Cerebral Brain Atrophy: Anyone else out there?

@howardjames my grand daughter is 2 years old and was just recently diagnosed shee is now unable to walk and her speech is becoming impaired. I am looking for any kind of recommendations on questions for the drs tomorrow at her follow up apt i can get

Welcome to Connect, @chiefsfan75
I'd like to introduce you to @lisapraska, whose son was also diagnosed with Cerebral Brain Atrophy and ultimately with White-Sutton syndrome. In addition to this discussion , you may be interested in reading more in these discussions on Connect to help prepare questions for your appointment tomorrow.
- White-Sutton syndrome https://connect.mayoclinic.org/discussion/white-sutton-syndrome/
- Cerebral Brain Atrophy https://connect.mayoclinic.org/discussion/cerebral-brain-atrophy-yet/

Chiefsfan, will you be accompanying your granddaughter to the appointment as a second set of ears for her parents?

Hi. My friend’s son, Kevin - age 42, is going through this now. He’s been to All the nyc hospitals. They now recommend the Mayo Clinic to determine why his cerebellum is shrinking. He’s in dire shape and it’s been hell on everyone that cares about Kevin. I’m not sure if you’re still on here. It’s taken so long to get to this point. He’s been through so many tests and doesn’t want to go to Mayo ...but he’s also not thinking properly. It’s a bad situation. I’m sorry you’re going through this.

Hello @karendam and welcome to Mayo Connect.

I am so sorry to hear about Kevin's difficulties with the shrinkage of his cerebellum. It is understandable that you are all concerned about him. He is fortunate to have so many caring people in his life!

I hope that he is able to allow others to help him with a decision to go to Mayo and get a second opinion.

Just read today that some med that is available deals with cerebellum shrinkage. Mayo should know.

@karendam Mine is not shrinking, but filling up with dead protein Fibrils. I have hereditary Gelsolin Amyloidosis. Look my story with tests, timeline, etc.: https://bit.Ly/1w7j4j8 under Amyloidosis. The safest file is a PDF file, but otf is also there.

@colleenyoung

My granddaughter just recently got out of the hospital again they gave her 5 days of ivig treatment with a steroid iv boost. She goes back October 2 to see if it will help slow down progression and help the ataxia at all

My son just turned 30 and was diagnosed with Cerebral brain atrophy. We see a neurologist tomorrow to explain this. I am terrified and dont know what to expect

My husband has been diagnosed with Cerebral Brain Atrophy. He was diagnosed at Mayo Clinic. He was given 3 to 4 years to live. At that time he was walking with no problems. It effects the balance and speech, and swallowing . He is now in his 4th year. He is wheelchair bound and has more trouble with swallowing. The doctor at Mayo said he would probably die of
Aspiration pneumonia as he has trouble swallowing.
I am so sorry about your son. My husband is 79 and at least this did not happen while he had a job and child in college. We are very grateful for that!
Please keep me informed. We have only found one other person who has this and she is in South Africa. I wrote to Colleen why there weren't more with this diagnosis and she said that it's very rare.
Noreen (wife of Howard James)