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Brain mutation without a definitive diagnosis: Any thoughts?

Posted by lossofsleep123 @lossofsleep123, Mar 14, 2022

For a lack of a definitive diagnosis, my wife was diagnosed with Dementia & Parkinson. However there was no evidence of these diseases on the brain MRI - she just has all the symptoms of such. Her older brother, again with no definitive diagnosis, was diagnosed with FFI - fatal familial insomnia, though Dr's noted that his signs where not an exact match for that either. My wife & her brother both show the same signs to the tee. My wife's dad along with some of his siblings also went through this. There is no doubt this is being passed down through the family but Dr's can't seem to figure it out. All were in their 60's. My wife also took part in a new saliva test that would without a doubt check her with over 200 known brain mutations and everything came back negative. Frustrated and just wondering if any families had encountered this. Please don't reply with sincerities, just information.
Thanks
John

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Moderator
Colleen Young, Connect Director | @colleenyoung | Mar 16, 2022

Hi @lossofsleep123, welcome. I added your post to the Parkinson's Disease group (https://connect.mayoclinic.org/group/parkinsons-disease/) and to the Caregivers: Dementia group (https://connect.mayoclinic.org/group/caregivers-dementia/) as well as the Brain & Nervous System to bring more potential participants to this discussion.

I know that you are looking for a diagnosis. That's above my paygrade. Have you consulted with a large medical facility leading in neurology? What symptoms is your wife (and you) dealing with at the moment? What is the most challenging?

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1 reply
lossofsleep123 | @lossofsleep123 | Mar 17, 2022
In reply to @colleenyoung "Hi @lossofsleep123, welcome. I added your post to the Parkinson's Disease group (https://connect.mayoclinic.org/group/parkinsons-disease/) and to the..." + (show)
@colleenyoung

Hi @lossofsleep123, welcome. I added your post to the Parkinson's Disease group (https://connect.mayoclinic.org/group/parkinsons-disease/) and to the Caregivers: Dementia group (https://connect.mayoclinic.org/group/caregivers-dementia/) as well as the Brain & Nervous System to bring more potential participants to this discussion.

I know that you are looking for a diagnosis. That's above my paygrade. Have you consulted with a large medical facility leading in neurology? What symptoms is your wife (and you) dealing with at the moment? What is the most challenging?

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Just dealing with the usual signs/effects of Dementia and Parkinson's. Both mental and physical are deteriorating. Yes we have been seen by a facility of neurology (UNMC).. They even went as far as sending a blood test to the Cleveland Center for Neurology where my wife's brother's brain was donated and studied. Even though they both have the same traits, the blood test came back as "no similarities". The most challenging is not knowing the definitive diagnosis. I've got children and grandchildren. Need to get this figured out.

Thanks for your post.

john L.

REPLY
mpeters | @mpeters | Mar 18, 2022

The company that tested for a gene mutation to cause familial brain problems probably has an online support system. There you can meet other people with the same mutation and learn how they cope.

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