Husband Newly Diagnosed

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Daviskim

New member
Joined
Jul 1, 2024
Messages
2
Reason
CALS
Diagnosis
06/2024
Country
US
State
GA
City
Savannah
My husband was diagnosed with ALS on June 13. His symptoms started in September 2023 with stumbling and dragging his right leg. He had an EMG and nerve conduction test in January 2024. Neurologist told us no signs of ALS. Based on that diagnosis we went on a quest seeing several different doctors. He had surgery for nerve compression at c3&4 in April. When there was no improvement the neurosurgeon tried to get a referral to a specialist in Macon, GA. While waiting on that referral he continued to decline and I took him to a local hospital The staff neurologist ordered a new EMG and by the next morning we had a diagnosis. ALS does run in his family. His maternal grandmother and his great grandmother both passed from ALS. There were 8 siblings in his mothers family. His mother's oldest sister and youngest brother also passed from ALS. One of her brothers was diagnosed and passed away from Alzheimer's. Her youngest sister had dementia and passed away from it. No one has indicated that either of these are related to ALS. His cousin passed away with it at a young age and one of her brothers is living with it. They are both children of his aunt that passed away. His mother is now 86 years old with no symptoms. We thought we had dodged a bullet since his mother is fine and we had a false diagnosis in January. He'll soon be 66 years old. He's now bed ridden. His arms and hands are virtually useless and his legs aren't much better. Is now under hospice care as it seems to be quite agressive.
 
I am sorry to hear this. If no one in the family has had genetic testing it would be a gift to family if he did. Prevention for carriers is coming. There is a trial right now for sod1 carriers.

Age and the dementia diagnoses make me think c9 orf72. The association is frontal temporal dementia but misdiagnosis is common even in the recent past.

If he would consent to testing there are a couple of free options and it is only a tube of blood or a cheek swab

I am glad you have hospice but very sorry it has been so aggressive
 
Thank you for your reply Nikki. How would we go about getting the free genetic testing you mentioned?
 
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