Mayo Clinic Connect
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?
Hello @godisnumber1, welcome to Connect. I am sorry to hear about your grandson’s diagnosis of cerebral atrophy.
I would like to invite @pec2884, @howardjames, @dmkmom04, to join this conversation as they have experience with this disease and may be able to help provide you with some insight on what it is and what to expect. Cerebral Atrophy is very rare, but we do have a few members who have discussed it. While we wait for these members to share their experiences, you can read a bit more about Multiple System Atrophy (MSA – includes cerebral) from Mayo Clinic http://mayocl.in/1KHdbMf.
@godisnumber1, has the medication for the seizures helped get them under control? What other concerns do you have that you would like to learn from other members?
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This is howardjames wife, Noreen. Where was your grandson diagnosed and how old is he. I have only two others who have been diagnosed with this. My husband is now walking with a walker and is having speech problems. He was diagnosed at Mayo Clinic and the doctor there was spot on with diagnosis and life expectancy. I have not heard of a child having it as it is so rare. Noreen(wife of howardjames).
Liked by Colleen Young, Connect Director
@godisnumber1 Hi. I have MSA and I am 74. I have never had a seizure and I don’t think it is symptom in MSA. I agree with Noreen. I have not heard of someone as young as your grandson having MSA. Maybe he should go for a second opinion or further investigations
Best wishes. Liz/pec2884
My son is 5 years old and has been diagnosed with cerebellar atrophy, large panel testing is being done, I am told not to look on the Internet about it, yet I am eager to know more.
Welcome to Connect, Lisa.
While information seeking on the Internet can be overwhelming, many find that knowledge is power. It is important to know your informational needs. I did a little bit of research for you and found this general article about cerebellar degeneration to be a good starting point. Please note that is not specific to infantile cerebellar atrophy https://rarediseases.info.nih.gov/diseases/6019/cerebellar-degeneration.
Lisa, what specialists is your son seeing? What or who is your main source of information about his condition?
Mayo clinic Dr Bodensteiner
Great to hear that you are in the care of Dr. Bodensteiner at Mayo Clinic. I see that you also ask elsewhere on Connect “Should I be worried?” I’m not a health care professional, so I speak to you as a mom. Whenever our children are diagnosed with something, we worry. But I admire that you are putting your worry into action. You mentioned that you want to gather information about your son’s condition to help you prepare for what is to come. Good for you! As you do your research, you will find out that you are dealing with a very rare condition and that there is little information available. This is not an easy road that you have been forced to travel down, but you know you have to do it. And you will for your son.
I’d like to introduce you to other parents who have search hard and found help for their children who have rare conditions and special needs. Their children may not have exactly what your son has, but they know first-hand what it is like to get a diagnosis and have to advocate for their child. Please meet @fernandavidigal @jennsprung @ihatediabetes @mrsjoanie @barsta and @lcamino. I hope that they will share their experiences about getting a diagnosis, how the searched for information to help them and the times when it was too much and strategies for coping.
Lisa, can you tell us a bit more about what you know and what are your next steps with your son? What have you been told?
I know he has been diagnosed hypotonia, cyclic vomiting and inflammed small intestines, the hypotonia was diagnosed when he was 18 months old. He was just recently diagnosed with cerebellar atrophy found in an MRI taken august 1st last year when i was told by another neurologist there was nothing wrong with him and that he waa just slow. I then had a second opinon at the mayo clinic. Diagnosing cerebellar atrophy. I was told his cerebellum is normal for a 65 year old but not a 5 year old (an example) . He has had stomach ultrasound, stomach X-ray, and so far with the small panel Genomic testing and blood work, everything’s looking good. Now waiting on the large panel Genomic testing to come back which could take 6 months. So far no final prognosis, except the cerebellar atrophy.
Liked by claire1983
Hi, my son was diagnosed with Williams Syndrome at age three at Mayo Clinic. We started in pediatric neurology and made our rounds through clinic. We ended up at medical genetics and got Williams Syndrome diagnosis. Then we had pediatric cardiologist because Williams Syndrome comes with supravalvular aortic stenosis. I learned the buzz words. I could scared dentists by writing “SBE prophylactic” on dental registration sheet. Dentist would look nervous and say, “Where did you hear that?” Yup, I went down that road with my son. He’s 25 now and doing well.
Liked by Colleen Young, Connect Director, lisapraska
Cerebellar atrophy in a 5 year old whst to expect?
@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?
He starts school this fall, he currently os in the campbell county development center.
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!
Liked by Colleen Young, Connect Director, lisapraska, claire1983
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.
Liked by Colleen Young, Connect Director, Teresa, Volunteer Mentor, lisapraska, claire1983
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.
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