Ginny – Buffalo, NY
Believe it or not, some days I find myself grateful that I do not know what it is like to live without symptoms of dystonia. Other days, I would simply love to live a full 24 hours, symptom-free. My type of dystonia, however, is basically around the clock, but for when I’m sleeping. Through all the mis-diagnosis’, medication and treatment trials and errors, years and years of multiple kinds of therapies, including Physical Therapy, Occupational Therapy, speech, mental, cognitive, and Botox injections, carrying an IEP all through my schooling, and having countless neurological testing done throughout my 33 years, I can say with certainty, I will grit my teeth to do all that I can to help future generations. Here is an abridged background of my journey thus far:
When I was 9 months old, my mom and dad noticed that my arm involuntary shook when I tried to reach for something and I could not sit up without falling back, did not have speech, or walk, until age 2½. Shortly thereafter, at about 3 years old, and with my parent’s dedication, I went to a special school where I received services like OT, PT, and speech therapy.
By kindergarten, I was able to join a regular classroom, and found that friends and classmates have been vital to my ability to be “able.” Although I had to sit in a special chair, have PT and OT through the fourth grade, took extra time on testing and received help with fine motor like writing and taking notes, I liked school and was a happy kid. Carrying with me the the label of ‘mild cerebral palsy’ until age 10, I don’t think anything stopped me from learning how to do things like riding a bike, getting good grades, water-skiing, having fun with friends, playing and playing outside. To most everyone who saw me during those fun activities it was hard to tell there was anything “wrong” with me. It was the things no one thinks about after a certain age like, eating, drinking, standing still, sitting in a chair, that proved most difficult for me. My body moved constantly, except when I slept. My mom and dad took me to get many tests, and to many doctors, but despite everyone’s best efforts, no one at that time could figure it out what was wrong.
At age 10, I went to the Cleveland Clinic and was evaluated by a pediatric neurologist. Many tests and evaluations were done, combined with a review of my family history. Thereafter, I was re-diagnosed with ‘Benign Hereditary Chorea.’ I tried many medications for several years, but none of them really worked. In the meantime, I still did well at school, took piano lessons, played soccer and basketball and rode horseback. I swam, skied, had amazing friends, laughed a lot, and loved my dog, Emma…well, more accurately, loved all animals.
I graduated middle school with the highest honors; yet, still could not do very basic things like handwrite, drink from a cup, carry my lunch tray, stand or sit still. I was very aware of this and my muscles were getting a full on workout. At times, it was incredibly hard to sit still in school, be in school productions, talk in class because I was consciously working hard to stop myself from experiencing spasms, or sit in any public place. My best efforts to control my spasms just made them worse. Looking back, I recognize I had a lot of courage and it made me realize and appreciate the idea of being kind. Being around my friends, family, and animals, was when my body would relax a bit.
Sophomore year of high school, I went on a medicine that helped minimize my symptoms by about 50%; yet, as is often the case, one of the side effects was that it made me extremely tired. It should not be used for patients with dystonia, but I wouldn’t be diagnosed for 10 more years.
I went off to college in New England after accomplishing all my goals I set for myself in high school. College was a roller-coaster in all the sense of the metaphor. Nevertheless, I graduated in four years with a BA in Sociology.
At age 22, I was a college graduate, I drove (reluctantly 🙂 ), I had several different jobs, had fun experiences; yet, something was still not really right. The Internet was starting to have journal articles that I would read while at the library. I came across a “Dr. Stanley Fahn” and one word that seemed fitting, “dystonia.” I moved to NYC for the summer and stayed with my aunt and uncle. I met with Dr. Fahn’s students and fellows, as they were now movement disorder neurologists. I went through another battery of tests and evaluations. At age 23, I got my first big girl job and we were all closer to getting the answer to this “fascinating case.” It turns out I had myoclonus dystonia all along!!! This was later confirmed for certain, with a genetic test I had in 2006, of DYT-11.
So, began the right treatments, oral medications, Botox injections in larynx, neck, shoulders and traps. Trips to NYC for this inbetween my full time jobs, getting my Masters of Social Work, and then, becoming a licensed Social Worker and getting a job counseling in a federally funded clinic. Just a couple of things remained, I was drained emotionally, physically and depleted because I had this notion to keep going, going, going and ignored loved ones, gritting through all the pain and consistent moving- like a day long workout, each and every day. I was struggling; yet, I didn’t want to show it or know how too. I didn’t want to appear meek as I was supposed to be guiding others; all the while, I had neglected to guide myself. After two hospital stays, and barely able to keep my legs walking, I went on disability.
I felt so much shame, was so angry at myself, disappointed with myself, I was grief stricken. My job was great and helped me through the paperwork to get medical coverage. My co-workers took over and I learned to take care of myself.
I did PT three times a week, slept, ate better, and began going to counseling myself. My dog, Tater, and my cat, WallE, were also my therapy, and my true friends stuck with me.
My grandparents looked into DBS four years before I was ready to go forward. In the end, it was serendipity because all the right team was in place.
In October 2013, I met with the team of 5 experts at Cleveland Clinic to see if I was a candidate for Deep Brain Stimulation. They had done many generalized cases; yet, Myoclonus dystonia was a whole other beast. But they believed in me and I believed in them. Later that month, they confirmed that they would do the surgery, under general anesthesia with MRI assistance.
In December 2013, insurance approved my appeal to have DBS done asleep due to all my tremors and Myoclonus jerks.
On January 30th 2014, after many prayers, hugs, loved ones, and letters that I cherish, they shaved all my hair (I did donate it), and drilled the two burr hole) and put in temporary stitches.
On February 6th 2014, a team of heroic doctors, including Dr. Darlene Lobel, my heroine Neurosurgeon, performed the 9 hour Deep Brain Stimulation, with family and friends, near and far, by my side for support.
Now, one year, one month, and 13 days later (authored summer 2015), I would like to thank them all for this gift. I believe it came at the right time, as the first 32 years make this treatment so much more incredible. To live life and do the simple thing so many may take for granted. Sure, there are still bad days. Sure, I still take medications, get Botox injections and I am clumsy and hurt at times. Yet, I don’t have to work as hard at the simplest things in life anymore, and can focus on broader aspects of life. All in all, my life thus far can be summed up in one of my favorite quotes by Hillel: “I get up. I walk. I fall down. In the meantime, I keep on dancing.” Many times, you might see me dancing with humans and animals alike, with a full heart of gratitude and ready to keep going despite what happens down the line.