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Jennanne

Active member
Joined
Oct 25, 2016
Messages
39
Reason
CALS
Diagnosis
12/2016
Country
US
State
New York
City
Buffalo
My PALS, bulbar onset, diagnosed last December has been steadily declining both physically and cognitively. Back in April we enrolled in the LEFFTDS study at the Mayo Clinic because there was a possibility that he had familial ALS due to C9 gene mutation. As part of the study he did have a brain MRI which the neurologist did go over with us at the end of the study. He said it did not show FTD, also his genetic testing was negative.

My PALS was in a leadership position, very intelligent, and was also a speaker for a medical device company. Although his hands are weak, he can still type on his iPad. He sometimes can answer questions, but many times he answers "yes", when he means "no" and vise versa. He is also mostly unable to put together complete sentences. I can usually understand what he is trying to say because I recognize the pattern that he is using (usually he mixes up the order of words in a sentence).

Are there cognitive changes that occur without FTD or might this be the beginning of FTD? His personality is still there sometimes, but it just seems buried deep somewhere, he is so easily frustrated now and can be inpatient which are 2 traits that he never displayed.

I feel terrible because I am getting frustrated and angry with him because of the cognitive changes, which I know he cannot help. We have older kids and 2 younger girls. He seems to take out the most frustration on either me or our youngest daughter. The other day we were going out, and she was trying to clean a path for him (he uses a rollator) and he kept pushing along and growling at her to move the sneakers in his way.

My heart was just breaking. She is my sensitive, empathetic one and takes everything to heart and although she seemed to take it in stride I am so worried about how this horrible, relentless disease is affecting our younger girls. I have spoken a few times with our ALS coordinator, and she has given me counseling resources but none have any specialization is ALS. There are also no support groups in our area for kids/teens who have parents with ALS.

On a bright note, we do have an amazing support network of family and friends and the older kids have been a tremendous help and distraction for the girls.

Any advice would be helpful, I am having a tough time.

Jenn
 
Sorry to hear this. Some cognitive issues develop in about 1/2 of PALS but the FTD/ dementia incidence is considerably lower

FTD generally presents with executive function problems and issues like apathy and lack of empathy I can tell you there are exceptions. My mother started with memory issues.

Are your kids in 1-1 counseling? We have found it helpful

I wish I had good answers. Reducing frustration for him if possible may help a tad. Is he possibly depressed? That might be exacerbating things for both mood and cognitive difficulties

Neuropsych testing might bring some clarity but it is tiring and frustrating even if you don't have cognitive issues. They might have a shorter version they could do.

I am sorry that you do not have an identifiable family genetic defect. As I recall, he does have family history? Being FALS is horrible. Being FALS with an unknown genetic cause is worse for the survivors I think. Consider banking a sample at Northwestern or elsewhere in the hope that they will someday find the cause for your family and develop treatment/ cure for it
 
I am no expert but your husband's symptoms remind me a lot of my PALS, who was diagnosed with FTD: the confusion between yes and no, the problems with grammar and forming sentences, the loss of empathy, becoming impatient and easily frustrated...

Like you, I found it frustrating but once I knew that this was something beyond his control I learned to become more tolerant and to accept that this was part of the disease, not part of who he was. It was a great challenge for me to respond in a loving way in spite of his negativity, but I think it made me a better person. Of course there were times when I became angry, we are only human. And yes, it is very difficult, but please know that others have gone through the same thing so you are not alone. Hugs!
 
Thank you so much for the quick responses! Regarding the counseling, they are not yet in 1:1, their pediatrician's office is in the process of adding counselors to their practice, I just wish they had experience specifically with ALS, but I will be starting them soon.

I have wondered lately about depression too, it is so difficult to tell because one of his first symptoms was emotional lability which he has been on Nudexta for since diagnosis. We have our next MD appt. next week and it is definitely on the list. As for the FALS, yes he does have relatives (cousins on his Dad's side) with the C9 gene, and only tested for the C9 gene. I guess it could be a different one, we haven't pursued further testing at this point.

Manhattanite, I am so sorry for the recent loss of your PALS and it does bring great comfort to know that others have been in the same situation and have actually come out a better person. I know that personally there have been things that I thought I was totally incapable of doing or taking care of, only to find out that I actually am not too bad at them. I have definitely gained both inner and physical strength!

Jenn
 
His cousins are documented c9 and he is negative? Two thoughts. Some people with c9 have another ALS genetic defect too so it is conceivable that he did not get c9 but got the other familial defect is there is one. There are a few people who do not show their c9 on standard testing. As well as the c9 repeat they are missing a bit of code in front of it and that makes the c9 not show up. I believe it would show on a Southern Blot. or maybe this is a very nasty coincidence. Have you discussed with a neurogeneticist?
 
My wonderful husband had the same problem. He couldn't spell and couldn't answer yes or not but he was very sweet until the end. I got frustrated not knowing how to help him. Now I am so sad when I look in retrospective what I could have done better. He had the c9 mutation. When first he was tested was negative but was tested again and it was positive.
Maybe he needs to be tested again.
 
It is interesting, his dad was an only child, so they are actually 2nd/3rd cousins Also, my PALS is the youngest of 5 kids and none have ALS. We did meet with a geneticist at Mayo, not sure if she was a neurogeneticist. Normally, she would disclose the results, but since we were back in Buffalo our MD gave us the results.

So, no follow up after. I had no idea you could have a false negative. I'm not sure what test was used, but it was part of the LEFFTDS study so would it be the most definitive one?
 
It may say in your study consent which type of test he had. I looked it up and could not tell but it seemed as if the testing was a screening as to eligibility soI would not be surprised if it were the standard test which I believe is quicker and is cheaper. You can certainly ask which he had. I know that there are false negatives and even some false positives

The more distant the cousins the more possible this is coincidence which would be good news for your family certainly. I know you have so much on your plate but getting as much clarity on this as possible would be good for your kids in the future. Maybe you can ask the Mayo geneticist? I have also found Nailah Siddique at Northwestern very willing to answer questions from FALS families
 
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