Thank you so much, Laurie.
I will try to summarize the events objectively. But it is still a long story
In May 2023 my sis started to have problems with her speech, saw a neurologist who referred her to the neurological section of the local hospital. They made all the tests necessary to exclude all the other possibilities. Apart from speech, at that time the only abnormal finding was in EMG: florid denervation on 3 levels and chronic neurogenic changes on 2 levels. I was there with her with my sis and BIL and I asked them if they could exclude ALS. They said unfortunately not. That was in September 2023. She was prescribed Riluzole but didn’t tolerate it.
Since in the follow up-appointment my sis told them her speech had gotten better, they made the diagnosis “temporary bulbar palsy” but noted that the EMG findings did not fit in the picture. But it was my sis’ wishful thinking anyway. Speech deteriorated really fast. Next examintion in April 2024 they found chronic neurogenic changes on 3 levels, dysarthrophy and dysphagia, fibrillations and arthrophy of the tongue, fatigue and weakness oft he left hand, and secured ALS, phenotypical: progressive bulbar palsy.
My sis and BIL also got a second opinion by one of the big ALS centers in Germany. At the 2nd visit there in February 2024 the doctor diagnosed „ALS with the phenotypical variant of a progressive pseudobulbar palsy new phenotype A5-B6“ (no idea what that means). The doctor wrote in his letter that at the time being he assumed PLS or upper motoneuron predominant ALS because the 2nd motoneuron was not involved. He also prescribed DMC which my sis didn’t tolerate. At the next appointment in June 2024 nothing much had changed except the doctor found a beginning foot elevation palsy and prescribed a foot orthosis which she never got. She told me once he also prescribed an electric wheelchair but they did not need such a thing.
Of course they have done the right thing, getting a 2nd opinion, even a 3rd, of course. But then my sis and BIL started seeing more neurologists and even more neurosurgeons (I have stopped counting) because they were and still are pursuing the idea that a stenosis of the neuroforamen causes all the symptoms and if this gets fixed, she will be all healthy again.
It is true she has this stenosis, but the examinations (including 2 swallow tests and many x-rays, MRTs and CT) all came to the conclusion that the myelon is not affected, it has nothing to do with her symptoms and there is no indication for surgery. But she insists she wants surgery. And she holds on to it and keeps repeating it like clockwork. My BIL when he speaks to me says he can see that it is ALS, but in her presence denies it. They also have people around them who deny it, too, like, 2 alternative practitioners, one of which claimed he would completely heal her if she drank his potions and did his treatments. The healing was supposed to be achieved „by November“ last year, which obviously never happened, but no one wonders.
So far diagnoses and developments. The current status:
In July 2024 they went for 2 weeks to a hospital with my niece and my sis, because she was so exited and worried about her daughter and never used a walking aid, tripped and fell and broke her leg – again. And in hindsight I must say – she has been breaking her legs for years but it was always „the dogs ran into her“ and she has kept dropping things for quite a while but we thought it was the strong sleep medication she was on. Anyway, before July she was still able to drive her car – afterwards never drove again. Using her hands has become more and more difficult.
By now, she cannot do her hair, use a zip, pull up her trousers if they are not really really lose, cannot turn in bed herself according to my BIL and lately has had problems to get out of bed at all. She fell a couple of times just getting up from a chair. Her speech has been unintellegible for a while now. She uses her phone to speak what she types with one finger, still trying so hard to speak and repeat and repeat until the other person says „I am so sorry, love, but I cannot understand you, please type it“. A couple of weeks ago we were still able to do a bit of workout in the basement – now she says she is too weak to even sit on the bike. She is really unsteady on her feet.
A huge problem is her weight loss (since July last year 20 lbs) and inability to chew/swallow food and drink liquids. She also has Hashimoto’s and had lost half of her long blonde hair and they both told me it’s because of the stenosis of the neuroforamen but it turned out it was caused by her thyroid. I really had to push them both to have this checked by a doctor. Now the hair is growing again. Small success.
I also reduced my working time from full time to 4 days so I can go there and stay over once a week and still have Sundays for our mum (89 ys. old, breast cancer fort he 2nd time, mastectomy coming up in March) and my partner (COPD and thrombosis) and our little doggie. My sis and BIL both say it does them good and takes a lot of weight off, so, no problem. But I am struggling. I was watching my sis choking from her food and spilling liquids all over the table and herself, which I thought was humiliating. Also my BIL was complaining every single day to her that he put so much effort in cooking for her when she did not eat (but she just could not). I know because we speak on the phone every night and often at dinner time. So I told them to puree the food and use a dysphagia cup and thickener, because I had learned that from the forum. And my BIL said „yes, I will do that“, but nothing happened for a couple of weeks because my sis said „but I don’t want my food pureed, but I don’t want a dysphagia cup“.
Then I brought a mixer and made them try and since then they always puree the food every day. Also ordered a (very chic) dysphagia cup which she is using now and thickener. Still, I am really really scared that important steps will be missed because they stopped seeing the neurologists and ALS center. It may all sound unemotional to you from my side, but on the contrary, I love my sister very much and I want her to have what is good for her but of course, also what she wants. And if she made a conscious decision on „no vent, no feeding tube, no tracheotomy“, I would accept it. But this is not a conscious decision.
I also wonder what will happen when one day she wakes up and cannot walk and there is no wheelchair. No lift (bedroom, bathroom are 1st floor). No hospital bed. No nothing!! I also have to mention that insurance would pay for all of it – suppose this is still different in Germany. Also, she has „level of care 4“ out of 5, so, everything would be covered, even nurses, but they both refuse to think about it. There also is no living will – although BIL is a lawyer, but he refuses that because he is afraid to make a wrong decision. My sis cries a lot and soon as she has another disappointment because doctors „do not want to help her“ she says she doesn’t want to live any more. I just don’t know what to do. Trying to cheer her up, read to her, let her cry when she is, my baby sister … and make her try certain things like the cup, cut her hair and so on. I cannot order a wheelchair, though, and that would be overstepping boundaries which I do not want to do. It’s a delicate matter anyway.
. I too have a baby sister, and that bond is so precious. Maybe regarding the devices she needs but refuses (especially the wheelchair) you can act as if it’s “for the time being”, “until the doctors can address the issue (that she believes it is)”. Let her know you’re on her side about getting her concerns addressed (even tho you know in reality they won’t be), but that the chair will make her life & her husbands life easier until then and also safer until then too). Denial is an alternate reality for the person living it, finding a way to reach and help them in that reality may be the best you can do. She’s lucky to have you. 
Well, and I thought that next time he asks me, I am just going to tell him I am sorry but I can't do it.
