Shaking It Up

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I started feeling, what I called an 'internal tremor' when I was in my late 30's, usually when I was under a little stress.  I was showing my third dog in obedience and every time I went into the ring, I was suddenly overcome with this inner tremulousnus and I couldn't understand why showing was suddenly making me feel nervous since it was something I enjoyed and just did for fun.  I also hadn't felt it with the first two dogs I showed, so it made no sense to me, since I actually felt more relaxed going into the ring.   Two of the obedience exercises required you to stand across the ring from your dog...one exercise required you to stand in place without moving for one minute, and the second one required you to stand for three minutes.  As the months went by, I was finding this more and more difficult and I started getting sharp pains in my arches; so I would shift my weight from one leg to the other as I stood.  I still wasn't aware that I had a tremor....I felt that it was all internal and never connected the pain in my feet with it.  Early on, I had seen a neurologist and when he heard that my mother had ET, he quickly diagnosed me with it also, as did the following 3-4 neurologists that I saw over the next several years. 

As time went on, I remember telling my doctor that I could no longer just stand and that it was hard to explain, but it was like I had to work at standing and it was a real effort and in doing so, and I got a lot of pain in my arches.  I could no longer stand with a group of friends for more than a few minutes, and found myself leaning on something any time I attempted to stand. I continued going to dog shows, but by the late 90's, I'd given up showing and just went to watch, sitting in a chair ringside. By this time, my doctor had sent me to a Podiatrist, who sent me to PT and gave me shoe inserts.  When that didn't work, I saw another one a couple of years later and he had no idea what could be causing my foot pain.  From there, I was sent to a Physiologist, who referred me to Easter Seals Rehab, who was very interested in my problem but also had no answers for me.  A few years later, I was sent to another neurologist who had me stand, and he put a hand on my leg, and said, 'no wonder your feet hurt; your legs are shaking!' I wasn't even aware of it! 

Sometime in 2004-2005, I saw a new, local neurologist who gave me the name (OT) for my shaking legs, however, he didn't really understand it.  All he knew was that it caused shaky legs, but by this point, I also had shaky hands, an abnormal gait, and I had started falling if I wasn't very careful...  In the fall of 2005, I had to give up my dog grooming business because of the fatigue and pain, and it was no longer safe for me to be using scissors on the dogs with my shaking hands.  

Since my new neurologist thought I had some form of ataxia, he sent me to Boston Medical Ctr., in Massachusetts where I saw a Movement Specialist, (who didn't understand OT either) and after a few visits, she passed me off to the geneticist for ataxia testing, which came back negative.  Because I'd previously had blood clots and pulmonary embolisms, I was also tested for blood disorders and found to have the MTHFR gene, which has fairly recently been associated with ET (and I believe it's connected with OT also!)  The geneticist labelled me with having a very severe case of ET, and asked if he could take DNA  from 20+ members of my family for a study he was doing to try and locate the gene that caused it, which I agreed to do.  As we parted, he told me not to wait by my mailbox for an answer.... and that studies like this usually took many years.  Needless to say, he never found any answers, but he did not forget me!  About 3-4 yrs. ago, he called to ask if he could send my DNA to a group in Montreal, Canada who  had identified a genetic marker for ET in a large family there.  Of course, I agreed to it, and several months later, they contacted my geneticist and said that I did not have the ET gene that they had located. This really didn't surprise me, since I have OT!

Just about a year ago, I heard from him again, and this time he told me that he had submitted my family's DNA to a large study being done throughout the United States at the Centers for Mendelian Genomics and that we had been accepted.  It was submitted for ET, since OT wasn't on their database of diseases, and they didn't identify any known ET markers in my DNA, but they did find one of the newly discovered Parkinsons Susceptibility Genes (SIPA1L2).  Like having OT, I was the only one in my family to have this gene.

Backtracking a bit, after being given the OT diagnosis, my symptoms continued to progress and were getting to be debilitating and my neurologist didn't know why.  One night in 2010, out of frustration, I Googled 'the debilitating effects of Orthostatic Tremor', just to see if there were any.  The first thing that came up was Dennis Stanbridge's article at the National Tremor Foundation's site, 'Living With Orthostatic Tremors'.  I was near tears by the time I got to the end of it because it described me to a 'T'!  I finally had all the answers to my questions and symptoms.  Even though no one else understood me, I felt that this article sort of redeemed me!!

Over the last few years, I have tried to become an advocate for OT, and in early 2012, I wrote an article titled 'Shake It to the Limit' for National Rare Disease Day.  If you would like to read it, it is on my Facebook page....just send me a friend request with a little note.  If you are newly diagnosed with OT or question some of your symptoms, I think you will find it helpful because it is an indepth description of how I've dealt with OT over the years and my symptoms.  Last year, I participated in a study on OT in Nebraska done by Dr. Torres-Rosutto at the University of NE, which was done totally by volunteers.  Because OT is so rare, funding for studies is scarce, so I really think it's essential that we do all we can to make an awareness.  Last year, I designed t-shirts for OT for members of the two support groups that I am a member of. I have probably spent over 100 hrs. researching OT because I want to know everything there is to learn and I want to know my destination.

In November, 2012, I started participating in a government study at the National Institute of Health in Bethesda, MD for 'Parkinsons Risk'. My mother's ET progressed to Parkinsons in her later years and her brother was also diagnosed with it.  I've read that having OT puts you at a 25% higher risk of Parkinsons and again, I want to know; so every 18 months, I go down to the hospital in MD for 3-4 days as an in patient for numerous tests.  Thus far, I have not been diagnosed with it and I am due for my next in patient stay in November, 2015.

I always say, OT is not for sissies, and it took me awhile to figure it out but you have to take some time to mourn the loss of the life you once had; but then you have to pull yourself up out of that rut.  We are only given one life, and I've decided that I'm going to live it the best I can!