As someone without symptoms of Huntington Disease (HD), there aren't too many research opportunities to take part in but, there is one.
In 2017, after meeting Dr. Mark Guttman at the Toronto Young People Affected by HD (YPAHD) Day, I decided to join EnrollHD after considering it for a couple of years but never pulling the trigger.
EnrollHD is a huge collection of information from people with and without the gene for HD. From this database, various ongoing studies/trials can access information and locate ideal participants for research studies.
During my Enroll visit Dr. Guttman mentioned I qualified for a study where I could donate cerebral spinal fluid by doing a spinal tap aka. lumbar puncture.
I agreed to do it and did it today.
Why would someone opt for a Lumbar Puncture?
In short, I feel I should do everything I can (within reason) to help find a treatment, or better, a cure for HD.
But why?
It gives me purpose.
It gives me a sense of control over an uncontrollable diagnosis.
It gives me greater confidence in the hunt for a cure knowing I am providing them more information to use.
Moreover, it can save my life.
What is the Study?
The Huntington Disease (HD) Clarity study, simply put, is to collect cerebral spinal fluid (CSF) from control persons (those without HD), premanifest HD patients (has the HD gene but not yet any symptoms) and HD manifest patients (showing symptoms of HD).
The CSF is examined to identify and evaluate biomarkers and pathways for HD and other conditions to help develop treatments for HD while also guiding future research studies and clinical trials.
Spinal Tap Day
So much has been going on leading up to my spinal tap that I hadn’t had the mental space or time to get anxious about it.
Arriving in Toronto Wednesday evening, we met with friends for a late supper and hang out. There’s nothing like settling your mind by laughing and catching up with some of your favourite people who always share their optimism and support.
Love love love! However, my husband and I had our 5 month old with us and didn’t account for the draft in the hotel room that was unknowingly blowing onto him every time the AC kicked in.
We didn’t catch any Zzz’s until about 3am. 6:30am rolled around rather quickly and I was up to get ready, feed babe and walk to my appointment.
Luckily for me it was perfectly hot in this heat wave we’re having in Ontario.
Amidst the impending needle poke, the sunshine was convincing my bones to skip down the sidewalk and sing with the birds - ok humm.
Sometimes I imagine myself to be like Snow White - you know what I mean?!
The Tap, Tap, Tap...
The staff are so kind and welcoming that once I arrived I wasn't feeling nervous while doing the visual acuity and motor tests pre-tap. I feel like the HD community is beyond fortunate to have such down to earth people working for our cause.
Dr. Guttman is clearly brilliant if you’ve had the pleasure of hearing him speak but, he’s also so humbling when sharing about his new venture in managing a personal greenhouse and going for 70km bike rides in 40degree Celsius weather. (Yes this is nuts, but he assured me it was early in the morning and he was surrounded by other medical professionals including an ER doc). Haha. His gentle nature is as comforting as it gets when a 3.5inch long needle is pointed at your spine.
So there I was left side lying and crunched into a fetal-like position having my spine palpated to pinpoint the location of needle entry. 2% lidocaine was injected superficially and left to take affect.
Then another dose injected more deeply. Maybe this sounds scary already but honestly, the poke you get during a blood draw in your arm hurts more. After freezing he pierced the needle - a 22 gauge - into my spine. I barely felt anything. Seriously. Fourteen minutes later they had the 20cc of clear cerebral spinal fluid they needed, bandaged me up and had me lay down for one hour. That was it.
Well, Dr. Guttman also mentioned something about my being a better patient than Dr. Ed Wild, but I can't recall why... ;)
After The Tap
Now I’m headed home and it’s time to rest horizontally as much as I can and the bandage can come off in 2 days. I feel so positive, optimistic and fulfilled that, at present, I’ve done all I can do to contribute to a cure. Donating my spinal fluid, donating financially to HD, organizing a hike that raised the most money across the country last year (this year beat by Calgary), amongst other things has me feeling good!
Giving back is powerful. Sure, all of this is also a little selfish as I’m doing it to help my own cause, but knowing I’m helping others in the process and contributing the most I can is priceless. Thank you to Dr. Mark Guttman and Dr. Ed Wild for being amazing human beings and making this study and others possible. I don’t have the words to express how much I appreciate you looking for solutions to end HD!
Also, an obvious thank-you to my husband for driving me around to the endless amount of things I want to do, and for my mother-in-law for watching our 3 year old while we were away!
If you're interested in learning more about Huntington Disease and the ongoing studies, check out the official HSC website and research information.
