THE ODDS (Debbie Does ALS)


Ned found an interesting article

Australian scientists in Lou Gehrig's disease breakthrough

29/02/2008 08h10

The portraits of (R-L) Mickey Mantle, Joe DiMaggio, Lou Gehrig and Babe Ruth
©AFP/Getty Images/File - Al Bello

SYDNEY (AFP) - Australian scientists Friday said they have discovered a gene abnormality responsible for the crippling condition known as Lou Gehrig's disease, which causes gradual paralysis in sufferers.

Researchers hope the breakthrough will eventually lead to a cure for the illness, also known as amyotrophic lateral sclerosis (ALS), and help pinpoint a more general cause for motor neurone disease.

Scientists at the ANZAC Research Institute based at Sydney's Concord Hospital said their research suggested the TDP-43 protein produced by the gene abnormality is toxic.

The disease is named after Lou Gehrig, a US baseball player from the 1920s and 1930s whose career was cut short by the condition.

Sufferers had been known to have abnormal deposits of TDP protein in dying nerve cells but it was thought the build-up could be caused by damaged cells trying to repair themselves.

But University of Sydney Professor Garth Nicholson said his research, conducted in collaboration with experts at Kings College London, suggested the protein itself was causing the sickness.

"What we've found is that these actual mutations cause the disease in these rare cases," he told AFP.

He said the research, published in the journal Science, was backed up by the findings that TDP abnormalities were found not just in those motor neurone disease sufferers with the rare genetic abnormality but also those without it.

"People with the sporadic (isolated cases of) motor neurone disease, the common variety, have abnormal collections of this protein in their dying neurones," he said.

"How TDP builds up in sporadic motor neurone disease cases with a normal gene is going to be the subject of more research," Nicholson said.

"Possibly it could be an environmental factor, or another gene overacting -- we don't know what's causing the protein accumulation."

Nicholson said the research could lead to better treatments for the disease, for which there is no cure and which generally proves fatal within three to five years by killing the nerves that control muscle function, eventually leaving sufferers unable to move, breathe, eat or drink.

"Maybe we can regulate this gene better, turn it down, retune it so it behaves normally. That might prevent or cure the disease," he added.



Last night when I went to bed I had a fright. I know it's probably related to the bronchitis (which may be in its final days), maybe also the dry air in the house, but when I was trying to go to sleep I had a hard time swallowing. This scares me more than the loss of strength in my hand and arm--bulbar onset means the clock ticks faster. It worried me so much I got up and drank a full bottle of water just to prove I could.

Today is fine. Today is good. I'm swallowing like a madwoman.



When Becky and Lynne went to the support group in Richmond in January they met a woman who has SLOW progression and who swears by her yoga. Hey, if it works for her, maybe it can work for me.

Oh yoga yoga yoga. The first couple sessions were so hard...I was trying too hard to do what everyone else did. My lack of flexibility and the difficulty I had supporting myself with my arms was very discouraging. I honestly didn't want to go back.

Tonight, however, was actually enjoyable. I let go of the feeling that I had to be just like everyone else. I did what I could, and it felt great. Jenny was with me, was her sweet, supportive self. What's funny is that as limited as I am, she's like a GUMBY! Flexible and lithe and lovely! We certainly balance each other.

On another note, Jenny took some pictures of my ol' claw. I am a little self conscious about posting them but do want some kind of record, just because.

Notice the depression between the thumb and forefinger, and the rebel pinky. Lovely!


Cautiously Hopeful

It is not a cure.  I still have the idiot disease.  But a glimmer of hope is on the horizon and its name is Lithium.  Dr Bayat called in response to my message to her about discontinuing the Rilutek.  Advised that she and her colleagues had concluded they would prescribe Lithium to those ALS patients who asked for it.  I appreciate the open mindedness and forward thinking of these doctors.  They really do want to help.

This might mean years versus months.  I don't have to get worse before they'll help me to get better.  This is worth a Friday afternoon smile.  

An interesting observation:  according to Dr Bayat my status is still "possible" ALS; I don't yet meet all the criteria for a full diagnosis nor would I be considered eligible for any trials.  Yet I am ENOUGH ALSish to prescribe Rilutek and, now, Lithium.  

Also:  the Lithium study was conducted using Rilutek, so I'll have to go back on it.  Waiting until the next clinic visit so I don't confuse my poor delicate little body.  

Here's another smile inducer:


Rilutek -3

Today I ran better than I've run in ages.  Is it because the bronchitis is going away?  Or because it's been three days without Rilutek?  Don't know, don't care.  I ran today and loved it, even with the slightly lingering cough.

My head was clear.  The air was cold but warm enough for shorts.  The sun was out and, for several minutes on the trail, I lifted my face to the warm glow and thanked whoever was responsible for giving me the gift of today.


Running and Breathing

It's been almost two weeks since I came down with bronchitis.  I'm still coughing and it's causing me to second guess myself where running is concerned.  

When I started taking the Rilutek I read one of the possible side effects was decreased lung function.  Whether that is the case or not, it's in my head and I can't shake it.  It adds to the second guessing.  I keep thinking my lungs were more susceptible to infection because of the medicine.  I haven't been this sick since 1999, and I was still smoking at that time.

I am still running.  I want to breathe efficiently while I'm running.  So, starting yesterday, no more Rilutek.  Maybe, after I've stopped running, I'll start taking it again.  But for now, no.  



Fluff Falling (apologies to Tom Petty)

Jen and the Fluff came over this afternoon.  Little Miss Stella had been to the groomer and was all clean and pretty and fluffed.  I got on the floor to see her and was moving over, supporting my weight on my right hand.

My wrist collapsed.

It didn't hurt, it just bent like a cooked noodle.  I fell onto my arm and had the strangest feeling.  Like I was surprised that it happened, surprised it didn't hurt, but knowing it was due.  Or at least that, despite the surprise, I was really unsurprised.  Hard to explain. 

But as you can see, the Fluff is worth falling over. 



It's been so delightfully busy at the office today there were moments I actually forgot about the ALS. Of course, my hand and arm then decide to redouble their twitching efforts so these moments are of short duration, but they DO happen and I am grateful.



Thought I'd make a list of some of the things I do differently now.

I do not wear stockings on days I don't get dressed at home. It's impossible to pull up pantyhose anymore unless I have lots of room to manipulate and the locker room at work just isn't big enough. Haha, this gives the impression my ass is too big for the locker room! In fact, it's getting the stockings over my second foot and then up the leg...requires me to be able to sit on a large open surface and the bench in the locker room is too narrow. Just wanted to clarify that! :)

I hold my pen in between my second and third fingers on my right hand. And it has to be a fat pen.

I can't snap or cross my fingers. Little things you never think about until you can't do it.

I eat mostly with my left hand. When I have to use a knife I hold it with my fist instead of my fingers.

I blow my nose using my left hand.

I don't zip my boots up all the way.

I can't open jars anymore. Thank goodness for my neighbor, who gave me this big old y-shaped thing that grips the lids. VERY helpful.

I don't always button all my buttons. Sometimes I ask others to help me.

I make other people open water bottles for me.

I can't clip my nails on my left hand. I've had others help me with that, too. Makes me pretty sad when I have to ask for help with this.

I can't scratch my back with my right hand because reaching back makes my arm spasm.

I have to use scissors to open bags of chips because pulling either makes me spasm or I just can't do it.

Forget opening the inside of a cereal box. I wait for C Claire to do that.

There are other things I now have to do with my left vs. my right, but they are way TMI for this forum! Suffice it to say I realized the other day how naturally I now default to the left in those instances.

That's enough for now. I don't look too forward to growing this list.



The ulnar digits (pinky and ring finger) and the ulnar muscle along my right forearm are really pissing me off. There's a lot of spasming and what feels like a rubber band snapping in the forearm. That can't be good.

Boy, what a gloomy ol' thing I've been lately. You'd think I was Thull.

I am sitting here at the office, at the job I love so much I can't believe I'm actually here. You know, except for the dumb ALS I have a really fabulous life. My family is healthy and happy; my friends are the best in the world; I have this great job with these great people; even though I'm not running marathons I am STILL running. I need to get the fuck over myself and enjoy every single day--each one is filled with gifts if one has the presence of mind to see them.

Pollyanna is sitting in this chair today.


More on the noodly right.

The realization that my right hand and arm are worsening creeps into my head and forces me to take a good hard look at this idiot disease. The fingers move independently, each dancing to music I can't hear and want to stop. My shoulder seems to ache with the burden of supporting this increasingly heavy and cumbersome limb. Stretching doesn't help. My hand feels thick and ungainly. The muscle in my forearm is practically nonexistent and my bicep is shrinking. When I try to pinch my thumb and forefinger together, there is that faint tickly feeling--an absence of strength I've never felt before. I wonder how long I have until this stupid arm just hangs, a useless appendage. And the twitching, constant, constant, making me nuts.

The ring finger on the right hand has started to rebel, too. It thinks I can't see it ever so slightly holding itself aloof from the middle finger, that I don't notice the way it trembles when I try to hold my hand out. Soon, too soon, it will be like my dumb pinky.

My right thumb is probably the most noticeably changed from even a week ago. The skin around that muscle is wrinkled and shows all too clearly the deterioration. My skin is like a loose glove over an old, worn out claw.

Driving home tonight I passed a company where I had once been interested in working. I wondered "what if I'd gone to work there" and "what if I'd exercised more as a kid" and "what if I'd never smoked." Then I recalled reading and hearing that ALS doesn't result from something you've done or not done, it just is. By that reasoning we who have fallen prey to this insidiousness have nowhere to look, nothing to blame. I can't believe that. There has to be some reason, what is it?



I notice today my right arm feels much weaker, more noodle like. I have to rest it more. I couldn't hold the hairdryer for more than a minute so today we have the "wild do" going on.

Fasciculatin' like a mad woman; but from what I read it's better to fasciculate than not, when it stops it means everything is dead.

When I feel this fatigued it's hard to keep smiling.



How can a government think it's more important to spend time and taxpayer dollars on a hearing with a baseball player about the baseball player's use of human growth hormone when there is a drop-in-the-bucket ALS registry act just waiting, waiting, waiting. One of the statistics I came upon shortly after my dx was that the number of ALS patients in the US was about 30,000--only half a stadium. Maybe if we numbered enough to fill a stadium things would be different.


So. I've had the worst bronchitis. At one point, during the 102 fever, thought I was going to skip the whole paralysis thing and go out because of the congestion. Fortunately the fever broke and I'm improving, but what a terrible time. Haven't been this sick since 1999 when I left the bank. My concern is that the Rilutek has compromised my lungs and if that's the case, I may discontinue. After all, it's only two extra months.



The Annandale Group

Wendy, Jenny and I went to the Annandale support group today--a first for me and Wendy. I won't deny I was petrified about this. Knowing there were going to be others there, others who have had ALS longer and who are far more affected than I am, scared the you-know-what out of me. Bless Jenny's heart, she'd been to the one here at home so had an inkling and was prepared.

I felt as though I had I wasn't supposed to be there. My dumb skeletony hand and a weak arm are all I have to complain about. The others, six men and two other women, have been dealing with ol' Lou for longer. I guess we all have to start somewhere but I was almost embarrassed by my strength. The positive attitudes of the PALS and the CALS at this session, their helpful advice and obvious supportive natures, were remarkable. I will certainly return.

A note about my Jenny, who I have invited to read this and who I hope will post if I can ever figure out how to include her! My Jenny, since the day I told her of this situation, has been nothing but kind, caring, concerned, the most loving of children. She has a heart that glows...such a good daughter.

So. Another step taken. As we were leaving today, one of the PALS (Dick?) said it's day by day. Using my running analogy, I'm going to baby step it up this hill.



Lots of talk about the positive effects of lithium.

I've called Dr. Bayat and left a message. What have I got to lose?


Epiphany #3

I'm sort of big on epiphanies. Since the diagnosis I've had three.

The first had to do with viewing this idiot disease not as an affliction, but as a responsibility and to be as dignified and courageous as possible. The second was about my running--rather than have ALS take it away from me I would give it away a bit at a time.

The third, realized yesterday, is a bit of a reversal of my usual philosophy. I have always said it's better to look forward than to look back, to continue to move ahead positively rather than look back in regret. With all the research and reading I've been doing these last several months, I know what's in store and I don't look forward to it. So instead of looking forward down that avenue, I'm going to look back at the incredible things I've managed to do in the last 49 years and revel in the things I'm still doing.

I didn't start running until I was almost 42. One of the things I marveled in was feeling all my muscles working to propel me along the course: legs, arms, even my big ol' butt. After I finished my first marathon my muscles ached for a couple days, but they ached with accomplishment. Twenty-four marathons followed--the last two since the diagnosis. When I ran Philly I suspected it would be my last one. While I had hoped to run and run and run for years, I know now that's not going to happen. But the fact that I ran 25 marathons, and exceeded even my own (albeit humble) expectations as far as time is a treasure I carry with me. This is the sort of thing I'll look back on.


The rebel pinky

My right pinky has not played well with the rest of my right hand fingers for some time now. The only time I can make it touch its neighbor is when I curl my hand into a fist.

Do you remember the movie The Secret of Nimh? When Mrs. Frisby's son in sick in bed in their little house and the rats are trying to move the house to the lee of the stone, in advance of the farmer's tractor? Mrs. Frisby puts her hand to her mouth in her despair. The hand on the mouth gesture, I once read, is supposed to provide a sense of comfort. I can attest to this, having done it myself.

These days, however, my pinky won't join in the comforting gesture. I find it particularly disconcerting when I apply lotion to my face. It is unsettling to see this rebel finger just floating nearby, not making contact. Instead of feeling comfortable, it is a not-so-subtle reminder of the changes I have experienced and have yet to experience. Often I take my left hand and use it to hold all the right hand fingers together, then apply the lotion, just to recapture the sensation.

Dumb little pinky.


Amateur Hour.

In honor of Brainhell and others with ALS.

I've read several books since being diagnosed, none of which told me what I wanted to know: what were the writers experiencing? When did they feel their first leg cramp? How did it feel when they dropped their spoon into their soup?

This first post will be too long and probably tedious and scattered. A friend suggested I journal my experience so I cut and pasted from old emails. I hope it's readable. Not going to go through and correct any of the misspellings, so I apologize in advance to purists.

Noticed in Jan or Feb 07 I had arthritic looking nodes on my forefingers. In March I made an appt w/ my internist but couldn't see her until May, which was fine b/c it was JUST arthritis. Around the same time I noticed I was having difficulty opening water bottles and my right hand felt "thick", I noticed some twitching in my arm from shoulder to fingertip and, before this, I found it fatiguing to dry and straighten my youngest daughter's hair (very thick, lonnnnnnng process). Finally saw the internist May 30 and she confirmed early osteoarthritis and thought I might have carpal, so she sent me to a rheumatologist (SP?) to rule out rheumatoid arthritis. Saw him in June/July. It wasn't RA, so the next stop was an orthopedic doc, who thought I might have Tinels (ulnar neuropathy), originating from the elbow. Had me undergo the worst test in the world--an upper extremity EMG. The EMG dr (a neurologist) suggested it wasn't Tinels but perhaps brachial plexopathy (from the shoulder area?) and advised I had some damage in both arms. Back to the orthopedic dr (late Sept? Early Oct?) who said the emg didn't indicate anything electrical was causing my problem.

By now I'd started dropping things, couldn't open a binder clip, had a hard time with pens, etc. Also noticed my hand looked different, like it had lost weight. I chalked it up to arthritis making my joints looking horribly deformed. Anyway, the ortho dr referred me to another neurologist who conducted a very comprehensive test and then ordered an MRI. At this point I asked what he was looking for and he, reluctantly, offered the possibility of ALS. Felt like I'd been punched in the stomach but I cheerily replied that I'd better get all my marathoning and travel in as soon as possible.

Off to the MRI, which was NORMAL. Then more blood work was ordered to rule out Lyme Disease and other things--all were ruled out. I knew they would be, because I'm not ignorant and I'd done the research and my doctor (out of GW with a Hopkins pedigree) isn't reckless and wouldn't have said ALS if he didn't have some good reason to say ALS. I hate those letters, by the way. ANOTHER PAINFUL UPPER AND LOWER EXTREMITY EMG was scheduled for early December.

My arm twitches like crazy, my fingers spasm all the time, and I'm weaker. And now my left arm is starting to twitch. I give myself a pity party every couple of days but otherwise marvel in the surreality of all this. 

I'm worried about who will take care of C. I'm worried about money. I am sad to think there's so much I haven't done.


I am working and driving and running and did two marathons within eight days of each other back in November. Right now I have to work hard to hit the keyboard with my right fingers and I need help opening a cereal box, my gas cap, bottled water, and clipping my nails. That last about did me in--I was depressed for hours afterward. I can't hold a five pound weight very well or a full glass, but manage okay with the left. Pens and forks are also difficult. I dont' do well with a brush or hairdryer for very long, so my hair is getting shorter with each visit to the salon.

I'm going to take the kids--all three girls--on a bit of a grand tour this summer. C wants to see the castles in Germany and we will go to the Vatican, maybe Barcelona, and of course a quick stop in my favorite city. It's my intention to build some exciting and happy memories with the girls while I am still ambulatory.

Got the final confirmation of my dx on Dec 27th. Thought I was prepared but, even though I had already accepted the inevitable, it still caused me an emotional relapse. Up and down that old roller coaster still, but may have leveled off a bit. Some days are awful. I don't understand why I can go to bed completely fine and wake up in tears.

The fasciculations are MADDENING. Sometimes I think I've become inured to them but then they pick up intensity and then the left side joins in and I feel like I'm the character William Hurt played in Altered States...all that's left is for me to devolve into a feral creature!

My sweet dear C has suggested we try to time my death with that of our aging 18+ year old cat. Gotta love an Aspie. :)

Several random notes I jotted down:

Have been down for two days. When i heard the NPR blurb about the wedding consignment shop and realized I might not see the girls in a wedding dress it made me very sad. Later in the day talked to Tom and bawled when he asked if I had religion. I had to choke out that I question the existence of a God who would take me away from my C when she needs me. Anyway, the gloom is lifting a little but it's been a tough couple of days.

Jan 7
Dx confirmed on 12/27. up and down. must snap out of it or my face will freeze with a sad look.

Jan 24
I had an epiphany today. I've decided to think like this: instead of my running being taken away from me, I am giving it away, a bit at a time. I like that. Gives me the illusion of having some control over this.

I am officially no longer a marathon runner. I am a half marathon runner until the end of March and then I become a we'll see what races or distances I feel like doing runner.

And today, Feb 4.  Life is good, gonna face this with an upturned face and set a good example.

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