SpeedyMarie
Active member
- Joined
- May 24, 2019
- Messages
- 38
- Reason
- PALS
- Diagnosis
- 08/2019
- Country
- US
- State
- TX
- City
- Houston
Hello,
I’m a 45 yo woman, C9orf72 positive, my Father passed with FTD/MND, his brother my Uncle passed shortly after diagnosis of ALS.
I have watched the UPENN FTD Facebook site, their research helped me understand my Dad’s illness. At the time no one knew their was a familial link. When my uncle was diagnosed in 2015 my heart sunk a little. Last fall I saw a post about the clinical studies they are doing. With my family history they accepted me and my sister to the studies.
Oddly last winter the muscle cramps I’ve had worsened. I didn’t thing hard on them. Went through the study. Got invited back next year. This past May the stiffness in my feet started and muscle weakness in my left hand. Then a gait change. I went to my PCP found with motor neuron deficits on my left side. MRI head/neck shows frontal atrophy. Ugh got my advanced directives. It’s been a whirlwind since I finally got into see the neurology consult last week. Exam showed Upper MND, and ataxia. This week had a genetic consult and another set of tests. Back to the neuro EMG’s and nerve conduction tests face, upper left arm and leg. EMG’s okay other than my left hand shows weakness and my left tricep muscle weakness they both look atrophied to me. So the doctor said they are waiting for genetics for diagnosis ?
My eldest daughter is getting married next month and my next set of appointments are the first week of October. So trying to wrap my head around it all. Guess you’ve got to enjoy each day.
I’m a 45 yo woman, C9orf72 positive, my Father passed with FTD/MND, his brother my Uncle passed shortly after diagnosis of ALS.
I have watched the UPENN FTD Facebook site, their research helped me understand my Dad’s illness. At the time no one knew their was a familial link. When my uncle was diagnosed in 2015 my heart sunk a little. Last fall I saw a post about the clinical studies they are doing. With my family history they accepted me and my sister to the studies.
Oddly last winter the muscle cramps I’ve had worsened. I didn’t thing hard on them. Went through the study. Got invited back next year. This past May the stiffness in my feet started and muscle weakness in my left hand. Then a gait change. I went to my PCP found with motor neuron deficits on my left side. MRI head/neck shows frontal atrophy. Ugh got my advanced directives. It’s been a whirlwind since I finally got into see the neurology consult last week. Exam showed Upper MND, and ataxia. This week had a genetic consult and another set of tests. Back to the neuro EMG’s and nerve conduction tests face, upper left arm and leg. EMG’s okay other than my left hand shows weakness and my left tricep muscle weakness they both look atrophied to me. So the doctor said they are waiting for genetics for diagnosis ?
My eldest daughter is getting married next month and my next set of appointments are the first week of October. So trying to wrap my head around it all. Guess you’ve got to enjoy each day.