My ALS

February, 2020

Amyotrophic Lateral Sclerosis (say that fast ten times) is a degeneration of the motor neurons (MNs). These neurons are part of the transmission system of impulses from the brain to muscles controlling voluntary movement. ALS can destroy your ability to move anything, talk, type or, ultimately, breathe. It’s impact varies from person to person. My eyes are not affected.
ALS, also known as Lou Gherig’s Disease or Motor Neuron Disease, affects 20,000 to 30,000 people in the US and life expectancy is 2 to 5 years from onset. I was diagnosed on October 11, 2018.
We don’t know what causes ALS or as the Doc’s say, what is the initial insult (“Take my motor neurons please”), but we know some of the downstream biology.
In pALS (people with ALS), motor neurons get abnormally excited by glutimate, the “gasoline” used to power motor neurons. A medication called riluzole (which when misprounced sounds like an Italian dish) was developed to inhibit uptake of glutimate by MNs. It is standard therapy.
ALS causes MNs to oxidize (which I assume means rust). A drug, Radicava, recently approved for ALS treatment, seeks to slow oxidation. Unfortunately, Radicava must be taken intraveniously through a surgically implanted mediport and costs you or your insurer $145,000 a year (but around $40,000 a year in Japan where it is manufactured).
Burrowing down into the cell we find destruction of the mitochondria, a sort of cellular power plant. I was admitted to a trial of a drug to deal with this issue. You have to drink this stuff that tastes like rancid hawaiian punch laced with drano. Two doses a day. Yum. Thanks to a recently installed feeding tube the medication can be sent directly to the stomach bypassing the taste buds. Initial results are promising which only means degeneration is slowed but not stopped or reversed.
There are a number of other downstream impacts. Proteins responsible for MN processes fold improperly or clump. In familial ALS, which accounts for around 15% of the cases, there are genetic sequences that repeat (on the ninth chromosome if you’re asking). Genetic testing indicates my ALS is not familial but “sporatic” (my siblings and daughter were especially happy about this).Metabolism zooms. (ALS is a terrible way to lose weight but a great excuse for ice cream and cookies.) There are many more impacts.
Symptoms flow out of MN degeneration. Muscle spasticity results in uncontrolled stiffness. Therapies don’t cure but manage the problem and range from drugs, botox, and cannabis (CBD and THC) to massage and pedaling machines. Muscle cramping and spasms, or fasciculations, also occur. Uncontrolled laughing or crying can be controlled by cough syrup (who knew?). And don’t even ask what living in a wheelchair does to your GI tract. Brain issues, apart from upper MN degeneration, include frontotemporal demensia (which turns you into a bigger asshole than you already are), panic attacks and depression (hello Zoloft). Otherwise your brain continues with the cognition you had before the illness. Loss of tongue and other oral functions makes eating so difficult that a feeding tube is ultimately installed allowing liquid nutrients (including Pinot Noir) to be poured directly into the stomach. Loss of oral function also makes you drool (fun fact: you produce 1-1.5 liters of saliva a day). Loss of diaphram and oral functions result in loss of speech. This is partially alleviated by using a device allowing you to create words, which can be vocalized, using your eyes (giving new meaning to the expression “Do you see what I am saying”).

The medical issues are about 20% of the crap us pALS have to deal with. Because you will eventually become paralyzed, there is a mad rush to make your house accessible. This includes everything from installing grab bars and ramps to ripping out your beautiful granite tile shower and replacing it with a prefab accessible unit with the charm of a subway station. And God help you when you need to get durable medical equipment such as an electric wheelchair. I really appreciate that insurance covered this $20K+ expense, but did they really have to delay delivery by over a month over a typo in the benefit authorization!? Kafka would be proud.
The financial impact can be crippling especially when you bring in a caregiver. Although I am blessed in this regard I pray for those less fortunate. Legal issues ranging from health care directives to basic estate planning require attention. I understand from my clinical team that disfunctional family dynamics can rear their ugly head although, again, I have experienced only support and love from my family and friends.
The care community surrounding a pALS is critical. Here in the Bay Area we are blessed with three ALS clinics rated to be in the top ten nationally. I go to Stanford and see specialists in neurology (who also has a PhD), palliative care, and pulmonology, as well as physical and speech therapists. I’m also able to take advantage of clinical trials at each of these ALS Association named “Centers of Excellence”.
My care community also includes my business network which led me to my extraordinary caregiver and led the charge for my appointment as a distinguished alumnus of my law school. My friends have been frequent visitors to share happy times while putting a dent in my single malt scotch collection.
Most important has been my family. From helping with family investments to cooking dinners to the endless need to modify hardware to make it accessible and useable, they have been indespensible. The trip to Ireland with them was “extreme craic”.
Most of all has been my beautiful wife Laurel whose energy and relentless optimism have led me out of many a dark time. I am truly blessed.