Updated: Aug 29
This story was pulled from a December 2020 Facebook post and was too good not to share through our blog:
Hi, I’m Sara and I have a Valosin containing protein gene mutation. (“Hi Sara.”) It’s called VCP Disease or Multi System Proteinopathy (MSP). It’s so rare that they haven’t even really settled on what to call it.
It’s a gene everyone has that’s responsible for degrading protein in our cells. It’s like that old gum commercial, “Dirty cells? Clean ‘em up!” But I don’t have the good Orbitz gum, friends. My gum is like the Fruit Stripes gum that loses its flavor and gumminess in 3 chews.
Most everyone’s in the world works correctly- but for those with a mutation, it can affect our muscles, bones, brains, and motor neurons.
It causes a variety of diseases including inclusion body myopathy, Frontotemporal dementia, Paget’s disease of the bone, Parkinson’s, and even ALS.
What this means for me is years of inexplicable minor symptoms that eventually peaked a little over a year ago at age 42.
I led an extremely active lifestyle. I was a powerlifter and Crossfitter. I had a successful career as a health insurance agent. Sitting still was a rarity for me.
In just a few months' time, my muscles have degraded to a point where standing longer than 10-15 minutes is a struggle. Washing my hair and even swallowing food and medications is tough. Plus, my hands and fingers have lost their strength and begun to curl- making opening bottles and texting cute dates a giant pain in the rear.
My workouts look differently now. I’ve replaced deadlifts and squats with blow drying my hair and holding my hands at 10 and 2 on the steering wheel. I am no longer able to work due to fatigue. No more late-night dancing, or all-day Sunday meal prepping.
Even shopping, admittedly one of my favorite pastimes, is limited to stores that I can make it through in less than 10 minutes.
And the sitting. Good goddess, there is so. much. sitting.
Instead of barbells and an office with a window, there are leg and hand braces, walkers and bed rails, and the inevitability of even more assistive devices in the future.
Rare diseases are not funded the same way that more common diseases (like cancer and Alzheimer’s) are. And without funding, hope for a treatment, much less a cure, is a pipe dream.
Thankfully, CureVCP.org has begun a natural history study of 20 people. The collection of this information will help our disease qualify for future treatments that are created.
The study will cost $120,000 - and it’s going to take spreading a lot of awareness to reach that goal.
I know it’s been a tough year for all of us, but I’m still asking for your help.
Giving Tuesday is right around the corner.
If you were planning on donating towards a cause this year, I ask that you consider giving towards this organization. Not only will you be helping me, and people like me, but you’ll be helping future generations before the disease begins its damage.
Life comes at you fast and is filled with changes. It’s something that 2020 has taught us all, right?
Regardless of my diagnosis and the losses associated with it, I’m grateful to have the opportunity to finally slow down and revel in the small, most important parts of life. My hope is to have more time to spend on these things- independently.
While it’s not easy to speak about, I know that sharing my story and relying on the kindness and generosity of both friends and strangers will help me continue living my best life.
Thank you for considering our cause, and for helping to spread awareness.
Love to you all.