It blows my mind that in 2017 we still know very little about ALS or the brain for that matter. When I was first diagnosed, Dr. Phillip said I had 3 things to immediately consider:
- Did I want a second opinion?
- Did I want to go on Riluzole? (see Medications)
- Did I want to participate in clinical trials?
The optimist in me was thankful to have these 3 questions to focus on, rather than the “27 year old with a terminal disease” thing. Of course I wanted a second opinion, so off to UT Southwestern we went to meet Dr. Elliott and eventually Super Nina Gorham the Great. Of course I wanted to take the only FDA approved drug available to slow the progression of ALS. Only extends life by a few months across the ALS population? Optimist Sunny chooses to focus on the operative phrase “extends life” in that statement.
Of course I wanted to participate in clinical trials. Being raised as the first child in our crazy family dynamic, my entire life is one big guinea pig trial. Well she’s still alive, must be doing something right 🙂 I’ve always been open to helping others learn, grow, and practice. Once at WC I agreed to be a phlebotomy student’s first “live stick” outside of her classmates – in return she promised not to wipe off my makeup if I fainted since it took me so long to get ready. Rarely have I been in a situation that the cons outweighed the pros in helping someone else practice a new skill or trade.
During my second opinion appointment at UTSW I met Super Nina Gorham the Great. Seriously, everyone needs a Nina. She got me plugged into the Rasagiline trial and during the 12 months of the trial we became very close. Nina signs off on all ALS related decisions, she talks me off a ledge at least once a month, and can even hit my vein on the first stick – folks, she’s got it all. Now I’m in a different study with Nina, this one doesn’t involve drugs rather it is cataloging Phenotype, Genotype, and Biomarkers in ALS and related disorders (which is also the title of the study).
Back to the whole “not knowing much about ALS” thing, this study is helping to compile all kinds of genetic data so that one day there will be a “qualifier” for ALS and eventually a cure. Like I’ve told you before, ALS is a disease of deduction meaning there’s no one test that says “yep, you have this horrible disease that’s going to destroy your life – have fun!” So what happens is that they test you for every other imaginable thing out there, then when the list is done an there’s no culprit, ALS becomes the working diagnosis. And even better, because we don’t know what “causes” ALS, we can only treat the symptoms not the root of the problem. Told you this was fun.
So this appointment is every 3 months, and involves A LOT of questions. It’s great though because I get to hang out with Nina the Great and she sends homework home for my husband as my caretaker. Also, I get paid. Not enough to be a legit side hustle gig, but money is money. Worst part is the blood draw, all 9 tubes of it. I’ve learned the importance of hydrating and Nina the Great hooks me up with Graham Crackers and Ensure afterwards (clinical study also turns you into a 90 year old man). Since there’s no drug trial for me right now, this is a great opportunity to further research in the field of ALS. Hopefully a drug trial will be available soon, and rumor is that there’s a few promising ones on the horizon. Until then I’ll keep peeing in a cup and donating blood by the gallon, all in the name of science.