OregonRNDad
New member
- Joined
- Nov 7, 2022
- Messages
- 4
- Reason
- Loved one DX
- Diagnosis
- 00/0000
- Country
- US
- State
- OR
- City
- Albany
My question is to those familial ALS members both diagnosed and undiagnosed on how you keep an eye out for symptoms, but keep anxiety in check?
My mother was diagnosed in March 2015 and thankfully has been progressing slowly. Her mother lived for 13 years from diagnosis. Other family members in our line (particularly the men) have had a much more typical length of life from diagnosis (2-5 years). In 2016 the local ALS clinic assisted my mother in testing for known gene markers (an expensive and appreciated gift at the time). She was tested for SOD1, FIG4, OPTN, VCP, UBQLN2, FUS, TARDBP, ANG, and C9orf72 which were all unfortunately negative. We have just recently found Invitae and I have paid to have a more comprehensive genetic panel performed on my mother. At the time of writing this post we are still awaiting results and pray we get a positive result so that other family members have something to test for, if they wish.
This disease is nothing new to our family. I think we have been able to decently keep anxiety in check. Not attributing every muscle cramp or spasm to the disease. But there is a natural fear that one of us may lose that flip of a coin, 50/50 chance of getting the disease. So here it is. This year I have been having pretty consistent cramps, spasms, and fasciculations. They are all over and have not seemed to correspond to any clinical weakness, so I have ignored them. I have noted that normal activities like mowing and trimming the lawn results in horrible hand and leg cramps all night. If I work overtime or walk a lot during a day out with the family, I get very fatigued and develop a limp. Most of this I have noted, but not given a lot of credit to because there has not been a marked progression. This brings us to a month ago. My wife and I decided that we would get away for a combined birthday gift to each other. I worked a bunch of overtime to get the funds together and along came the associated fatigue and even limp, but I have not recovered. Getting up from a seated position is very difficult, I limp constantly, have noted mild difficulty "pinching" between my right thumb and anything (turning the ignition key, opening a soda, or holding a plate with my thumb over the edge) and noted when messing around that I could not skip because of weakness in my right foot/ankle. That caught me off guard and I started self-testing. I cannot walk on my tiptoes or heels because of my right leg. I cannot lay in bed and lift my right leg straight up more than an inch or two off the bed before it just falls back to the bed. I have noted I can climb stairs, but with difficulty and feel wiped out and even more difficult is walking up a slope. My right toes catch, and it is very difficult.
I don't want to go running for testing due to my anxiety, but I also would want to know if I have developed ALS. How do you determine at what point you begin checking things out vs seeing if symptoms resolve? The more anxious I am about these findings, of course the more sensitive I am to every little period of fatigue, spasm, cough, choke, cramp, etc. I would appreciate knowing how you and your families have dealt with this.
My current plan is to wait for the genetic testing of my mother to come back. If she is positive for anything, I too will be tested. If she is positive and I am negative, great I will be much more tolerant of the need to see my doctor. If we are both positive then I will see my doctor right away. If she comes back negative, I am still in the same boat. I guess I would go ahead and be seen, but I still haven't decided. When this horrible disease is a big part of your family history you develop a certain level of acceptance, but the not knowing seems to be an additional torture.
Anyway, thank you all for listening to me and offering up any advice or experiences you might have.
My mother was diagnosed in March 2015 and thankfully has been progressing slowly. Her mother lived for 13 years from diagnosis. Other family members in our line (particularly the men) have had a much more typical length of life from diagnosis (2-5 years). In 2016 the local ALS clinic assisted my mother in testing for known gene markers (an expensive and appreciated gift at the time). She was tested for SOD1, FIG4, OPTN, VCP, UBQLN2, FUS, TARDBP, ANG, and C9orf72 which were all unfortunately negative. We have just recently found Invitae and I have paid to have a more comprehensive genetic panel performed on my mother. At the time of writing this post we are still awaiting results and pray we get a positive result so that other family members have something to test for, if they wish.
This disease is nothing new to our family. I think we have been able to decently keep anxiety in check. Not attributing every muscle cramp or spasm to the disease. But there is a natural fear that one of us may lose that flip of a coin, 50/50 chance of getting the disease. So here it is. This year I have been having pretty consistent cramps, spasms, and fasciculations. They are all over and have not seemed to correspond to any clinical weakness, so I have ignored them. I have noted that normal activities like mowing and trimming the lawn results in horrible hand and leg cramps all night. If I work overtime or walk a lot during a day out with the family, I get very fatigued and develop a limp. Most of this I have noted, but not given a lot of credit to because there has not been a marked progression. This brings us to a month ago. My wife and I decided that we would get away for a combined birthday gift to each other. I worked a bunch of overtime to get the funds together and along came the associated fatigue and even limp, but I have not recovered. Getting up from a seated position is very difficult, I limp constantly, have noted mild difficulty "pinching" between my right thumb and anything (turning the ignition key, opening a soda, or holding a plate with my thumb over the edge) and noted when messing around that I could not skip because of weakness in my right foot/ankle. That caught me off guard and I started self-testing. I cannot walk on my tiptoes or heels because of my right leg. I cannot lay in bed and lift my right leg straight up more than an inch or two off the bed before it just falls back to the bed. I have noted I can climb stairs, but with difficulty and feel wiped out and even more difficult is walking up a slope. My right toes catch, and it is very difficult.
I don't want to go running for testing due to my anxiety, but I also would want to know if I have developed ALS. How do you determine at what point you begin checking things out vs seeing if symptoms resolve? The more anxious I am about these findings, of course the more sensitive I am to every little period of fatigue, spasm, cough, choke, cramp, etc. I would appreciate knowing how you and your families have dealt with this.
My current plan is to wait for the genetic testing of my mother to come back. If she is positive for anything, I too will be tested. If she is positive and I am negative, great I will be much more tolerant of the need to see my doctor. If we are both positive then I will see my doctor right away. If she comes back negative, I am still in the same boat. I guess I would go ahead and be seen, but I still haven't decided. When this horrible disease is a big part of your family history you develop a certain level of acceptance, but the not knowing seems to be an additional torture.
Anyway, thank you all for listening to me and offering up any advice or experiences you might have.