azmully
Member
- Joined
- Jun 29, 2020
- Messages
- 12
- Reason
- Lost a loved one
- Diagnosis
- 11/2019
- Country
- US
- State
- AZ
- City
- Phoenix
Hello and thank you in advance for your time.
I'm very new to this site and this is my first post.
Recently my 2 Uncles aged 57 (limb onset) and 63 (bulbar upper motor neurons) ( on my fathers side) were diagnosed with fALS approximately 1.5 years apart. The Barrow Neurological center identified the C9 gene. Our family is of Northern European descent and we have a big Irish heritage family.
The only other relative that we know of was my father's Uncle Leo who died in 1987 from ALS. My Dad's father died young from a blood clot mid 40s ( leaving 11 kids yikes) ,however, it's now clear he too like his brother Leo carried this gene.
3 questions and I hope this is okay.
1. I would be interested in c9 studies that I could share with my Aunts and Uncles, 7 of which are over 50+ years old, 3 have died of other causes, and 2 have been diagnosed with fALS (mentioned above).
2. My father is 73 and in very good health , but I would like to know more penetrance, I've read about the median age and realize it's still possible until 80+. Is this correct? I'm also trying to determine my own risk as well. I spoke to a genetic counselor and with a Bayesian approach it was in the 8%-10% range based on my Dads age, does this sound correct? I have a bother and sister so we were curious.
3. Do I have any reason to worry based on the genetics and my concerns? I'm 49 years, 5'11 and 178 lbs.
a. last 6 months I've woken every morning with rigidly tight legs, as I take a few steps ( bent knees a bit gingerly) it feels like a "wave or contraction in my legs...then I'm good, perhaps it's the muscles trying to wake" and then it subsides after a few steps but lingering soreness remains. This is new but consistent every AM.
b. The last 2 months legs started to feel tight during day ( liked they been worked) especially in left calf. I assume this was from sleep tightness.
c. Some fasciculation's all over body legs, biceps, chest area. I was told this was perhaps due to new Thyroid RX that I was taking.
d. Today I tried to stand on heels and walk and my left foot is not cooperating the (toes) are barely raised with max effort and leaning my body back to cheat. My right foot is bit better but not great, this is the first time I've tried so I'm not calibrated.
e. My walking gait seems a bit off in left leg. I don't feel a foot slap and have not tripped or lost a shoe as of yet.
f. I can stand on tip toes but feel the tightness in calves.
Thank you and sorry for asking several questions on different topics.
Kind regards,
Mike
I'm very new to this site and this is my first post.
Recently my 2 Uncles aged 57 (limb onset) and 63 (bulbar upper motor neurons) ( on my fathers side) were diagnosed with fALS approximately 1.5 years apart. The Barrow Neurological center identified the C9 gene. Our family is of Northern European descent and we have a big Irish heritage family.
The only other relative that we know of was my father's Uncle Leo who died in 1987 from ALS. My Dad's father died young from a blood clot mid 40s ( leaving 11 kids yikes) ,however, it's now clear he too like his brother Leo carried this gene.
3 questions and I hope this is okay.
1. I would be interested in c9 studies that I could share with my Aunts and Uncles, 7 of which are over 50+ years old, 3 have died of other causes, and 2 have been diagnosed with fALS (mentioned above).
2. My father is 73 and in very good health , but I would like to know more penetrance, I've read about the median age and realize it's still possible until 80+. Is this correct? I'm also trying to determine my own risk as well. I spoke to a genetic counselor and with a Bayesian approach it was in the 8%-10% range based on my Dads age, does this sound correct? I have a bother and sister so we were curious.
3. Do I have any reason to worry based on the genetics and my concerns? I'm 49 years, 5'11 and 178 lbs.
a. last 6 months I've woken every morning with rigidly tight legs, as I take a few steps ( bent knees a bit gingerly) it feels like a "wave or contraction in my legs...then I'm good, perhaps it's the muscles trying to wake" and then it subsides after a few steps but lingering soreness remains. This is new but consistent every AM.
b. The last 2 months legs started to feel tight during day ( liked they been worked) especially in left calf. I assume this was from sleep tightness.
c. Some fasciculation's all over body legs, biceps, chest area. I was told this was perhaps due to new Thyroid RX that I was taking.
d. Today I tried to stand on heels and walk and my left foot is not cooperating the (toes) are barely raised with max effort and leaning my body back to cheat. My right foot is bit better but not great, this is the first time I've tried so I'm not calibrated.
e. My walking gait seems a bit off in left leg. I don't feel a foot slap and have not tripped or lost a shoe as of yet.
f. I can stand on tip toes but feel the tightness in calves.
Thank you and sorry for asking several questions on different topics.
Kind regards,
Mike