February 29th is a day set aside for rare disease awareness
NORD (National Organization for Rare Disorders) partners with a Global rare disease awareness once a year to give recognition to those who fight every day with mostly unknown and under-researched physical challenges. Putting a real face to that simple little phrase — Be kind, because you never know what battle some one is fighting.
My name is Kim and this is my focus story of rare disorder awareness.
I know personally what it is — to have a rare disorder, under the crisis of my medical team having no knowledge or awareness of it at all.
I have Primary Orthostatic Tremor. OT for short or POT – Primary Orthostatic Tremor, primary because OT does not have any other Neurological issues present. (Not to be confused with Postural Orthostatic Tachycardia Syndrome, which is a different disorder referred to as POTS)
It can be a very long journey to receive a diagnosis for rare diseases and disorders. Many times in creating awareness we can then create a path for others that live with the same disorder of symptom confusion and no medical direction.
I began experiencing a problem five to six years prior to my diagnosis, — while I stood engaged in a conversation standing still, I began to feel weak, nauseous, and clammy, with an overwhelming desire to sit down or just melt down to the floor. I did not feel dizzy or faint, I simply could no longer stand without support. Slipping away to find a place to sit, I found recovery. As time passed I experienced it more frequently; while cutting my husband’s hair, while standing doing kitchen prep, and while showering. Turns out that showering is when most patients of OT first notice it, or they find themselves leaning for support on counters. My legs had begun to tremor, in church worship while standing.
Because I have had autoimmune diseases for many years, (Hashimoto’s and Sjogren’s) I attributed it to the very common autoimmune fatigue. Then suddenly it turned into leg tremors that I could feel while standing only, causing me to feel unstable.
I pushed against this problem by ignoring it. This just caused it to flare worse. When leg tremors began coming on within one minute of standing, with visible shaking of my legs, I pursued for an answer. My physicians had no clue what to tell me. All tests came back normal. Standing leg tremors and feeling weak had become chronically consistent. Exhibiting this for my medical team was a mystery to them.
My Endocrinologist, who is a brilliant doctor told me I needed to find a Movement Disorder Neurologist. He sent a referral request that failed as the only Movement Disorder Neurologist in our area is not taking new patients.
I went to my PCP (primary care physician) who informed me of the shortage of Neurologists in our area with a very long waiting list for available appointments.
I began to google my symptom of standing leg tremors, which ceased when walking or sitting down. It was a very simple search, telling me of Orthostatic Tremors and describing exactly what I was going through. This search revealed the knowledge of its extreme rarity. I googled it over and over, in my unbelief, as it was revealed to be a rare neurological and progressive disorder. Then I began to read all the research. The most current research comes from the Mayo Neurological movement Research Team of Rochester, MN.
I had repeatedly gone to my PCP, who may have been tired of trying to understand my standing leg tremors. He ask me if I drank alcohol — two different times he asks me. “No, not ever,” I replied both times smiling at the question. I ask him, “Have you ever heard of Orthostatic Tremor?” He had not. I ask him to look it up. He said he would. And also — “I would like a referral to Mayo Clinic of Rochester, MN please.” I came prepared with an informed referral plan. A good physician of any kind should present with clinical curiosity in leaning in to help you towards a specific health care direction. He knew that I was processing just as he would, if given the same situation.
This whole process took weeks with insurance denials trying to get pre-authorization to get outside my insurance network. Referrals were not processing on through to Mayo Neurology Clinic or my insurance. The system was failing me. I appealed, repealed, and also did a fast re-appeal to my insurance. While referrals were falling short in delivering. I was advised to send the referrals myself. And also ask my PCP to write a letter to my insurance company explaining my need for a Movement Disorder Neurologist. I faxed the PCP referral and also faxed a personal letter to one of the Mayo research team leaders of Orthostatic Tremor. Finally, the timing all came together. Rare disease proved to be a difficult lesson in advocacy.
I had an incredibly compassionate caring insurance case manager who coached me and assisted my passage to Mayo Clinic and even advocated with each of the neurological rule-out tests in need of insurance pre-authorizations. To diagnose a rare disorder takes a lot of ruling out other factors. The main confirming OT test is a standing EMG, that was the test I was anticipating. I completed tests in April and then returned In May for a conclusive diagnosis.
The Movement Disorder Neurologist at Mayo said, “You have Orthostatic Tremor.” I did not tell this physician that I had googled and read all the research papers. I just let him inform me of what direction we would take. My parting question — I told him I had ridden motorcycles since I was a kid and I ask him if I could continue. He said, “Sure, why not.” with his beautiful Italian accent.
What the Movement Disorder Neurologist’s tell OT patients – there is very little by way of help for this rare neurological disorder. I already knew that. I had read it.
Being able to advocate is essential with the complex separate medical hurdles of navigating for a diagnosis, solid answers, and direction for excellence in health care treatments. And also navigating through the complexities of insurance. In preparation for health care navigations, if you are unable to advocate for yourself, bring a loved one or family member. It helps for support and it helps to have 2 sets of ears. Also, someone with you brings greater accountability to not be set aside. Keep a file of your Insurance information, test results, health history, and medications with scheduling; an organized up to date hard copy file, and also a medical file record on your phone and tablet that is printable and easily sent. I have printed notes for my husband to look at while I articulated verbally my symptoms and progression so he can make sure I cover it all with sufficiency. All this preparation calms any pre-appointment anxieties. I believe physicians appreciate good preparation. It’s respectful of their schedules.
For clinical understanding these are the characteristics of OT as described by (NORD) The National Organization of Rare Disorders;
The main symptom of primary orthostatic tremor is the occurrence of a rapid tremor affecting both legs while standing. A tremor is involuntary, rhythmic contractions of various muscles. Orthostatic tremor causes feelings of “vibration”, unsteadiness, or imbalance in the legs. The tremor associated with a primary orthostatic tremor has such high frequency that it may not visible to the naked eye but can be palpated by touching the thighs or calves, by listening to these muscles with a stethoscope, or by electromyography. The tremor is position-specific (standing) and disappears partially or completely when an affected individual walks, sits, or lies down. In many cases, the tremor becomes progressively more severe and feelings of unsteadiness become more intense. Some affected individuals can stand for several minutes before the tremor begins; others can only stand momentarily. Eventually, affected individuals may experience stiffness, weakness, and, in rare cases, pain in the legs. Orthostatic tremor, despite usually becoming progressively more pronounced, does not develop into other conditions or affect other systems of the body.
My words; In short – we can’t stand or we are very limited in standing for any length of time. It causes a very anxious feeling in public settings and we are at an absolute loss for a logical way to express for understanding. It affects elders as well as the young, but primarily elders (60s and over).
The difficult part of a rare disease or disorder, referred to as an invisible disability — no one knows how you feel, or the mental resistance it takes to fight the depression involved. A patient is processing and thinking through it all as they journey into knowing and understanding the fight that lies ahead. The first time you walk up to an electric mobile cart in a store you are pushing back tears and pride all at once. Not wanting to be seen by someone you know. Because hey…I can walk well, but I can not slow walk for long or stand for long when shopping. The limited support of pushing a shopping cart helps for a brief shopping trip.
One research movement neurologist gives it a very good word picture as he says – it’s like riding a bicycle, as you slow down you become wobbly and at a stop, you have need to prop yourself up. This should help for excellent understanding.
Coping strategies; I use a rolling stool chair for kitchen prep. I sit to shower. I sit to brush my teeth. I simply sit down for any task that requires too much time standing still. I keep a small shoulder-strapped folding tripod stool in my car. I lean, sit or move leg to leg when holding a conversation. When I see a waiting line for anything I get an anxious feeling and do deep breathing and leg shifting for resetting the tremor, which can become exhausting as it does not work for very long. My husband does most of the quick trip grocery shopping. Stress is a factor in any neurological disorder. I mostly quit watching the news and for the most part limit social media. I isolate more than I should and I am hoping I move past that. I have my buddy/love husband of 44 years for support. I love to see our grandchildren. And come spring I will be on my motorcycle.
The rarity of OT is astonishing just through my observations. When I searched for a support group within the ranks of Orthostatic Tremor disorder. The only sufficiently active group is based out of Australia with global representation. Their numbers, which includes concerned loved ones and relatives of OT patients is just under 1000.
I can not stress enough the importance of a support group within a rare disorder or disease. This group of Primary Orthostatic Tremor patients shares years of experience that leads to coping advice and the latest information of research studies. A very proactive group that bonds together with encouragement. Sharing their OT journeys, lending great support to the newer ones. Within the OT support groups, some OT patients express that their neurologists have told them; in a lifetime within clinical practicing, they might only have one or two OT patients, if any at all. It takes a Movement Disorder Neurologist’s expertise with marginal knowledge given the limited resources of research and also limited treatment options to diagnose and give clinical support. Research has not uncovered the cause of OT. Researchers and physicians both may benefit to enter into these support groups for observation of patients informing one another of their individual stories. They present great clues for researchers who are pursuing causes, treatment, prevention, care, and cures. Testimony and documentation of how their OT journey began and has progressed over the years should be valued information for research. Orthostatic Tremor is yet in its infant stages of research.
Increased Orthostatic Tremor knowledge and awareness in the medical field is a great benefit for OT diagnostics. My team of caregivers (PCP, endocrinologist, rheumatologist and, nurse practitioner) all of who I have great confidence in, had never heard of Orthostatic Tremor due to its rarity.
I know there are many physical unknowns and physicians can not be expected to know everything.
Awareness is essential for diagnostics with rare diseases and disorders.
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