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pattysfriend

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I have been lurking on the forum for a week or so, for reasons of finding out the latest thinking on ALS; its possible causes, latest treatments, and research. I have learned a great deal and I thank you all for how candid you have been here on this forum. So I, too, will be candid with you.

My best girlfriend, going back to childhood, comes from a family with familial ALS. I have known her since I was in the first grade. We grew up together in the same town, went to the same school til graduation. We were in each others weddings, had children close to the same ages, got divorces and shared other notable milestones in life. We have always been there for each other, supporting each other in the good times and bad.

I am close to the family and know of quite a few anecdotes regarding the course and manifestations of ALS.

My friend's father died with ALS in 1982 at age 60. At the time the 5 siblings were told that chances were very slim that it was a genetic disorder, even though her dad had a sister who had and later died with Parkinsons. I am not sure if a connection between some types of ALS and Parkinsons was know about then, though, and I am not sure that the family knows about the studies on this even now.

Even though the family was told that this was most likely not genetic, there was a great deal of fear concerning ALS. For 30 years my friend and her sister were both very frightened that they would someday develop ALS.

My friend began to suffer from very deep depression and even went to the Mayo Clinic for evaluation. She told me that they had diagnosed her then with very severe PMS (pre-menstrual syndrome). This was in the late 1980s, and we are both 1955 babies.

I believe it was around 2002 that her sister, 5 years older than we are, woke up one morning with one side of her face fallen in paralysis. She was given a diagnosis of Bell's palsy. But the paralysis never subsided and by late 2004 she was diagnosed with ALS. This sister supposededly did test positive for Lyme disease and also tried another alternative therapy in Mexico. She died at age 55 in 2006.

This was a hard blow to everyone because now it appeared that is could be familial, but yet there was still this question of was it Lyme?

A couple of years ago, I got behind my friend's oldest brother at a convenience store. He didn't see me and I noticed he was shaking severely with tremors, the kind you see in Parkinsons. I related this to one of the cousins in the family and asked her what was going on. She knew nothing about it, nor had observed it, as they were estranged. A few months later I saw him again, and he was not shaking this time. But then the cousin called me over a year after that and said she had observed him shaking also at a family dinner.

Last year, the second brother of the family was having weakness in his hip and leg. He went to Mayo and was diagnosed with ALS. He does not believe they are right about this because, he says, he's had problems with that hip for years. Before his diagnosis, though, he was reliving the death of his 2 year old daughter who had died over 30 years ago. He was constantly reminding his friends and family that they had known this little girl, and talked like it had happened only yesterday. It was a very sad time when that happened and I doubt that I, too, would ever get over something like that, but the way he kept going on about it did not seem quite right, either.

Over the years, my girlfriend has continued to suffer with severe mental suffering and has been on every antidepressant in the book in addition to Seroquel, Buspar, and Lithium. She was diagnosed OCD, I am guessing, atleast 10 years ago. A few years ago she also received a diabetes diagnosis. She went through menopause a full 10 years before I did and stated that hormone replacement made her feel better than anything else. However, the doctors discontinued these for her and refused her anymore of that kind of treatment. She has even tried electroshock therapy, 8 or 9 years ago, in fact, a couple of tries at this. All to no avail.

So over the past 2 years her weight has dropped from 110 to 76 pounds. She has lost hearing in both ears and has hearing aids, but refuses to wear them. She has lost all of her bottom teeth and now the top ones are beginning to break off. Everywhere she went, she carried a 2 liter bottle of Diet Pepsi and all anyone ever sees her eat is candy bars and brownies. She continued with the psychiatric medications, but was not monitoring the diabetes. I observed her a couple of times showing Parkinson type tremors, but they stopped within minutes, and I thought - well, its either her medication or I have made her nervous over something. Now I think I am noticing that she does not use the tips of her fingers when she grasps things, and that she uses both hands to pick up a glass. And she is nothing but skin and bones and a couple of people in town ask me - what is going on with her?

I had debated and debated with myself. Was this only her business, or was it mine, too? I reached out to one member of the family, saying I am really concerned that she is malnourished. Please make sure she gets some help. That was before Christmas. To be fair, they did take her some Boost, but she continued to drop weight.

By late winter/early spring of this year, she was repeating herself, asking the same questions of me 3 times in the course of an evening. I couldn't tell, was she not hearing me or what?

Finally, about 6 weeks ago, I approached a couple of her other friends, and through mutual support one of us worked up the nerve to approach her son about her condition. He had to fly her out of state to his brother - but she is now in the process of being tested for every cancer that can be tested for.

She had pneumonia on top of this and the doctors were very concerned about lung cancer since she does smoke, but so far, no cancer diagnosis! But her cough has not responded to antibiotics. In addition to this, I am being told that her blood sugar was in the 500 range and oral meds have not brought it down.

My God, my God....

Through all the course of my reading up on ALS, (because I am so very afraid that it is here and I am trying to prepare myself for what lies next), I just yesterday came across quite accidentally an article on REM behavior disorder and something to the effect that this can be an indicator decades in advance of a neurodegenerative disorder.

We used to do a lot of sleep overs when we were teens, and I remember as far back as when we were 18 that she was acting out dreams...then one of her sons informed me just tonight that she sleepwalks.

Has anyone else had Rapid Eye Movement Behavior Disorder prior to an ALS diagnosis?

I am sorry that this has been such a long introduction, but I could write much more, and it is for posterity's sake that I am recording these observations here.

I believe that a dementia is setting in. I, and her other friends, are afraid she will get angry with us and cut us off if we do the wrong thing. She's done that before. I cannot share my deepest concerns with her sons because they will be devastated if this does turn out to be ALS and while everyone is thinking about it, no one will say it. Her son did tell me, though, that he put Lou Gehrig's disease down on her history, but as far as I know, all tests are pertaining to ruling out cancer. And many symptoms could be because of the diabetes. Now she is homesick and wants to come home, but no story is ever told the same way twice by her!

Sometimes I wonder if all of this could possibly be something else, since the original diagnosis was made clear back in 1982.

What do I do to help in anyway I can? I do not know how to handle this and want so desperately to help her, without insulting her or wounding her pride.

Thank you for listening to me and for any suggestions you might have.
 

olly

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hi pattysfriend.
i am so sorry to read about your friend and all the tragedy in her family.
firstly,her symptoms dont sound like als but theres definatley something not right going on.
dont know anything about the rem.
there is a type of lung cancer thats hard to detect and can take years to progress,symptoms are present ofton years before the cancer is detected.
can't remember the name ,its some kind of cell cancer i think,will try to find out.
there can be parkinson type symptoms and dementia with als..........its actually a parkinsons plus syndrome,heres some info.
it does sound like her mental health is making her physically ill but that does not mean theres no underlying physicall illness.
its a very difficult situation and i really dont know what to suggest.



Several primary neurodegenerative disorders share parkinsonian features, such as bradykinesia, rigidity, tremor, and gait disturbances. These disorders have complex clinical presentations that reflect degeneration in various neuronal systems. However, because of the common parkinsonian features, the disorders have been collectively named Parkinson-plus syndromes.

Parkinson-plus syndromes respond poorly to the standard treatments for Parkinson disease (PD). An inadequate response to treatment in a patient with parkinsonian symptoms suggests the possibility of a Parkinson-plus syndrome and warrants a search for the signs and symptoms of degeneration in other neuronal systems.

In addition to lack of response to levodopa/carbidopa (Sinemet) or dopamine agonists in the early stages of the disease, other clinical clues suggestive of Parkinson-plus syndromes include the following:

Early onset of dementia


Early onset of postural instability


Early onset of hallucinations or psychosis with low doses of levodopa/carbidopa or dopamine agonists


Ocular signs, such as impaired vertical gaze, blinking on saccade, square-wave jerks, nystagmus, blepharospasm, and apraxia of eyelid opening or closure


Pyramidal tract signs not explained by previous stroke or spinal cord lesions


Autonomic symptoms such as postural hypotension and incontinence early in the course of the disease


Prominent motor apraxia


Alien-limb phenomenon


Marked symmetry of signs in early stages of the disease


Truncal symptoms more prominent than appendicular symptoms


Absence of structural etiology such as a normal-pressure hydrocephalus (NPH)


Modern immunocytochemical techniques and genetic findings suggest that Parkinson-plus syndromes can be broadly grouped into 2 types: synucleinopathies and tauopathies. Clinically, however, 5 separate Parkinson-plus syndromes have been identified, as follows:

Multiple system atrophy


Progressive supranuclear palsy


Parkinsonism-dementia-amyotrophic lateral sclerosis complex


Corticobasal ganglionic degeneration


Diffuse Lewy body disease


See Parkinson Disease for complete information on this disorder.


i really wish a good outcome for your friend,thankyou for being such a good caring friend.
take care.
caroline
 

notme

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Hello

With blood sugars that high--I'm rather surprised she's not on insulin injections. Oral meds aren't usually sufficient with levels that high.

It's more than obvious that something is going on--but with her varied history, it's going to take a lot of testing to sort out what is caused by what. She's obviously malnourished if she weighs 76 pounds.

I'd certainly tell her sons your concerns--regardless of hurting her feelings. It's better to alienate a friend than to go to th.at friends funeral. She needs help.

I believe olly might have been talking about small-cell carcinoma. Paraneoplastic syndrome can cause all sorts of strange neurological symptoms.

I'd be surprised if an EMG/NCV hadn't been done--but if not, they probably should be--with diabetes it's entirely possible she's got neuropathies that would be picked up on the test and many are treatable.

With a father and brother with ALS--it is possible there is a family connection. It should certainly be something her doctors are aware of.

I hope she's able to get some answers and the help she needs.
 

olly

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thats the one notme,could not remember the name.

pattysfriend i just remembered something.
my dads sister is very petite and just skin and bone,many years ago she too was tested for cancer as family and doctors were concerned but they did not find anything .
a couple of things to consider..........is she eating less? depression can cause appetite loss and i know when i get depression i too have no appetite, also is she smoking alot? smoking is an appetite suppresant.
 

kmendsley

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Patty'sfriend. Sorry to hear of your friend's hard life and it sounds like yours as well in trying to watch out for her in a hard time at this point. I don't know why, but what stood out to me in that paragraph was the loss of teeth, weight, depression, and constant eating of candybars. This may be a hard question for you to answer, but could it be possible that your friend has fallen into an illicit drug habit...specifcailly cocaine or meth.? These are symptoms of this and it jumped out to me...esp. since she has to such great lengths to try whatever perscription and therapy..even extreme therapy...to cure depression it may have been in her mindset the last option to help her.

It is not uncommon for stress to affect the body in this way either...and well with this life...doesn't surprise me that she would be malnourished from the anxiety and stress from her life. If docs are testing for all sorts of cancer most likely they have also already done a neuro check on her with her family history and ruled out MND/ALS. If your not sure just ask for the general dr. to do a quick neuro exam and if anything does not come back normal he/she will most likely send out a neuro referral for her to get checked out. (If anything that I saw in your into the only possible neuro thing I saw was not remembering questions/answers talked about...short term memory loss). Good luck to you, and of course to Patty.
 

pattysfriend

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Thank you for the nice replies.

Yes, as one person said, I am almost thinking, hoping, wishing, that this could be more in the Parkinsons range than ALS. Atleast Parkinsons does not seem to lead so quickly to total paralysis. I think that if she did receive that diagnosis, she would almost be relieved and become compliant with treatment.

As for insulin injections, I think that she has been informed of that. I do not know why she had decided to ignore her diabetes, except that she has told me in the past that she doesn't care if she dies of cancer or anything, she just does not want to come down with ALS.

Since she is out of town right now, I am not quite sure why or what they are doing to bring that down. I suppose she has the right to refuse any kind of treatment. One of the sons did tell me that it would be hard to get her to compy with shots, and I had suggested that maybe a nurse from the county health department could monitor her for a while with it.

There is something about her that wants to keep everything secret, even from her sons. Her sister did that and I can understand that she was trying to spare them additional time of worry over her condition. But I think that now that her boys are in their 30s, they have a right to know.

My own mother was secretive about her diagnosies also, and now that she is gone, I have found myself wondering just what exactly the doctors thought was going on...during the years of her own psychiatric medication. So many conditions that used to be thought of as purely psychological are now being shown to have underlying physical causes.

Illicit drugs are absolutely not going on with her. That would be hard for me to say about anyone but her, but seriously she never has been into anything like that, nor any of the crowd of middle age to elderly ladies that she hangs with. I feel that her body could be robbing calcium from her teeth to make up for the malnutrition.

I know they also said that her cholesterol was high, but the doctor at present did not want to chance using any statins with her while she is in this condition.

As for the smoking, strange how that is listed as protective for Parkinsons. Sometimes I think we self medicate instinctively and sometimes come up with the right combination, or something close.
 

notme

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Honestly, hon, if she's not a danger to herself (no mention of wanting to die) there isn't much she can be forced to do. I'm not sure if she's aware of it or not--but believe me, cancer isn't any more pleasant a way to die than ALS is! In some ways, it's much worse--as the pain can be horrible and the morphine doesn't touch it at those levels.

That said--no amount of denial on her part is going to help her. If it IS ALS, it will become apparent no matter what is happening. Those around her with experience will know. Things will stop working -- arms, legs, breathing, speech.

Actually, one thing you said though, isn't quite true. Her kids really do NOT have any right to know of her health issues if she doesn't want them to.

I'm wondering--do you think it's possible that she already knows what is wrong and doesn't want anyone to know? Again--it's harder for those around her--but her right.

High blood sugars will cause rapid weight loss--but other diseases can as well. Cancer being one of them.

Diabetes (I have it) causes a whole host of problems all on its own. It's very possible that any nerve problems she's having are being caused by the diabetes. Peripheral neuropathy is very common in diabetes.

I understanding your feeling helpless. Perhaps when she comes home you can talk her into letting you be her support system if you're willing to take on that role. Maybe she'll let you go to doctor appts with her and help her find the strength to get answers--because it doesn't HAVE to be ALS--until it just can't be anything else.

Some are so depressed with their own health conditions, they can't bear to talk about it with anyone--some just can't get their heads around what it does to those that love them when they see them deteriorate with no apparent reason.

I feel bad for you all.
 

olly

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hi pattysfriend,like notme said cancer(runs in the family,quite a few have died and had it myself)and even parkinsons(my dads brother has this)are still not something you would want instead of als.
honestly,if she did have als i would think it would be obvious to all the doctors she has seen...........you can not hide the effects of als from anyone no matter how much you want to.
has she seen a neurologist?maybe its time someone gently persuades her to,there maybe nothing wrong neurologically and you all can have some peace of mind .
 

pattysfriend

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notme, her son did say to me, night before last, that he wonders, too, if she knows something and has not told us. I realize that her health information is private and protected, but it does make it awfully hard to compile an accurate family health history if it is not shared atleast with your children. But of course, it is her decision. I was going to offer to accompany her to a doctor, before her sons took over. Another one of her friends also offered to do this and she said that she did not want to go to a doctor. She used to doctor all the time, but here lately does not want to. Her boys had to make up a story to get her to go.

As far as not being a danger to others, I think we are all thinking now that it would be better if she not drive. But it would be a pretty big fight to keep her from it if she wants to. Its just that she is getting so physically and mentally weak.

olly, as far as I know, she has not seen a neurologist. Her oldest sister has been fighting breast cancer and even she said that she would rather have cancer than ALS, because it can be treated. My mom died with chemo-induced leukemia, so I know where you are coming from...

I must say that writing this out is really helping me to sort out my thoughts and think in a few different directions.

I hadn't really seriously considered a Parkinson type diagnosis and confess I don't know as much about it as I do ALS. The focus has always been on ALS. But the REM disorder has got me to thinking more on this.

I think I will mention to the boys that the doctor should be told about the sleep disturbance. I'm not sure if they have any clue about the tremors with their oldest uncle and they never knew their grandpa's sister who died with Parkinsons.

So no one knows of an ALS patient who also had REM sleep disorder? Nearly everything I am reading is saying Parkinsons predictor, but I do not see ALS.

Have you seen the new study out on REM sleep disorder? Look in the corner where it says it predicts a neurodegenerative disorder up to 50 years in advance. I believe this, because she was having these kinds of symptoms when we were teens. But they are not saying ALS, per se.

Potential cause of severe sleep disorder discovered, implications for Parkinson's disease

Thanks everybody, this is helping me in a way I hadn't expected.
 

pattysfriend

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kmendsley, I think we were all hoping it was just stress that was causing weight loss, but she has always tolerated a lot of stress and this weight loss is just way beyond the norm. We can still hope it is diabetes related, but how do you tell if it is weight loss or muscle atrophy? Does a neurologist make that decision alone, or can a regular MD tell you that?

I have noticed a certain type of body language with her as I alluded to before. It seems like she uses her hands like they have mittens on them. Her fingers are always together as group when she holds the phone receiver, a glass, or drives. I've even noticed that when she uses a lighter she uses her whole arm to bring her thumb down on the little wheel mechanism that causes the spark, while her remaining four fingers are held together straight out - as if her thumb on its own can't operate the lighter on its own using only the joint of the thumb to move it - hard to explain, but that's about the best I can do to describe it.
 

pattysfriend

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I posted another reply to olly and notme. Its in moderation I guess because I posted a link to the latest study on REM sleep disorder. So hopefully it will be released soon.
 

kmendsley

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pattysfriend, that does sound like something neurological that could very possibly be related to a psychological problem from everything that has happened. I suggest seeing a psychologist as well to rule out any other disorders that may cause physical manifiestations such as the 'mitten hands'. ALS doesn't follow that suit, not sure about other neuro diseasis that might mimick that behavior either. Muscle atrophy is best found by neuro but can be found by dr. but it is a longer process. Usually, as far as I know it is a waiting game. They measure her body as it was, muscles that is, and then few months down the line do it again. Muscle loss and other clinical signs that they check off can lead to a diagnosis of muscle atrophy. Weight loss would be found more in the fatty regions of the body-ie trunk, thighs. Whereas muscle atrophy in more places like wrists, ankles, calves, feet. Again, I am not a dr. but you can ask to check for muscle loss. Good luck to you and her.
 

pattysfriend

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Its been a while since I've posted, but thought I would update this thread. About 2 weeks ago, my friend underwent a lung biopsy which confirmed that she does not have lung cancer. My friend's son told me that the lung specialist/doctor told him at the time that it was an aspiration, but that they did not yet have the results of the culture. Today he was informed that the culture came back as tuberculosis. I had told him previously that I remembered that about 13 years ago, she had tested positive for TB and had to take antibotics for months, I don't remember exactly how long.

The primary doctor who is overseeing her case, after telling her son that her cholestrol was very high, but said he did not want to prescribe a statin while she was in her present condition, went ahead and did prescribe a statin because it was in the package her son picked up at the pharmacy, along with Metformin.

Now the doctor is saying that her mental condition could be delirium caused by the infection (which he did not know was TB when he said this) and way high (now 400) blood sugar.

However, due to her being unable to put on any weight, the doctor is now saying let her eat whatever she wants, he just wants her to have calories, calories, calories, and he will control the diabetes by upping her diabetes meds.

Now she needs to be on a new antibiotic for 3 weeks before she will be allowed to travel, and hopefully she will regain some of her mental functions when the infection is under control. Unbelievably to us, her mental condition had deteriorated to the point that she was unsure if her sister had died (the one that died with ALS). This was a very traumatic event for her that happened 5 years ago. If she is having difficulty recalling this, it tells us how badly her mental functioning has become.

In addition, her son and little grandchild will also have to be tested for TB.

Hard to believe that a lung biopsy had to be performed to find this out. It has taken over 2 months for a single diagnosis, when a simple skin test could have determined this. The doctor, of course, was thinking cancer by her appearance.

So we are hanging on to hope that this will turn her around to the person she used to be. Still no neurological testing scheduled.

The issue of this being an "aspiration" and the infection turning out to be TB has got me a little puzzled.

Her son definitely told me that the doctor said it was an aspiration. Anyone ever hear of an aspiration being infected with TB? I not sure if this is all adding up.
 

notme

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Aspirations are usually caused by a problem in the throat--nerves or muscles--that allow something to get down the trach that should go down the esophagus (in simple terms)

With no slurred speech, though--bulbar ALS doesn't seem likely. Is the TB active or dormant? Active TB shows up on a chest x-ray.

I'd see also about getting her an appt with a neuropsych doc--someone that can evaluate her for dementia's caused by various neurological conditions.

Genetic testing should be done for the family type of ALS if a mom and sister both died from it--if for no other reason than for the sake of her kids.

I'm glad they didn't find lung cancer--but those sugars have to get under control somehow as they will cause nerve damage if left untreated long enough. There are oral meds she can take on top of metformin if she doesn't want to take insulin shots. I was on glucotrol for years with my metformin.

Blood sugar also tends to increase when we're sick and fighting off infections. Mine shoots to the 400 range when I'm sick -- that's how it was originally diagnosed, actually.

Perhaps you can find out what tests have been done. The "mitten holding" could be that she's just compensated for loss of function in her hands by holding things differently. That loss, though, can be neuropathy.

Sounds like a medical mess they are trying to sort through!
 

pattysfriend

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Hi, notme..

Truly, she has been a medical mystery. The TB did show up on x-ray, but they didn't know what it was - an infection or cancer. The primary doctor took one look at the physical shape she was in and immediately suspected cancer. Her son said he raised his eyebrows when he said "it's not cancer".

Its just too bad that they went as far as a lung biopsy and it took 2 months to come up with TB, when it could have been tested for with a simple skin test. Wish I would have remembered that she had mentioned TB years ago before that first doctor's visit. But now all of us know that if we have a cough that isn't clearing with regular antibiotics that we should ask for TB testing.

In the mean time, she has exposed her son and granddaughter to it, so now they will have to be tested, too. One of our friends is going to be tested, too, for peace of mind.

The lung doctor did tell her son that she had worked with hundreds of TB patients and has never caught it. Since my friend first tested positive for TB 13 years ago, it makes us all wonder at what point she became infected with it and for how long she was contagious. The cough developed after last Christmas I know, but exactly when I'm not sure. There was a couple of months there that I didn't see her because she was working 7 days a week as a companion for a woman.

The primary doctor told him last week that he could refer him to a neurologist at any time, but would first like to clear up the infection, because her symptoms could be attributable to delirium, as opposed to dementia, and she might have a turn around.

So no neurological testing on the schedule for now. All this does not address the sleep disorder, but apparently the primary doc didn't seem too concerned with that. Of course, its not his area of expertise, and I'm sure that would be a whole other round of testing for that.

He did say go ahead and allow her anything and everything she wants to eat, except switch her to regular Pepsi instead of the Diet Pepsi (there's that Diet Pepsi connection, again). He just wants her to increase her caloric intake and he will control the blood sugar through meds. Her son had been going through heck trying to make her adhere to the original diet recommended, and here now they've done a 180!

I hope the antibiotics aren't too expensive. From what I see its quite a regimen, but if it works for her that would be great. Not to mention maybe a long treatment with antibiotics would be helpful if there is any undiagnosed Lyme involved.

You're right, its a real medical mess.
 
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