Inherited ALS

[NMPR]

My paternal Grandmother died from ALS when she was about 59. Her son was also diagnosed with ALS in his seventies but died from a stroke. My dad died at 83 with some form of dementia. My brother died last year from ALS at 60. As far as I know there has not been any genetic testing because of the cost. I am 58 and has been having muscle cramping,fatigue and burning and stiffness in my arms and legs. I have an upcoming appointment with a neurologist in almost 2 months. I am scared to death and I can't eat or sleep. It seemed to come on fairly quickly. My brother died 15m after diagnoses. Even without genetic testing I would say there is a good chance it is heritary. Is the familial type worse and faster. I always hear of people living 6-8years. After witnessing what my brother went through I am terrified. I have three children as well.

 

[Nikki J]

I am sorry to hear this. Given the family history yes this is FALS and the odds are very high if you have European blood it is c9 orf72. I say c9 because it is the most common form of FALS and the age of onset can often be older than some other forms of FALS though it can manifest as young as 35. Dementia is a fairly common presentation with or without ALS.

Your odds as a first degree relative of having your family's genetic defect are 50/50 so you may be fine.

C9 can progress at various rates. I know people who have died within a year others who have lived 16 plus years. My family ranges 2-16 plus.

There is a gene blocking therapy trial set to start in 6 months or so. There is much research being done on c9 and there is hope for those starting symptoms now and I am very confident there will be answers for the next generation

 

[Lkaibel]

Just stopping by to say anyone even having to think about FALS has all my sympathy and respect for living life with that thought in tow.

I spoke with a man with FALS at our last clinic. He is 69, 5 kids only one of whom has tested positive for the gene and he has had ALS for 12 years and is just now in a wheelchair. Lots of ways something like that can come out.

Best wishes to you for your symptoms being much of nothing.

 

[SandyJay]

I am sorry to hear this.My mother is suffering from ALS and had 2 brothers down last year with it.1 died July and the other in November. My mom was diagnosed right before the 1st one died.she has a 1st cousin who had it too. I am taking care of mom now and had to quit my job and school.I am 1 semester away from.graduation but it has to wait.I do worry about getting it.I hate seeing my mom decline.she is still eating but is very weak and her voice is getting hoarse.I choose not to get tested. I don't want to know.I will just see what God has planned for me. Good luck to you and I pray you do not have it.

 

[Nikki J]

Hi Sandy. Very sorry about your family. Choosing not to be tested is certainly the right choice for many. I do encourage you to get your mom tested if the family genetic defect is not yet known. Treatments ( cures?) for the major genetic defects for FALS are being developed ( actually in trials for sod1 now). There is talk of treating asymptomatic carriers in the future so you would need to know what the family genetic defect is to take advantage of this. It is likely that treating before symptoms would work best I think.

Of course there is a 50 per cent chance you are fine

 

[NMPR]

I am waiting for my appointment with a neurologist in Fort Wayne on September 19th. I have learned quite a bit from this site but I do have a couple questions. Is there pain involved in the "dying" of muscles? I have pain in my hands and back and sometimes in my abdomen. I also have burning and feelings like bug bites. I admit I am very nervous and anxious about the possibility of having ALS especially after watching my brother die not that long ago. I do not have weakness only fatigue if I try to do much. I also have no muscle loss as far as I can tell. I realize that some of these symptoms started at least 6 months ago. Losing at least 3 family members to this disease is enough. Just looking for some reassurance.

 

[Nikki J]

Pain in ALS is usually secondary - from immobility ,unsupported joints etc. it is a motor disease not a sensory one so feelings don't enter into it at the beginning. No weakness is outstanding news.
You have every reason to hope for good news. Please let us know what happens.

Wishing you the best

 

[NMPR]

I have my first appointment with a neurologist next week. I am a mixture of dread and hope. I have read as much about ALS as I can. I know that pain is not usually common with this disease but it is hard to ignore the burning and pulling I feel over most of my body. My whole face will tighten up making jaw feel tight and stiff. My neck also feels stiff as well. I have a headache most of the time.I also feel little spasms all over. I do not have weakness only fatigue at this time. I know my fear can heighten symptoms. I do not sleep well and that isn't good either. This has been going on for 3 months and there has to be something wrong. Because of my family history it makes ALS so real. I know there are many families who have lost several members like me. My brother had incredible courage in the way he faced such a horrible disease. He has a rock solid faith in God. If anyone could help me I would welcome your imput.

 

[Nikki J]

I am sorry. I know how scared you are. You are not deacribing the typical presentation and since you don't know your genetic status you are just as likely to be gene negative as positive.

I hope your appointment is helpful and the neurologist kind and understanding. Let us know

 

[NMPR]

I had my appt with a neurologist today. He said he has no reason to think I have ALS after exam. Because of my family history he wants to do a EMG. I will also have a sleep study. I can't say I feel total relief but I am glad I will have the muscle test soon. Thanks for your patience and imput. I don't think there is much worse than the fear of ALS.