases & MRI.  All normal. Traveled to Johns Hopkins and Cleveland Clinic.  No one could find out what was wrong.  At 5 she was forgetting her best friend's name.  Did MRI- cerebellar atrophy, so now insurance would pay to do whole exome testing. She has a de novo mutation on I believe gene 19 and its CACNA1A there are subunits and she has symptoms of a few of them but she's been Having migraines from this but we never knew.  She just couldn't watch movies at a theater, go to jungle gym parks, the mall....basically anywhere, even eating lunch in school was awful.  Might not be the same disease but I think it has been a disease that doctors always thought was inherited & it's not.

[Tigress609]

Sorry about all those mistakes, I can not find how to edit them.

[RJonesC]

Hi! Our son is 23 and was diagnosed with SCA2 when he was 14! His symptoms as you all have noted, began when he was 7. It took us 7 years to find out he had SCA2! A geneticist called and said a doctor from Paris France was in Dallas doing research. After 7 years of waiting, we were told with 15 minutes our son had SCA2. This was after nerve tests, muscle biopsy’s and many more tests.  Blood work, received many weeks later confirmed the physicians thoughts. There wasn’t a doctor, test or specialist around that could figure out why our son’s cerebellum showed to be Shrinking! Now he has hiccups all day, he’s in a wheelchair, he chokes constantly and he’s dependent on us to bath him and take him to the restroom. Each year it gets worse.

[msd390]

I have a 20 months old son ,he is having the same problem.Doctor did one MRI at his 3rd month and told that his cerebellum is small,and one more MRI  at 18th month and told his cerebellum is shrinking and degenerating.Our Doctor said its not cured and its deadly.my son still cannot hold his head properly and sit.he is having PT 2 times a week. Is that my son will get better by PT and OT or its really deadly?. I would like to know is there any thing we can do for my son.

[Hayley1000]

I know what disease you're all inquiring about. The actual name is Spinocerebellar Degeneration or it could also be called Spinocerebellar Ataxia. It involves the shrinking of the cerebellum. It affects movement of the body, talking, eating, vision, and everyday chores. Unfortunately there's no cure for it at the moment. But there are remedies for easing the symtoms. Rehabilation is the best solution right now for your kids. There might be a chance to delay the process if the child does rehaibilate.

[kidstolove4]

I have a 2 1/2 yr old daughter that is having the same problems. I am from Shreveport,LA and LSU (after a yr) still hadn't done anything. We are now going to New Orleans. They just did another MRI and said that her cerebellum has shrunk a lot. We were never told that at LSU here. Just there was a gray area. We have just meant with a gentic dr. He just did a salivia tests. He neurologist also did some blood work to try & find out what is going on. As a baby she meant all her mile stone early. Was walking by 9 months. Then when she turned 1 everything changed. She started falling all the time (even when she was sitting she would fall over). I keep a helmet on her during the day. She also has grand mual seizures. She was talking but now says only a few words. She does PT, OT & speech. They work with her but they have even notcied that she isn't progressing any actually going backwards. But she is very smart. You can ask her something & she knows what you are talking about. (giving you crayon color) They say she is very machancial. I Pray you get some answers as do I. It is so hard seeing my kid go threw this.

[dpa13]

hi
im a mum of 3.5 year twins :boy n girl.boy is completely normal but my baby girl has cerebellar atrophy ie delayed milestones. She still cant walk independently can speak only a few words. we r doing physiotherapy & speech therapy for her and she is showing good improvement.her intelligence and comprehension are very high.We live in Mumbai n i would like to share experiences with other troubled parents too.

[josh11072]

Sounds like your child has similar issues as my son. He has been delayed since birth and still has problems even sitting at 2 1/2 years old. He can not talk and has had eating issues. Our latest and only finding was a shrinking cerebellum that showed up on recent MRI. We will go anywhere if there is a doctor out there that can help our son.

[Dr Vinod]

These are all symptoms due to cerebellar atrophy if he was normal with his milestones after his birth. If he always had delayed milestones and loss of or no fine movements etc shows he has cerebellar problems. Follow up near a Paediatric neurologist and find out the causes and seek the line of treatment. Take care!

[cheche197805]

Hi there my son is 4 and his mri says that the white matter in his brain is thin and that the part that attaches the cerebellum is thin also... He is very unsteady on his feet to the point where I have a helmet on him most of the day... He is also delayed in his movements ( his body all tense and falls all of the time) as well as his speech. We still don't know what is wrong with him and I know your frustration...