Cerebellum Atrophy

Hello @marysue720

I see this is your first post on Mayo Connect and I would like to welcome you to Connect and especially to this discussion on Cerebellum Brain Atrophy.

I commend you on your persistence in seeking answers for these varied symptoms. It sounds as if you have been to many doctors and seeking help. I so appreciate it when patients become their own advocates and ignore medical advice which is not helpful, like "you don't know how to walk." That is so important to keep searching for the correct diagnosis.

I see that you are going to Mayo Clinic next. I feel that you will experience a different medical experience there. They treat the whole person, even though there are many specialists they all communicate with each other.

I look forward to hearing from you again and would appreciate your checking in after your Mayo appointment. I would be interested in knowing how you feel about the care you receive at Mayo.

Teresa

Were you able to find more information on this condition? I see there are some YouTube videos that talk about it. The one I just saw indicated that a person could have this for many years, but not know it (not have a diagnosis). They call it "Cerebellar Atrophy" though. I've been told for 10 years now that I have brain atrophy, but that it was not related to my symptoms including sudden falls and I have not been told what area of the brain. I guess because of me being in my 40's (but the sudden falls started in my 30's), the doctors in my area just brushed it off as old age. However, when I recently had speech problems, they realized that I have excessive build up of fluid which a neurosurgeon told me is normal for brain atrophy. The problem they claim now is that it is shrinking faster than normal. He is sending me to the Mayo Clinic in MN for a diagnosis. He said that I definitely have some sort of neurological disorder, but that the doctors in my area just don't understand it to give me a reasonable diagnosis. I've been told nonsense like "you don't know how to walk" or depression at a university medical facility near me. Apparently I shouldn't expect too much no matter where I go. Been disappointed so many times. I've already been to the Cleveland Clinic and they just focused on the body jerks (involuntary movements) which a doctor said were myoclonic seizures even though the EEG indicated no seizure activity. I wish the "healthcare" system would look at patients as a whole so as to give them clues as to what is going on instead of focusing on only one symptom at a time. The body works as a whole; not one body part at a time. This "specialization" system isn't working! At least they should talk to each other and have more respect for each other! Their arrogance and ignorance are harming patients and are a big reason why people can't pay their medical bills! Too much wasted time and money goes on because doctors don't want to admit they don't know something. 🙁

Hi @howardjames My husband is going through this now, being diagnosed with cerebellum atrophy. He is going to USF Morsani college of Medicine in Tampa Florida to have research done. What I can tell you is that his father and grandfather both had degeneration of the cerebellum. Both his father and grandfather passed away in their mid 50's. Both became bedridden and could not walk or talk by the end, both had passed within 3 to 4 years of being diagnosed. This is a hereditary disease with in his family. I have notice in my husband signs and symptoms that he might possibly have his father and grandfather hereditary disease for the last 8 years. He neglected to see doctors for many years when I insisted he see one cause he was becoming forgetful and clumsy. My husband is now 41.... He was found to have atrophy of the cerebellum January 2018 after being involved in an auto accident that he has no recollection of. He was seen at Blake Medical Trauma Center by a Neurologist that had ordered CT scan and MRI done of the brain to find what caused the accident. That is when he discovered Cerebellar ataxia spinosis/Cerebellum Atrophy/Cerebellar Degeneration. My suggestion is that you find a Neurologist that specializes in Cerebellum atrophy. From what I found in my searches for help is that not many Neurologist specialize in this field. I would look for Research centers or Medical Universities of Neurologist that are studying atrophy of the brain. Right now we are waiting to see a Neurologist that specializes in this field. We were fortunate the Neurologist that saw my husband at the Trauma hospital knew a Neurologist that studies this particular area of the brain.

I began having coordination issues and excruciating pain in my head (right hemisphere) and my muscles felt like they were being torn from the bone. I was also having some significant cognitive issues and as you suspected, put through the proverbial ringer of specialists at UT Southwestern in Dallas, Texas. I went from wearing 5” Stilettos to work to using a wheelchair within 6 months. My doctors in Dallas quickly realized I needed more help then what they could offer. A brain MRI indicated two hemangiomas and some lesions in the area of the head pain, EMG & NCV tests indicated some factors that led them to appeal to Mayo Clinic in Rochester, Minnesota to evaluate me for some type of Neuromuscular disease. They also had found that my bladder muscle had atrophied, which led them to suspect MS. But there were also tremors and rigidity and a family history of ALS. Mayo took my case and discovered the cerebellum degeneration nearly immediately but other than never seeing it someone so young, they didn’t know the cause nor the way to slow down the degeneration. Spinal taps indicated it may have had a mitochondrial disease at its root and they proceeded with a very painful muscle biopsy to help them narrow the field. Unfortunately, all it indicated was that my muscles were atrophying naturally and again no way to determine why. Autonomic Nervous System testing indicated there was indeed a problem, and they also discovered small fiber neuropathy may be the source of the extremity pain. I was also suffering from seizures of several different kinds. My heart muscle had also shown signs of prolapse acquired during this time. Immune system issues, including nine cases of Shingles (which attacks nerves), was just another system that seemed impacted by this unknown neurogenerative problem. My gastrointestinal system was also atrophying, indicating that my esophagus and vocal cords could cause some more severe problems. Although I was having some swallowing difficulties, fortunately I still have my speech. My case was and still is a mystery. I have had 24-hour care for the last nine years and after four years of diagnostics, doctors have been resigning to pure symptom management as they are unable to help me in any other way. The NIH paid to study me and still have not gotten any closer to a possible outcome or outlook other than pain management, assisted living and psychiatric care to deal with the catastrophic life issues that are part of living without knowing. No one can convince me Mayo wasn’t the right place to go; I stayed with them for all these years as other institutions literally are years behind this. I have had devastating losses, injuries and daily struggles but greatful that I am still here. I transferred to the Scottsdale Clinic three years after leaving Rochester as my diagnosing Neurologist has never stopped researching and trying to evolve as I do. Although this is broad, I am happy to help the other families to understand a little more of what they are going through and if they have any questions or thoughts they care to share.

Welcome back to Connect, @menville. Things have been updated since you were here last. I hope you like the new look and feel.
I'm so glad you returned to offer your first hand experience with cerebellar atrophy or degeneration. I'm sure that @pec2884 @howardjames and @lisapraska would very much appreciate connecting with you.

I'd like to hear more about how you were diagnosed. Was it a long journey before you got the correct diagnosis? I can imagine that cerebellar degeneration wasn't the first thing that was suspected given that you were only 30 at the time.

I am still living with this disease and would be happy to help answer any questions you have. I wasn’t given much time (diagnosed at 30 years old) and can shed some light on my experience and those of my caregivers and treatment facilities.

I am still living with the disease and it’s wide-ranging impacts on other organs/systems within the body. Mayo Clinic sent me to the NIH Rare Disease program and I am happy to help anyone struggling with the understanding of what to expect from the unexpected way this will impact both patients and those that care for them.

@lisapraska Right, Lisa. That is a major difficulty with going to Mayo. Their finance system is crap, in every way possible.

We are hoping to get another MRI by the end of the year, so far people that have this do not have any abnormal brain MRI's. I was pretty disgusted with the Mayo last time, I tried to get my son in to see the neurologist there, because I had an outstanding balance they refused to set an appointment with the neurologist, since when is money so much more important than any human beings health, not just my son. At our hospital here in town we owe them triple of what we owe the Mayo Clinic, and they do not refuse us service.

@lisapraska

Thank you for updating us on Wesley's diagnosis. While this is a very rare disorder, I do see a Facebook Page which is dedicated to those who have received this diagnosis, https://www.facebook.com/Pog-z-White-Sutton-Syndrome-1185996388101616/. Perhaps you can find some more support there as well.

As I recall, your son has been involved with occupational and speech therapy. Are doctors offering you any other suggestions for coping and addressing his developmental problems?

I would also like to introduce you to our Caregivers' Discussion group.
@IndianaScott is the volunteer mentor for that group and there is a wonderful group of people who support and encourage each other. Here is a link to those discussions https://connect.mayoclinic.org/group/caregivers/.

Please keep us updated, we want to support you in whatever way we can during this time. Has the MRI been scheduled yet?

Teresa