Looking for some advice on possible ALS for my dad?

[jasonsamara]

I have not posted lately, but thought I would give an update. He did go to Johns Hopkins in January and they couldn't find anything to sway them away from ALS. The Dr. there told him that they thought it would turn out to be ALS, but would not give him a diagnosis. They thought he had muscle loss in his shoulders and my mom thinks his shirts are big on him now. He may be going off of his cholesterol medicine and they told him to drink 3 milkshakes a day if that's what it takes to not lose weight. His mood is depressed of course, but he still really shows no signs other than his right hand and the fact that he sleeps a lot. I try to give him encouragement and that he has no official diagnosis yet. We go back to Morgantown this month and there he will get the results of the most in depth EMG that he has had out of a total of 3 so far. The mood of our family is a little tense right now of course. Mom always wants to tell us she thinks he is going down hill, but he doesn't really want to talk about it and acts like nothing is going on.

I just don't understand and I know there are no answers. My dad worked for a plant in the 70's and 80's and climbed smoke stacks to take samples for testing from time to time. Other than that I know he had real severe acne as a kid and was on some heavy medication for that, but he doesn't remember what it would have been. Then you start thinking about is this something that my sister or I or our kids will have to deal with in the future. I can easily see how a person can go nuts. Thanks again for your time. I will update after our appointment towards the end of the month.

 

[lgelb]

Hi, Jason, thanks for checking in, but I'm confused. What diagnoses does Hopkins think are still on the table apart from ALS? Did they do their own EMG? That's a place from which I would have expected your dad to walk out with a definitive diagnosis.

That said, I don't think there's any reason to worry about its being hereditary, nor to try to pinpoint any cause. Research suggests that just as with cancer, it's a complex series of events.

 

[jasonsamara]

Dad said the EMG at Hopkins and the one locally was 1 needled poked around on him. The one in Morgantown was various needles and dad seemed to think much more in depth. The Dr. at Hopkins told him she was 99% sure, but wouldn't give him a diagnosis yet.

 

[jasonsamara]

On one of dads Mris they found a spot in his lower spine and he had a second MRI yesterday and his brain looks normal and they did a dye on that spot but still can't figure out what it is and how could something in your Lowe spine affect your arm anyway?

On a side note he says his muscles twitch a good bit and he feels like he is being shocked sometimes. Would this be a sign of als, stress or the fact that he has had 3 emgs done lately? Thanks

 

[jasonsamara]

I'm going to the doctor with my dad Monday. I know a doctor doesn't want to sit there and answer novice questions and I want to make the most of our time there. This will be with an als doctor in Morgantown wv. What questions should I ask? The only real questions I can think of is could he try ivig to make sure it's not mmn?

 

[jasonsamara]

So I actually did get some news today. Dad called me to tell me his DNA test came back and that he doesn't carry the gene for the ALS that is hereditary. I still hold out hope that he has something else, but ready to deal with it either way. I still would like for some of you experienced people to help me with a few questions to ask?

 

[Nikki J]

Have you reviewed the stickies on second opinion and getting a diagnosis?

I would ask what is still in the differential? Are there any tests that need to be done still? If there is not a firm diagnosis what is the missing piece? How do we figure it out? ( and do be aware that sometimes what is needed is time- wait and see)

if this is the place he is going to get care find out who to contact for what need and how emsil? Phone? Collect business cards.

I would not push too hard for ivig. It is not a benign drug. If there is serious question that this is MMN that is one thing but if he has no conduction delay and negative antibodies and upper motor neuron findings those are all reasons it isn't MMN.

Btw there is not one gene test for FALS. If you have no family history they may have tested for c9 as that can be found in apparent SALS. If you do have family history ( which I don't think you have mentioned) there is a panel of genes they can test which only identify about 60 percent of FALS so a negative panel does not rule out FALS IF the family history is there

 

[jasonsamara]

Done with the doctor today and feeling a little frustrated. Dr Smith will not give him an als diagnosis only probable als. He only shows Lowe motor neuron signs and not upper at this time. She says there is no need for a spinal tap and really says it's just a waiting game. I will post more technical info when I get the copy from today. She did say she ruled out mmn. She doesn't recommend any drugs and will look into clinical trials.

On a positive note his strength is much better with the therapy he's doing and that is strengthening his muscles that still work. She says he ha plateaued for now.

 

[GregK]

So I actually did get some news today. Dad called me to tell me his DNA test came back and that he doesn't carry the gene for the ALS that is hereditary...

Be aware that there is not 'a gene' associated with familial als, but roughly a score of them.